about
Ollier diseaseExpanding 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?Genetic disorders of the skeleton: a developmental approachEnchondromatosis: insights on the different subtypes.Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.Ptpn11 deletion in a novel progenitor causes metachondromatosis by inducing hedgehog signalling.Unique mutation portraits and frequent COL2A1 gene alteration in chondrosarcoma.Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2.Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C.Review of therapeutic strategies for osteosarcoma, chondrosarcoma, and Ewing's sarcoma.Common somatic alterations identified in maffucci syndrome by molecular karyotypingConstitutive hedgehog signaling in chondrosarcoma up-regulates tumor cell proliferationDevelopmental pathways in musculoskeletal neoplasia: involvement of the Indian Hedgehog-parathyroid hormone-related protein pathway.The genetic basis for skeletal diseases.Primary neoplasms of bones in mice: retrospective study and review of literatureMutant IDH is sufficient to initiate enchondromatosis in mice.SHP2 regulates chondrocyte terminal differentiation, growth plate architecture and skeletal cell fatesInternational Union of Basic and Clinical Pharmacology. XCIII. The parathyroid hormone receptors--family B G protein-coupled receptors.Incidence, predictive factors, and prognosis of chondrosarcoma in patients with Ollier disease and Maffucci syndrome: an international multicenter study of 161 patientsFGFR3 Deficiency Causes Multiple Chondroma-like Lesions by Upregulating Hedgehog Signaling.Chronic myeloid leukemia in an adolescent with Ollier's disease after intensive X-ray exposure.Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndromeThe G protein-coupled receptors: pharmacogenetics and disease.[Hereditary bone tumors].Regulation of Cholesterol Homeostasis by Hedgehog Signaling in Osteoarthritic Cartilage.Premalignant conditions of bone.Loss of β-catenin induces multifocal periosteal chondroma-like masses in miceGene translocations in musculoskeletal neoplasms.Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma.Knee pain in a 9-year-old girl.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.Novel mutations in PTH1R associated with primary failure of eruption and osteoarthritis.From an orphan disease to a generalized molecular mechanism: PTPN11 loss-of-function mutations in the pathogenesis of metachondromatosisAberrant hedgehog signaling and clinical outcome in osteosarcoma.Enchondromatosis revisited: new classification with molecular basis.The role of hedgehog signalling in skeletal health and disease.IDH mutations in cancer and progress toward development of targeted therapeutics.
P2860
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P2860
description
2002 nî lūn-bûn
@nan
2002 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
A mutant PTH/PTHrP type I receptor in enchondromatosis.
@ast
A mutant PTH/PTHrP type I receptor in enchondromatosis.
@en
A mutant PTH/PTHrP type I receptor in enchondromatosis.
@nl
type
label
A mutant PTH/PTHrP type I receptor in enchondromatosis.
@ast
A mutant PTH/PTHrP type I receptor in enchondromatosis.
@en
A mutant PTH/PTHrP type I receptor in enchondromatosis.
@nl
prefLabel
A mutant PTH/PTHrP type I receptor in enchondromatosis.
@ast
A mutant PTH/PTHrP type I receptor in enchondromatosis.
@en
A mutant PTH/PTHrP type I receptor in enchondromatosis.
@nl
P2093
P356
P1433
P1476
A mutant PTH/PTHrP type I receptor in enchondromatosis.
@en
P2093
Benjamin A Alman
Chunying Yu
Harald Jüppner
Jay S Wunder
Nalan Gokgoz
Raymond Poon
Robert C Gensure
Robert S Bell
Sevan Hopyan
William G Cole
P2888
P304
P356
10.1038/NG844
P407
P577
2002-02-19T00:00:00Z
P6179
1027999649