Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis.
about
Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)Neuraminidase-1, a subunit of the cell surface elastin receptor, desialylates and functionally inactivates adjacent receptors interacting with the mitogenic growth factors PDGF-BB and IGF-2Multi-species sequence comparison reveals dynamic evolution of the elastin gene that has involved purifying selection and lineage-specific insertions/deletionsGenetic Syndromes associated with Congenital Heart DiseaseOf mice and men: molecular genetics of congenital heart diseaseGenetics and Genomics of Congenital Heart Disease.Quantitative comparison of structure and dynamics of elastin following three isolation schemes by 13C solid state NMR and MALDI mass spectrometry.Quantitative observation of backbone disorder in native elastin.VI. Genome structure and cognitive map of Williams syndrome.Long-term miR-29b suppression reduces aneurysm formation in a Marfan mouse model.Williams-Beuren syndrome: an update and review for the primary physician.Discovery of Novel Small-Molecule Inhibitors of LIM Domain Kinase for Inhibiting HIV-1Structural and cellular characterization of electrospun recombinant human tropoelastin biomaterials.Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development.Mechanical 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 importance of elastin to aortic development in mice.Congenital supravalvar aortic stenosis: a simple lesion?Williams syndrome: from genotype through to the cognitive phenotype.A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23Vascular wall extracellular matrix proteins and vascular diseasesWilliams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes.Fibrillin-1 genetic deficiency leads to pathological ageing of arteries in mice.Oxidative modifications of the C-terminal domain of tropoelastin prevent cell binding.Mechanical factors direct mouse aortic remodelling during early maturation.Insufficient versican cleavage and Smad2 phosphorylation results in bicuspid aortic and pulmonary valvesGenetic approaches to disease and regenerationThe contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.Measuring left ventricular pressure in late embryonic and neonatal miceAlternative splicing and tissue-specific elastin misassembly act as biological modifiers of human elastin gene frameshift mutations associated with dominant cutis laxa.Elastin in large artery stiffness and hypertension.New Genetic Insights into Congenital Heart Disease.Abnormal deposition of collagen/elastic vascular fibres and prognostic significance in idiopathic interstitial pneumonias.Vascular Cells in Blood Vessel Wall Development and Disease.Extracellular matrix and the mechanics of large artery development.Engineered zinc-finger proteins can compensate genetic haploinsufficiency by transcriptional activation of the wild-type allele: application to Willams-Beuren syndrome and supravalvular aortic stenosisDevelopmental adaptation of the mouse cardiovascular system to elastin haploinsufficiencyA fiber-based constitutive model predicts changes in amount and organization of matrix proteins with development and disease in the mouse aorta.Characterization of an in vitro model of elastic fiber assembly.
P2860
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P2860
Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis.
description
1997 nî lūn-bûn
@nan
1997年の論文
@ja
1997年学术文章
@wuu
1997年学术文章
@zh
1997年学术文章
@zh-cn
1997年学术文章
@zh-hans
1997年学术文章
@zh-my
1997年学术文章
@zh-sg
1997年學術文章
@yue
1997年學術文章
@zh-hant
name
Elastin point mutations cause ...... supravalvular aortic stenosis.
@en
Elastin point mutations cause ...... supravalvular aortic stenosis.
@nl
type
label
Elastin point mutations cause ...... supravalvular aortic stenosis.
@en
Elastin point mutations cause ...... supravalvular aortic stenosis.
@nl
prefLabel
Elastin point mutations cause ...... supravalvular aortic stenosis.
@en
Elastin point mutations cause ...... supravalvular aortic stenosis.
@nl
P2093
P356
P1476
Elastin point mutations cause ...... supravalvular aortic stenosis.
@en
P2093
P304
P356
10.1093/HMG/6.7.1021
P577
1997-07-01T00:00:00Z