Record 1 of 329 in MEDLINE EXPRESS (R) 2000/11
TITLE: Mechanical properties of the common carotid artery in Williams syndrome.
AUTHOR(S): Aggoun-Y; Sidi-D; Levy-BI; Lyonnet-S; Kachaner-J; Bonnet-D
ADDRESS OF AUTHOR: INSERM 0016 and Service de Cardiologie Pediatrique, Hopital Necker-Enfants Malades, 149 rue de Sevres 75743, Paris Cedex 15, France.
SOURCE (BIBLIOGRAPHIC CITATION): Heart. 2000 Sep; 84(3): 290-3
INTERNATIONAL STANDARD SERIAL NUMBER: 1355-6037
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: OBJECTIVE: To determine whether arterial wall hypertrophy in elastic arteries was associated with alteration in their mechanical properties in young patients with Williams syndrome. METHODS: Arterial pressure and intima-media thickness, cross sectional compliance, distensibility, circumferential wall stress, and incremental elastic modulus of the common carotid artery were measured non-invasively in 21 Williams patients (mean (SD) age 8.5 (4) years) and 21 children of similar age. RESULTS: Systolic and diastolic blood pressures were higher in Williams patients (125/66 v 113/60 mm Hg, p < 0.05). The mean (SD) intima-media thickness was increased in Williams patients, at 0.6 (0.07) v 0.5 (0.03) mm (p < 0. 001). Normotensive Williams patients had a lower circumferential wall stress (2.1 (0.5) v 3.0 (0.7) mm Hg, p < 0.01), a higher distensibility (1.1 (0.3) v 0.8 (0.3) mm Hg(-1).10(-2), p < 0.01), similar cross sectional compliance (0.14 (0.04) v 0.15 (0.05) mm(2). mm Hg(-1), p > 0.05), and lower incremental elastic modulus (7.4 (2. 0) v 14.0 (5.0) mm Hg.10(2); p < 0.001). CONCLUSIONS: The compliance of the large elastic arteries is not modified in Williams syndrome, even though increased intima-media thickness and lower arterial stiffness are consistent features. Therefore systemic hypertension cannot be attributed to impaired compliance of the arterial tree in this condition.
MINOR MESH HEADINGS: Adolescence-; Adult-; Case-Control-Studies; Child-; Child,-Preschool; Echocardiography-; Elasticity-; Statistics,-Nonparametric; Williams-Syndrome-ultrasonography
MAJOR MeSH HEADINGS: *Carotid-Artery,-Common-physiopathology; *Williams-Syndrome-physiopathology
CHECKTAGS: Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20413298
UPDATE CODE: 200011
SUBSET: AIM
Record 2 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Rapid detection of microdeletions using fluorescence in situ hybridisation (FISH) on buccal smears [letter]
AUTHOR(S): Nieuwint-AW; Van-Hagen-JM; Heins-YM; Madan-K; Ten-Kate-LP
SOURCE (BIBLIOGRAPHIC CITATION): J-Med-Genet. 2000 Jun; 37(6): E4
INTERNATIONAL STANDARD SERIAL NUMBER: 1468-6244
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNKNOWN
MINOR MESH HEADINGS: Cheek-; Chromosome-Abnormalities-diagnosis; Chromosome-Abnormalities-genetics; Cosmids-genetics; In-Situ-Hybridization,-Fluorescence-methods; Mouth-Mucosa-cytology; Syndrome-; Williams-Syndrome-diagnosis
MAJOR MeSH HEADINGS: *Chromosome-Deletion; *Chromosomes,-Human,-Pair-22-genetics; *Chromosomes,-Human,-Pair-7-genetics; *Mouth-Mucosa-ultrastructure; *Williams-Syndrome-genetics
CHECKTAGS: Human
PUBLICATION TYPE: LETTER
CAS REGISTRY NUMBER OR EC NUMBER: 0
NAME OF SUBSTANCE: Cosmids
MEDLINE ACCESSION NUMBER: 20379305
UPDATE CODE: 200010
Record 3 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Williams syndrome: cognition, personality, and adaptive behavior.
AUTHOR(S): Mervis-CB; Klein-Tasman-BP
ADDRESS OF AUTHOR: Department of Psychological and Brain Sciences, University of Louisville, Louisville, Kentucky 40292, USA. cbmervis@louisville.edu
SOURCE (BIBLIOGRAPHIC CITATION): Ment-Retard-Dev-Disabil-Res-Rev. 2000; 6(2): 148-58
INTERNATIONAL STANDARD SERIAL NUMBER: 1080-4013
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Williams syndrome is caused by a microdeletion of at least 16 genes on chromosome 7q11.23. The syndrome results in mild to moderate mental retardation or learning disability. The behavioral phenotype for Williams syndrome is characterized by a distinctive cognitive profile and an unusual personality profile. Relative to overall level of intellectual ability, individuals with Williams syndrome typically show a clear strength in auditory rote memory, a strength in language, and an extreme weakness in visuospatial construction. The personality of individuals with Williams syndrome involves high sociability, overfriendliness, and empathy, with an undercurrent of anxiety related to social situations. The adaptive behavior profile for Williams syndrome involves clear strength in socialization skills (especially interpersonal skills related to initiating social interaction), strength in communication, and clear weakness in daily living skills and motor skills, relative to overall level of adaptive behavior functioning. Literature relevant to each of the components of the Williams syndrome behavioral phenotype is reviewed, including operationalizations of the Williams syndrome cognitive profile and the Williams syndrome personality profile. The sensitivity and specificity of these profiles for Williams syndrome, relative to individuals with other syndromes or mental retardation or borderline normal intelligence of unknown etiology, is considered. The adaptive behavior profile is discussed in relation to the cognitive and personality profiles. The importance of operationalizations of crucial components of the behavioral phenotype for the study of genotype/phenotype correlations in Williams syndrome is stressed. MRDD Research Reviews 2000;6:148-158. Copyright 2000 Wiley-Liss, Inc.
MINOR MESH HEADINGS: Intelligence-
MAJOR MeSH HEADINGS: *Adaptation,-Psychological; *Behavior-; *Cognition-; *Personality-; *Williams-Syndrome-psychology
CHECKTAGS: Human; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
CONTRACT OR GRANT NUMBERS: NS35102NSNINDS; HD29957HDNICHD
MEDLINE ACCESSION NUMBER: 20360061
UPDATE CODE: 200010
Record 4 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Sudden death of a 21-year-old female with Williams syndrome showing rare complications.
AUTHOR(S): Imashuku-S; Hayashi-S; Kuriyama-K; Hibi-S; Tabata-Y; Todo-S
ADDRESS OF AUTHOR: Division of Pediatrics, Children's Research Hospital, Kyoto, Japan. shinim95@mbox.kyoto-inet.or.jp
SOURCE (BIBLIOGRAPHIC CITATION): Pediatr-Int. 2000 Jun; 42(3): 322-4
INTERNATIONAL STANDARD SERIAL NUMBER: 1328-8067
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: AUSTRALIA
MINOR MESH HEADINGS: Adult-; Diabetes-Mellitus,-Non-Insulin-Dependent-complications; Fatal-Outcome; Risk-Factors; Tomography,-X-Ray-Computed
MAJOR MeSH HEADINGS: *Death,-Sudden,-Cardiac-etiology; *Williams-Syndrome-complications
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20338506
UPDATE CODE: 200010
Record 5 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: A componential view of theory of mind: evidence from Williams syndrome.
AUTHOR(S): Tager-Flusberg-H; Sullivan-K
ADDRESS OF AUTHOR: University of Massachusetts, MA, Boston, USA. htagerf@shriver.org
SOURCE (BIBLIOGRAPHIC CITATION): Cognition. 2000 Jul 14; 76(1): 59-90
INTERNATIONAL STANDARD SERIAL NUMBER: 0010-0277
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: NETHERLANDS
ABSTRACT: In this paper we argue that there are two distinct components of a theory of mind: a social-cognitive and a social-perceptual component. Evidence for this proposal is presented from various sources, including studies of children with Williams syndrome, a rare genetic neurodevelopmental disorder. Earlier work has demonstrated that people with Williams syndrome appear to be spared in the social-perceptual component of a theory of mind. In this paper we present evidence that they are not spared in the social-cognitive component of theory of mind. Three experiments with young children with Williams syndrome were conducted. In each experiment the children with Williams syndrome were compared to age-, IQ-, and language-matched children with Prader-Willi syndrome, and children with non-specific mental retardation. The experiments used different measures of theory of mind ability, including false belief (Experiment 1), explanation of action (Experiment 2), and recognition of emotional expressions (Experiment 3). In none of these experiments did the children with Williams syndrome evidence superior performance compared to the control groups. The results from this and other studies on Williams syndrome support the view that the social-cognitive and social-perceptual components of a theory of mind are dissociable. In Williams syndrome only the latter components, which are linked to distinct neurobiological substrates, are spared.
MINOR MESH HEADINGS: Child-; Child,-Preschool; Prader-Willi-Syndrome-psychology
MAJOR MeSH HEADINGS: *Cognition-physiology; *Social-Perception; *Williams-Syndrome-psychology
CHECKTAGS: Comparative-Study; Female; Human; Male; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: RO1HD33470HDNICHD
MEDLINE ACCESSION NUMBER: 20283488
UPDATE CODE: 200010
Record 6 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Expressive vocabulary ability of toddlers with Williams syndrome or Down syndrome: a comparison.
AUTHOR(S): Mervis-CB; Robinson-BF
ADDRESS OF AUTHOR: Department of Psychological and Brain Sciences, University of Louisville, KY 40292, USA. cbmervis@louisville.edu
SOURCE (BIBLIOGRAPHIC CITATION): Dev-Neuropsychol. 2000; 17(1): 111-26
INTERNATIONAL STANDARD SERIAL NUMBER: 8756-5641
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: School-aged children and adults with Williams syndrome have repeatedly been found to evidence an expressive vocabulary advantage relative to same-aged individuals with Down syndrome. However, Singer Harris, Bellugi, Bates, Jones, and Rossen (1997) argued that this advantage is reversed during the initial period of language acquisition; during this time, children with Down syndrome have larger expressive vocabularies than children with Williams syndrome. This result may have been due to methodological problems, however. This study uses a different design to reconsider the question of whether toddlers with Williams syndrome show an expressive vocabulary advantage over same-aged toddlers with Down syndrome. Parents of twenty-four 2-year-olds with Williams syndrome and twenty-eight 2-year-olds with Down syndrome completed the vocabulary checklist from the MacArthur Communicative Development Inventory: Words and Sentences. The 2 groups were carefully matched for chronological age (CA). Results indicated that the toddlers with Williams syndrome had substantially and significantly larger expressive vocabulary sizes than did the CA-matched children with Down syndrome. Additional analyses of children for whom data were available between the ages of 2 years 0 months and 2 years 3 months indicated that the expressive vocabulary advantage for children with Williams syndrome was present even at this very young age when none of the children had begun to produce word combinations. The Discussion section that follows addresses the discrepancy between these findings and those of Singer Harris et al. and considers the variability present within both the Williams syndrome and Down syndrome samples. Also discussed is the continuity across the lifespan in both the expressive vocabulary advantage shown by individuals with Williams syndrome relative to same-aged individuals with Down syndrome and the expressive vocabulary variability within each syndrome.
MINOR MESH HEADINGS: Age-Factors; Child,-Preschool; Language-Tests
MAJOR MeSH HEADINGS: *Down-Syndrome-psychology; *Language-Development; *Williams-Syndrome-psychology
CHECKTAGS: Comparative-Study; Female; Human; Male; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: HD29957HDNICHD; NS35102NSNINDS
MEDLINE ACCESSION NUMBER: 20373290
UPDATE CODE: 200010
Record 7 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Echocardiographic features of genetic diseases: part 6. Complex cardiovascular defects.
AUTHOR(S): Alizad-A; Seward-JB
ADDRESS OF AUTHOR: Division of Cardiovascular Diseases and Internal Medicine, Mayo Clinic and Mayo Foundation, Rochester, Minn. 55905, USA.
