Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
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Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesisA Genetic-Pathophysiological Framework for CraniosynostosisFGF receptors: cancer biology and therapeuticsPleiotropic 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 craniosynostosisActivating 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.Therapeutic effect of nanogel-based delivery of soluble FGFR2 with S252W mutation on craniosynostosis.Soluble dominant-negative receptor uncovers essential roles for fibroblast growth factors in multi-organ induction and patterning.Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongationDe novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndromeRole of receptor tyrosine kinase transmembrane domains in cell signaling and human pathologies.Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome.Unclassifiable craniosynostosis phenotypes, FGFR2 Trp290 mutations, acanthosis nigricans, and unpaired cysteine mutations.Analysis of a Caenorhabditis elegans Twist homolog identifies conserved and divergent aspects of mesodermal patterning.A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.Signaling pathways in osteogenesis and osteoclastogenesis: Lessons from cranial sutures and applications to regenerative medicine.Decreased proliferation and altered differentiation in osteoblasts from genetically and clinically distinct craniosynostotic disorders.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.p38 Inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice.FGF signaling in the developing endochondral skeleton.New therapeutic targets in rare genetic skeletal diseases.P450 oxidoreductase deficiency: a new disorder of steroidogenesis.Chimeras of the native form or achondroplasia mutant (G375C) of human fibroblast growth factor receptor 3 induce ligand-dependent differentiation of PC12 cells.Syndromic craniosynostosis: from history to hydrogen bonds.The first Korean case of Beare-Stevenson syndrome with a Tyr375Cys mutation in the fibroblast growth factor receptor 2 geneHypodontia in Beare-Stevenson syndrome: an example of dental anomalies in FGFR-related craniosynostosis syndromes.Single-spanning transmembrane domains in cell growth and cell-cell interactions: More than meets the eye?Targeting mutant fibroblast growth factor receptors in cancer.Echotomography of craniosynostosis: review of literature.Apert syndrome mutant FGFR2 and its soluble form reciprocally alter osteogenesis of primary calvarial osteoblasts.A soluble form of fibroblast growth factor receptor 2 (FGFR2) with S252W mutation acts as an efficient inhibitor for the enhanced osteoblastic differentiation caused by FGFR2 activation in Apert syndrome.A Case of Beare-Stevenson Syndrome with Unusual Manifestations.Skeletal dysplasias detectable by DNA analysis.Altered CYP19A1 and CYP3A4 Activities Due to Mutations A115V, T142A, Q153R and P284L in the Human P450 Oxidoreductase.Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome.Activated point mutants of FGFR2Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.Syndromic craniosynostosis with elbow joint contracture.
P2860
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P2860
Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年学术文章
@wuu
1996年学术文章
@zh-cn
1996年学术文章
@zh-hans
1996年学术文章
@zh-my
1996年学术文章
@zh-sg
1996年學術文章
@yue
1996年學術文章
@zh
1996年學術文章
@zh-hant
name
Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
@en
Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
@nl
type
label
Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
@en
Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
@nl
prefLabel
Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
@en
Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
@nl
P2093
P2860
P356
P1433
P1476
Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
@en
P2093
Bamshad MJ
Cohen MM Jr
Paznekas W
Przylepa KA
P2860
P2888
P304
P356
10.1038/NG0896-492
P407
P577
1996-08-01T00:00:00Z