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Article

Description of a Brazilian patient bearing the R271W Pit-1 gene mutation.

Thyroid : official journal of the American Thyroid Association - 1 Apr 1998

Rodrigues Martineli A M, Braga M, De Lacerda L, Raskin S, Graf H

Abstract excerpt

The pituitary-specific transcription factor Pit-1/GHF-1 is responsible for pituitary development and expression of somatotrophs and lactotrophs as well as hormonal regulation of the prolactin (PRL) and thyrotropin (TSH) beta genes by thyrotropin-releasing hormone (TRH) and cyclic adenosine monophosphate (cAMP). Pit-1 gene mutations result in complete growth hormone (GH) and PRL deficiencies and variable degrees...

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Source

Identifiers

PMID: 9588494
DOI: 10.1089/thy.1998.8.299

Genes

PRL
TRH

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

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Description of a Brazilian patient bearing the R271W Pit-1 gene mutation.PMID 9588494Read ↗

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

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

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

Central hypothyroidism reveals compound heterozygous mutations in the Pit-1 gene.Semantic proximity Read ↗

Combined pituitary hormone deficiency and pituitary hypoplasia due to a mutation of the Pit-1 gene.Semantic proximity Read ↗

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

Long-term follow-up of combined pituitary hormone deficiency in two siblings with a Prophet of Pit-1 gene mutation.Semantic proximity Read ↗

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

Screening for PIT1 abnormality by PCR direct sequencing method.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 ↗

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