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Article

Glutamine repeat variants in human RUNX2 associated with decreased femoral neck BMD, broadband ultrasound attenuation and target gene transactivation.

PloS one - 1 Jan 2012

Morrison Nigel A, Stephens Alexandre A, Osato Motomi, Polly Patsie, Tan Timothy C, Yamashita Namiko, Doecke James D, Pasco Julie, Fozzard Nicolette, Jones Graeme, Ralston Stuart H, Sambrook Philip N, Prince Richard L, Nicholson Geoff C

Abstract excerpt

RUNX2 is an essential transcription factor required for skeletal development and cartilage formation. Haploinsufficiency of RUNX2 leads to cleidocranial displaysia (CCD) a skeletal disorder characterised by gross dysgenesis of bones particularly those derived from intramembranous bone formation. A notable feature of the RUNX2 protein is the polyglutamine and polyalanine (23Q/17A) domain coded by a repeat...

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Source

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Identifiers

PMID: 22912713
DOI: 10.1371/journal.pone.0042617
PMCID: PMC3418257

Genes

RUNX2

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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Glutamine repeat variants in human RUNX2 associated with decreased femoral neck BMD, broadband ultrasound attenuation and target gene transactivation.PMID 22912713Read ↗

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