SOURCE (BIBLIOGRAPHIC CITATION): J-Am-Soc-Echocardiogr. 2000 Jun; 13(6): 637-43
INTERNATIONAL STANDARD SERIAL NUMBER: 0894-7317
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Child-
MAJOR MeSH HEADINGS: *Down-Syndrome-ultrasonography; *Heart-Defects,-Congenital-ultrasonography; *Turner's-Syndrome-ultrasonography; *Williams-Syndrome-ultrasonography
CHECKTAGS: Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20309567
UPDATE CODE: 200010
Record 8 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Elastic-fiber pathologies: primary defects in assembly-and secondary disorders in transport and delivery [comment] [editorial]
COMMENTS: Comment on: Am J Hum Genet 2000 Jul;67(1):23-36
AUTHOR(S): Urban-Z; Boyd-CD
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Hum-Genet. 2000 Jul; 67(1): 4-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0002-9297
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: beta-Galactosidase-deficiency; beta-Galactosidase-genetics; beta-Galactosidase-metabolism; Biological-Transport; Connective-Tissue-Diseases-enzymology; Connective-Tissue-Diseases-genetics; Connective-Tissue-Diseases-pathology; Elastic-Tissue-enzymology; Elastic-Tissue-pathology; Elastic-Tissue-physiopathology; Gangliosidosis-GM1-enzymology; Gangliosidosis-GM1-genetics; Gangliosidosis-GM1-metabolism; Gangliosidosis-GM1-pathology; Human-; Marfan-Syndrome-genetics; Marfan-Syndrome-metabolism; Marfan-Syndrome-pathology; Menkes-Kinky-Hair-Syndrome-genetics; Menkes-Kinky-Hair-Syndrome-metabolism; Menkes-Kinky-Hair-Syndrome-pathology; Mucopolysaccharidosis-I-genetics; Mucopolysaccharidosis-I-metabolism; Mucopolysaccharidosis-I-pathology; Mucopolysaccharidosis-IV-enzymology; Mucopolysaccharidosis-IV-genetics; Mucopolysaccharidosis-IV-metabolism; Mucopolysaccharidosis-IV-pathology; Syndrome-; Williams-Syndrome-genetics; Williams-Syndrome-metabolism; Williams-Syndrome-pathology
MAJOR MeSH HEADINGS: *Connective-Tissue-Diseases-metabolism; *Elastic-Tissue-metabolism
CHECKTAGS: Human
PUBLICATION TYPE: COMMENT; EDITORIAL
CAS REGISTRY NUMBER OR EC NUMBER: EC 3.2.1.23
NAME OF SUBSTANCE: beta-Galactosidase
MEDLINE ACCESSION NUMBER: 20307171
UPDATE CODE: 200010
Record 9 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Isolation and characterization of BEN, a member of the TFII-I family of DNA-binding proteins containing distinct helix-loop-helix domains.
AUTHOR(S): Bayarsaihan-D; Ruddle-FH
ADDRESS OF AUTHOR: Department of Molecular, Cellular, and Developmental Biology, Kline Biology Tower, Yale University, 266 Whitney Avenue, New Haven, CT 06520, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Proc-Natl-Acad-Sci-U-S-A. 2000 Jun 20; 97(13): 7342-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0027-8424
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: The transcriptional regulation of the Hoxc8 gene is controlled during early mouse embryogenesis by an enhanceosome-like control region, termed the early enhancer (EE), located 3 kb upstream from the Hoxc8 translation start site. The EE is involved in establishing the posterior expression pattern of Hoxc8 at embryonic day (E) 8.5-9. 0. Genetic and biochemical data have shown that nuclear factors interact with this region in a sequence-specific manner. We have used a yeast one-hybrid screen in a search for transcription factors that bind to EE motifs and have isolated a novel murine DNA-binding protein, termed BEN (binding factor for early enhancer). The ORF of BEN encodes a protein of 1072 amino acids and contains six helix-loop-helix domains, a hydrophobic leucine zipper-like motif, and a serine-rich repeat. The murine BEN gene is structurally similar to the human gene TFII-I in that both genes encode unique 95-amino acid long helix-loop/span-helix domains. The BEN gene produces several major transcripts (3.6, 4.4, and 5.9 kb) present in most adult tissues and shows discrete spatial and temporal domains of expression in areas of epithelial-mesenchymal interaction during mouse embryogenesis from E9.5 to E12.5. Several BEN-encoded polypeptides of different sizes ranging from 165 to 40 kDa were identified by Western blot analysis using BEN-specific polyclonal Abs. We propose, on the bases of sequence homology, that BEN is the mouse ortholog of the recently described human gene, WBSCR11, known also as GTF2IRD1, GTF3, Cream1, and MusTRD1. This gene is deleted hemizygously in individuals with Williams Syndrome, an autosomal dominant genetic condition characterized by complex physical, cognitive, and behavioral traits resulting from a perturbed developmental process.
MINOR MESH HEADINGS: Amino-Acid-Sequence; Base-Sequence; Mice-; Molecular-Sequence-Data; Nuclear-Proteins-genetics; Nuclear-Proteins-isolation-and-purification; Organ-Specificity; Saccharomyces-cerevisiae; Sequence-Alignment; Sequence-Analysis; Williams-Syndrome-genetics
MAJOR MeSH HEADINGS: *DNA-Binding-Proteins-genetics; *DNA-Binding-Proteins-isolation-and-purification; *Helix-Loop-Helix-Motifs; *Nuclear-Proteins; *Transcription-Factors-genetics; *Transcription-Factors-isolation-and-purification
CHECKTAGS: Animal; Human; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: GM096637GMNIGMS
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 0; 0
NAME OF SUBSTANCE: BEN-protein; DNA-Binding-Proteins; Nuclear-Proteins; Transcription-Factors; TFII-I
MEDLINE ACCESSION NUMBER: 20319028
UPDATE CODE: 200010
SECONDARY SOURCE IDENTIFIER: GENBANK/AF260133
Record 10 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes.
AUTHOR(S): Botta-A; Novelli-G; Mari-A; Novelli-A; Sabani-M; Korenberg-J; Osborne-LR; Digilio-MC; Giannotti-A; Dallapiccola-B
ADDRESS OF AUTHOR: Department of Biopathology and Diagnostic Imaging, Tor Vergata University of Rome, Italy.
SOURCE (BIBLIOGRAPHIC CITATION): J-Med-Genet. 1999 Jun; 36(6): 478-80
INTERNATIONAL STANDARD SERIAL NUMBER: 0022-2593
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: We present two patients with the full Williams syndrome (WS) phenotype carrying a smaller deletion than typically observed. The deleted region spans from the elastin gene to marker D7S1870. This observation narrows the minimal region of deletion in WS and suggests that the syntaxin 1A and frizzled genes are not responsible for the major features of this developmental disorder and provides important insight into understanding the genotype-phenotype correlation in WS.
MINOR MESH HEADINGS: Antigens,-Surface-genetics; Child-; Child,-Preschool; Genotype-; In-Situ-Hybridization,-Fluorescence; Nerve-Tissue-Proteins-genetics; Phenotype-; Physical-Chromosome-Mapping; Receptors,-Cell-Surface-genetics; Williams-Syndrome-pathology
MAJOR MeSH HEADINGS: *Chromosome-Deletion; *Chromosomes,-Human,-Pair-7-genetics; *Williams-Syndrome-genetics
CHECKTAGS: Case-Report; Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 0; 147338-67-8
NAME OF SUBSTANCE: Antigens,-Surface; FZD3-protein; Nerve-Tissue-Proteins; Receptors,-Cell-Surface; HPC-1-antigen,-rat
MEDLINE ACCESSION NUMBER: 20332812
UPDATE CODE: 200009
Record 11 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Williams-Beuren syndrome: genes and mechanisms.
AUTHOR(S): Francke-U
ADDRESS OF AUTHOR: Howard Hughes Medical Institute and Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305-5323, USA. francke@cmgm.stanford.edu
SOURCE (BIBLIOGRAPHIC CITATION): Hum-Mol-Genet. 1999; 8(10): 1947-54
INTERNATIONAL STANDARD SERIAL NUMBER: 0964-6906
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Williams-Beuren syndrome (WBS; OMIM 194050) is caused by heterozygous deletions of approximately 1.6 Mb of chromosomal sub-band 7q11.23. The deletions are rather uniform in size as they arise spontaneously by inter- or intrachromosomal crossover events within misaligned duplicated regions of high sequence identity that flank the typical deletion. This review will discuss the status of the molecular characterization of the deletion and flanking regions, the genes identified in the deletion region and their possible roles in generating the complex multi-system clinical phenotype.
MINOR MESH HEADINGS: Cytogenetic-Analysis; Genes-genetics; Linkage-Genetics-genetics; Phenotype-
MAJOR MeSH HEADINGS: *Chromosome-Deletion; *Chromosomes,-Human,-Pair-7-genetics; *Williams-Syndrome-genetics; *Williams-Syndrome-physiopathology
CHECKTAGS: Human; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
MEDLINE ACCESSION NUMBER: 99400534
UPDATE CODE: 200009
Record 12 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Williams-Beuren syndrome 35 years after the diagnosis in one of the first Beuren patients [letter]
AUTHOR(S): Pankau-R; Partsch-CJ; Gosch-A; Siebert-R; Schneider-M; Schneppenheim-R; Winter-M; Wessel-A
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 2000 Apr 10; 91(4): 322-4
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Adult-; Age-Factors; Child,-Preschool; Chromosome-Deletion; Chromosomes,-Human,-Pair-7-genetics; Follow-Up-Studies
MAJOR MeSH HEADINGS: *Williams-Syndrome-genetics
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: LETTER
MEDLINE ACCESSION NUMBER: 20229414
UPDATE CODE: 200008
Record 13 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: WBSCR14, a putative transcription factor gene deleted in Williams-Beuren syndrome: complete characterisation of the human gene and the mouse ortholog.
AUTHOR(S): de-Luis-O; Valero-MC; Jurado-LA
ADDRESS OF AUTHOR: Servicio de Genetica, Hospital Universitario La Paz, Madrid, Spain.
SOURCE (BIBLIOGRAPHIC CITATION): Eur-J-Hum-Genet. 2000 Mar; 8(3): 215-22
INTERNATIONAL STANDARD SERIAL NUMBER: 1018-4813
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder affecting several systems caused by a heterozygous deletion in the chromosomal region 7q11.23. A common interval that includes up to 17 genes reported so far is deleted in the great majority of patients. Elastin haploinsufficiency is responsible for the cardiovascular features, but the specific contribution of other deleted genes to the WBS phenotype remains unknown. We have fully characterised a gene commonly deleted in WBS, WBSCR14, previously reported in a truncated form as WS-bHLH. The WBSCR14 cDNA encodes an 852amino acid protein with a basic helix-loop-helix-leucine-zipper motif (bHLHZip) and a bipartite nuclear localisation signal (BNLS), suggesting a function as a transcription factor. WBSCR14 is expressed as a 4.2kb transcript predominantly in adult liver and at late stages of foetal development. The WBSCR14 locus encompasses 33 kb of genomic DNA with 17 exons. Two intragenic polymorphic dinucleotide repeats have been identified and used to verify hemizygosity in WBS patients. We have also cloned the mouse ortholog and mapped its locus to mouse chromosome 5, in a region of conserved synteny with human 7q11.23. Given that other bHLHZip proteins are dosage sensitive and based on the putative function of WBSCR14 as a transcription factor, hemizygosity at this locus could be involved in some features of WBS.
MINOR MESH HEADINGS: Adult-; Amino-Acid-Sequence; Chromosome-Mapping; Exons-; Introns-; Mice-; Molecular-Sequence-Data; Sequence-Homology,-Amino-Acid
MAJOR MeSH HEADINGS: *Chromosome-Deletion; *Chromosomes,-Human,-Pair-7; *Transcription-Factors-genetics; *Williams-Syndrome-genetics
CHECKTAGS: Animal; Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0
NAME OF SUBSTANCE: Transcription-Factors; WBSCR14-protein
MEDLINE ACCESSION NUMBER: 20241700
UPDATE CODE: 200008
Record 14 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: [Congenital tubular supravalvular aortic stenosis with massive coronary artery dilatation in a 35-year-old man]
ORIGINAL TITLE: Kongenitale, tubulare supravalvulare Aortenstenose mit massiver Koronararteriendilatation bei einem 35-jahrigen Mann.
AUTHOR(S): Bischoff-D; Fassbender-D; Piper-C; Hort-W; Korfer-R; Horstkotte-D
ADDRESS OF AUTHOR: Franziskus-Hospital, Innere Medizin, Bielefeld.
