Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.
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The evolution of extracellular fibrillins and their functional domainsCurrent Controversies in Diagnosis and Management of Cleft Palate and Velopharyngeal Insufficiency.Genetic and functional linkage between ADAMTS superfamily proteins and fibrillin-1: a novel mechanism influencing microfibril assembly and functionEducational paper. Connective tissue disorders with vascular involvement: from gene to therapyCorneal stroma microfibrilsMatrix control of transforming growth factor-β functionMicroenvironmental regulation by fibrillin-1Structure of the Fibrillin-1 N-Terminal Domains Suggests that Heparan Sulfate Regulates the Early Stages of Microfibril AssemblyRecent advances in the genetics of systemic sclerosis: toward biological and clinical significanceNovel SMAD4 mutation causing Myhre syndromeRare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosisAnimal models of systemic sclerosis: their utility and limitations.In vivo studies of mutant fibrillin-1 microfibrilsAn ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures.C-terminal propeptide is required for fibrillin-1 secretion and blocks premature assembly through linkage to domains cbEGF41-43.Elevated transforming growth factor β1 in plasma of primary open-angle glaucoma patientsMutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.Differential effects of alendronate and losartan therapy on osteopenia and aortic aneurysm in mice with severe Marfan syndromeImpaired endothelium-mesenchymal stem cells cross-talk in systemic sclerosis: a link between vascular and fibrotic features.Multi-scale biomechanical remodeling in aging and genetic mutant murine mitral valve leaflets: insights into Marfan syndrome.Fibrillin assemblies: extracellular determinants of tissue formation and fibrosisFibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactionsA fibronectin-independent mechanism of collagen fibrillogenesis in adult liver remodelingMutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome.Vascular involvement in systemic sclerosis (scleroderma).Biological Significance of Local TGF-β Activation in Liver Diseases.Complex contributions of fibronectin to initiation and maturation of microfibrilsMatrix-dependent perturbation of TGFβ signaling and diseaseThe matrix protein Fibulin-5 is at the interface of tissue stiffness and inflammation in fibrosis.Molecular Mechanism Responsible for Fibronectin-controlled Alterations in Matrix Stiffness in Advanced Chronic Liver Fibrogenesis.The ocular phenotype of stiff-skin syndrome.Fibrillin-containing microfibrils are key signal relay stations for cell function.Genetic dissection of marfan syndrome and related connective tissue disorders: an update 2012.ADAMTS-10 and -6 differentially regulate cell-cell junctions and focal adhesions.Epithelial-mesenchymal status influences how cells deposit fibrillin microfibrils.Understanding fibrosis in systemic sclerosis: shifting paradigms, emerging opportunities.Systemic sclerosis sera affect fibrillin-1 deposition by dermal blood microvascular endothelial cells: therapeutic implications of cyclophosphamide.SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartanIntegrin-modulating therapy prevents fibrosis and autoimmunity in mouse models of scleroderma
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P2860
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.
description
2010 nî lūn-bûn
@nan
2010 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի մարտին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
name
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.
@ast
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.
@en
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.
@nl
type
label
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.
@ast
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.
@en
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.
@nl
prefLabel
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.
@ast
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.
@en
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.
@nl
P2093
P2860
P1476
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.
@en
P2093
A De Paepe
C R Chillakuri
D Riegert-Johnson
E E Gerber
P2860
P304
P356
10.1126/SCITRANSLMED.3000488
P407
P577
2010-03-01T00:00:00Z