Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.
about
The gene for cherubism maps to chromosome 4p16.A Genetic-Pathophysiological Framework for CraniosynostosisFluorophores, environments, and quantification techniques in the analysis of transmembrane helix interaction using FRETFunctional diversity of fibroblast growth factors in bone formationPleiotropic features of syndromic craniosynostoses correlate with differential expression of fibroblast growth factor receptors 1 and 2 during human craniofacial developmentGenomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosisMultiple consequences of a single amino acid pathogenic RTK mutation: the A391E mutation in FGFR3Gain-of-function mutation in FGFR3 in mice leads to decreased bone mass by affecting both osteoblastogenesis and osteoclastogenesisGuideline for Care of Patients With the Diagnoses of Craniosynostosis: Working Group on CraniosynostosisEffect 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 activationCraniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.FGFR2 point mutations in 466 endometrioid endometrial tumors: relationship with MSI, KRAS, PIK3CA, CTNNB1 mutations and clinicopathological featuresCharacterization of membrane protein interactions in plasma membrane derived vesicles with quantitative imaging Förster resonance energy transferEffect of the G375C and G346E achondroplasia mutations on FGFR3 activation.Somatic mutation of epidermal growth factor receptor in a small subset of cutaneous squamous cell carcinoma.A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.Is fibroblast growth factor receptor 4 a suitable target of cancer therapy?Pathogenic Cysteine Removal Mutations in FGFR Extracellular Domains Stabilize Receptor Dimers and Perturb the TM Dimer Structure.Bilateral squamosal suture synostosis: A rare form of isolated craniosynostosis in Crouzon syndrome.Coupling of transmembrane helix orientation to membrane release of the juxtamembrane region in FGFR3Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 geneThe gene for cherubism maps to chromosome 4p16.3.The Fibroblast Growth Factor signaling pathwayRole of receptor tyrosine kinase transmembrane domains in cell signaling and human pathologies.Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi.Rotational coupling of the transmembrane and kinase domains of the Neu receptor tyrosine kinase.FGFR3 heterodimerization in achondroplasia, the most common form of human dwarfism.Unclassifiable craniosynostosis phenotypes, FGFR2 Trp290 mutations, acanthosis nigricans, and unpaired cysteine mutations.A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locusActual concepts in scaphocephaly : (an experience of 98 cases).Signaling pathways in osteogenesis and osteoclastogenesis: Lessons from cranial sutures and applications to regenerative medicine.Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses.Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome.Application of Laser Capture Microdissection to Craniofacial Biology: Characterization of Anatomically Relevant Gene Expression in Normal and Craniosynostotic Rabbit Sutures.Crouzon syndrome: a social stigma.Ala344Pro mutation in the FGFR2 gene and related clinical findings in one Chinese family with Crouzon syndrome.p38 Inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice.
P2860
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P2860
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.
description
1995 nî lūn-bûn
@nan
1995 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年学术文章
@wuu
1995年学术文章
@zh-cn
1995年学术文章
@zh-hans
1995年学术文章
@zh-my
1995年学术文章
@zh-sg
1995年學術文章
@yue
name
Fibroblast growth factor recep ...... ome with acanthosis nigricans.
@ast
Fibroblast growth factor recep ...... ome with acanthosis nigricans.
@en
type
label
Fibroblast growth factor recep ...... ome with acanthosis nigricans.
@ast
Fibroblast growth factor recep ...... ome with acanthosis nigricans.
@en
prefLabel
Fibroblast growth factor recep ...... ome with acanthosis nigricans.
@ast
Fibroblast growth factor recep ...... ome with acanthosis nigricans.
@en
P2093
P356
P1433
P1476
Fibroblast growth factor recep ...... ome with acanthosis nigricans.
@en
P2093
P2888
P304
P356
10.1038/NG1295-462
P407
P577
1995-12-01T00:00:00Z
P5875
P6179
1033775020