SOURCE (BIBLIOGRAPHIC CITATION): Z-Kardiol. 2000 Mar; 89(3): 199-205
INTERNATIONAL STANDARD SERIAL NUMBER: 0300-5860
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: GERMAN; NON-ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: Supravalvular aortic stenosis is a rare cause of left ventricular outflow obstruction in adults. It occurs as an isolated defect sporadically or on a hereditary basis with an autosomal dominant trait without further phenotypical anomalies, or as part of the Williams syndrome with mental retardation and multiple other anomalies. This lesion was proved to result from a defect of the elastin coding gene. Supravalvular aortic stenosis is frequently associated with cardiovascular defects, particularly of the peripheral pulmonary arteries, thoracic aorta, carotid, subclavian, and coronary arteries and the aortic valve. The coronary arteries are subject to an increased perfusion pressure leading to dilatation, tortuosity and accelerated arteriosclerosis. We give details of a 35-year-old patient in whom a previously asymptomatic supravalvular aortic stenosis is associated with an excessive dilatation of the right coronary artery and the left anterior descending coronary artery as well as an ostium stenosis of the left common carotid artery. The patient did not present any phenotypical anomalies of the Williams syndrome.
MINOR MESH HEADINGS: Adult-; Aortic-Valve-Stenosis-complications; Aortic-Valve-Stenosis-diagnosis; Aortography-; Coronary-Angiography; Coronary-Disease-diagnosis; Dilatation,-Pathologic; Echocardiography-; Electrocardiography-; English-Abstract; Heart-Catheterization
MAJOR MeSH HEADINGS: *Aortic-Valve-Stenosis-congenital; *Coronary-Disease-complications; *Williams-Syndrome-diagnosis
CHECKTAGS: Case-Report; Comparative-Study; English-Abstract; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20258611
UPDATE CODE: 200007
Record 15 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Search for coeliac disease susceptibility loci on 7q11.23 candidate region: absence of association with the ELN17 microsatellite marker.
AUTHOR(S): Grillo-R; Petronzelli-F; Mora-B; Bonamico-M; Mazzilli-MC
ADDRESS OF AUTHOR: Department of Experimental Medicine, University of Rome La Sapienza, Rome, Italy.
SOURCE (BIBLIOGRAPHIC CITATION): Hum-Hered. 2000 May-Jun; 50(3): 180-3
INTERNATIONAL STANDARD SERIAL NUMBER: 0001-5652
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: SWITZERLAND
ABSTRACT: The involvement of HLA genes in the susceptibility to coeliac disease (CD) has been well documented and represents the only consistently observed genetic feature of this multifactorial disease. In the present study, the search for new susceptibility genes has been devoted to a candidate region suggested by the association of CD with Williams syndrome (WS). This genetic disorder is due to a deletion in the 7q11.23 region that includes the elastin (ELN) gene. An increased prevalence of CD in WS patients has been previously reported and a case of CD-WS is also described in the present study. We used the ELN17 microsatellite marker mapped within the ELN gene to look for a possible contribution of this region to the susceptibility to CD. The analysis of 74 Italian CD families provided no evidence of association with the ELN17 marker. Copyright 2000 S. Karger AG, Basel.
MINOR MESH HEADINGS: Alleles-; DNA-Probes,-HLA; Family-Health; Genetic-Predisposition-to-Disease; Linkage-Disequilibrium; Monte-Carlo-Method; Pedigree-; Williams-Syndrome-genetics
MAJOR MeSH HEADINGS: *Celiac-Disease-genetics; *Chromosomes,-Human,-Pair-7; *Elastin-genetics; *Microsatellite-Repeats
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 9007-58-3
NAME OF SUBSTANCE: DNA-Probes,-HLA; Elastin
MEDLINE ACCESSION NUMBER: 20153497
UPDATE CODE: 200007
Record 16 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype.
AUTHOR(S): Prasad-C; Prasad-AN; Chodirker-BN; Lee-C; Dawson-AK; Jocelyn-LJ; Chudley-AE
ADDRESS OF AUTHOR: Section of Genetics and Metabolism, University of Manitoba, Winnipeg, Canada. cprasad@hsc.mb.ca
SOURCE (BIBLIOGRAPHIC CITATION): Clin-Genet. 2000 Feb; 57(2): 103-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0009-9163
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: DENMARK
ABSTRACT: The evaluation of mental retardation is always a challenge to clinicians. The recognition of specific physical or behavioral characteristics can vastly improve diagnostic yield. Several genetic disorders have been identified to have certain behavioral characteristics, such as Williams syndrome, Smith-Magenis syndrome, and the velocardiofacial syndrome (VCFS). The deletion affecting the chromosome 22q in the most distal band (22q13) appears to define yet another neurobehavioral phenotype. In addition to our report, there are about 17 other cases published of this particular deletion syndrome. We describe three children who share features of developmental delay and pervasive behaviors in addition to normal to advanced growth patterns. Results of cytogenetic analysis suggest that the 3 patients share a deletion affecting the terminal 22q13 region. Two were found to have a cryptic deletion, in the third it was detected by conventional cytogenetics. The cryptic deletions were demonstrated using fluorescent in situ hybridization (FISH), where the control probe for the DiGeorge/VCFS region was deleted. While there remain gaps in our understanding of this particular deletion syndrome, we propose that patients with normal or advanced growth, significantly delayed speech, deviant development and pervasive behaviors, with minor facial dysmorphism, be screened for this deletion.
MINOR MESH HEADINGS: Autistic-Disorder-genetics; Child-; Facies-; In-Situ-Hybridization,-Fluorescence; Phenotype-; Syndrome-
MAJOR MeSH HEADINGS: *Chromosome-Deletion; *Chromosomes,-Human,-Pair-22; *Developmental-Disabilities-genetics; *Mental-Retardation-genetics
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20197677
UPDATE CODE: 200007
Record 17 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Images in congenital heart disease. Transient intimal aneurismal formation during an aortogram using a pigtail catheter.
AUTHOR(S): Thomson-JD; Veldtman-GR; Uzun-O
ADDRESS OF AUTHOR: Paediatric Cardiac Unit, Yorkshire Heart Centre, Leeds General Infirmary, UK. jthomson@ulth.northy.nhs.uk
SOURCE (BIBLIOGRAPHIC CITATION): Cardiol-Young. 2000 Jan; 10(1): 73-4
INTERNATIONAL STANDARD SERIAL NUMBER: 1047-9511
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
MINOR MESH HEADINGS: Angiocardiography-; Child-
MAJOR MeSH HEADINGS: *Aortic-Aneurysm,-Thoracic-etiology; *Aortic-Valve-Stenosis-radiography; *Heart-Catheterization-adverse-effects; *Heart-Catheterization-instrumentation; *Williams-Syndrome
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20158096
UPDATE CODE: 200007
Record 18 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Deletion (9) (p13.1 p21.1).
AUTHOR(S): Scaglia-F; Bodamer-OA; Berend-SA; Adam-LR; Shaffer-LG
ADDRESS OF AUTHOR: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 2000 Mar 13; 91(2): 113-5
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We report on a 22-month-old girl with minor facial anomalies, global developmental delay, growth retardation, seizures, and leukoencephalopathy. Initial clinical assessment suggested the diagnosis of Williams syndrome. Results of fluorescence in situ hybridization testing for elastin were normal. However, chromosome analysis showed a 46,XX,del(9)(p13.1p21.1) karyotype in peripheral lymphocytes. Parental chromosomes were normal, indicating a de novo deletion. This patient's manifestations are compared with those of two other cases with overlapping deletions of the proximal short arm of chromosome 9. Copyright 2000 Wiley-Liss, Inc.
MINOR MESH HEADINGS: Chromosome-Banding; Face-abnormalities; Facies-; Infant-; Models,-Genetic; Monosomy-
MAJOR MeSH HEADINGS: *Chromosome-Deletion; *Chromosomes,-Human,-Pair-9; *Dementia,-Vascular-genetics; *Developmental-Disabilities-genetics
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20213193
UPDATE CODE: 200006
Record 19 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: [The best of pediatric cardiology in 1999]
ORIGINAL TITLE: L'essentiel de 1999 en cardiologie pediatrique.
AUTHOR(S): Kachaner-J
ADDRESS OF AUTHOR: Service de Cardiologie Pediatrique, Hopital Necker-Enfants malades, Paris.
SOURCE (BIBLIOGRAPHIC CITATION): Arch-Mal-Coeur-Vaiss. 2000 Jan; 93(1 Spec No): 63-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0003-9683
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: FRENCH; NON-ENGLISH
COUNTRY OF PUBLICATION: FRANCE
ABSTRACT: Paediatric cardiology is a dynamic field of progress for results. Those which have marked the year 1999 include the introduction of new techniques of cardiovascular imaging and interventional cardiology, and the new consequences of collaboration with workers in foetal cardiology and medical and molecular genetics. The advances in imaging are the result of those of microprocessors which enable three-dimensional reconstruction of ultrasonic, radiological or magnetic resonance images. This provides intracardiac or intravascular views which are very similar to those seen by the surgeon. This is a major tool for improving the diagnosis and treatment of congenital heart disease. Similarly, the introduction of programmes of tissue recognition enables fine ultrasonic analysis of the vascular wall and of endothelial function leading to the opening of a new chapter of preventive vascular medicine from the earliest age. Paediatric interventional cardiology has also progressed rapidly and the past year has been that of a consensus on the closure of a great number of atrial septal defects by new prostheses implanted and anchored in a simpler and safer manner. Prenatal diagnosis has become a crucial factor in the treatment and prognosis of congenital heart disease which is life-threatening in the first hours of life, explaining the benefit when this is applied to transposition of the great vessels or to coarctation of the aorta. Finally, advances in genetics have led to the identification of several genes of heart malformations and the correlations between interstitial microdeletions and syndromes often associated with heart disease: chromosome 22q11 and the Di George syndrome, chromosome 7q and the Williams syndrome. They have even allowed linking of myocardial and cerebellar abnormalities of a degenerative neuropathy (Friedreich's disease) to an abnormality of the mitochondrial respiratory chain, thus giving the opportunity of a real treatment.
MINOR MESH HEADINGS: Child-; Child,-Preschool; Echocardiography-; English-Abstract; Heart-Diseases-congenital; Heart-Diseases-therapy; Infant-; Infant,-Newborn; Pregnancy-; Prenatal-Diagnosis; Risk-Factors
MAJOR MeSH HEADINGS: *Cardiology-trends; *Diagnosis,-Computer-Assisted; *Heart-Diseases-diagnosis; *Pediatrics-trends
CHECKTAGS: English-Abstract; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
MEDLINE ACCESSION NUMBER: 20186227
UPDATE CODE: 200006
Record 20 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: De novo 46,XX,t(6;7)(q27;q11;23) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome.
AUTHOR(S): von-Dadelszen-P; Chitayat-D; Winsor-EJ; Cohen-H; MacDonald-C; Taylor-G; Rose-T; Hornberger-LK
ADDRESS OF AUTHOR: Department of Obstetrics and Gynecology, Women's College Hospital, Toronto, Ontario, Canada.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 2000 Feb 14; 90(4): 270-5
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Supravalvular aortic stenosis may present as an isolated finding or as part of Williams syndrome. Williams syndrome is a contiguous gene syndrome associated with neurodevelopmental and multisystemic manifestations caused by hemizygous deletion at 7q11.23. We report on the prenatal and histopathological findings in a patient with a chromosome translocation involving the Williams syndrome critical region. The initial abnormality on fetal ultrasound was hydrops fetalis detected at 30 weeks and echocardiography showed narrowing of the aorta and the pulmonary arteries. The baby died shortly after delivery and an autopsy revealed diffuse tubular thickening with luminal narrowing of the aorta, aortic branches, and the pulmonary arteries. Histopathology showed dysplasia of the media with reduced elastic content and "cartwheel" arrangement of collagen, elastic, and muscle fascicles. The karyotype was 46,XX,t(6;7)(q27;q11.23). Three signals were detected using the Oncor fluorescent in situ hybridization probe for elastin-Williams syndrome (WSCR) suggesting that the break in chromosome 7 is within the elastin-Williams gene. This patient is of special interest because of the prenatal presentation and the chromosomal translocation involving the elastin-Williams syndrome locus.
MINOR MESH HEADINGS: Infant,-Newborn; Karyotyping-; Magnetic-Resonance-Imaging; Ultrasonography,-Prenatal
MAJOR MeSH HEADINGS: *Aortic-Valve-Stenosis-genetics; *Chromosomes,-Human,-Pair-6; *Chromosomes,-Human,-Pair-7; *Heart-Defects,-Congenital-genetics; *Translocation-Genetics; *Williams-Syndrome-genetics
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20173456
UPDATE CODE: 200006
Record 21 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Elastin gene deletions in Williams syndrome patients result in altered deposition of elastic fibers in skin and a subclinical dermal phenotype.
