Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
about
Human disease-causing NOG missense mutations: effects on noggin secretion, dimer formation, and bone morphogenetic protein bindingActivating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2A GDF5 point mutation strikes twice--causing BDA1 and SYNS2New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistanceAutosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin.BMP receptor signaling is required for postnatal maintenance of articular cartilageTGF-β and BMP signaling in osteoblast, skeletal development, and bone formation, homeostasis and diseaseGenetics of primary ovarian insufficiency: new developments and opportunitiesStructural basis of BMP signalling inhibition by the cystine knot protein NogginThe clip-segment of the von Willebrand domain 1 of the BMP modulator protein Crossveinless 2 is preformedMutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndromeIdentical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangismRole of hindbrain in inner ear morphogenesis: analysis of Noggin knockout miceMutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGINRequirement for Jagged1-Notch2 signaling in patterning the bones of the mouse and human middle ear.Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance.Mutational analysis of NOG in esophageal atresia and tracheoesophageal fistula patients.Mechanisms balancing skeletal matrix synthesis and degradation.Development of articular cartilage: what do we know about it and how may it occur?Optimal effector functions in human natural killer cells rely upon autocrine bone morphogenetic protein signalingACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variantTemtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signalingLocalization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22GDF5 is a second locus for multiple-synostosis syndrome.Molecular-pathogenetic classification of genetic disorders of the skeleton.Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene.Synovial joints: from development to homeostasis.The genetic basis for skeletal diseases.Bmp signaling regulates a dose-dependent transcriptional program to control facial skeletal developmentAnswering a century old riddle: brachydactyly type A1.Conditional inactivation of noggin in the postnatal skeleton causes osteopeniaModulation of Bone Morphogenetic Protein (BMP) 2 gene expression by Sp1 transcription factors.Impaired osteoblastic differentiation, reduced bone formation, and severe osteoporosis in noggin-overexpressing mice.A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.A novel nonsense mutation in the NOG gene causes familial NOG-related symphalangism spectrum disorderTGF-beta signaling is essential for joint morphogenesis.The BMP signaling and in vivo bone formationMutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosisFunction of BMPs and BMP antagonists in adult bone.Development of the endochondral skeleton
P2860
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P2860
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
description
1999 nî lūn-bûn
@nan
1999 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի մարտին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
@ast
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
@en
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
@en-gb
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
@nl
type
label
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
@ast
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
@en
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
@en-gb
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
@nl
prefLabel
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
@ast
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
@en
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
@en-gb
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
@nl
P2093
P921
P3181
P356
P1433
P1476
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
@en
P2093
C A Francomano
C W Cremers
D Chitayat
D L Rimoin
F P Cremers
F R Goodman
H G Brunner
P2888
P3181
P356
10.1038/6821
P407
P577
1999-03-01T00:00:00Z
P6179
1001934905