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Article

Induced GnasR201H expression from the endogenous Gnas locus causes fibrous dysplasia by up-regulating Wnt/β-catenin signaling.

Proceedings of the National Academy of Sciences of the United States of America - 16 Jan 2018

Khan Sanjoy Kumar, Yadav Prem Swaroop, Elliott Gene, Hu Dorothy Zhang, Xu Ruoshi, Yang Yingzi

Abstract excerpt

Fibrous dysplasia (FD; Online Mendelian Inheritance in Man no. 174800) is a crippling skeletal disease caused by activating mutations of the GNAS gene, which encodes the stimulatory G protein Gαs FD can lead to severe adverse conditions such as bone deformity, fracture, and severe pain, leading to functional impairment and wheelchair confinement. So far there is no cure, as the underlying molecular and cellular...

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Source

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Identifiers

PMID: 29158412
DOI: 10.1073/pnas.1714313114
PMCID: PMC5776978

Genes

GNAS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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