AUTHOR(S): Urban-Z; Peyrol-S; Plauchu-H; Zabot-MT; Lebwohl-M; Schilling-K; Green-M; Boyd-CD; Csiszar-K
ADDRESS OF AUTHOR: Pacific Biomedical Research Center, University of Hawaii, Honolulu 96822, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Pediatr-Dermatol. 2000 Jan-Feb; 17(1): 12-20
INTERNATIONAL STANDARD SERIAL NUMBER: 0736-8046
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Williams syndrome (WS) is a complex developmental disorder with multisystem involvement known to be the result of a microdeletion in the q11.23 region of chromosome 7. This deletion involves several genes, including the elastin gene. Although elastic fibers are important constituents of skin, little is known about the skin phenotype in WS patients. We have therefore studied the skin of four WS patients in which we've shown the deletion of one copy of the elastin gene. Physical examination and indirect immunofluorescent microscopy of elastin did not detect any major phenotypic or morphologic changes in the skin. We were able, however, to show subtle textural changes in skin and, by electron microscopy, that the amorphous component of elastic fibers in WS patients was consistently reduced when compared to normal controls. These findings indicate that deletion of one copy of the elastin gene results in reduced deposition of elastin in dermal elastic fibers, an altered elastic fiber ultrastructure, and a subclinical dermal phenotype in the children and young adult patients analyzed in this study.
MINOR MESH HEADINGS: Adult-; Child-; Child,-Preschool; Elastic-Tissue-ultrastructure; Phenotype-; Williams-Syndrome-diagnosis
MAJOR MeSH HEADINGS: *Elastic-Tissue-pathology; *Elastin-genetics; *Gene-Deletion; *Skin-pathology; *Williams-Syndrome-genetics
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: RR0306112RRNCRR; HL50665HLNHLBI
CAS REGISTRY NUMBER OR EC NUMBER: 9007-58-3
NAME OF SUBSTANCE: Elastin
MEDLINE ACCESSION NUMBER: 20188822
UPDATE CODE: 200006
Record 22 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: STAG3, a novel gene encoding a protein involved in meiotic chromosome pairing and location of STAG3-related genes flanking the Williams-Beuren syndrome deletion.
AUTHOR(S): Pezzi-N; Prieto-I; Kremer-L; Perez-Jurado-LA; Valero-C; Del-Mazo-J; Martinez-A-C; Barbero-JL
ADDRESS OF AUTHOR: Department of Immunology and Oncology, Centro Nacional de Biotecnologia, UAM Campus de Cantoblanco, Madrid E-28049, Spain.
SOURCE (BIBLIOGRAPHIC CITATION): FASEB-J. 2000 Mar; 14(3): 581-92
INTERNATIONAL STANDARD SERIAL NUMBER: 0892-6638
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Chromatin rearrangements in the meiotic prophase are characterized by the assembly and disassembly of synaptonemal complexes (SC), a protein structure that stabilizes the pairing of homologous chromosomes in prophase. We report the identification of human and mouse cDNA coding for stromalin 3 (STAG3), a new mammalian stromalin member of the synaptonemal complex. The stromalins are a group of highly conserved proteins, represented in several organisms from yeast to humans. Stromalins are characterized by the stromalin conservative domain (SCD), a specific motif found in all proteins of the family described to date. STAG3 is expressed specifically in testis, and immunolocalization experiments show that STAG3 is associated to the synaptonemal complex. As the protein encoded by the homologous gene (Scc3p) in Saccharomyces cerevisiae was found to be a subunit of a cohesin complex that binds chromosomes until the onset of anaphase, our data suggest that STAG3 is involved in chromosome pairing and maintenance of synaptonemal complex structure during the pachytene phase of meiosis in a cohesin-like manner. We have mapped the human STAG3 gene to the 7q22 region of chromosome 7; six human STAG3-related genes have also been mapped: two at 7q22 near the functional gene, one at 7q11.22, and three at 7q11.23, two of them flanking the breakpoints commonly associated with the Williams-Beuren syndrome (WBS) deletion. Since the WBS deletion occurs as a consequence of unequal meiotic crossing over, we suggest that STAG3 duplications predispose to germline chromosomal rearrangement within this region.
MINOR MESH HEADINGS: Amino-Acid-Sequence; Base-Sequence; Chromosome-Mapping; Exons-; Gene-Duplication; Gene-Library; Gene-Rearrangement; Haplorhini-; Introns-; Meiosis-genetics; Mice-; Mice,-Inbred-C57BL; Molecular-Sequence-Data; Muridae-; Sequence-Alignment; Sequence-Homology,-Amino-Acid; Synaptonemal-Complex-genetics; Testis-metabolism
MAJOR MeSH HEADINGS: *Chromosomes,-Human,-Pair-7; *Crossing-Over-Genetics; *Nuclear-Proteins-genetics; *Sequence-Deletion; *Williams-Syndrome-genetics
CHECKTAGS: Animal; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0
NAME OF SUBSTANCE: stromalin-3-protein; Nuclear-Proteins
MEDLINE ACCESSION NUMBER: 20164500
UPDATE CODE: 200006
SECONDARY SOURCE IDENTIFIER: GENBANK/AJ007798; GENBANK/AJ005678
Record 23 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Chiari I malformation in asymptomatic young children with Williams syndrome: clinical and MRI study.
AUTHOR(S): Mercuri-E; Atkinson-J; Braddick-O; Rutherford-MA; Cowan-FM; Counsell-SJ; Dubowitz-LM; Bydder-G
ADDRESS OF AUTHOR: Visual Development Unit, University College London, UK.
SOURCE (BIBLIOGRAPHIC CITATION): Europ-J-Paediatr-Neurol. 1997; 1(5-6): 177-81
INTERNATIONAL STANDARD SERIAL NUMBER: 1090-3798
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: We report clinical and magnetic resonance imaging findings in two young children, aged 2 years 4 months and 3 years, with Williams syndrome. Both showed a mild global delay, although their neurological examination was completely normal. Their magnetic resonance imaging, however, showed Chiari I malformation and some non-specific changes in the centrum semiovale and in the white matter posterior to the lateral ventricles. Cerebellar tonsils were displaced through the foramen magnum 8.5 and 7.5 mm respectively. Our results suggest that Chiari I malformation can also be a frequent feature in subjects with Williams syndrome even in the absence of overt neurological signs suggestive of it. Whether these children might develop acute signs later is not known at present. Further studies are needed not only to evaluate the incidence of these findings in the global population of subjects with Williams syndrome but also to identify the children who are at risk for developing acute neurological signs.
MINOR MESH HEADINGS: Arnold-Chiari-Malformation-diagnosis; Brain-pathology; Child,-Preschool; Follow-Up-Studies; Williams-Syndrome-diagnosis
MAJOR MeSH HEADINGS: *Arnold-Chiari-Malformation-genetics; *Magnetic-Resonance-Imaging; *Williams-Syndrome-genetics
CHECKTAGS: Case-Report; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20192459
UPDATE CODE: 200006
Record 24 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Williams syndrome and the elastin gene in Thai patients.
AUTHOR(S): Ruangdaraganon-N; Tocharoentanaphol-C; Kotchabhakdi-N; Khowsathit-P
ADDRESS OF AUTHOR: Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
SOURCE (BIBLIOGRAPHIC CITATION): J-Med-Assoc-Thai. 1999 Nov; 82 Suppl 1: S174-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0125-2208
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: THAILAND
ABSTRACT: Williams syndrome (WS) has long been known as a complex disorder of dysmorphic facial features, described as elfin face, mental retardation or learning disability, loquacious personality, and supravalvular aortic stenosis. The etiology is now known to be due to deletion of the elastin gene (ELN) on long arm of chromosome 7. Thai patients were previously reported by clinical diagnosis. This study reports the first two cases of WS with ELN deletion diagnosed by fluorescent in situ hybridization (FISH) technique. Clinically, hyperacusis is a common finding in WS associated with otitis media. Neither of the patients had hyperacusis, but one of them had bilateral sensorineural hearing loss, which to our knowledge, has never been reported.
MINOR MESH HEADINGS: Hearing-Loss,-Sensorineural-complications; Infant-; Thailand-; Williams-Syndrome-complications; Williams-Syndrome-genetics
MAJOR MeSH HEADINGS: *Elastin-genetics; *Gene-Deletion; *In-Situ-Hybridization,-Fluorescence; *Williams-Syndrome-diagnosis
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 9007-58-3
NAME OF SUBSTANCE: Elastin
MEDLINE ACCESSION NUMBER: 20194732
UPDATE CODE: 200006
Record 25 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Characterization and gene structure of a novel retinoblastoma-protein-associated protein similar to the transcription regulator TFII-I.
AUTHOR(S): Yan-X; Zhao-X; Qian-M; Guo-N; Gong-X; Zhu-X
ADDRESS OF AUTHOR: Shanghai Research Center of Life Sciences, Chinese Academy of Sciences, 320 Yue Yang Road, Shanghai 200031, China.
SOURCE (BIBLIOGRAPHIC CITATION): Biochem-J. 2000 Feb 1; 345 Pt 3: 749-57
INTERNATIONAL STANDARD SERIAL NUMBER: 0264-6021
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Retinoblastoma protein (Rb) is an important regulator of vertebrate cell cycle and development. It functions through a direct interaction with protein factors involved in cell cycle progression and differentiation. In the present study we characterized a novel Rb-associated protein, Cream1, which bound to Rb specifically through a C-terminal region. Cream1 contained 959 amino acid residues and migrated as a protein of approx. 120 kDa on SDS/PAGE. It was a widely expressed nuclear protein with a nuclear localization signal resembling that of the large T antigen of simian virus 40. Its primary sequence was characteristic of five direct repeats that were similar to, but distinct from, those of TFII-I, a multifunctional transcription regulator. Three additional regions were also highly conserved in both proteins. Cream1 exhibited an activation activity that was attributed to its N-terminal portion when assayed in yeast. Its relationship with the muscle-enhancer-binding protein MusTRD1 further suggests a role in regulating gene expression. The structural gene, CREAM1, contained 27 exons and spanned more than 150 kb. It was located at human chromosome 7q11.23 in a region deleted for Williams' syndrome, a neurodevelopmental disease with multisystem abnormalities, implying its involvement in certain disorders. Taken together, our results suggest that Cream1 might serve as a positive transcription regulator under the control of Rb.
MINOR MESH HEADINGS: Amino-Acid-Sequence; Cloning,-Molecular; DNA-Binding-Proteins-genetics; DNA-Binding-Proteins-metabolism; Molecular-Sequence-Data; Recombinant-Proteins-genetics; Recombinant-Proteins-immunology; Recombinant-Proteins-metabolism; Transcription-Factors-genetics; Transcription-Factors-metabolism; Transcription,-Genetic
MAJOR MeSH HEADINGS: *Chromosomes,-Human,-Pair-7; *Nuclear-Proteins-genetics; *Nuclear-Proteins-metabolism; *Retinoblastoma-Protein-metabolism; *Trans-Activators-genetics; *Trans-Activators-metabolism; *Williams-Syndrome-genetics
CHECKTAGS: Animal; Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 0; 0; 0; 0; 0; 0
NAME OF SUBSTANCE: Cream1-protein; DNA-Binding-Proteins; MusTRD1-protein; Nuclear-Proteins; Recombinant-Proteins; Retinoblastoma-Protein; Trans-Activators; Transcription-Factors; TFII-I
MEDLINE ACCESSION NUMBER: 20115113
UPDATE CODE: 200005
SECONDARY SOURCE IDENTIFIER: GENBANK/AF089107
Record 26 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23.
AUTHOR(S): Peoples-R; Franke-Y; Wang-YK; Perez-Jurado-L; Paperna-T; Cisco-M; Francke-U
ADDRESS OF AUTHOR: Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Hum-Genet. 2000 Jan; 66(1): 47-68
INTERNATIONAL STANDARD SERIAL NUMBER: 0002-9297
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Williams-Beuren syndrome (WBS) is a developmental disorder caused by haploinsufficiency for genes in a 2-cM region of chromosome band 7q11.23. With the exception of vascular stenoses due to deletion of the elastin gene, the various features of WBS have not yet been attributed to specific genes. Although >/=16 genes have been identified within the WBS deletion, completion of a physical map of the region has been difficult because of the large duplicated regions flanking the deletion. We present a physical map of the WBS deletion and flanking regions, based on assembly of a bacterial artificial chromosome/P1-derived artificial chromosome contig, analysis of high-throughput genome-sequence data, and long-range restriction mapping of genomic and cloned DNA by pulsed-field gel electrophoresis. Our map encompasses 3 Mb, including 1.6 Mb within the deletion. Two large duplicons, flanking the deletion, of >/=320 kb contain unique sequence elements from the internal border regions of the deletion, such as sequences from GTF2I (telomeric) and FKBP6 (centromeric). A third copy of this duplicon exists in inverted orientation distal to the telomeric flanking one. These duplicons show stronger sequence conservation with regard to each other than to the presumptive ancestral loci within the common deletion region. Sequence elements originating from beyond 7q11.23 are also present in these duplicons. Although the duplicons are not present in mice, the order of the single-copy genes in the conserved syntenic region of mouse chromosome 5 is inverted relative to the human map. A model is presented for a mechanism of WBS-deletion formation, based on the orientation of duplicons' components relative to each other and to the ancestral elements within the deletion region.
