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Article

Pituitary dwarfism in the R271W Pit-1 gene mutation.

European journal of pediatrics - 1 Nov 1997

Aarskog D, Eiken H G, Bjerknes R, Myking O L

Abstract excerpt

UNLABELLED: The Pit-1 gene encodes the POU-domain transcription factor Pit-1 which is important for the differentiation of the anterior pituitary and regulation of the PRL, GH and TSH genes. As a member of the POU domain transcription factors, Pit-1 contains a DNA-binding region, consisting of a POU-specific domain and a POU homeodomain. Mutation of the Pit-1 gene causes hypoplasia of the pituitary gland and...

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Source

Identifiers

PMID: 9392392
DOI: 10.1007/s004310050722

Genes

PRL
TRH
GHRH

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

Pituitary dwarfism in the R271W Pit-1 gene mutation.PMID 9392392Read ↗

Description of a Brazilian patient bearing the R271W Pit-1 gene mutation.Semantic proximity Read ↗

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

A new C-terminal located mutation (V272ter) in the PIT-1 gene manifesting with severe congenital hypothyroidism. Possible functionality of the PIT-1 C-terminus.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 ↗

A mutation in the POU-homeodomain of Pit-1 responsible for 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 ↗

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 ↗

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

Role of Pit-1 in the gene expression of growth hormone, prolactin, and thyrotropin.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 ↗

PIT1 abnormality.Semantic proximity Read ↗

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

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