Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders.
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The molecular genetics of Marfan syndrome and related disordersThe delicate balance between secreted protein folding and endoplasmic reticulum-associated degradation in human physiologyMAGP-2 has multiple binding regions on fibrillins and has covalent periodic association with fibrillin-containing microfibrilsA new mouse model for marfan syndrome presents phenotypic variability associated with the genetic background and overall levels of Fbn1 expression.C-terminal propeptide is required for fibrillin-1 secretion and blocks premature assembly through linkage to domains cbEGF41-43.Molecular consequences of the ACVR1(R206H) mutation of fibrodysplasia ossificans progressiva.Identification of Loci Modulating the Cardiovascular and Skeletal Phenotypes of Marfan Syndrome in MiceC596G mutation in FBN1 causes Marfan syndrome with exotropia in a Chinese family.Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international studyFibrillin-1 (FBN-1) a new marker of germ cell neoplasia in situ.A novel FBN1 missense mutation (p.C102Y) associated with ectopia lentis syndrome in a Chinese familyA mutant dec-1 transgene induces dominant female sterility in Drosophila melanogaster.Two novel mutations of fibrillin-1 gene correlate with different phenotypes of Marfan syndrome in Chinese families.Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulumClinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutationVascular 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.A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasiasFell-Muir Lecture: Fibrillin microfibrils: structural tensometers of elastic tissues?Matrix-directed differentiation of human adipose-derived mesenchymal stem cells to dermal-like fibroblasts that produce extracellular matrix.The tetralogy of Fallot-associated G274D mutation impairs folding of the second epidermal growth factor repeat in Jagged-1.A novel FBN1 mutation causes autosomal dominant Marfan syndrome.Modification of the structure and function of fibrillin-1 by homocysteine suggests a potential pathogenetic mechanism in homocystinuria.Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.ER-associated protein degradation is a common mechanism underpinning numerous monogenic diseases including Robinow syndrome.Effect of Simulated Microgravity Conditions on Differentiation of Adipose Derived Stem Cells towards Fibroblasts Using Connective Tissue Growth Factor.The search for genotype/phenotype correlation in Marfan syndrome: to be or not to be?
P2860
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P2860
Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
2003年论文
@zh
2003年论文
@zh-cn
name
Defective secretion of recombi ...... yndrome and related disorders.
@en
type
label
Defective secretion of recombi ...... yndrome and related disorders.
@en
prefLabel
Defective secretion of recombi ...... yndrome and related disorders.
@en
P356
P1476
Defective secretion of recombi ...... yndrome and related disorders.
@en
P2093
Pat Whiteman
Penny A Handford
P304
P356
10.1093/HMG/DDG081
P577
2003-04-01T00:00:00Z