MINOR MESH HEADINGS: Evolution,-Molecular; Mice-; Models,-Genetic; Molecular-Sequence-Data; Physical-Chromosome-Mapping
MAJOR MeSH HEADINGS: *Chromosome-Deletion; *Chromosomes,-Human,-Pair-7; *Williams-Syndrome-genetics
CHECKTAGS: Animal; Human; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: HD00298HDNICHD; HD33505HDNICHD; GM08404GMNIGMS
MEDLINE ACCESSION NUMBER: 20100608
UPDATE CODE: 200005
Record 27 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: A family of chromatin remodeling factors related to Williams syndrome transcription factor.
AUTHOR(S): Bochar-DA; Savard-J; Wang-W; Lafleur-DW; Moore-P; Cote-J; Shiekhattar-R
ADDRESS OF AUTHOR: The Wistar Institute, 3601 Spruce Street, Philadelphia, PA 19104, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Proc-Natl-Acad-Sci-U-S-A. 2000 Feb 1; 97(3): 1038-43
INTERNATIONAL STANDARD SERIAL NUMBER: 0027-8424
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Chromatin remodeling complexes have been implicated in the disruption or reformation of nucleosomal arrays resulting in modulation of transcription, DNA replication, and DNA repair. Here we report the isolation of WCRF, a new chromatin-remodeling complex from HeLa cells. WCRF is composed of two subunits, WCRF135, the human homolog of Drosophila ISWI, and WCRF180, a protein related to the Williams syndrome transcription factor. WCRF180 is a member of a family of proteins sharing a putative heterochromatin localization domain, a PHD finger, and a bromodomain, prevalent in factors involved in regulation of chromatin structure.
MINOR MESH HEADINGS: Adenosinetriphosphatase-genetics; Adenosinetriphosphatase-physiology; Amino-Acid-Sequence; Chromatin-ultrastructure; Deoxyribonuclease-I-metabolism; Drosophila-melanogaster-genetics; DNA-Binding-Proteins-metabolism; Fungal-Proteins-physiology; Hela-Cells; Macromolecular-Systems; Molecular-Sequence-Data; Neoplasm-Proteins-genetics; Neoplasm-Proteins-isolation-and-purification; Neoplasm-Proteins-physiology; Nucleosomes-metabolism; Protein-Structure,-Tertiary; Ribonucleoprotein,-U1-Small-Nuclear-physiology; Sequence-Homology,-Amino-Acid; Species-Specificity; Transcription-Factors-chemistry; Transcription-Factors-genetics; Transcription-Factors-metabolism; Transcription-Factors-physiology
MAJOR MeSH HEADINGS: *Adenosinetriphosphatase-isolation-and-purification; *Chromatin-metabolism; *Transcription-Factors-isolation-and-purification; *Williams-Syndrome-genetics
CHECKTAGS: Animal; Comparative-Study; Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: EC 3.1.21.1; EC 3.6.1.3; 0; 0; 0; 0; 0; 0; 0; 0; 0; 0; 0; 136219-48-2
NAME OF SUBSTANCE: Deoxyribonuclease-I; Adenosinetriphosphatase; Chromatin; DNA-Binding-Proteins; Fungal-Proteins; ISWI-protein; Macromolecular-Systems; Neoplasm-Proteins; Nucleosomes; Ribonucleoprotein,-U1-Small-Nuclear; SNF-protein; Transcription-Factors; WCRF180-protein; SNF2-protein
MEDLINE ACCESSION NUMBER: 20122567
UPDATE CODE: 200005
SECONDARY SOURCE IDENTIFIER: GENBANK/AF221130
Record 28 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Expression analysis and protein localization of the human HPC-1/syntaxin 1A, a gene deleted in Williams syndrome.
AUTHOR(S): Botta-A; Sangiuolo-F; Calza-L; Giardino-L; Potenza-S; Novelli-G; Dallapiccola-B
ADDRESS OF AUTHOR: Dipartimento di Biopatologia e Diagnostica per Immagini, Universita Tor Vergata, Italy.
SOURCE (BIBLIOGRAPHIC CITATION): Genomics. 1999 Dec 15; 62(3): 525-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0888-7543
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: The HPC-1/syntaxin 1A (STX1A) gene maps to the Williams syndrome (WS) commonly deleted region on chromosome 7q11.23 and encodes a protein implicated in the docking of synaptic vesicles with the presynaptic plasma membrane. To assess the potential role of STX1A in the WS phenotype, we carried out expression studies at the RNA and protein levels, in fetal and adult human tissues. RNA in situ hybridization on human embryo sections showed strong STX1A expression in spinal cord and ganglia. However, in adulthood, this gene was preferentially expressed in brain, as shown by Northern blot and RT-PCR experiments. Marked expression levels were observed in cerebellum and cerebral cortex. The STX1A protein was prevalently distributed in the molecular layer of the cerebellar cortex. A qualitative and quantitative analysis using a specific anti-STX1A antibody did not disclose any significant difference among frontal, temporal, and occipital poles of the human adult cortex in the two hemispheres. This is the first study focused on STX1A expression in humans. Our results indicate that this gene is strongly expressed in cerebral areas involved in cognitive process, supporting a likely role in the neurological symptoms of WS. Copyright 1999 Academic Press.
MINOR MESH HEADINGS: Blotting,-Northern; Cerebellum-metabolism; Cerebral-Cortex-metabolism; Chromosomes,-Human,-Pair-7-genetics; Densitometry-; Fetus-; Ganglia-metabolism; Immunoblotting-; In-Situ-Hybridization; Organ-Specificity-genetics; Reverse-Transcriptase-Polymerase-Chain-Reaction; RNA,-Messenger-biosynthesis; Spinal-Cord-metabolism
MAJOR MeSH HEADINGS: *Antigens,-Surface-biosynthesis; *Antigens,-Surface-genetics; *Gene-Deletion; *Gene-Expression-Regulation,-Developmental; *Nerve-Tissue-Proteins-biosynthesis; *Nerve-Tissue-Proteins-genetics; *Williams-Syndrome-genetics
CHECKTAGS: Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 147338-67-8
NAME OF SUBSTANCE: Antigens,-Surface; Nerve-Tissue-Proteins; RNA,-Messenger; HPC-1-antigen,-rat
MEDLINE ACCESSION NUMBER: 20112768
UPDATE CODE: 200005
Record 29 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Anaesthesia for MRI angiography in a patient with Williams syndrome [letter]
AUTHOR(S): Andrzejowski-J; Mundy-J
SOURCE (BIBLIOGRAPHIC CITATION): Anaesthesia. 2000 Jan; 55(1): 97-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0003-2409
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
MINOR MESH HEADINGS: Adult-; Heart-Murmurs-diagnosis; Williams-Syndrome
MAJOR MeSH HEADINGS: *Anesthesia-; *Anesthetics-administration-and-dosage; *Magnetic-Resonance-Angiography
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: LETTER
CAS REGISTRY NUMBER OR EC NUMBER: 0
NAME OF SUBSTANCE: Anesthetics
MEDLINE ACCESSION NUMBER: 20062341
UPDATE CODE: 200004
SUBSET: AIM
Record 30 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Difficulty in writing Japanese semantic characters in a 9-year-old boy with Williams syndrome.
AUTHOR(S): Nakamura-M; Hara-K; Watamaki-T; Nishimura-B; Kumagai-T; Matsumoto-A; Miura-K; Yamanaka-T; Hayakawa-C; Miyazaki-S
ADDRESS OF AUTHOR: Institute for Developmental Research, Aichi Human Service Centre, Japan. mihon@inst-hsc.pref.aichi.jp
SOURCE (BIBLIOGRAPHIC CITATION): J-Intellect-Disabil-Res. 1999 Dec; 43 ( Pt 6): 562-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0964-2633
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: A 9-year-old boy diagnosed as having Williams syndrome was evaluated using psychological test batteries in order to clarify his ability in language and visual cognition. The subject had difficulty in writing some of the Japanese semantic characters (called Kanji) which he could otherwise read and understand. Although he could write the small components of which the Kanji characters were composed, he could not locate these correctly. This phenomenon is considered to be very similar to the difficulty in copying a figure observed clinically. The Kaufmann Assessment Batteries for Children clearly revealed that the boy had difficulty with the sub-test of spatial memory compared to his average score for simultaneous processing. This result is considered to be closely related to the difficulty in copying figures or writing Kanji characters. On the Illinois Test of Psycholinguistic Abilities, the present authors found that the subject's vocabulary was relatively good, although semantic and pragmatic problems remained. Clarifying the strong and weak points of the abilities of such patients will help to determine the most appropriate mode of education for them.
MINOR MESH HEADINGS: Child-; Education-of-Mentally-Retarded; Japan-; Mental-Retardation-etiology; Semantics-; Space-Perception
MAJOR MeSH HEADINGS: *Apraxia,-Ideomotor-etiology; *Cognition-; *Mental-Retardation-psychology; *Williams-Syndrome-psychology; *Writing-
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20086085
UPDATE CODE: 200004
Record 31 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: [Williams syndrome]
ORIGINAL TITLE: La sindrome di Williams.
AUTHOR(S): Alleva-E; Cirulli-F; Calamandrei-G; Rondinini-C; Capirci-O; Aloe-L; Volterra-V
ADDRESS OF AUTHOR: Laboratorio di Fisiopatologia di Organo e di Sistema, Istituto Superiore di Sanita, Roma.
SOURCE (BIBLIOGRAPHIC CITATION): Ann-Ist-Super-Sanita. 1999; 35(2): 211-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0021-2571
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ITALIAN; NON-ENGLISH
COUNTRY OF PUBLICATION: ITALY
ABSTRACT: Williams syndrome (WS) is a rare (2-5/100,000) genetic human disorder characterised by a typical facies and mental retardation with a deficit in the visuospatial cognitive function and a relative preservation of linguistic abilities in general, and spoken language in particular. This syndrome also includes morphological anomalies, metabolic functional impairments, and likely deficits in the pattern of brain ontogenesis. The genetic basis of WS, recently identified, are presented. A cognitive profile of the WS individuals is defined and compared to Down syndrome (DS) and autism cognitive profiles. Neuroanatomical features of WS, including a reduction in brain volume, preservation of cerebellum and frontal lobes, and a reduction of posterior cortical systems, are described. The possible role of NGF (nerve growth factor)--a neurotrophin involved in the development of brain cholinergic systems and the associated behavioural functions--in the aetiology of the typical mental retardation of WS patients, is critically discussed. Future research avenues, including the identification of potential neurobiological markers in order to precociously diagnose this syndrome, are reviewed.
MINOR MESH HEADINGS: Biological-Markers; Cognition-Disorders-etiology; English-Abstract; Nerve-Growth-Factors-metabolism; Somatomedins-metabolism; Somatotropin-metabolism; Williams-Syndrome-genetics; Williams-Syndrome-metabolism; Williams-Syndrome-pathology; Williams-Syndrome-physiopathology
MAJOR MeSH HEADINGS: *Williams-Syndrome
CHECKTAGS: English-Abstract; Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 9002-72-6
NAME OF SUBSTANCE: Biological-Markers; Nerve-Growth-Factors; Somatomedins; Somatotropin
MEDLINE ACCESSION NUMBER: 20110249
UPDATE CODE: 200004
Record 32 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Supravalvular aortic stenosis, Williams syndrome and sudden death. A case report.
