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

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

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

http://www.wikidata.org/entity/Q28344714

about

The ups and downs of mutation frequencies during aging can account for the Apert syndrome paternal age effect Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype Analysis of mutations in fibroblast growth factor (FGF) and a pathogenic mutation in FGF receptor (FGFR) provides direct evidence for the symmetric two-end model for FGFR dimerization Genetic Syndromes Associated with Craniosynostosis Functional roles of fibroblast growth factor receptors (FGFRs) signaling in human cancers A Molecular Brake in the Kinase Hinge Region Regulates the Activity of Receptor Tyrosine Kinases Cracking the Molecular Origin of Intrinsic Tyrosine Kinase Activity through Analysis of Pathogenic Gain-of-Function Mutations Structural Mimicry of A-Loop Tyrosine Phosphorylation by a Pathogenic FGF Receptor 3 Mutation Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease Positive selection for new disease mutations in the human germline: evidence from the heritable cancer syndrome multiple endocrine neoplasia type 2B Guideline for Care of Patients With the Diagnoses of Craniosynostosis: Working Group on Craniosynostosis Predicting the impact of deleterious mutations in the protein kinase domain of FGFR2 in the context of function, structure, and pathogenesis--a bioinformatics approach.Identification of FGFR4-activating mutations in human rhabdomyosarcomas that promote metastasis in xenotransplanted models.Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.Apert syndrome: temporal lobe abnormalities on fetal brain imaging.Identification of phosphopeptides by MALDI Q-TOF MS in positive and negative ion modes after methyl esterification.Analysis of a gain-of-function FGFR2 Crouzon mutation provides evidence of loss of function activity in the etiology of cleft palate.Somatic mutation of epidermal growth factor receptor in a small subset of cutaneous squamous cell carcinoma.Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia A Korean family with the Muenke syndrome Sequence survey of receptor tyrosine kinases reveals mutations in glioblastomas Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities.SHIP2, a factor associated with diet-induced obesity and insulin sensitivity, attenuates FGF signaling in vivo.FGFs, their receptors, and human limb malformations: clinical and molecular correlations.Unclassifiable craniosynostosis phenotypes, FGFR2 Trp290 mutations, acanthosis nigricans, and unpaired cysteine mutations.Pfeiffer syndrome: clinical and genetic findings in five Brazilian families.Genetically altered mouse models: the good, the bad, and the ugly.FGFR2 molecular analysis and related clinical findings in one Chinese family with Crouzon syndrome Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses.FGFR2 mutation in 46,XY sex reversal with craniosynostosis Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.The FGF family: biology, pathophysiology and therapy Understanding craniosynostosis as a growth disorder 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.Understanding what determines the frequency and pattern of human germline mutations.

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P2860

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

http://www.wikidata.org/entity/Q28344714

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2002 nî lūn-bûn

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2002 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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2002 թվականի փետրվարին հրատարակված գիտական հոդված

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2002年の論文

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Genomic screening of fibroblas ...... ith syndromic craniosynostosis

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Genomic screening of fibroblas ...... ith syndromic craniosynostosis

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Genomic screening of fibroblas ...... ith syndromic craniosynostosis

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Genomic screening of fibroblas ...... ith syndromic craniosynostosis

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Genomic screening of fibroblas ...... ith syndromic craniosynostosis

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Genomic screening of fibroblas ...... ith syndromic craniosynostosis

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Genomic screening of fibroblas ...... ith syndromic craniosynostosis

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American Journal of Human Genetics

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Genomic screening of fibroblas ...... ith syndromic craniosynostosis

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David Johnson

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Elaine H Zackai

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Elsa W Reich

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Jackie Cook

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Laura Cornejo-Roldan

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Navaratnam Elanko

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Sahan Rannan-Eliya

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Shih-hsin Kan

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Stephen R F Twigg

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Steven A Wall

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P2860

Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis

Structural basis for FGF receptor dimerization and activation

Structural interactions of fibroblast growth factor receptor with its ligands

Crystal structure of fibroblast growth factor receptor ectodomain bound to ligand and heparin

Cloning and expression of two distinct high-affinity receptors cross-reacting with acidic and basic fibroblast growth factors

Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2

Receptor specificity of the fibroblast growth factor family

Fibroblast growth factor receptor 3 is a negative regulator of bone growth

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2

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Andrew Oliver Mungo Wilkie

Maximilian Muenke

Donna M McDonald-McGinn

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11576075

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craniosynostosis

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