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Article

Deletion of OTX2 in neural ectoderm delays anterior pituitary development.

Human molecular genetics - 15 Feb 2015

Mortensen Amanda H, Schade Vanessa, Lamonerie Thomas, Camper Sally A

Abstract excerpt

OTX2 is a homeodomain transcription factor that is necessary for normal head development in mouse and man. Heterozygosity for loss-of-function alleles causes an incompletely penetrant, haploinsufficiency disorder. Affected individuals exhibit a spectrum of features that range from developmental defects in eye and/or pituitary development to acephaly. To investigate the mechanism underlying the pituitary defects,...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25315894
DOI: 10.1093/hmg/ddu506
PMCID: PMC4834879

Genes

OTX2

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Deletion of OTX2 in neural ectoderm delays anterior pituitary development.PMID 25315894Read ↗

A role of the LIM-homeobox gene Lhx2 in the regulation of pituitary development.Semantic proximity Read ↗

Mouse Otx2 functions in the formation and patterning of rostral head.Semantic proximity Read ↗

OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary.Semantic proximity Read ↗

Otx2 is required to respond to signals from anterior neural ridge for forebrain specification.Semantic proximity Read ↗

Pitx2is required at multiple stages of pituitary organogenesis: pituitary primordium formation and cell specificationSemantic proximity Read ↗

LHX2 is necessary for the maintenance of optic identity and for the progression of optic morphogenesis.Semantic proximity Read ↗

Cell autonomous and non-cell autonomous functions of Otx2 in patterning the rostral brain.Semantic proximity Read ↗

PITX genes are required for cell survival and Lhx3 activation.Semantic proximity Read ↗

The phenotypic spectrum associated with OTX2 mutations in humans.Semantic proximity Read ↗

Functional equivalency between Otx2 and Otx1 in development of the rostral head.Semantic proximity Read ↗

Congenital pituitary hypoplasia model demonstrates hypothalamic OTX2 regulation of pituitary progenitor cellsSemantic proximity Read ↗

Head formation: OTX2 regulates Dkk1 and Lhx1 activity in the anterior mesendoderm.Semantic proximity Read ↗

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