AUTHOR(S): Suarez-Mier-MP; Morentin-B
ADDRESS OF AUTHOR: Instituto de Toxicologia, Madrid, Spain. histop@mad.inaltox.es
SOURCE (BIBLIOGRAPHIC CITATION): Forensic-Sci-Int. 1999 Nov 22; 106(1): 45-53
INTERNATIONAL STANDARD SERIAL NUMBER: 0379-0738
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: IRELAND
ABSTRACT: Supravalvular aortic stenosis (SVAS) is an uncommon but well characterized congenital narrowing of the ascending aorta above the level of the coronary arteries. It can be a familial disorder, can occur sporadically, or associated with Williams syndrome (WS) which is a neurodevelopmental disorder affecting connective tissue and the central nervous system. Sudden death is a well-known complication of non-syndromic SVAS but few cases have been reported associated with WS. We present a case of sudden death in a woman with the diagnosis of SVAS and WS since the age of 3 years who refused surgical correction and died at the age of 27 years. At autopsy, the aorta and pulmonary trunk were narrowed and the walls showed peculiar microscopical characteristics. In the cardiac conduction system the His bundle was small and intramyocardial. The incidence, pathology, pathogenesis and prognosis of both conditions (SVAS and WS) are reviewed.
MINOR MESH HEADINGS: Adult-; Aortic-Valve-Stenosis-pathology; Child,-Preschool; Heart-Conduction-System-pathology
MAJOR MeSH HEADINGS: *Aortic-Valve-Stenosis-complications; *Death,-Sudden,-Cardiac-etiology; *Williams-Syndrome-complications
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20095431
UPDATE CODE: 200004
Record 33 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Micro-deletion detected by fluorescent in situ hybridization for Williams syndrome.
AUTHOR(S): Dewan-K; Borgaonkar-DS; Bartoshesky-LE; Tuttle-D
ADDRESS OF AUTHOR: Department of Pathology, Christiana Care Health Services, Newark, DE, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Del-Med-J. 1999 Nov; 71(11): 467-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0011-7781
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: In-Situ-Hybridization,-Fluorescence; Infant,-Newborn; Williams-Syndrome-diagnosis
MAJOR MeSH HEADINGS: *Chromosome-Deletion; *Chromosomes,-Human,-Pair-7; *Williams-Syndrome-genetics
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20082660
UPDATE CODE: 200003
Record 34 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Elastin region deletions in Williams syndrome.
AUTHOR(S): Zhang-J; Kumar-A; Roux-K; Williams-CA; Wallace-MR
ADDRESS OF AUTHOR: Department of Pediatrics, University of Florida College of Medicine, Gainesville 32610-0296, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Genet-Test. 1999; 3(4): 357-9
INTERNATIONAL STANDARD SERIAL NUMBER: 1090-6576
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Williams syndrome (WS) is considered a contiguous gene syndrome, with most patients having a 1.5-Mb deletion of chromosome 7q11.23 containing the elastin gene and flanking genes. Studies of the frequency, extent, and origin of these deletions are ongoing in many labs to discover ultimately the molecular and pathogenetic basis for WS. An analysis of 9 sporadic WS families with typical phenotypes was performed by genotyping polymorphisms in the region. This study revealed deletions in all 9 patients, with one showing a novel deletion extending much further centromeric than any other WS deletions yet reported.
MINOR MESH HEADINGS: Genetic-Markers; Heart-Defects,-Congenital-genetics; Polymorphism,-Restriction-Fragment-Length; Williams-Syndrome-etiology
MAJOR MeSH HEADINGS: *Elastin-genetics; *Sequence-Deletion; *Williams-Syndrome-genetics
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 9007-58-3
NAME OF SUBSTANCE: Genetic-Markers; Elastin
MEDLINE ACCESSION NUMBER: 20093413
UPDATE CODE: 200003
Record 35 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Proteins of the ADF/cofilin family: essential regulators of actin dynamics.
AUTHOR(S): Bamburg-JR
ADDRESS OF AUTHOR: Department of Biochemistry and Molecular Biology, Colorado State University, Fort Collins 80523, USA. jbamburg@amar.colostate.edu
SOURCE (BIBLIOGRAPHIC CITATION): Annu-Rev-Cell-Dev-Biol. 1999; 15: 185-230
INTERNATIONAL STANDARD SERIAL NUMBER: 1081-0706
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Ubiquitous among eukaryotes, the ADF/cofilins are essential proteins responsible for the high turnover rates of actin filaments in vivo. In vertebrates, ADF and cofilin are products of different genes. Both bind to F-actin cooperatively and induce a twist in the actin filament that results in the loss of the phalloidin-binding site. This conformational change may be responsible for the enhancement of the off rate of subunits at the minus end of ADF/cofilin-decorated filaments and for the weak filament-severing activity. Binding of ADF/cofilin is competitive with tropomyosin. Other regulatory mechanisms in animal cells include binding of phosphoinositides, phosphorylation by LIM kinases on a single serine, and changes in pH. Although vertebrate ADF/cofilins contain a nuclear localization sequence, they are usually concentrated in regions containing dynamic actin pools, such as the leading edge of migrating cells and neuronal growth cones. ADF/cofilins are essential for cytokinesis, phagocytosis, fluid phase endocytosis, and other cellular processes dependent upon actin dynamics.
MINOR MESH HEADINGS: Amino-Acid-Sequence; Evolution,-Molecular; Intracellular-Fluid-metabolism; Intracellular-Fluid-physiology; Kidney-Diseases-pathology; Microfilament-Proteins-chemistry; Microfilament-Proteins-classification; Microfilament-Proteins-genetics; Molecular-Sequence-Data; Neurodegenerative-Diseases; Williams-Syndrome-pathology
MAJOR MeSH HEADINGS: *Actins-metabolism; *Microfilament-Proteins-physiology
CHECKTAGS: Animal; Human; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-ACADEMIC
CONTRACT OR GRANT NUMBERS: GM35126GMNIGMS; GM54004GMNIGMS
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 0
NAME OF SUBSTANCE: actin-depolymerizing-proteins; cofilin; Actins; Microfilament-Proteins
MEDLINE ACCESSION NUMBER: 20078085
UPDATE CODE: 200003
Record 36 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Configural and local processing of faces in children with Williams syndrome.
AUTHOR(S): Deruelle-C; Mancini-J; Livet-MO; Casse-Perrot-C; de-Schonen-S
ADDRESS OF AUTHOR: Center of Research in Cognitive Neuroscience, CNRS, Marseille, France. chris@lnf.cnrs-mrs.fr
SOURCE (BIBLIOGRAPHIC CITATION): Brain-Cogn. 1999 Dec; 41(3): 276-98
INTERNATIONAL STANDARD SERIAL NUMBER: 0278-2626
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Three experiments investigated face processing in children with Williams syndrome (WS). In Experiment 1, the ability to discriminate different aspects of faces was compared between WS subjects and a group of children individually matched for chronological age (CA-matches) and another group matched for mental age (MA-matches). In Experiments 2 and 3, the ability to process the local and configural aspects of geometrical patterns and faces was assessed within the same groups of subjects. The results indicated that the WSs' overall performance on face recognition was below that of the CA-matches, but similar to that of the MA-matches. This study revealed in addition that the CA- and MA-matches showed a bias toward a configural mode of face and geometrical shape processing, whereas children with WS did not show any bias. These findings suggest that face processing undergoes an abnormal developmental course in WS. Copyright 1999 Academic Press.
MINOR MESH HEADINGS: Adolescence-; Adult-; Affect-physiology; Analysis-of-Variance; Child-; Fixation,-Ocular-physiology; Intelligence-; Matched-Pair-Analysis; Williams-Syndrome-psychology
MAJOR MeSH HEADINGS: *Face-; *Facial-Expression; *Mental-Processes-physiology; *Pattern-Recognition,-Visual-physiology; *Williams-Syndrome-physiopathology
CHECKTAGS: Comparative-Study; Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20054080
UPDATE CODE: 200003
Record 37 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome.
AUTHOR(S): Tassabehji-M; Carette-M; Wilmot-C; Donnai-D; Read-AP; Metcalfe-K
ADDRESS OF AUTHOR: University Department of Medical Genetics, St Mary's Hospital, Manchester, UK. M.Tassabehji@man.ac.uk
SOURCE (BIBLIOGRAPHIC CITATION): Eur-J-Hum-Genet. 1999 Oct-Nov; 7(7): 737-47
INTERNATIONAL STANDARD SERIAL NUMBER: 1018-4813
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Williams-Beuren syndrome (WS) is a developmental disorder caused by a hemizygous microdeletion of approximately 1.4MB at chromosomal location 7q11.23. The transcription map of the WS critical region is not yet complete. We have isolated and characterised a 3.4 kb gene, GTF3, which occupies about 140 kb of the deleted region. Northern blot analysis showed that the gene is expressed in skeletal muscle and heart, and RT-PCR analysis showed expression in a range of adult tissues with stronger expression in foetal tissues. Part of the conceptual GTF3 protein sequence is almost identical to a recently reported slow muscle-fibre enhancer binding protein MusTRD1, and shows significant homology to the 90 amino-acid putative helix-loop-helix repeat (HLH) domains of the transcription factor TFII-I (encoded for by the gene GTF2I). These genes may be members of a new family of transcription factors containing this HLH-like repeated motif. Both GTF3 and GTF2I map within the WS deleted region, with GTF2I being positioned distal to GTF3. GTF3 is deleted in patients with classic WS, but not in patients we have studied with partial deletions of the WS critical region who have only supravalvular aortic stenosis. A feature of WS is abnormal muscle fatiguability, and we suggest that haploinsufficiency of the GTF3 gene may be the cause of this.
MINOR MESH HEADINGS: Amino-Acid-Sequence; Base-Sequence; Blotting,-Northern; DNA-Binding-Proteins-genetics; DNA,-Complementary-genetics; Gene-Expression-Profiling; Gene-Library; Helix-Loop-Helix-Motifs; In-Situ-Hybridization,-Fluorescence; Molecular-Sequence-Data; Reverse-Transcriptase-Polymerase-Chain-Reaction; Sequence-Homology,-Amino-Acid; Transcription-Factors-metabolism; Williams-Syndrome-metabolism
MAJOR MeSH HEADINGS: *Gene-Deletion; *Gene-Expression; *Muscle,-Skeletal-metabolism; *Transcription-Factors-genetics; *Williams-Syndrome-genetics
CHECKTAGS: Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 0; 0
NAME OF SUBSTANCE: DNA-Binding-Proteins; DNA,-Complementary; GTF3-protein; Transcription-Factors; TFII-I
MEDLINE ACCESSION NUMBER: 20037629
UPDATE CODE: 200003
SECONDARY SOURCE IDENTIFIER: GENBANK/AF151354
Record 38 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Second-order belief attribution in Williams syndrome: intact or impaired?
AUTHOR(S): Sullivan-K; Tager-Flusberg-H
ADDRESS OF AUTHOR: Eunice Kennedy Shriver Center, Center for Research on Developmental Disorders, Waltham, MA 02452, USA. ksullivan@shriver.org
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Ment-Retard. 1999 Nov; 104(6): 523-32
INTERNATIONAL STANDARD SERIAL NUMBER: 0895-8017
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Second-order mental state attribution in a group of children with Williams syndrome was investigated. The children were compared to age, IQ, and language-matched groups of children with Prader-Willi syndrome or nonspecific mental retardation. Participants were given two trials of a second-order reasoning task. No significant differences between the Williams syndrome and Prader-Willi or mentally retarded groups on any of the test questions were found. Results contrast with the view that individuals with Williams syndrome have an intact theory of mind and suggest that in their attributions of second-order mental states, children with Williams syndrome perform no better than do other groups of children with mental retardation.
MINOR MESH HEADINGS: Adolescence-; Age-Factors; Child-; Child,-Preschool; Concept-Formation; Deception-; Intelligence-; Interpersonal-Relations; Language-Development-Disorders-diagnosis; Language-Development-Disorders-psychology; Mental-Retardation-diagnosis; Mental-Retardation-psychology; Prader-Willi-Syndrome-diagnosis; Prader-Willi-Syndrome-psychology; Williams-Syndrome-diagnosis
MAJOR MeSH HEADINGS: *Internal-External-Control; *Problem-Solving; *Williams-Syndrome-psychology
CHECKTAGS: Comparative-Study; Female; Human; Male; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: RO1HD33470HDNICHD
MEDLINE ACCESSION NUMBER: 20055045
UPDATE CODE: 200003
Record 39 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Surgical treatment of aortic arch hypoplasia in infants and children with biventricular hearts.
AUTHOR(S): Poirier-NC; Van-Arsdell-GS; Brindle-M; Thyagarajan-GK; Coles-JG; Black-MD; Freedom-RM; Williams-WG
ADDRESS OF AUTHOR: Division of Cardiovascular Surgery, The Hospital For Sick Children, Toronto, Ontario, Canada.
