A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
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Structural basis for fibroblast growth factor receptor 2 activation in Apert syndromeFibroblast growth factor receptor 1 is fused to FIM in stem-cell myeloproliferative disorder with t(8;13)Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesisGrowth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studiesUnusual linkage patterns of ligands and their cognate receptors indicate a novel reason for non-random gene order in the human genomeA Genetic-Pathophysiological Framework for CraniosynostosisTalocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanismThe genetic basis of female reproductive disorders: etiology and clinical testingPKC412 inhibits the zinc finger 198-fibroblast growth factor receptor 1 fusion tyrosine kinase and is active in treatment of stem cell myeloproliferative disorder.Receptors for fibroblast growth factorsPleiotropic 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 craniosynostosisThe protein kinase C pathway plays a central role in the fibroblast growth factor-stimulated expression and transactivation activity of Runx2Identification of a novel response element in the rat bone sialoprotein (BSP) gene promoter that mediates constitutive and fibroblast growth factor 2-induced expression of BSPConstitutive 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 domainsIncreased calvaria cell differentiation and bone matrix formation induced by fibroblast growth factor receptor 2 mutations in Apert syndromeActivating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domainCraniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.Genetic and familial predisposition to rotator cuff disease: a systematic review.Disease-causing mutation in extracellular and intracellular domain of FGFR1 protein: computational approach.Discordant phenotype in siblings with X-linked agammaglobulinemia.Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.The new dysmorphology: application of insights from basic developmental biology to the understanding of human birth defects.Increasing alternative promoter repertories is positively associated with differential expression and disease susceptibility.Clinical and molecular characterization of patients with distal 11q deletions.The genetic basis of normal and abnormal craniofacial development.Controlling destiny through chemistry: small-molecule regulators of cell fate.A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.Locus heterogeneity in progressive familial intrahepatic cholestasis.A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly.Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.Molecular mechanisms controlling lung morphogenesis.How is the Human Genome Project doing, and what have we learned so far?Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses.Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongationClinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.TrkA immunoglobulin-like ligand binding domains inhibit spontaneous activation of the receptorThe balance of WNT and FGF signaling influences mesenchymal stem cell fate during skeletal development.New insights into the relationship between suture closure and craniofacial dysmorphology in sagittal nonsyndromic craniosynostosis.
P2860
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P2860
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
description
1994 nî lūn-bûn
@nan
1994 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի նոյեմբերին 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
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
@ast
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
@en
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
@en-gb
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
@nl
type
label
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
@ast
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
@en
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
@en-gb
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
@nl
prefLabel
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
@ast
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
@en
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
@en-gb
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
@nl
P2093
P2860
P356
P1433
P1476
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
@en
P2093
A Schinzel
H W Losken
L J Pulleyn
P2860
P2888
P304
P356
10.1038/NG1194-269
P407
P577
1994-11-01T00:00:00Z
P5875
P6179
1010471561