Mutations in CDMP1 cause autosomal dominant brachydactyly type C
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Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame sizeBrachydactylyHuman disease-causing NOG missense mutations: effects on noggin secretion, dimer formation, and bone morphogenetic protein bindingMutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2The role of growth/differentiation factor 5 (GDF5) in the induction and survival of midbrain dopaminergic neurones: relevance to Parkinson's disease treatmentRobinow syndromeTargets, 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 chondrodysplasiaIncomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypesMutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGINHomozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type GrebeRole of CDMP-1 in skeletal morphogenesis: promotion of mesenchymal cell recruitment and chondrocyte differentiationGDF-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.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.Actions of hedgehog proteins on skeletal cells.Genetic disorders of the skeleton: a developmental approachA locus for brachydactyly type A-1 maps to chromosome 2q35-q36.Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation.Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneityGDF5 is a second locus for multiple-synostosis syndrome.Molecular-pathogenetic classification of genetic disorders of the skeleton.The identification of trans-acting factors that regulate the expression of GDF5 via the osteoarthritis susceptibility SNP rs143383.Nuclei pulposi formation from the embryonic notochord occurs normally in GDF-5-deficient mice.Digital development and morphogenesis.The genetic basis for skeletal diseases.Identification of duplication downstream of BMP2 in a Chinese family with brachydactyly type A2 (BDA2).Delayed fracture healing in growth differentiation factor 5-deficient mice: a pilot study.Answering a century old riddle: brachydactyly type A1.Heads, Shoulders, Elbows, Knees, and Toes: Modular Gdf5 Enhancers Control Different Joints in the Vertebrate SkeletonIdentification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement.Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.A rare variant in the osteoarthritis-associated locus GDF5 is functional and reveals a site that can be manipulated to modulate GDF5 expression.A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2.Genome-wide association study identified UQCC locus for spine bone size in humans.
P2860
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P2860
Mutations in CDMP1 cause autosomal dominant brachydactyly type C
description
1997 nî lūn-bûn
@nan
1997 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Mutations in CDMP1 cause autosomal dominant brachydactyly type C
@ast
Mutations in CDMP1 cause autosomal dominant brachydactyly type C
@en
Mutations in CDMP1 cause autosomal dominant brachydactyly type C
@nl
type
label
Mutations in CDMP1 cause autosomal dominant brachydactyly type C
@ast
Mutations in CDMP1 cause autosomal dominant brachydactyly type C
@en
Mutations in CDMP1 cause autosomal dominant brachydactyly type C
@nl
prefLabel
Mutations in CDMP1 cause autosomal dominant brachydactyly type C
@ast
Mutations in CDMP1 cause autosomal dominant brachydactyly type C
@en
Mutations in CDMP1 cause autosomal dominant brachydactyly type C
@nl
P2093
P2860
P356
P1433
P1476
Mutations in CDMP1 cause autosomal dominant brachydactyly type C
@en
P2093
A Polinkovsky
D Chitayat
F P Luyten
F R Goodman
H G Brunner
I van der Burgt
J T Thomas
P2860
P2888
P356
10.1038/NG0997-18
P407
P577
1997-09-01T00:00:00Z