A human chondrodysplasia due to a mutation in a TGF-beta superfamily member
about
Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame sizeSystemically administered bone morphogenetic protein-6 restores bone in aged ovariectomized rats by increasing bone formation and suppressing bone resorptionPrimary structure and tissue distribution of FRZB, a novel protein related to Drosophila frizzled, suggest a role in skeletal morphogenesisMutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndromeActivating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistanceAdenovirus-mediated expression of growth and differentiation factor-5 promotes chondrogenesis of adipose stem cells.The role of growth/differentiation factor 5 (GDF5) in the induction and survival of midbrain dopaminergic neurones: relevance to Parkinson's disease treatmentRobinow syndromeInterplay between bone morphogenetic proteins and cognate binding proteins in bone and cartilage development: noggin, chordin and DAN.Targets, models and challenges in osteoarthritis researchMutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome)Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasiaFunctional and molecular characterization of naturally occurring mutations in the oocyte-secreted factors bone morphogenetic protein-15 and growth and differentiation factor-9Mutations in CDMP1 cause autosomal dominant brachydactyly type CDisruption of human limb morphogenesis by a dominant negative mutation in CDMP1Bone morphogenetic protein type IA receptor signaling regulates postnatal osteoblast function and bone remodelingIdentification of type I and type II serine/threonine kinase receptors for growth/differentiation factor-5Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypesSkeletal abnormalities in doubly heterozygous Bmp4 and Bmp7 miceHomozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type GrebeA kinase domain-truncated type I receptor blocks bone morphogenetic protein-2-induced signal transduction in C2C12 myoblastsChondroitin sulfate N-acetylgalactosaminyltransferase 1 is necessary for normal endochondral ossification and aggrecan metabolismRole of CDMP-1 in skeletal morphogenesis: promotion of mesenchymal cell recruitment and chondrocyte differentiationGenome-wide association and functional studies identify the DOT1L gene to be involved in cartilage thickness and hip osteoarthritisGDF-5 deficiency in mice leads to disruption of tail tendon form and function.Therapeutic effects of adenovirus-mediated growth and differentiation factor-5 in a mice disc degeneration model induced by annulus needle puncture.Cloning and functional characterization of the 5'-flanking region of the human bone morphogenetic protein-2 gene.A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family.A consistent and potentially exploitable response during chondrogenesis of mesenchymal stem cells from osteoarthritis patients to the protein encoded by the susceptibility gene GDF5A general approach for identifying distant regulatory elements applied to the Gdf6 gene.BMP receptors in limb and tooth formation.Genetic disorders of the skeleton: a developmental approachPositive selection on the osteoarthritis-risk and decreased-height associated variants at the GDF5 gene in East AsiansAcromesomelic dysplasia Maroteaux type maps to human chromosome 9.Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27GDF5 is a second locus for multiple-synostosis syndrome.Molecular-pathogenetic classification of genetic disorders of the skeleton.SOX11 contributes to the regulation of GDF5 in joint maintenance.An extensive 3' regulatory region controls expression of Bmp5 in specific anatomical structures of the mouse embryo.
P2860
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P2860
A human chondrodysplasia due to a mutation in a TGF-beta superfamily member
description
1996 nî lūn-bûn
@nan
1996 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի մարտին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年学术文章
@wuu
1996年学术文章
@zh-cn
1996年学术文章
@zh-hans
1996年学术文章
@zh-my
1996年学术文章
@zh-sg
1996年學術文章
@yue
name
A human chondrodysplasia due to a mutation in a TGF-beta superfamily member
@ast
A human chondrodysplasia due to a mutation in a TGF-beta superfamily member
@en
A human chondrodysplasia due to a mutation in a TGF-beta superfamily member
@en-gb
A human chondrodysplasia due to a mutation in a TGF-beta superfamily member
@nl
type
label
A human chondrodysplasia due to a mutation in a TGF-beta superfamily member
@ast
A human chondrodysplasia due to a mutation in a TGF-beta superfamily member
@en
A human chondrodysplasia due to a mutation in a TGF-beta superfamily member
@en-gb
A human chondrodysplasia due to a mutation in a TGF-beta superfamily member
@nl
prefLabel
A human chondrodysplasia due to a mutation in a TGF-beta superfamily member
@ast
A human chondrodysplasia due to a mutation in a TGF-beta superfamily member
@en
A human chondrodysplasia due to a mutation in a TGF-beta superfamily member
@en-gb
A human chondrodysplasia due to a mutation in a TGF-beta superfamily member
@nl
P2093
P2860
P356
P1433
P1476
A human chondrodysplasia due to a mutation in a TGF-beta superfamily member
@en
P2093
P2860
P2888
P356
10.1038/NG0396-315
P407
P577
1996-03-01T00:00:00Z
P5875
P6179
1001778926