Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome
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Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosisFibulin-4 regulates expression of the tropoelastin gene and consequent elastic-fibre formation by human fibroblastsNeuraminidase-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-2VE-statin/egfl7 regulates vascular elastogenesis by interacting with lysyl oxidasesHuman Induced Pluripotent Stem Cell-Derived Cardiomyocytes Afford New Opportunities in Inherited Cardiovascular Disease ModelingGreater impairments in cerebral artery compared with skeletal muscle feed artery endothelial function in a mouse model of increased large artery stiffnessAuditory function and hearing loss in children and adults with Williams syndrome: cochlear impairment in individuals with otherwise normal hearing.Induced chromosome deletion in a Williams-Beuren syndrome mouse model causes cardiovascular abnormalities.Polymorphisms in the human tropoelastin gene modify in vitro self-assembly and mechanical properties of elastin-like polypeptides.Peripheral pulmonary artery stenosis as a cause of pulmonary hypertension in adultsAltered vascular remodeling in fibulin-5-deficient mice reveals a role of fibulin-5 in smooth muscle cell proliferation and migration.Alpha 1 antitrypsin deficiency alleles are associated with joint dislocation and scoliosis in Williams syndrome.Fibulin-4 and fibulin-5 in elastogenesis and beyond: Insights from mouse and human studies.Retrovirally mediated overexpression of versican v3 reverses impaired elastogenesis and heightened proliferation exhibited by fibroblasts from Costello syndrome and Hurler disease patients.Vascular wall extracellular matrix proteins and vascular diseasesFibrillin-1 genetic deficiency leads to pathological ageing of arteries in mice.Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment?Neointima formed by arterial smooth muscle cells expressing versican variant V3 is resistant to lipid and macrophage accumulationRetinoblastoma protein modulates the inverse relationship between cellular proliferation and elastogenesisLoss of Gata5 in mice leads to bicuspid aortic valve.Pelvic organ prolapse in fibulin-5 knockout mice: pregnancy-induced changes in elastic fiber homeostasis in mouse vagina.Inhibition of microRNA-29 enhances elastin levels in cells haploinsufficient for elastin and in bioengineered vessels--brief report.Integrin β3 inhibition is a therapeutic strategy for supravalvular aortic stenosis.New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.The defining pathology of the new clinical and histopathologic entity ACTA2-related cerebrovascular disease.Engineered zinc-finger proteins can compensate genetic haploinsufficiency by transcriptional activation of the wild-type allele: application to Willams-Beuren syndrome and supravalvular aortic stenosisReduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?A cytokine axis regulates elastin formation and degradationModeling and rescue of the vascular phenotype of Williams-Beuren syndrome in patient induced pluripotent stem cells.Acquired Localized Cutis Laxa due to Increased Elastin TurnoverElastin haploinsufficiency induces alternative aging processes in the aorta.Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome.Martentoxin, a large-conductance Ca(2+)-activated K(+) channel inhibitor, attenuated TNF-α-induced nitric oxide release by human umbilical vein endothelial cells.Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survivalMatrix ageing and vascular impacts: focus on elastin fragmentation.Domains 16 and 17 of tropoelastin in elastic fibre formation.Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm.Defining differences among perivascular cells derived from human pluripotent stem cells.Modeling supravalvular aortic stenosis syndrome with human induced pluripotent stem cells.Restoring elastin with microRNA-29.
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Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome
description
article científic
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article scientifique
@fr
articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on 06 May 2002
@en
vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Connection between elastin hap ...... s and Williams-Beuren syndrome
@en
Connection between elastin hap ...... and Williams-Beuren syndrome.
@nl
type
label
Connection between elastin hap ...... s and Williams-Beuren syndrome
@en
Connection between elastin hap ...... and Williams-Beuren syndrome.
@nl
prefLabel
Connection between elastin hap ...... s and Williams-Beuren syndrome
@en
Connection between elastin hap ...... and Williams-Beuren syndrome.
@nl
P2093
P2860
P921
P356
P1476
Connection between elastin hap ...... s and Williams-Beuren syndrome
@en
P2093
Aleksander Hinek
Charles D Boyd
David Chitayat
Jodi Katahira
Leslie B Smoot
Thomas L Seidl
P2860
P356
10.1086/341035
P407
P577
2002-05-06T00:00:00Z