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Article

Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism.

Disease models & mechanisms - 1 Jan 2000

Sajedi Ezat, Gaston-Massuet Carles, Signore Massimo, Andoniadou Cynthia L, Kelberman Daniel, Castro Sandra, Etchevers Heather C, Gerrelli Dianne, Dattani Mehul T, Martinez-Barbera Juan Pedro

Abstract excerpt

A homozygous substitution of the highly conserved isoleucine at position 26 by threonine (I26T) in the transcriptional repressor HESX1 has been associated with anterior pituitary hypoplasia in a human patient, with no forebrain or eye defects. Two individuals carrying a homozygous substitution of the conserved arginine at position 160 by cysteine (R160C) manifest septo-optic dysplasia (SOD), a condition...

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Source

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Identifiers

PMID: 19093031
DOI: 10.1242/dmm.000711
PMCID: PMC2590837

Genes

HESX1

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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