Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency.

The Journal of clinical endocrinology and metabolism - 1 Nov 2008

Diaczok Daniel, Romero Christopher, Zunich Janice, Marshall Ian, Radovick Sally

Abstract excerpt

CONTEXT: Combined pituitary hormone deficiency (CPHD) is characterized by deficiencies in more than one anterior pituitary hormone. Mutations in developmental factors responsible for pituitary cell specification and gene expression have been found in CPHD patients. OTX2, a bicoid class homeodomain protein, is necessary for both forebrain development and transactivation of the HESX1 promoter, but as of yet, has...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Electrophoretic Mobility Shift Assay
Share to Feeding and Eating Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Dominant

Share to Hyperbilirubinemia

Share to Hypoglycemia

Share to Hypopituitarism

Share to Oligodeoxyribonucleotides

Share to Otx Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 18728160
DOI: 10.1210/jc.2008-1189
PMCID: PMC2582563

Genes

OTX2
HESX1
LHX3
LHX4
PITX2
PROP1
SIX6

Variants

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency.PMID 18728160Read ↗

A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerveSemantic 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 ↗

Genetic disorders of the pituitary.Semantic proximity Read ↗

OTX2 Syndromes.Semantic proximity Read ↗

Pituitary Hypoplasia.Semantic proximity Read ↗

The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism.Semantic proximity Read ↗

Hypothalamic and pituitary development: novel insights into the aetiology.Semantic proximity Read ↗

Genetic Screening of Combined Pituitary Hormone Deficiency: Experience in 195 PatientsSemantic proximity Read ↗

Heritable disorders of pituitary development.Semantic proximity Read ↗

Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort.Semantic proximity Read ↗

Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency.Semantic proximity Read ↗

Identification of Novel PROP1 and POU1F1 Mutations in Patients with Combined Pituitary Hormone Deficiency.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.