ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome
about
The ADAMTS (A Disintegrin and Metalloproteinase with Thrombospondin motifs) familyPopulation genomics of parallel adaptation in threespine stickleback using sequenced RAD tagsADAMTS10 protein interacts with fibrillin-1 and promotes its deposition in extracellular matrix of cultured fibroblasts.Human eye development is characterized by coordinated expression of fibrillin isoformsCell-surface processing of pro-ADAMTS9 by furinMarfan'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 disordersFunctional evolution of ADAMTS genes: evidence from analyses of phylogeny and gene organizationADAMTS proteinases: a multi-domain, multi-functional family with roles in extracellular matrix turnover and arthritis.Genetic and functional linkage between ADAMTS superfamily proteins and fibrillin-1: a novel mechanism influencing microfibril assembly and functionProteolytic processing of von Willebrand factor by adamts13 and leukocyte proteasesA new biological marker candidate in female reproductive system diseases: Matrix metalloproteinase with thrombospondin motifs (ADAMTS)Microenvironmental regulation by fibrillin-1ADAMTS proteins as modulators of microfibril formation and functionNovel SMAD4 mutation causing Myhre syndromeMutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndromeThe ADAMTS(L) family and human genetic disordersO-fucosylation of thrombospondin type 1 repeats in ADAMTS-like-1/punctin-1 regulates secretion: implications for the ADAMTS superfamilyMapping of the disease locus and identification of ADAMTS10 as a candidate gene in a canine model of primary open angle glaucomaThe secreted metalloprotease ADAMTS20 is required for melanoblast survivalBiosynthesis and expression of a disintegrin-like and metalloproteinase domain with thrombospondin-1 repeats-15: a novel versican-cleaving proteoglycanaseLTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucomaThe ADAMTS metalloproteinasesA case of Weill-Marchesani syndrome with inversion of chromosome 15.Biogenesis and function of fibrillin assemblies.An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures.ADAMTS9 is a cell-autonomously acting, anti-angiogenic metalloprotease expressed by microvascular endothelial cells.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.Clinical and genetic investigation of isolated microspherophakia in a consanguineous Tunisian family.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.ADAM and ADAMTS gene expression in native and wound healing human lens epithelial cellsA novel missense mutation in ADAMTS10 in Norwegian Elkhound primary glaucomaKnockout of Adamts7, a novel coronary artery disease locus in humans, reduces atherosclerosis in miceFibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactionsThe genetics of eye disorders in the dogC. elegans ADAMTS ADT-2 regulates body size by modulating TGFβ signaling and cuticle collagen organization.Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.
P2860
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P2860
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome
description
2004 nî lūn-bûn
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2004 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
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2004 թվականի նոյեմբերին հրատարակված գիտական հոդված
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2004年の論文
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2004年学术文章
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2004年学术文章
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2004年学术文章
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2004年学术文章
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2004年学术文章
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2004年學術文章
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name
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome
@ast
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome
@en
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome
@en-gb
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome
@nl
type
label
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome
@ast
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome
@en
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome
@en-gb
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome
@nl
prefLabel
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome
@ast
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome
@en
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome
@en-gb
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome
@nl
P2093
P2860
P50
P3181
P356
P1476
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome
@en
P2093
Abdulrahman Alswaid
Catherine Benoist-Lasselin
Nathalie Dagoneau
Yves Alembik
P2860
P3181
P356
10.1086/425231
P407
P50
P577
2004-11-01T00:00:00Z