An activating Gs alpha mutation is present in fibrous dysplasia of bone in the McCune-Albright syndrome.
about
Osteochondromyxoma: Review of a rare carney complex criterionThe new dysmorphology: application of insights from basic developmental biology to the understanding of human birth defects.Frequency of GNAS R201H substitution mutation in polyostotic fibrous dysplasia: Pyrosequencing analysis in tissue samples with or without decalcification.A novel technique based on a PNA hybridization probe and FRET principle for quantification of mutant genotype in fibrous dysplasia/McCune-Albright syndrome.Osteoblast-specific expression of the fibrous dysplasia (FD)-causing mutation Gsα(R201C) produces a high bone mass phenotype but does not reproduce FD in the mouse.Constitutive expression of Gsα(R201C) in mice produces a heritable, direct replica of human fibrous dysplasia bone pathology and demonstrates its natural history.Fibrous dysplasia of bone in the McCune-Albright syndrome: abnormalities in bone formation.Potent constitutive cyclic AMP-generating activity of XLαs implicates this imprinted GNAS product in the pathogenesis of McCune-Albright syndrome and fibrous dysplasia of bone.Bone-Grafting in Polyostotic Fibrous Dysplasia.Quantitative analysis of activating alpha subunit of the G protein (Gsα) mutation by pyrosequencing in fibrous dysplasia and other bone lesionsIncreased proliferation of osteoblastic cells expressing the activating Gs alpha mutation in monostotic and polyostotic fibrous dysplasia.Fibrous dysplasia of bone: the bone lesion unmasked.Characteristics and Treatment Results of 5 Patients with Fibrous Dysplasia and Review of the Literature.A comparative study of fibrous dysplasia and osteofibrous dysplasia with regard to Gsalpha mutation at the Arg201 codon: polymerase chain reaction-restriction fragment length polymorphism analysis of paraffin-embedded tissues.Cyclic AMP signaling in bone marrow stromal cells has reciprocal effects on the ability of mesenchymal stem cells to differentiate into mature osteoblasts versus mature adipocytes.Mutation of Prkar1a causes osteoblast neoplasia driven by dysregulation of protein kinase A.Case report: two-step malignant transformation of a liposclerosing myxofibrous tumor of boneAge-dependent demise of GNAS-mutated skeletal stem cells and "normalization" of fibrous dysplasia of boneThe GNAS Locus: Quintessential Complex Gene Encoding Gsalpha, XLalphas, and other Imprinted TranscriptsIncreased IL-6-production by cells isolated from the fibrous bone dysplasia tissues in patients with McCune-Albright syndrome.Dental perspectives in fibrous dysplasia and McCune-Albright syndrome.Reproduction of human fibrous dysplasia of bone in immunocompromised mice by transplanted mosaics of normal and Gsalpha-mutated skeletal progenitor cells.Carney complex and McCune Albright syndrome: an overview of clinical manifestations and human molecular genetics.GNAS Mutations in Fibrous Dysplasia: A Comparative Study of Standard Sequencing and Locked Nucleic Acid PCR Sequencing on Decalcified and Nondecalcified Formalin-fixed Paraffin-embedded TissuesEndoscopic Decompression for Optic Neuropathy in McCune-Albright SyndromeExpression of an active Gαs mutant in skeletal stem cells is sufficient and necessary for fibrous dysplasia initiation and maintenance.Induced Gnas(R201H) expression from the endogenous Gnas locus causes fibrous dysplasia by up-regulating Wnt/β-catenin signaling.Bisphosphonate-induced zebra lines in fibrous dysplasia of bone: histo-radiographic correlation in a case of McCune-Albright syndrome.Individualized approach to the surgical management of fibrous dysplasia of the proximal femur.
P2860
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P2860
An activating Gs alpha mutation is present in fibrous dysplasia of bone in the McCune-Albright syndrome.
description
1994 nî lūn-bûn
@nan
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
1994年论文
@zh
1994年论文
@zh-cn
name
An activating Gs alpha mutatio ...... the McCune-Albright syndrome.
@en
type
label
An activating Gs alpha mutatio ...... the McCune-Albright syndrome.
@en
prefLabel
An activating Gs alpha mutatio ...... the McCune-Albright syndrome.
@en
P2093
P1476
An activating Gs alpha mutatio ...... n the McCune-Albright syndrome
@en
P2093
P304
P356
10.1210/JCEM.79.3.8077356
P407
P577
1994-09-01T00:00:00Z