ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation
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Genetic architecture of body size in mammalsEvolutionary divergence and functions of the ADAM and ADAMTS gene familiesADAMTS10 protein interacts with fibrillin-1 and promotes its deposition in extracellular matrix of cultured fibroblasts.A disintegrin-like and metalloprotease domain containing thrombospondin type 1 motif-like 5 (ADAMTSL5) is a novel fibrillin-1-, fibrillin-2-, and heparin-binding member of the ADAMTS superfamily containing a netrin-like moduleA disintegrin-like and metalloprotease (reprolysin-type) with thrombospondin type 1 motif (ADAMTS) superfamily: functions and mechanismsADAM and ADAMTS Family Proteins and Snake Venom Metalloproteinases: A Structural OverviewGenetic and functional linkage between ADAMTS superfamily proteins and fibrillin-1: a novel mechanism influencing microfibril assembly and functionTGF-β signaling in C. elegansEducational paper. Connective tissue disorders with vascular involvement: from gene to therapyThe conserved ADAMTS-like protein lonely heart mediates matrix formation and cardiac tissue integrityMicroenvironmental regulation by fibrillin-1ADAMTS proteins as modulators of microfibril formation and functionNovel SMAD4 mutation causing Myhre syndromeThe ADAMTS(L) family and human genetic disordersO-fucosylation of thrombospondin type 1 repeats restricts epithelial to mesenchymal transition (EMT) and maintains epiblast pluripotency during mouse gastrulationADAMTSL-6 is a novel extracellular matrix protein that binds to fibrillin-1 and promotes fibrillin-1 fibril formationE-selectin ligand-1 regulates growth plate homeostasis in mice by inhibiting the intracellular processing and secretion of mature TGF-betaAdamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia--a novel mouse model providing insights into geleophysic dysplasiaSystematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variantMolecular profiling of the developing mouse axial skeleton: a role for Tgfbr2 in the development of the intervertebral disc.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.Two distinct regions of latency-associated peptide coordinate stability of the latent transforming growth factor-beta1 complex.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.C. elegans ADAMTS ADT-2 regulates body size by modulating TGFβ signaling and cuticle collagen organization.Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.ADAMTSL6β protein rescues fibrillin-1 microfibril disorder in a Marfan syndrome mouse model through the promotion of fibrillin-1 assembly.Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.Cardiac physiologic and genetic predictors of hyperoxia-induced acute lung injury in mice.Matrix-dependent perturbation of TGFβ signaling and diseaseE-selectin ligand 1 regulates bone remodeling by limiting bioactive TGF-β in the bone microenvironmentNext-generation sequencing for disorders of low and high bone mineral density.Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.Impaired ADAMTS9 secretion: A potential mechanism for eye defects in Peters Plus Syndrome.Post-translational modification of thrombospondin type-1 repeats in ADAMTS-like 1/punctin-1 by C-mannosylation of tryptophan.Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia.Lamin-B1 contributes to the proper timing of epicardial cell migration and function during embryonic heart development.
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P2860
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation
description
2008 nî lūn-bûn
@nan
2008 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
ADAMTSL2 mutations in geleophy ...... eta bioavailability regulation
@ast
ADAMTSL2 mutations in geleophy ...... eta bioavailability regulation
@en
ADAMTSL2 mutations in geleophy ...... eta bioavailability regulation
@en-gb
ADAMTSL2 mutations in geleophy ...... eta bioavailability regulation
@nl
type
label
ADAMTSL2 mutations in geleophy ...... eta bioavailability regulation
@ast
ADAMTSL2 mutations in geleophy ...... eta bioavailability regulation
@en
ADAMTSL2 mutations in geleophy ...... eta bioavailability regulation
@en-gb
ADAMTSL2 mutations in geleophy ...... eta bioavailability regulation
@nl
prefLabel
ADAMTSL2 mutations in geleophy ...... eta bioavailability regulation
@ast
ADAMTSL2 mutations in geleophy ...... eta bioavailability regulation
@en
ADAMTSL2 mutations in geleophy ...... eta bioavailability regulation
@en-gb
ADAMTSL2 mutations in geleophy ...... eta bioavailability regulation
@nl
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P3181
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ADAMTSL2 mutations in geleophy ...... eta bioavailability regulation
@en
P2093
Catherine Prost-Squarcioni
Claire Perrot
Damien Bonnet
Deborah Krakow
Elisabeth Flori
Fanny Morice-Picard
Florence Bauer
Gaoxiang Ge
Lauren W Wang
Nathalie Dagoneau
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P2888
P304
P3181
P356
10.1038/NG.199
P407
P50
P577
2008-09-01T00:00:00Z
P5875
P6179
1033147649