Analysis of a gain-of-function FGFR2 Crouzon mutation provides evidence of loss of function activity in the etiology of cleft palate. - Wikidata - awgldk - TriplyDB

Analysis of a gain-of-function FGFR2 Crouzon mutation provides evidence of loss of function activity in the etiology of cleft palate.

Analysis of a gain-of-function FGFR2 Crouzon mutation provides evidence of loss of function activity in the etiology of cleft palate.

http://www.wikidata.org/entity/Q33664279

about

Cranial neural crest ablation of Jagged1 recapitulates the craniofacial phenotype of Alagille syndrome patients Fuz mutant mice reveal shared mechanisms between ciliopathies and FGF-related syndromes Beyond the closed suture in apert syndrome mouse models: evidence of primary effects of FGFR2 signaling on facial shape at birth.Site-specific expression of gelatinolytic activity during morphogenesis of the secondary palate in the mouse embryo A glance at methods for cleft palate repair.Neural crest-specific deletion of Ldb1 leads to cleft secondary palate with impaired palatal shelf elevation Palate morphogenesis: current understanding and future directions.Palatogenesis: morphogenetic and molecular mechanisms of secondary palate development Histomorphological study of palatal shelf elevation during murine secondary palate formation.Altered FGF Signaling Pathways Impair Cell Proliferation and Elevation of Palate Shelves.FGFR2 molecular analysis and related clinical findings in one Chinese family with Crouzon syndrome FGFR2 mutation in 46,XY sex reversal with craniosynostosis Mice with Tak1 deficiency in neural crest lineage exhibit cleft palate associated with abnormal tongue development.From shape to cells: mouse models reveal mechanisms altering palate development in Apert syndrome Strain-Dependent Gene Expression during Mouse Embryonic Palate Development Type 1 fibroblast growth factor receptor in cranial neural crest cell-derived mesenchyme is required for palatogenesis.Golgb1 regulates protein glycosylation and is crucial for mammalian palate development Molecular analysis of FGFR 2 and associated clinical observations in two Chinese families with Crouzon syndrome Quantification of shape and cell polarity reveals a novel mechanism underlying malformations resulting from related FGF mutations during facial morphogenesis.Integration of Brain and Skull in Prenatal Mouse Models of Apert and Crouzon Syndromes.Divergent effects of intrinsically active MEK variants on developmental Ras signaling.Tissue-specific responses to aberrant FGF signaling in complex head phenotypes.Mesenchymal fibroblast growth factor receptor signaling regulates palatal shelf elevation during secondary palate formation.C278F mutation in FGFR2 gene causes two different types of syndromic craniosynostosis in two Chinese patients.Occurrence of cleft-palate and alteration of Tgf-β(3) expression and the mechanisms leading to palatal fusion in mice following dietary folic-acid deficiency.Multi-layered hypertrophied MEE formation by microtubule disruption via GEF-H1/RhoA/ROCK signaling pathway.Increased FGF8 signaling promotes chondrogenic rather than osteogenic development in the embryonic skull.

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P2860

Analysis of a gain-of-function FGFR2 Crouzon mutation provides evidence of loss of function activity in the etiology of cleft palate.

http://www.wikidata.org/entity/Q33664279

description

2010 nî lūn-bûn

@nan

2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի փետրվարին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

@zh-hk

2010年論文

@zh-mo

2010年論文

@zh-tw

2010年论文

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name

Analysis of a gain-of-function ...... the etiology of cleft palate.

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Analysis of a gain-of-function ...... the etiology of cleft palate.

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type

label

Analysis of a gain-of-function ...... the etiology of cleft palate.

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Analysis of a gain-of-function ...... the etiology of cleft palate.

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prefLabel

Analysis of a gain-of-function ...... the etiology of cleft palate.

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Analysis of a gain-of-function ...... the etiology of cleft palate.

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PNAS.0913985107

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Proceedings of the National Academy of Sciences of the United States of America

P1476

Analysis of a gain-of-function ...... n the etiology of cleft palate

@en

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Alison K Snyder-Warwick

http://www.w3.org/2001/XMLSchema#string

Chad A Perlyn

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Jing Pan

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Kai Yu

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Lijuan Zhang

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P2860

Cellular signaling by fibroblast growth factor receptors

Impaired FGF signaling contributes to cleft lip and palate

Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations

Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis

Coordination of chondrogenesis and osteogenesis by fibroblast growth factor 18

Disruption of Fgf10/Fgfr2b-coordinated epithelial-mesenchymal interactions causes cleft palate

Palatal shelf elevation in the Wistar rat fetus

Cellular activity in the developing palate of the rat assessed by the staining of nucleolar organiser regions.

FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease.

Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome

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2515-2520

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David M. Ornitz

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41408511

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20133659

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2823872

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