A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes.
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Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teethFas-activated serine/threonine phosphoprotein (FAST) is a regulator of alternative splicingGrowth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studiesFGF10/FGFR2b signaling plays essential roles during in vivo embryonic submandibular salivary gland morphogenesisA Genetic-Pathophysiological Framework for CraniosynostosisGenetic insights into the mechanisms of Fgf signalingP63 alpha mutations lead to aberrant splicing of keratinocyte growth factor receptor in the Hay-Wells syndromeThe splicing factor PQBP1 regulates mesodermal and neural development through FGF signalingEvidence that Fgf10 contributes to the skeletal and visceral defects of an Apert syndrome mouse modelThe significance and scope of evolutionary developmental biology: a vision for the 21st centuryFuz mutant mice reveal shared mechanisms between ciliopathies and FGF-related syndromesEarly onset of craniosynostosis in an Apert mouse model reveals critical features of this pathologyFox-2 mediates epithelial cell-specific fibroblast growth factor receptor 2 exon choiceCellular signaling by fibroblast growth factors (FGFs) and their receptors (FGFRs) in male reproduction.Genetic characterisation of spontaneous ankylosing arthropathy with unique inheritance from Fas-deficient strains of miceActivation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2(+P253R) mice.Therapeutic effect of nanogel-based delivery of soluble FGFR2 with S252W mutation on craniosynostosis.A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndromeDiseases of pulmonary surfactant homeostasis.The Fibroblast Growth Factor signaling pathwayIntrinsic and innate defenses in the lung: intersection of pathways regulating lung morphogenesis, host defense, and repair.Fibroblast growth factors as regulators of central nervous system development and function.Alternative splicing in oncogenic kinases: from physiological functions to cancerRole of FGF/FGFR signaling in skeletal development and homeostasis: learning from mouse models.The impact of alternative splicing in vivo: mouse models show the way.Uncoupling fibroblast growth factor receptor 2 ligand binding specificity leads to Apert syndrome-like phenotypes.Fibroblast growth factor receptor 2 regulates proliferation and Sertoli differentiation during male sex determinationFGFR2 mutation in 46,XY sex reversal with craniosynostosisMolecular analysis of exons 8, 9 and 10 of the fibroblast growth factor receptor 2 (FGFR2) gene in two families with index cases of Apert SyndromeRegulation of the adrenocortical stem cell niche: implications for diseaseA case of Pfeiffer syndromeDrug-sensitive FGFR2 mutations in endometrial carcinomaNaevus comedonicus: a spectrum of body involvement.FGF signalling through Fgfr2 isoform IIIb regulates adrenal cortex development.Fibroblast growth factor 10 plays a causative role in the tracheal cartilage defects in a mouse model of Apert syndrome.Frontal nasal prominence expression driven by Tcfap2a relies on a conserved binding site for STAT proteins.Cardiac-specific inducible and conditional gene targeting in mice.A gain-of-function mutation of Fgfr2c demonstrates the roles of this receptor variant in osteogenesis.The role of vertebrate models in understanding craniosynostosis.The Fgfr2 W290R mouse model of Crouzon syndrome.
P2860
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P2860
A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes.
description
2001 nî lūn-bûn
@nan
2001 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի մարտին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
A splicing switch and gain-of- ...... ffer-syndrome-like phenotypes.
@en
type
label
A splicing switch and gain-of- ...... ffer-syndrome-like phenotypes.
@en
prefLabel
A splicing switch and gain-of- ...... ffer-syndrome-like phenotypes.
@en
P2093
P2860
P356
P1476
A splicing switch and gain-of- ...... ffer-syndrome-like phenotypes.
@en
P2093
De Moerlooze L
Hajihosseini MK
P2860
P304
P356
10.1073/PNAS.071586898
P407
P577
2001-03-01T00:00:00Z