Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C. - Wikidata - awgldk - TriplyDB

Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C.

Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C.

http://www.wikidata.org/entity/Q34552391

about

Ollier disease Expanding the spectrum of PTH1R mutations in patients with primary failure of tooth eruption.Do intracranial neoplasms differ in Ollier disease and maffucci syndrome? An in-depth analysis of the literature.Unilateral mosaic cutaneous vascular lesions, enchondroma, multiple soft tissue chondromas and congenital fibrosarcoma--a variant of Maffucci syndrome?Enchondromatosis: insights on the different subtypes.Chondrosarcoma: with updates on molecular genetics.Common somatic alterations identified in maffucci syndrome by molecular karyotyping Constitutive hedgehog signaling in chondrosarcoma up-regulates tumor cell proliferation Incidence, predictive factors, and prognosis of chondrosarcoma in patients with Ollier disease and Maffucci syndrome: an international multicenter study of 161 patients Knee chondrosarcoma secondary to Ollier's disease: a report of one case with twelve-year follow-up.Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome Loss of β-catenin induces multifocal periosteal chondroma-like masses in mice Pseudohypoparathyroidism type I-b with neurological involvement is associated with a homozygous PTH1R mutation.PTHR1 mutations associated with Ollier disease result in receptor loss of function.Chondrosarcoma of the proximal humerus secondary to ollier disease: an 8-year follow-up of successful resection of the tumor with endoprosthetic replacement of the proximal humerus.Patched-one or smoothened gene mutations are infrequent in chondrosarcoma.Genome-wide analysis of Ollier disease: Is it all in the genes?Maffucci syndrome: a genome-wide analysis using high resolution single nucleotide polymorphism and expression arrays on four cases.Genetic alterations in chondrosarcomas - keys to targeted therapies?Absence of IHH and retention of PTHrP signalling in enchondromas and central chondrosarcomas.

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Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C.

http://www.wikidata.org/entity/Q34552391

description

2004 nî lūn-bûn

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2004 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

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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

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2004年論文

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2004年論文

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2004年論文

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2004年论文

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name

Enchondromatosis (Ollier disea ...... by the PTHR1 mutation p.R150C.

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Enchondromatosis (Ollier disea ...... by the PTHR1 mutation p.R150C.

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Enchondromatosis (Ollier disea ...... by the PTHR1 mutation p.R150C.

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Enchondromatosis (Ollier disea ...... by the PTHR1 mutation p.R150C.

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Enchondromatosis (Ollier disea ...... by the PTHR1 mutation p.R150C.

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Enchondromatosis (Ollier disea ...... by the PTHR1 mutation p.R150C.

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Enchondromatosis (Ollier disea ...... by the PTHR1 mutation p.R150C.

@en

P2093

Anne Marie Cleton-Jansen

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

F Bertoni

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

Inge H Briaire-de Bruijn

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Judith V M G Bovée

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Leida B Rozeman

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Luca Sangiorgi

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Pancras C W Hogendoorn

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Pierre Mainil-Varlet

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P2860

A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia

Bcl-2 lies downstream of parathyroid hormone-related peptide in a signaling pathway that regulates chondrocyte maturation during skeletal development

Site-directed mutagenesis by overlap extension using the polymerase chain reaction

Targeted expression of constitutively active receptors for parathyroid hormone and parathyroid hormone-related peptide delays endochondral bone formation and rescues mice that lack parathyroid hormone-related peptide.

New perspectives on the molecular basis of hereditary bone tumours.

Molecular properties of the PTH/PTHrP receptor.

Maffucci's syndrome: clinical and radiological features of a rare condition.

Regulatory mechanisms in the pathways of cartilage and bone formation.

A mutant PTH/PTHrP type I receptor in enchondromatosis.

Toward a molecular understanding of skeletal development.

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466-473

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scholarly article

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10.1002/HUMU.20095

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6

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24

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2004-12-01T00:00:00Z

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8196227

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15523647

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