The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis
about
Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genesElastin is an essential determinant of arterial morphogenesisFunctional domains on elastin and microfibril-associated glycoprotein involved in elastic fibre assemblyImpaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosisIntroduction: Williams syndromeThe gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletionMolecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growthUsing transcription modules to identify expression clusters perturbed in Williams-Beuren syndromeBridging the gene-behavior divide through neuroimaging deletion syndromes: Velocardiofacial (22q11.2 Deletion) and Williams (7q11.23 Deletion) syndromes.VI. Genome structure and cognitive map of Williams syndrome.Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients.Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanismPrevalence of scoliosis in Williams-Beuren syndrome patients treated at a regional reference center.Impaired elastogenesis in Hurler disease: dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly.Structural and cellular characterization of electrospun recombinant human tropoelastin biomaterials.Reduced fear and aggression and altered serotonin metabolism in Gtf2ird1-targeted mice.Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development.Elastic and collagenous networks in vascular diseasesMechanical property characterization of electrospun recombinant human tropoelastin for vascular graft biomaterials.Global analysis of gene expression in the developing brain of Gtf2ird1 knockout mice.Genomewide-linkage and haplotype-association studies map intracranial aneurysm to chromosome 7q11The genetic basis of aortic aneurysmSupravalvular aortic stenosis associated with a deletion disrupting the elastin gene.Congenital supravalvar aortic stenosis: a simple lesion?Williams syndrome: from genotype through to the cognitive phenotype.Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype.Deletions of chromosomal regulatory boundaries are associated with congenital disease.Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients.Vascular wall extracellular matrix proteins and vascular diseasesElastogenesis at the onset of human cardiac valve development.Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome.Fibrillin-1 genetic deficiency leads to pathological ageing of arteries in mice.Oxidative modifications of the C-terminal domain of tropoelastin prevent cell binding.Microstructural and compositional features of the fibrous and hyaline cartilage on the medial tibial plateau imply a unique role for the hopping locomotion of kangarooWilliams-Beuren syndrome: a challenge for genotype-phenotype correlations.Transforming growth factor-beta reverses a posttranscriptional defect in elastin synthesis in a cutis laxa skin fibroblast strainGenetic modifiers of cardiovascular phenotype caused by elastin haploinsufficiency act by extrinsic noncomplementation.
P2860
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P2860
The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis
description
1993 nî lūn-bûn
@nan
1993 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
The elastin gene is disrupted ...... supravalvular aortic stenosis
@ast
The elastin gene is disrupted ...... supravalvular aortic stenosis
@en
The elastin gene is disrupted ...... supravalvular aortic stenosis
@en-gb
The elastin gene is disrupted ...... supravalvular aortic stenosis
@nl
type
label
The elastin gene is disrupted ...... supravalvular aortic stenosis
@ast
The elastin gene is disrupted ...... supravalvular aortic stenosis
@en
The elastin gene is disrupted ...... supravalvular aortic stenosis
@en-gb
The elastin gene is disrupted ...... supravalvular aortic stenosis
@nl
prefLabel
The elastin gene is disrupted ...... supravalvular aortic stenosis
@ast
The elastin gene is disrupted ...... supravalvular aortic stenosis
@en
The elastin gene is disrupted ...... supravalvular aortic stenosis
@en-gb
The elastin gene is disrupted ...... supravalvular aortic stenosis
@nl
P2093
P921
P3181
P1433
P1476
The elastin gene is disrupted ...... supravalvular aortic stenosis
@en
P2093
D L Atkinson
M E Curran
M F Leppert
M T Keating
P304
P3181
P356
10.1016/0092-8674(93)90168-P
P407
P577
1993-04-09T00:00:00Z