SOURCE (BIBLIOGRAPHIC CITATION): Ann-Thorac-Surg. 1999 Dec; 68(6): 2293-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0003-4975
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: BACKGROUND: Results of aortic arch reconstruction in the setting of biventricular physiology are well documented in the adult population, however, in children, surgical outcome of this subgroup of patients is less clear. METHODS: We studied the clinical outcomes of 37 children aged 8 days to 15 years (median 26 months), who underwent aortic arch reconstruction for arch hypoplasia from 1982 to 1997. The children were divided into three groups: Group 1 (20 patients) had isolated aortic arch lesions, Group 2 (13 patients) had associated intra-cardiac pathology yet conserving a biventricular physiology, Group 3 (4 patients) had Williams Syndrome. Previous interventions for coarctation had been performed in 30 patients (81%). Arch repair consisted of a patch aortoplasty in the majority of patients (35 of 37 children). RESULTS: Operative mortality occurred in 5 children, 4 in Group 2 (31%), 1 in Group 3 (25%) and none in Group 1. Permanent neurological complications occurred in 2 children (5 %). During the follow-up, which ranged from 1 month to 8 years, balloon angioplasty for arch obstruction was required in 1 child. There was one late death, associated with a subsequent intra-cardiac repair. CONCLUSIONS: Aortic arch surgery in children with isolated arch hypoplasia, is associated with excellent early and late survival in addition to a low reintervention rate. Alternative perfusion and operative strategies must be implemented in infants with associated intra-cardiac anomalies to improve results.
MINOR MESH HEADINGS: Adolescence-; Angioplasty-; Aortic-Coarctation-surgery; Cardiovascular-Surgical-Procedures-mortality; Child-; Child,-Preschool; Heart-Defects,-Congenital-complications; Heart-Defects,-Congenital-surgery; Infant-; Infant,-Newborn; Reoperation-; Survival-Rate
MAJOR MeSH HEADINGS: *Aorta,-Thoracic-abnormalities; *Aorta,-Thoracic-surgery
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20083309
UPDATE CODE: 200003
SUBSET: AIM
Record 40 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Cognitive modularity and genetic disorders [see comments]
COMMENTS: Comment in: Science 1999 Dec 17;286(5448):2283-4
AUTHOR(S): Paterson-SJ; Brown-JH; Gsodl-MK; Johnson-MH; Karmiloff-Smith-A
ADDRESS OF AUTHOR: Neurocognitive Development Unit, Institute of Child Health, University College, London WC1N 1EH, UK.
SOURCE (BIBLIOGRAPHIC CITATION): Science. 1999 Dec 17; 286(5448): 2355-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0036-8075
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: This study challenges the use of adult neuropsychological models for explaining developmental disorders of genetic origin. When uneven cognitive profiles are found in childhood or adulthood, it is assumed that such phenotypic outcomes characterize infant starting states, and it has been claimed that modules subserving these abilities start out either intact or impaired. Findings from two experiments with infants with Williams syndrome (a phenotype selected to bolster innate modularity claims) indicate a within-syndrome double dissociation: For numerosity judgments, they do well in infancy but poorly in adulthood, whereas for language, they perform poorly in infancy but well in adulthood. The theoretical and clinical implications of these results could lead to a shift in focus for studies of genetic disorders.
MINOR MESH HEADINGS: Adult-; Case-Control-Studies; Child,-Preschool; Down-Syndrome-genetics; Down-Syndrome-physiopathology; Down-Syndrome-psychology; Infant-; Matched-Pair-Analysis; Mathematics-; Neuropsychological-Tests; Phenotype-; Vocabulary-; Williams-Syndrome-genetics; Williams-Syndrome-psychology
MAJOR MeSH HEADINGS: *Brain-physiopathology; *Cognition-; *Language-Development; *Williams-Syndrome-physiopathology
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20070295
UPDATE CODE: 200003
Record 41 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Perspectives: cognition. An innate basis for language? [comment]
COMMENTS: Comment on: Science 1999 Dec 17;286(5448):2355-8
AUTHOR(S): Bishop-DV
ADDRESS OF AUTHOR: Department of Experimental Psychology, University of Oxford, Oxford OX1 3UD, UK. dorothy.bishop@psy.ox.ac.uk
SOURCE (BIBLIOGRAPHIC CITATION): Science. 1999 Dec 17; 286(5448): 2283-4
INTERNATIONAL STANDARD SERIAL NUMBER: 0036-8075
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Adolescence-; Adult-; Brain-growth-and-development; Brain-physiopathology; Child-; Child,-Preschool; Mathematics-; Memory,-Short-Term; Middle-Age; Vocabulary-; Williams-Syndrome-genetics; Williams-Syndrome-psychology
MAJOR MeSH HEADINGS: *Brain-physiology; *Cognition-; *Language-Development; *Williams-Syndrome-physiopathology
CHECKTAGS: Human
PUBLICATION TYPE: COMMENT; JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20093980
UPDATE CODE: 200003
Record 42 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: A case of Williams syndrome with a large, visible cytogenetic deletion [letter]
AUTHOR(S): Wu-YQ; Nickerson-E; Shaffer-LG; Keppler-Noreuil-K; Muilenburg-A
SOURCE (BIBLIOGRAPHIC CITATION): J-Med-Genet. 1999 Dec; 36(12): 928-32
INTERNATIONAL STANDARD SERIAL NUMBER: 0022-2593
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
MINOR MESH HEADINGS: Child-; Child,-Preschool; Chromosome-Mapping; Fluorescent-Antibody-Technique,-Indirect; Infant-; Karyotyping-
MAJOR MeSH HEADINGS: *Chromosome-Deletion; *Chromosomes,-Human,-Pair-7; *Williams-Syndrome-genetics
CHECKTAGS: Case-Report; Female; Human; Male; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: LETTER
CONTRACT OR GRANT NUMBERS: RO3HD35112HDNICHD
MEDLINE ACCESSION NUMBER: 20091975
UPDATE CODE: 200003
Record 43 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Deficient coacervation of two forms of human tropoelastin associated with supravalvular aortic stenosis.
AUTHOR(S): Wu-WJ; Weiss-AS
ADDRESS OF AUTHOR: Department of Biochemistry, University of Sydney, NSW, Australia.
SOURCE (BIBLIOGRAPHIC CITATION): Eur-J-Biochem. 1999 Nov; 266(1): 308-14
INTERNATIONAL STANDARD SERIAL NUMBER: 0014-2956
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: Human tropoelastin associates by coacervation and is subsequently cross-linked to make elastin. In Williams syndrome, defective elastin deposition is associated with hemizygous deletion of the tropoelastin gene in supravalvular aortic stenosis (SVAS). Remarkably, point-mutation forms of SVAS correspond to incomplete forms of tropoelastin which include in-frame termination by nonsense mutations, yet the resulting phenotype of these disorders is not explained because expression variably occurs from both normal and mutant alleles. Proteins corresponding to two truncated tropoelastin mutants were expressed and purified to homogeneity. Coacervation of these proteins occurred as expected with increasing temperature, but substantially contrasted with that of the performance of a normal tropoelastin. Significantly, association by coacervation of the truncated SVAS tropoelastin molecules was negligible at 37 degrees C, which contrasted with the substantial coacervation seen for normal tropoelastin. Furthermore their midpoints of coacervation increased and correlated with the extent of deletion, in accord with the loss of hydrophobic regions required for tropoelastin association. Their secondary structures are similar, as evidenced by CD studies. We propose a model for point-mutation SVAS in which aberrant tropoelastin molecules are incompetent and are mainly excluded from participation in coacervation and consequently in elastogenesis. These forms of SVAS may consequently be considered functionally similar to a hemizygous deletion, and mark point-mutation SVAS as a disorder of defective coacervation.
MINOR MESH HEADINGS: Amino-Acid-Substitution; Aortic-Valve-Stenosis-genetics; Blood-Vessels-chemistry; Cations,-Divalent-pharmacology; Circular-Dichroism; Dermatan-Sulfate-pharmacology; Elastic-Tissue-chemistry; Elastic-Tissue-ultrastructure; Elasticity-; Heparin-pharmacology; Muscle,-Smooth,-Vascular-ultrastructure; Mutagenesis,-Site-Directed; Mutation,-Missense; Protein-Binding; Protein-Isoforms-isolation-and-purification; Protein-Isoforms-metabolism; Recombinant-Fusion-Proteins-chemistry; Recombinant-Fusion-Proteins-metabolism; Temperature-; Tropoelastin-genetics; Tropoelastin-isolation-and-purification; Tropoelastin-metabolism
MAJOR MeSH HEADINGS: *Aortic-Valve-Stenosis-metabolism; *Protein-Isoforms-chemistry; *Tropoelastin-chemistry
CHECKTAGS: Comparative-Study; Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 0; 24967-94-0; 9005-49-6
NAME OF SUBSTANCE: Cations,-Divalent; Protein-Isoforms; Recombinant-Fusion-Proteins; Tropoelastin; Dermatan-Sulfate; Heparin
MEDLINE ACCESSION NUMBER: 20009419
UPDATE CODE: 200003
Record 44 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: [Fluorescence in situ hybridization in the study of chromosomal abnormalities]
ORIGINAL TITLE: Fluorescentie-in-situhybridisatie bij het onderzoek naar chromosomale afwijkingen.
AUTHOR(S): Hoovers-JM; Mellink-CH; Leschot-NJ
ADDRESS OF AUTHOR: Academisch Medisch Centrum, afd. Klinische Genetica, Amsterdam.
SOURCE (BIBLIOGRAPHIC CITATION): Ned-Tijdschr-Geneeskd. 1999 Nov 6; 143(45): 2265-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-2162
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: DUTCH; NON-ENGLISH
COUNTRY OF PUBLICATION: NETHERLANDS
ABSTRACT: Classical cytogenetics has a low resolving power and allows analysis of dividing cells only. In fluorescence in situ hybridization (FISH), a DNA fragment is stained with a fluorescent marker, after which this fragment is brought into contact with a patient's DNA. The stained fragment can bind to a corresponding fragment, revealing its presence or absence. Using FISH, every desired DNA sequence (from a whole chromosome to one gene) can be stained. In this way it is also possible to diagnose microdeletion syndromes, such as the Williams syndrome, the DiGeorge syndrome and submicroscopic chromosome anomalies that play a part in mental handicaps. FISH also allows analysis of non-dividing cells. In this way it is possible for instance rapidly to examine uncultured amniotic fluid cells for the commoner trisomies or to find foetal erythrocytes in a pregnant woman's blood. It is also possible to demonstrate tumour-specific breaking points. By application of FISH to microarrays it is possible to study a large number of genes simultaneously for the presence of a particular number of DNA sequences linked to a clinical abnormality.
MINOR MESH HEADINGS: Chromosome-Deletion; Cytogenetic-Analysis; DNA-Probes; English-Abstract; Microsatellite-Repeats; Syndrome-; Translocation-Genetics; Trisomy-diagnosis; Trisomy-genetics
MAJOR MeSH HEADINGS: *Chromosome-Abnormalities-diagnosis; *Chromosome-Abnormalities-genetics; *DNA-Mutational-Analysis; *In-Situ-Hybridization,-Fluorescence-utilization
CHECKTAGS: English-Abstract; Human
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
CAS REGISTRY NUMBER OR EC NUMBER: 0
NAME OF SUBSTANCE: DNA-Probes
MEDLINE ACCESSION NUMBER: 20045379
UPDATE CODE: 200003
Record 45 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23.
AUTHOR(S): Franke-Y; Peoples-RJ; Francke-U
ADDRESS OF AUTHOR: Department of Genetics, Stanford University School of Medicine, Stanford CA, USA. francke@cmgm.stanford.edu
SOURCE (BIBLIOGRAPHIC CITATION): Cytogenet-Cell-Genet. 1999; 86(3-4): 296-304
INTERNATIONAL STANDARD SERIAL NUMBER: 0301-0171
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: SWITZERLAND
ABSTRACT: Williams-Beuren syndrome (WBS) is a microdeletion syndrome caused by haploinsufficiency of genes at 7q11.23. Here we describe the identification and characterization of a novel gene named GTF2IRD1, for GTF2I-repeat domain 1, within the WBS deletion region. Northern blot analysis revealed ubiquitous expression during development with two transcripts of 3.6 kb and 5.0 kb generated by alternative splicing. GTF2IRD1 encodes a protein of 944 amino acids that contains a region of high similarity to a unique motif with helix-loop-helix forming potential occurring within the transcription factor GTF2I. Analogous to TFII-I, the product of GTF2IRD1 may have the ability to interact with other HLH-proteins and function as a transcription factor or as a negative transcriptional regulator. A recent report of the identification of a muscle-specific transcription factor, MusTRD1, supports this hypothesis (O'Mahoney et al., 1998). The open reading frame described for MusTRD1 is identical to that of GTF2IRD1; however, the putative MusTRD1-protein is 486 amino acids shorter than the predicted protein encoded by GTF2IRD1. A heterozygous deletion of GTF2IRD1 may contribute to the complex WBS phenotype.
