In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome
about
The ADAMTS (A Disintegrin and Metalloproteinase with Thrombospondin motifs) familyADAMTS10 protein interacts with fibrillin-1 and promotes its deposition in extracellular matrix of cultured fibroblasts.Heparin/heparan sulfate controls fibrillin-1, -2 and -3 self-interactions in microfibril assemblyHuman eye development is characterized by coordinated expression of fibrillin isoformsADAMTS10 mutations in autosomal recessive Weill-Marchesani syndromeMarfan's syndromeA disintegrin-like and metalloprotease (reprolysin-type) with thrombospondin type 1 motif (ADAMTS) superfamily: functions and mechanismsThe molecular genetics of Marfan syndrome and related disordersGenetic and functional linkage between ADAMTS superfamily proteins and fibrillin-1: a novel mechanism influencing microfibril assembly and functionExtracellular matrix in the trabecular meshwork: intraocular pressure regulation and dysregulation in glaucomaPerspectives on the revised Ghent criteria for the diagnosis of Marfan syndromeAbnormal Activation of BMP Signaling Causes Myopathy in Fbn2 Null MiceMicroenvironmental regulation by fibrillin-1Structure of the Fibrillin-1 N-Terminal Domains Suggests that Heparan Sulfate Regulates the Early Stages of Microfibril AssemblyADAMTS proteins as modulators of microfibril formation and functionClinical homogeneity and genetic heterogeneity in Weill-Marchesani syndromeRare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosisMapping of the disease locus and identification of ADAMTS10 as a candidate gene in a canine model of primary open angle glaucomaADAMTSL-6 is a novel extracellular matrix protein that binds to fibrillin-1 and promotes fibrillin-1 fibril formationA case of Weill-Marchesani syndrome with inversion of chromosome 15.Biogenesis and function of fibrillin assemblies.Extracellular matrix molecules: potential targets in pharmacotherapy.An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures.Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome.Mutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis.Microfibril-associated glycoprotein-1, an extracellular matrix regulator of bone remodeling.Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation.Fibrillin assemblies: extracellular determinants of tissue formation and fibrosisA novel missense mutation in ADAMTS10 in Norwegian Elkhound primary glaucomaFibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactionsHomozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.A bit of give and take: the relationship between the extracellular matrix and the developing chondrocyteA stochastic model of eye lens growth.LTBP-2 Has a Single High-Affinity Binding Site for FGF-2 and Blocks FGF-2-Induced Cell Proliferation.ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds fibrillin-1 microfibrils and accelerates microfibril biogenesisEffect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international studyRetinal vascular tortuosity in a patient with weill-marchesani syndrome.
P2860
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P2860
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome
description
2003 nî lūn-bûn
@nan
2003 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հունվարին հրատարակված գիտական հոդված
@hy
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
name
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome
@ast
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome
@en
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome
@nl
type
label
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome
@ast
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome
@en
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome
@nl
prefLabel
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome
@ast
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome
@en
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome
@nl
P2093
P3181
P356
P1476
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome
@en
P2093
G Collod-Beroud
J R Samples
M Le Merrer
N Dagoneau
R J Gorlin
P3181
P356
10.1136/JMG.40.1.34
P407
P577
2003-01-01T00:00:00Z