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Article

A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction.

The Journal of clinical investigation - 1 Oct 2003

Carvalho Luciani R, Woods Kathryn S, Mendonca Berenice B, Marcal Nathalie, Zamparini Andrea L, Stifani Stefano, Brickman Joshua M, Arnhold Ivo J P, Dattani Mehul T

Abstract excerpt

The paired-like homeobox gene expressed in embryonic stem cells Hesx1/HESX1 encodes a developmental repressor and is expressed in early development in a region fated to form the forebrain, with subsequent localization to Rathke's pouch, the primordium of the anterior pituitary gland. Mutations within the gene have been associated with septo-optic dysplasia, a constellation of phenotypes including eye, forebrain,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 14561704
DOI: 10.1172/JCI18589
PMCID: PMC213489

Genes

HESX1
TLE1

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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A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction.PMID 14561704Read ↗

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