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

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

26 Nov 2015

Abstract excerpt

POU1F1, a pituitary-specific POU-homeo domain transcription factor, plays an essential role in the specification of the somatotroph, lactotroph and thyrotroph lineages and in the activation of GH1, PRL and TSHβ transcription. Individuals with mutations in POU1F1 present with combined deficiency of GH, PRL and TSH. Here, we identified a heterozygous missense mutation with evidence of pathogenicity, at the POU1F1...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Syndromes and Imprinting
Share to Growth Hormone and Insulin-like Growth Factors
Share to RNA modifications and cancer

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

Source

Identifiers

PMID: 26612202
DOI: 10.1093/hmg/ddv486

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 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

Functional characterization of a human <i>POU1F1</i> mutation associated with isolated growth hormone deficiency: a novel etiology for IGHDPMID 26612202Read ↗

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 ↗

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

High-throughput splicing assays identify missense and silent splice-disruptive<i>POU1F1</i>variants underlying pituitary hormone deficiencySemantic proximity Read ↗

Novel mutations within the POU1F1 gene associated with variable 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 ↗

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency.Semantic proximity Read ↗

Functional relationship between LHX4 and POU1F1 in light of the LHX4 mutation identified in patients with pituitary defects.Semantic proximity Read ↗

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

A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency.Semantic proximity Read ↗

Differential splicing of the GHF1 primary transcript gives rise to two functionally distinct homeodomain proteins.Semantic proximity Read ↗

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