Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome.
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Structural basis for fibroblast growth factor receptor 2 activation in Apert syndromeStructural basis by which alternative splicing confers specificity in fibroblast growth factor receptorsIntracellular retention, degradation, and signaling of glycosylation-deficient FGFR2 and craniosynostosis syndrome-associated FGFR2C278FGrowth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studiesReceptor specificity of the fibroblast growth factor family. The complete mammalian FGF familyFibroblast growth factor signaling in skeletal development and diseaseGenomic aberrations in the FGFR pathway: opportunities for targeted therapies in solid tumorsFunctional roles of fibroblast growth factor receptors (FGFRs) signaling in human cancersSignaling mechanisms implicated in cranial sutures pathophysiology: CraniosynostosisMolecular mechanisms of fibroblast growth factor signaling in physiology and pathologyEvidence that Fgf10 contributes to the skeletal and visceral defects of an Apert syndrome mouse modelGenomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosisEarly onset of craniosynostosis in an Apert mouse model reveals critical features of this pathologyMultiple phylogenetically distinct events shaped the evolution of limb skeletal morphologies associated with bipedalism in the jerboas.Fox-2 mediates epithelial cell-specific fibroblast growth factor receptor 2 exon choiceVirtual screening on an α-helix to β-strand switchable region of the FGFR2 extracellular domain revealed positive and negative modulators.Genetic rescue of Muenke syndrome model hearing loss reveals prolonged FGF-dependent plasticity in cochlear supporting cell fates.Activation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2(+P253R) mice.Quantification of facial skeletal shape variation in fibroblast growth factor receptor-related craniosynostosis syndromes.Role of FGFR2-signaling in the pathogenesis of acne.Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogoniaNeural crest cell signaling pathways critical to cranial bone development and pathology.Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes.Therapeutic effect of nanogel-based delivery of soluble FGFR2 with S252W mutation on craniosynostosis.The paternal-age effect in Apert syndrome is due, in part, to the increased frequency of mutations in sperm.Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongationA deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndromeFGF/FGFR signaling coordinates skull development by modulating magnitude of morphological integration: evidence from Apert syndrome mouse modelsBiochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities.Beyond the closed suture in apert syndrome mouse models: evidence of primary effects of FGFR2 signaling on facial shape at birth.Restoring fertility in sterile childhood cancer survivors by autotransplanting spermatogonial stem cells: are we there yet?Monoclonal antibodies to fibroblast growth factor receptor 2 effectively inhibit growth of gastric tumor xenograftsPaternal factors and schizophrenia risk: de novo mutations and imprintingThe Fibroblast Growth Factor signaling pathwayLoss-of-function fibroblast growth factor receptor-2 mutations in melanomaPerlecan maintains microvessel integrity in vivo and modulates their formation in vitroNovel molecular pathways elicited by mutant FGFR2 may account for brain abnormalities in Apert syndrome.FGFs, their receptors, and human limb malformations: clinical and molecular correlations.Genes, growth factors and acanthosis nigricans.A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes.
P2860
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P2860
Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome.
description
2000 nî lūn-bûn
@nan
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
2000年论文
@zh
2000年论文
@zh-cn
name
Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome.
@ast
Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome.
@en
type
label
Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome.
@ast
Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome.
@en
prefLabel
Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome.
@ast
Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome.
@en
P2860
P356
P1476
Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome
@en
P2860
P304
14536-14541
P356
10.1073/PNAS.97.26.14536
P407
P577
2000-12-01T00:00:00Z