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 mutation in PIT-1: phenotypic variability in familial combined pituitary hormone deficiencies.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Mar 2002

Gat-Yablonski G, Lazar L, Pertzelan A, Phillip M

Abstract excerpt

Mutations in PIT-1 have been described in several cases of familial combined pituitary hormone deficiencies. This study describes a novel PIT-1 mutation that was found in two siblings of a highly consanguineous family of Israeli-Arab origin. The missense mutation (G688A) causes a lysine (K) to glutamic acid (E) substitution at codon 230. This codon resides in the first helix of the POU-homeodomain, which is...

Read the complete abstract on PubMed

Topics

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

Share to DNA
Share to DNA-Binding Proteins
Share to Exons

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

Share to Magnetic Resonance Imaging

Share to Pituitary Hormones

Share to Reverse Transcriptase Polymerase Chain Reaction

Share to Transcription Factor Pit-1

Share to Transcription Factors

Source

Identifiers

PMID: 11924936
DOI: 10.1515/jpem.2002.15.3.325

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

A novel mutation in PIT-1: phenotypic variability in familial combined pituitary hormone deficiencies.PMID 11924936Read ↗

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

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

Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency.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 ↗

Clinical and molecular characterization of a Brazilian patient with Pit-1 deficiency.Semantic proximity Read ↗

Familial combined pituitary hormone deficiency due to a novel mutation R99Q in the hot spot region of Prophet of Pit-1 presenting as constitutional growth delay.Semantic proximity Read ↗

Combined pituitary hormone deficiency: role of Pit-1 and Prop-1.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 ↗

Combined pituitary hormone deficiency in Australian children: clinical and genetic correlates.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 ↗

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

POU1F1 mutations in combined pituitary hormone deficiency: differing spectrum of mutations in a Western-Indian cohort and systematic analysis of world literature.Semantic proximity Read ↗

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