Associated Papers
Functional Properties of POU1F1 Mutants in the Transcriptional Regulation of the Thyrotropin β Gene Compared with the Prolactin Gene.
Kawauchi Y et al.
International Journal of Molecular Sciences, 2025
POU1F1/Pou1f1 c.143-83A > G Variant Disrupts the Branch Site in Pre-mRNA and Leads to Dwarfism.
Akiba K et al.
Endocrinology, 2022
POU1F1 mutations in combined pituitary hormone deficiency: differing spectrum of mutations in a Western-Indian cohort and systematic analysis of world literature.
Jadhav S et al.
Pituitary, 2021
High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency.
Gergics P et al.
American Journal of Human Genetics, 2021
A mutation of the β-domain in POU1F1 causes pituitary deficiency due to dominant PIT-1β expression.
Suzuki S et al.
European Journal of Endocrinology, 2021
Pituitary Transcription Factor Mutations Leading to Hypopituitarism.
Gergics P
Experientia Supplementum (2012), 2019
Genetic causes of isolated and combined pituitary hormone deficiency.
Giordano M
Best Practice & Research. Clinical Endocrinology & Metabolism, 2016
Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD.
Sobrier ML et al.
Human Molecular Genetics, 2016
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