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Article

Transcriptional and translational regulation of the Leri-Weill and Turner syndrome homeobox gene SHOX.

The Journal of biological chemistry - 28 Nov 2003

Blaschke Rudiger J, Töpfer Christine, Marchini Antonio, Steinbeisser Herbert, Janssen Johannes W G, Rappold Gudrun A

Abstract excerpt

Regulation of gene expression is particularly important for gene dosage-dependent diseases and the phenomenon of clinical heterogeneity frequently associated with these phenotypes. We here report on the combined transcriptional and translational regulatory mechanisms controlling the expression of the Léri-Weill and Turner syndrome gene SHOX. We define an alternative promotor within exon 2 of the SHOX gene by...

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Identifiers

PMID: 12960152
DOI: 10.1074/jbc.M306685200

Genes

SHOX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Transcriptional and translational regulation of the Leri-Weill and Turner syndrome homeobox gene SHOX.PMID 12960152Read ↗

Variants in the 5'UTR reduce SHOX expression and contribute to SHOX haploinsufficiency.Semantic proximity Read ↗

Leri–Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site VariantSemantic proximity Read ↗

Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis.Semantic proximity Read ↗

Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients.Semantic proximity Read ↗

The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome.Semantic proximity Read ↗

A novel intronic mutation in SHOX causes short stature by disrupting a splice acceptor site: direct demonstration of aberrant splicing by expression of a minigene in HEK-293T cells.Semantic proximity Read ↗

The short stature homeodomain protein SHOX induces cellular growth arrest and apoptosis and is expressed in human growth plate chondrocytes.Semantic proximity Read ↗

The translation initiation factor eIF4E regulates the sex-specific expression of the master switch gene Sxl in Drosophila melanogaster.Semantic proximity Read ↗

Pervasive translation of the downstream ORF from bicistronic mRNAs by human cells: impact of the upstream ORF codon usage and splicingSemantic proximity Read ↗

Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature.Semantic proximity Read ↗

Homozygosity for a novel deletion downstream of the SHOX gene provides evidence for an additional long range regulatory region with a mild phenotypic effect.Semantic proximity Read ↗

A common translational control mechanism functions in axial patterning and neuroendocrine signaling in Drosophila.Semantic proximity Read ↗

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