Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation - Wikidata - wikimedia - TriplyDB

Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation

Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation

http://www.wikidata.org/entity/Q33938586

about

FGF receptor-4 (FGFR4) polymorphism acts as an activity switch of a membrane type 1 matrix metalloproteinase-FGFR4 complex FGF23-mediated regulation of systemic phosphate homeostasis: is Klotho an essential player?A Genetic-Pathophysiological Framework for Craniosynostosis Fibroblast growth factor signaling in skeletal development and disease Fibroblast growth factor receptor signaling in hereditary and neoplastic disease: biologic and clinical implications FGF23 and Phosphate Wasting Disorders Skeletal secretion of FGF-23 regulates phosphate and vitamin D metabolism Regulation and function of the FGF23/klotho endocrine pathways Genetic disorders of phosphate regulation Dysregulated gene expression in the primary osteoblasts and osteocytes isolated from hypophosphatemic Hyp mice Identification of a novel FN1-FGFR1 genetic fusion as a frequent event in phosphaturic mesenchymal tumour Osteocyte-specific deletion of Fgfr1 suppresses FGF23 Genetic and familial predisposition to rotator cuff disease: a systematic review.Disease-causing mutation in extracellular and intracellular domain of FGFR1 protein: computational approach.FGF23 decreases renal NaPi-2a and NaPi-2c expression and induces hypophosphatemia in vivo predominantly via FGF receptor 1.Hypophosphatemic rickets: revealing novel control points for phosphate homeostasis.A missense mutation in Fgfr1 causes ear and skull defects in hush puppy mice.Osteoglophonic dysplasia: A 'common' mutation in a rare disease.The Fibroblast Growth Factor signaling pathway Role of receptor tyrosine kinase transmembrane domains in cell signaling and human pathologies.Characterization of FN1-FGFR1 and novel FN1-FGF1 fusion genes in a large series of phosphaturic mesenchymal tumors.Antibody-mediated activation of FGFR1 induces FGF23 production and hypophosphatemia.Bone proteins PHEX and DMP1 regulate fibroblastic growth factor Fgf23 expression in osteocytes through a common pathway involving FGF receptor (FGFR) signaling.FGF-23: More than a regulator of renal phosphate handling?FGFR1 signaling in hypertrophic chondrocytes is attenuated by the Ras-GAP neurofibromin during endochondral bone formation.Role of fibroblast growth factor (FGF) signaling in the neuroendocrine control of human reproduction.Membrane and integrative nuclear fibroblastic growth factor receptor (FGFR) regulation of FGF-23 Role of FGF/FGFR signaling in skeletal development and homeostasis: learning from mouse models.Phosphatonins: new hormones involved in numerous inherited bone disorders Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses.Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin Fibroblast growth factor receptor 1 (FGFR1) expression in phosphaturic mesenchymal tumors.FGF signaling in the developing endochondral skeleton.Fibroblast growth factor 21 (FGF21) inhibits chondrocyte function and growth hormone action directly at the growth plate Fibroblast growth factor receptor 1 signaling in the osteo-chondrogenic cell lineage regulates sequential steps of osteoblast maturation Fibroblast growth factor 23 and its receptors.New therapeutic targets in rare genetic skeletal diseases.Fibroblast growth factor 23: state of the field and future directions Circulating αKlotho influences phosphate handling by controlling FGF23 production Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis.

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P2860

Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation

http://www.wikidata.org/entity/Q33938586

description

2004 nî lūn-bûn

@nan

2004 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2004 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2004年の論文

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2004年論文

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2004年論文

@zh-hant

2004年論文

@zh-hk

2004年論文

@zh-mo

2004年論文

@zh-tw

2004年论文

@wuu

name

Mutations that cause osteoglop ...... s for FGFR1 in bone elongation

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Mutations that cause osteoglop ...... s for FGFR1 in bone elongation

@en

type

label

Mutations that cause osteoglop ...... s for FGFR1 in bone elongation

@ast

Mutations that cause osteoglop ...... s for FGFR1 in bone elongation

@en

prefLabel

Mutations that cause osteoglop ...... s for FGFR1 in bone elongation

@ast

Mutations that cause osteoglop ...... s for FGFR1 in bone elongation

@en

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American Journal of Human Genetics

P1476

Mutations that cause osteoglop ...... s for FGFR1 in bone elongation

@en

P2093

Carole McKeown

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

David Fitzpatrick

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

Joanna Fields

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

Jose M Cabral

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

Kai Yu

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

Kenneth E White

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

Neil J McLellan

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

Nick J Shaw

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

Shoji Ichikawa

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

Siobhan I Davis

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

P2860

Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome

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

Receptor specificity of the fibroblast growth factor family

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

Fibroblast growth factors

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

Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand

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

FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting

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361-367

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scholarly article

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10.1086/427956

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P433

2

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76

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David M. Ornitz

Michael J Econs

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2004-12-28T00:00:00Z

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8104555

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15625620

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1196382

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