MINOR MESH HEADINGS: Amino-Acid-Sequence; Base-Sequence; Chromosome-Mapping; Consensus-Sequence; Exons-; Expressed-Sequence-Tags; Genetic-Markers; Introns-; Molecular-Sequence-Data; Organ-Specificity; Repetitive-Sequences,-Amino-Acid; Reverse-Transcriptase-Polymerase-Chain-Reaction; Sequence-Alignment; Sequence-Homology,-Amino-Acid; Transcription-Factors-chemistry
MAJOR MeSH HEADINGS: *Brain-metabolism; *Chromosome-Deletion; *Chromosomes,-Human,-Pair-7; *Gene-Deletion; *Transcription-Factors-genetics; *Williams-Syndrome-genetics
CHECKTAGS: Human; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: HG00298HGNHGRI; HD33505HDNICHD; K08HD01181HDNICHD
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0
NAME OF SUBSTANCE: Genetic-Markers; GTF2IRD1-protein; Transcription-Factors
MEDLINE ACCESSION NUMBER: 20044629
UPDATE CODE: 200003
Record 46 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: TBL2, a novel transducin family member in the WBS deletion: characterization of the complete sequence, genomic structure, transcriptional variants and the mouse ortholog.
AUTHOR(S): Perez-Jurado-LA; Wang-YK; Francke-U; Cruces-J
ADDRESS OF AUTHOR: Servicio de Genetica, Hospital Universitario La Paz, Madrid, Spain. lpjurado@mvax.fmed.uam.es
SOURCE (BIBLIOGRAPHIC CITATION): Cytogenet-Cell-Genet. 1999; 86(3-4): 277-84
INTERNATIONAL STANDARD SERIAL NUMBER: 0301-0171
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: SWITZERLAND
ABSTRACT: Williams-Beuren syndrome (WBS) is a developmental disorder with multi-system manifestations caused by haploinsufficiency for contiguous genes deleted in chromosome region 7q11.23. The size of the deletion is similar in most patients due to a genomic duplication that predisposes to unequal meiotic crossover events. While hemizygosity at the elastin locus is responsible for the cardiovascular features, the contribution of other genes to the WBS phenotype remains to be demonstrated. We have identified a novel gene, TBL2, in the common WBS deletion. TBL2 is expressed as a 2. 4-kb transcript predominantly in testis, skeletal muscle, heart and some endocrine tissues, with a larger approximately 5-kb transcript detected ubiquitously at lower levels. TBL2 encodes a protein with four putative WD40-repeats. An alternatively spliced transcript in TBL2 introduces a novel second exon with an in frame stop codon. This mRNA encodes a 75 amino acid protein with 43 amino acids identical to TBL2 at the N-terminus and no known functional domain. The mouse homolog, Tbl2, shows 84% sequence identity at the nucleotide level and 92% similarity at the amino acid level. Comparison of the mouse and human sequences identifies a conserved region that extends upstream of the previously published sequence with an initiation codon common to both species that adds 21 amino acids at the N-terminus. The Tbl2 gene has been mapped to mouse chromosome 5 in a region of conserved synteny with human 7q11.23. Since haploinsufficiency has been shown for other WD-repeat containing proteins, hemizygosity of TBL2 may contribute to some of the aspects of the complex WBS phenotype.
MINOR MESH HEADINGS: Amino-Acid-Sequence; Base-Sequence; Caenorhabditis-elegans-genetics; Genetic-Markers; GTP-Binding-Proteins-chemistry; Molecular-Sequence-Data; Muscle,-Skeletal-metabolism; Myocardium-metabolism; Open-Reading-Frames; Sequence-Alignment; Sequence-Homology,-Amino-Acid; Testis-metabolism; Transducin-genetics; Variation-Genetics
MAJOR MeSH HEADINGS: *Chromosome-Mapping; *Chromosomes,-Human,-Pair-7; *Gene-Deletion; *GTP-Binding-Proteins-genetics; *Mice-genetics; *Transcription,-Genetic; *Williams-Syndrome-genetics
CHECKTAGS: Animal; Female; Human; Male; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: RO1HD33504HDNICHD
CAS REGISTRY NUMBER OR EC NUMBER: EC 3.6.1.-; EC 3.6.1.-; 0; 0
NAME OF SUBSTANCE: GTP-Binding-Proteins; Transducin; Genetic-Markers; TBL2-protein
MEDLINE ACCESSION NUMBER: 20044626
UPDATE CODE: 200003
Record 47 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Early development (5 to 48 months) in Williams syndrome. A study of 14 children [see comments]
COMMENTS: Comment in: Genet Couns 1999 ;10(2):195-6
AUTHOR(S): Plissart-L; Fryns-JP
ADDRESS OF AUTHOR: Centre for Human Genetics, University Hospital of Leuven, Belgium.
SOURCE (BIBLIOGRAPHIC CITATION): Genet-Couns. 1999; 10(2): 151-6
INTERNATIONAL STANDARD SERIAL NUMBER: 1015-8146
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: SWITZERLAND
ABSTRACT: At what age do children with Williams syndrome (WS) achieve major developmental milestones? Is their early development harmonious or are some of the typical discrepancies described in older children already noticeable? To address these questions we analysed information gathered over a five year period on 14 children with WS. Each child was evaluated at least twice between the ages of 5 and 48 months, using the Bayley Scales of Infant Development and during more informal observation sessions. Parents and professionals were also interviewed. This analysis provided us with an outline for "developmental norms" for children with WS and allowed us to conclude that, even before the age of 4 years, children with WS display a typical profile in their abilities. Expressive language skills are less delayed in contrast to the important delay in language comprehension and fine motor skills.
MINOR MESH HEADINGS: Age-Factors; Child,-Preschool; Follow-Up-Studies; Infant-; Language-Development-Disorders-diagnosis; Language-Tests; Williams-Syndrome-diagnosis
MAJOR MeSH HEADINGS: *Developmental-Disabilities-diagnosis; *Motor-Skills-Disorders-diagnosis; *Williams-Syndrome-genetics
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99350908
UPDATE CODE: 200003
Record 48 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Early development of children with Williams syndrome.
AUTHOR(S): Sarimski-K
ADDRESS OF AUTHOR: Kinderzentrum Munchen, Germany.
SOURCE (BIBLIOGRAPHIC CITATION): Genet-Couns. 1999; 10(2): 141-50
INTERNATIONAL STANDARD SERIAL NUMBER: 1015-8146
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: SWITZERLAND
ABSTRACT: Developmental observations in ten young children with Williams syndrome (1-6 years old) are presented from developmental tests, symbolic play sessions and play sessions with a special educator following the non-directive Montessori approach. There is a considerable individual variability in performance. Overall, the children are engaged in goal-directed activities for more than 35% of the time during play sessions. Overactivity and distractability seem to be more age-dependent and situation-specific than thought before. Developmental interventions may include play sessions following the Montessori approach.
MINOR MESH HEADINGS: Age-Factors; Child-; Child,-Preschool; Developmental-Disabilities-diagnosis; Infant-; Play-and-Playthings; Severity-of-Illness-Index; Video-Recording; Williams-Syndrome-diagnosis
MAJOR MeSH HEADINGS: *Developmental-Disabilities-genetics; *Williams-Syndrome-genetics
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99350907
UPDATE CODE: 200003
Record 49 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Molecular cloning and characterization of human Frizzled-4 on chromosome 11q14-q21.
AUTHOR(S): Kirikoshi-H; Sagara-N; Koike-J; Tanaka-K; Sekihara-H; Hirai-M; Katoh-M
ADDRESS OF AUTHOR: Genetics Division, National Cancer Center Research Institute, Tsukiji 5-chome, Tokyo, Chuo-ku, 104-0045, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Biochem-Biophys-Res-Commun. 1999 Nov 2; 264(3): 955-61
INTERNATIONAL STANDARD SERIAL NUMBER: 0006-291X
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: The WNT receptors, encoded by the Frizzled genes, are implicated in a variety of cellular processes such as cell fate determination, cell polarity control, and malignant transformation. Human Frizzled-4 (FZD4) cDNAs have been cloned and characterized. FZD4 spans a total of 7392 nucleotides and encodes a 537-amino-acid protein with the N-terminal cysteine-rich domain, seven transmembrane domains, and the C-terminal S/T-X-V motif. The FZD4 mRNA of 7.7 kb in size were detected almost ubiquitously in normal human tissues and larger amounts in fetal kidney, adult heart, skeletal muscle, and ovary. Among cancer cell lines, the FZD4 mRNA level was higher in HeLa S3. The FZD4 gene has been mapped to human chromosome 11q14-q21. FZD4 is homologous to FZD9 and FZD10, and overall amino acid identity is as follows: FZD4 vs FZD9, 51.6%; FZD4 vs FZD10, 51.2%; FZD9 vs FZD10, 65.7%. FZD4 consists of two exons, while FZD9 and FZD10 consist of a single exon. FZD4 might belong to rather the independent FZD subfamily than the FZD9-FZD10 subfamily. Copyright 1999 Academic Press.
MINOR MESH HEADINGS: Adult-; Amino-Acid-Sequence; Base-Sequence; Chromosome-Mapping; Cloning,-Molecular; Molecular-Sequence-Data; Proteins-genetics; Sequence-Alignment; Williams-Syndrome-genetics
MAJOR MeSH HEADINGS: *Chromosomes,-Human,-Pair-11; *Receptors,-Cell-Surface-genetics
CHECKTAGS: Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0
NAME OF SUBSTANCE: frizzled-protein,-vertebrate; Proteins; Receptors,-Cell-Surface
MEDLINE ACCESSION NUMBER: 20012777
UPDATE CODE: 200002
SECONDARY SOURCE IDENTIFIER: GENBANK/AB032417
Record 50 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Skin elastic fibers in Williams syndrome.
AUTHOR(S): Dridi-SM; Ghomrasseni-S; Bonnet-D; Aggoun-Y; Vabres-P; Bodemer-C; Lyonnet-S; de-Prost-Y; Fraitag-S; Pellat-B; Sidi-D; Godeau-G
ADDRESS OF AUTHOR: Laboratory of Physiopathology of non mineralized tissues, Faculte de Chirurgie Dentaire, Montrouge, France.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1999 Nov 19; 87(2): 134-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: The elastin gene is consistently deleted in Williams syndrome and as this protein represents the major component of the elastic fibers of the dermis, we sought to investigate skin elastic fibers in Williams syndrome as a key to unraveling extracellular matrix disorganization in this condition. Both morphometric parameters analyzed by using automated image analysis and immunofluorescence labeling with monoclonal antibodies against elastin and fibrillin 1 showed a disorganized pre-elastic (oxytalan and elaunin) and mature elastic fibers in the dermis of 10 Williams syndrome patients compared with five healthy children and one patient with isolated supravalvular aortic stenosis. Skin biopsies in Williams syndrome patients provide a simple mean to elucidate extracellular matrix anomalies. Hopefully, this method could give clues to the understanding of the elastic network anomalies in this condition and even to the consequences of these latter on elasticity and resilience of other tissues such as the arterial tree. Copyright 1999 Wiley-Liss, Inc.
MINOR MESH HEADINGS: Adolescence-; Aortic-Valve-Stenosis-genetics; Aortic-Valve-Stenosis-metabolism; Aortic-Valve-Stenosis-pathology; Child-; Child,-Preschool; Chromosomes,-Human,-Pair-7-genetics; Elastic-Tissue-pathology; Elastin-analysis; Elastin-deficiency; Elastin-genetics; Extracellular-Matrix-chemistry; Extracellular-Matrix-pathology; Fluorescent-Antibody-Technique,-Indirect; Microfilament-Proteins-analysis; Skin-Abnormalities-genetics; Williams-Syndrome-genetics
MAJOR MeSH HEADINGS: *Elastic-Tissue-abnormalities; *Elastic-Tissue-chemistry; *Skin-Abnormalities-metabolism; *Skin-Abnormalities-pathology; *Williams-Syndrome-metabolism; *Williams-Syndrome-pathology
CHECKTAGS: Human
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 9007-58-3
NAME OF SUBSTANCE: fibrillin; Microfilament-Proteins; Elastin
MEDLINE ACCESSION NUMBER: 20004502
UPDATE CODE: 200002