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

Identification and functional analysis of the novel S179R POU1F1 mutation associated with combined pituitary hormone deficiency.

The Journal of clinical endocrinology and metabolism - 1 Dec 2006

Miyata Ichiro, Vallette-Kasic Sophie, Saveanu Alexandru, Takeuchi Mizuho, Yoshikawa Hideki, Tajima Asako, Tojo Katsuyoshi, Reynaud Rachel, Gueydan Magali, Enjalbert Alain, Tajima Naoko, Eto Yoshikatsu, Brue Thierry

Abstract excerpt

CONTEXT: The pituitary-specific transcription factor 1 plays a key role in the development and differentiation of three pituitary cell types: somatotrophs, lactotrophs, and thyrotrophs. Several mutations of the human gene (called POU1F1) have been shown to be responsible for a phenotype of combined pituitary hormone deficiency involving GH, prolactin (PRL), and TSH. OBJECTIVE: We have identified a novel...

Read the complete abstract on PubMed

Topics

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

Share to Chlorocebus aethiops
Share to COS Cells

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

Share to Hypopituitarism

Share to Mutant Proteins

Share to Pituitary Hormones

Share to Protein Conformation

Share to Transcription Factor Pit-1

Share to Transfection

Source

Identifiers

PMID: 16968807
DOI: 10.1210/jc.2005-2289

Genes

PRL

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification and functional analysis of the novel S179R POU1F1 mutation associated with combined pituitary hormone deficiency.PMID 16968807Read ↗

Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.Semantic proximity Read ↗

Combined pituitary hormone deficiency due to the F135C human Pit-1 (pituitary-specific factor 1) gene mutation: functional and structural correlates.Semantic proximity Read ↗

A novel POU1F1 mutation (p.Thr168IlefsX7) associated with an early and severe form of combined pituitary hormone deficiency: functional analysis and follow-up from infancy to adulthood.Semantic proximity Read ↗

Functional characterization of a human <i>POU1F1</i> mutation associated with isolated growth hormone deficiency: a novel etiology for IGHDSemantic proximity Read ↗

Three novel mutations in POU1F1 in Israeli patients with combined pituitary hormone deficiency.Semantic proximity Read ↗

Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency.Semantic proximity Read ↗

Combined pituitary hormone deficiency caused by compound heterozygosity for two novel mutations in the POU domain of the Pit1/POU1F1 gene.Semantic proximity Read ↗

Identification of a novel mutation in the exon 2 splice donor site of the POU1F1/PIT-1 gene in Japanese identical twins with mild combined pituitary hormone deficiency.Semantic proximity Read ↗

A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency.Semantic proximity Read ↗

A mutation of the β-domain in POU1F1 causes pituitary deficiency due to dominant PIT-1β expression.Semantic proximity Read ↗

New N-terminal located mutation (Q4ter) within the POU1F1-gene (PIT-1) causes recessive combined pituitary hormone deficiency and variable phenotype.Semantic proximity Read ↗

Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia.Semantic proximity Read ↗

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