A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene - Wikidata - awgldk - TriplyDB

A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene

A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene

http://www.wikidata.org/entity/Q34389067

about

Transformation and Stat activation by derivatives of FGFR1, FGFR3, and FGFR4 Identification of tyrosine residues in constitutively activated fibroblast growth factor receptor 3 involved in mitogenesis, Stat activation, and phosphatidylinositol 3-kinase activation A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome Clinical and biological characteristics of cervical neoplasias with FGFR3 mutation.Fibroblast growth factor signaling in skeletal development and disease Cracking the Molecular Origin of Intrinsic Tyrosine Kinase Activity through Analysis of Pathogenic Gain-of-Function Mutations Some chondrodysplasias with short limbs: molecular perspectives Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis Meclozine facilitates proliferation and differentiation of chondrocytes by attenuating abnormally activated FGFR3 signaling in achondroplasia Interaction of fibroblast growth factor receptor 3 and the adapter protein SH2-B. A role in STAT5 activation Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.MUC1 oncoprotein functions in activation of fibroblast growth factor receptor signaling The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor.Activating somatic FGFR2 mutations in breast cancer Genes, growth factors and acanthosis nigricans.The genetic basis for skeletal diseases.Genetically altered mouse models: the good, the bad, and the ugly.Role of FGF/FGFR signaling in skeletal development and homeostasis: learning from mouse models.Frequent FGFR3 mutations in papillary non-invasive bladder (pTa) tumors p38 Inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice.Novel Lys63-linked ubiquitination of IKKβ induces STAT3 signaling Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.The FGF family: biology, pathophysiology and therapy Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience : prenatal diagnosis in FGFR3 gene.The best-laid plans go oft awry: synaptogenic growth factor signaling in neuropsychiatric disease.Targeting mutant fibroblast growth factor receptors in cancer.Targeting fibroblast-growth-factor-receptor-dependent signaling for cancer therapy.Achondroplasia: Development, pathogenesis, and therapy.Nordihydroguaiaretic acid inhibits an activated fibroblast growth factor receptor 3 mutant and blocks downstream signaling in multiple myeloma cells Human immortalized chondrocytes carrying heterozygous FGFR3 mutations: an in vitro model to study chondrodysplasias.The phosphotyrosine phosphatase SHP2 is a critical mediator of transformation induced by the oncogenic fibroblast growth factor receptor 3.A novel alternatively spliced fibroblast growth factor receptor 3 isoform lacking the acid box domain is expressed during chondrogenic differentiation of ATDC5 cells.Acanthosis nigricans associated with an adrenocortical tumor in a pediatric patient.Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans.Modulation of alpha-catenin Tyr phosphorylation by SHP2 positively effects cell transformation induced by the constitutively active FGFR3.Signaling by FGFR in disease Signaling by activated point mutants of FGFR1 Signaling by FGFR3 in disease Signaling by FGFR3 point mutants in cancer

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P2860

A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene

http://www.wikidata.org/entity/Q34389067

description

1999 nî lūn-bûn

@nan

1999 թուականի Մարտին հրատարակուած գիտական յօդուած

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1999 թվականի մարտին հրատարակված գիտական հոդված

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1999年の論文

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1999年論文

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1999年論文

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1999年論文

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1999年論文

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1999年論文

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1999年论文

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name

A novel skeletal dysplasia wit ...... growth factor receptor 3 gene

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A novel skeletal dysplasia wit ...... growth factor receptor 3 gene

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A novel skeletal dysplasia wit ...... growth factor receptor 3 gene

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type

label

A novel skeletal dysplasia wit ...... growth factor receptor 3 gene

@ast

A novel skeletal dysplasia wit ...... growth factor receptor 3 gene

@en

A novel skeletal dysplasia wit ...... growth factor receptor 3 gene

@nl

prefLabel

A novel skeletal dysplasia wit ...... growth factor receptor 3 gene

@ast

A novel skeletal dysplasia wit ...... growth factor receptor 3 gene

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A novel skeletal dysplasia wit ...... growth factor receptor 3 gene

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American Journal of Human Genetics

P1476

A novel skeletal dysplasia wit ...... growth factor receptor 3 gene

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P2093

A E Fraley

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C A Francomano

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D J Donoghue

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I McIntosh

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J J Wasmuth

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J Szabo

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L M Thompson

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M K Webster

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P L Tavormina

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P2860

Identification of six novel autophosphorylation sites on fibroblast growth factor receptor 1 and elucidation of their importance in receptor activation and signal transduction

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

Structure of the FGF receptor tyrosine kinase domain reveals a novel autoinhibitory mechanism

High-efficiency transformation of mammalian cells by plasmid DNA

Structural and functional diversity in the FGF receptor multigene family

Ligand-independent activation of fibroblast growth factor receptors by point mutations in the extracellular, transmembrane, and kinase domains

Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia

Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I

Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)

Profound ligand-independent kinase activation of fibroblast growth factor receptor 3 by the activation loop mutation responsible for a lethal skeletal dysplasia, thanatophoric dysplasia type II

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722-731

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scholarly article

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10.1086/302275

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3

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64

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Ethylin Wang Jabs

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1999-03-01T00:00:00Z

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13237361

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