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Article

Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia.

The Journal of clinical endocrinology and metabolism - 1 Oct 2003

Cohen Ronald N, Cohen Laurie E, Botero Diego, Yu Christine, Sagar Angela, Jurkiewicz Magdalena, Radovick Sally

Abstract excerpt

HESX1 is a paired-like homeodomain transcription factor that functions as a repressor of PROP1-mediated gene stimulation. Mutations in HESX1 have been implicated in cases of septooptic dysplasia and congenital hypopituitarism. All mutations in HESX1 identified to date have resulted in impaired DNA binding and defective HESX1 action. We have identified a novel HESX1 mutation in genomic nucleotide position 1684...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14557462
DOI: 10.1210/jc.2002-021868

Genes

HESX1
PROP1

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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