Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia.
about
Genetic architecture of body size in mammalsThe ups and downs of mutation frequencies during aging can account for the Apert syndrome paternal age effectParental Autonomy and the Obligation Not to Harm One's Child GeneticallyMutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndromeH-RYK, an unusual receptor kinase: isolation and analysis of expression in ovarian cancerA common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndromeJackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2Generation of Fgfr3 conditional knockout miceClinical and genetic heterogeneity of hypochondroplasiaThe gene for cherubism maps to chromosome 4p16.Rates of spontaneous mutationThe high spontaneous mutation rate: is it a health risk?Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton functionUncertainty principle of genetic information in a living cell.Human induced pluripotent stem cells for monogenic disease modelling and therapyFibroblast growth factor signaling in skeletal development and diseaseDiscovery of Novel Fibroblast Growth Factor Receptor 1 Kinase Inhibitors by Structure-Based Virtual ScreeningGenetic insights into the mechanisms of Fgf signalingSome chondrodysplasias with short limbs: molecular perspectivesPseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndromeFrequent translocation t(4;14)(p16.3;q32.3) in multiple myeloma is associated with increased expression and activating mutations of fibroblast growth factor receptor 3Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasiasNovel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasiaThe transmembrane domain of TACE regulates protein ectodomain sheddingAdvances in Skeletal Dysplasia GeneticsPositional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative GroupReceptors for fibroblast growth factorsSignal transduction pathway of human fibroblast growth factor receptor 3. Identification of a novel 66-kDa phosphoproteinMultiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null miceRegulation of osteoblast, chondrocyte, and osteoclast functions by fibroblast growth factor (FGF)-18 in comparison with FGF-2 and FGF-10Meclozine facilitates proliferation and differentiation of chondrocytes by attenuating abnormally activated FGFR3 signaling in achondroplasiaE-selectin ligand-1 regulates growth plate homeostasis in mice by inhibiting the intracellular processing and secretion of mature TGF-betaFGF18 is required for normal cell proliferation and differentiation during osteogenesis and chondrogenesisDwarfism and early death in mice lacking C-type natriuretic peptideFGF9 regulates early hypertrophic chondrocyte differentiation and skeletal vascularization in the developing stylopodConstitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimerasLigand-independent activation of fibroblast growth factor receptors by point mutations in the extracellular, transmembrane, and kinase domainsEffect of transmembrane and kinase domain mutations on fibroblast growth factor receptor 3 chimera signaling in PC12 cells. A model for the control of receptor tyrosine kinase activationConstitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasiaPreclinical studies of fibroblast growth factor receptor 3 as a therapeutic target in multiple myeloma
P2860
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P2860
Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia.
description
1994 nî lūn-bûn
@nan
1994 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Mutations in the transmembrane ...... m of dwarfism, achondroplasia.
@ast
Mutations in the transmembrane ...... m of dwarfism, achondroplasia.
@en
Mutations in the transmembrane ...... m of dwarfism, achondroplasia.
@nl
type
label
Mutations in the transmembrane ...... m of dwarfism, achondroplasia.
@ast
Mutations in the transmembrane ...... m of dwarfism, achondroplasia.
@en
Mutations in the transmembrane ...... m of dwarfism, achondroplasia.
@nl
prefLabel
Mutations in the transmembrane ...... m of dwarfism, achondroplasia.
@ast
Mutations in the transmembrane ...... m of dwarfism, achondroplasia.
@en
Mutations in the transmembrane ...... m of dwarfism, achondroplasia.
@nl
P2093
P1433
P1476
Mutations in the transmembrane ...... m of dwarfism, achondroplasia.
@en
P2093
Fielder TJ
Thompson LM
Wasmuth JJ
Winokur ST
P304
P356
10.1016/0092-8674(94)90302-6
P407
P577
1994-07-01T00:00:00Z