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Article

NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development.

PloS one - 1 Jan 2014

Aza-Carmona Miriam, Barca-Tierno Veronica, Hisado-Oliva Alfonso, Belinchón Alberta, Gorbenko-del Blanco Darya, Rodriguez Jose Ignacio, Benito-Sanz Sara, Campos-Barros Angel, Heath Karen E

Abstract excerpt

SHOX and SHOX2 transcription factors are highly homologous, with even identical homeodomains. Genetic alterations in SHOX result in two skeletal dysplasias; Léri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD), while no human genetic disease has been linked to date with SHOX2. SHOX2 is, though, involved in skeletal development, as shown by different knockout mice models. Due to the high...

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Source

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Identifiers

PMID: 24421874
DOI: 10.1371/journal.pone.0083104
PMCID: PMC3885427

Genes

SHOX2
SHOX
ACAN
NPPB
SOX5
SOX6
SOX9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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