Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms.
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The molecular genetics of Marfan syndrome and related disordersThe molecular genetics of Marfan syndrome and related microfibrillopathiesMulti-exon deletions of the FBN1 gene in Marfan syndromeCorneal stroma microfibrilsInteractions of fibrillin-1 with heparin/heparan sulfate, implications for microfibrillar assemblyADAMTSL-6 is a novel extracellular matrix protein that binds to fibrillin-1 and promotes fibrillin-1 fibril formationIn vivo studies of mutant fibrillin-1 microfibrilsA Marfan syndrome gene expression phenotype in cultured skin fibroblasts.Induction of macrophage chemotaxis by aortic extracts from patients with Marfan syndrome is related to elastin binding protein.Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes.Expression of a mutant human fibrillin allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype.Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome.Marfan syndrome in the third Millennium.A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection.Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic ampliconsA second locus for Marfan syndrome maps to chromosome 3p24.2-p25.Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.Homo- and heterotypic fibrillin-1 and -2 interactions constitute the basis for the assembly of microfibrils.Vascular smooth muscle cells in Marfan syndrome aneurysm: the broken bricks in the aortic wall.Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1.Mutations in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis. A potential disease-causing mechanism in Marfan syndrome.Ribozymes: structure, function, and potential therapy for dominant genetic disorders.Reply to "The question of heterogeneity in Marfan syndrome"Structural consequences of cysteine substitutions C1977Y and C1977R in calcium-binding epidermal growth factor-like domain 30 of human fibrillin-1.Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.Processing of the fibrillin-1 carboxyl-terminal domain.FBN1 polymorphisms in patients with the dilatative pathology of the ascending thoracic aorta.GENETIC FIBRILLINOPATHIES : NEW INSIGHTS IN MOLECULAR DIAGNOSIS AND CLINICAL MANAGEMENT
P2860
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P2860
Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms.
description
1994 nî lūn-bûn
@nan
1994 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Quantitative differences in bi ...... tinct pathogenetic mechanisms.
@ast
Quantitative differences in bi ...... tinct pathogenetic mechanisms.
@en
Quantitative differences in bi ...... tinct pathogenetic mechanisms.
@nl
type
label
Quantitative differences in bi ...... tinct pathogenetic mechanisms.
@ast
Quantitative differences in bi ...... tinct pathogenetic mechanisms.
@en
Quantitative differences in bi ...... tinct pathogenetic mechanisms.
@nl
prefLabel
Quantitative differences in bi ...... tinct pathogenetic mechanisms.
@ast
Quantitative differences in bi ...... tinct pathogenetic mechanisms.
@en
Quantitative differences in bi ...... tinct pathogenetic mechanisms.
@nl
P2093
P2860
P356
P1476
Quantitative differences in bi ...... tinct pathogenetic mechanisms.
@en
P2093
P2860
P304
P356
10.1172/JCI117298
P407
P577
1994-07-01T00:00:00Z