Clinical spectrum of fibroblast growth factor receptor mutations.
about
Overexpression of transcripts originating from the MMSET locus characterizes all t(4;14)(p16;q32)-positive multiple myeloma patientsLocalisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutationFibroblast growth factor receptor signaling in hereditary and neoplastic disease: biologic and clinical implicationsA Molecular Brake in the Kinase Hinge Region Regulates the Activity of Receptor Tyrosine KinasesStructure of FGFR3 Transmembrane Domain Dimer: Implications for Signaling and Human PathologiesPaternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndromeSixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasiasA novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasiaMultiple consequences of a single amino acid pathogenic RTK mutation: the A391E mutation in FGFR3Characterization of membrane protein interactions in plasma membrane derived vesicles with quantitative imaging Förster resonance energy transferFGFR3 signaling induces a reversible senescence phenotype in chondrocytes similar to oncogene-induced premature senescenceHigh incidence of vesicoureteral reflux in mice with Fgfr2 deletion in kidney mesenchymaNF449 is a novel inhibitor of fibroblast growth factor receptor 3 (FGFR3) signaling active in chondrocytes and multiple myeloma cellsEffect of the G375C and G346E achondroplasia mutations on FGFR3 activation.Analysis of STAT1 activation by six FGFR3 mutants associated with skeletal dysplasia undermines dominant role of STAT1 in FGFR3 signaling in cartilageRole of fibroblast growth factor receptor signaling in kidney development.Pathogenic Cysteine Removal Mutations in FGFR Extracellular Domains Stabilize Receptor Dimers and Perturb the TM Dimer Structure.Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes.Bilateral squamosal suture synostosis: A rare form of isolated craniosynostosis in Crouzon syndrome.Common variation in the fibroblast growth factor receptor 2 gene is not associated with endometriosis risk.Sequence survey of receptor tyrosine kinases reveals mutations in glioblastomasBiochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities.Selective sweep mapping of genes with large phenotypic effects.Fasciculation and guidance of spinal motor axons in the absence of FGFR2 signalingA case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene.A novel FGFR3-binding peptide inhibits FGFR3 signaling and reverses the lethal phenotype of mice mimicking human thanatophoric dysplasia.Direct assessment of the effect of the Gly380Arg achondroplasia mutation on FGFR3 dimerization using quantitative imaging FRET.Role of receptor tyrosine kinase transmembrane domains in cell signaling and human pathologies.Activating somatic FGFR2 mutations in breast cancerMolecular and comparative genetics of mental retardation.Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi.FGFR3 heterodimerization in achondroplasia, the most common form of human dwarfism.Genes, growth factors and acanthosis nigricans.Attenuation of signaling pathways stimulated by pathologically activated FGF-receptor 2 mutants prevents craniosynostosis.Inhibited Wnt signaling causes age-dependent abnormalities in the bone matrix mineralization in the Apert syndrome FGFR2(S252W/+) miceA case of thanatophoric dysplasia type 2: a novel mutation.Role of FGF/FGFR signaling in skeletal development and homeostasis: learning from mouse models.3-Dimensional morphometric analysis of murine bladder development and dysmorphogenesis.Bioinformatics analysis of the target gene of fibroblast growth factor receptor 3 in bladder cancer and associated molecular mechanisms.p38 Inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice.
P2860
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P2860
Clinical spectrum of fibroblast growth factor receptor mutations.
description
1999 nî lūn-bûn
@nan
1999 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հունվարին 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
Clinical spectrum of fibroblast growth factor receptor mutations.
@ast
Clinical spectrum of fibroblast growth factor receptor mutations.
@en
type
label
Clinical spectrum of fibroblast growth factor receptor mutations.
@ast
Clinical spectrum of fibroblast growth factor receptor mutations.
@en
prefLabel
Clinical spectrum of fibroblast growth factor receptor mutations.
@ast
Clinical spectrum of fibroblast growth factor receptor mutations.
@en
P2093
P1433
P1476
Clinical spectrum of fibroblast growth factor receptor mutations.
@en
P2093
P304
P356
10.1002/(SICI)1098-1004(1999)14:2<115::AID-HUMU3>3.3.CO;2-U
P577
1999-01-01T00:00:00Z