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Article

Human INHBB Gene Variant (c.1079T>C:p.Met360Thr) Alters Testis Germ Cell Content, but Does Not Impact Fertility in Mice.

Endocrinology - 1 Mar 2022

Houston Brendan J, O'Connor Anne E, Wang Degang, Goodchild Georgia, Merriner D Jo, Luan Haitong, Conrad Don F, Nagirnaja Liina, Aston Kenneth I, Kliesch Sabine, Wyrwoll Margot J, Friedrich Corinna, Tüttelmann Frank, Harrison Craig, O'Bryan Moira K, Walton Kelly

Abstract excerpt

Testicular-derived inhibin B (α/β B dimers) acts in an endocrine manner to suppress pituitary production of follicle-stimulating hormone (FSH), by blocking the actions of activins (β A/B/β A/B dimers). Previously, we identified a homozygous genetic variant (c.1079T>C:p.Met360Thr) arising from uniparental disomy of chromosome 2 in the INHBB gene (β B-subunit of inhibin B and activin B) in a man suffering from...

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Identifiers

PMID: 35022746
DOI: 10.1210/endocr/bqab269
PMCID: PMC13016639

Genes

INHBB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Human INHBB Gene Variant (c.1079T>C:p.Met360Thr) Alters Testis Germ Cell Content, but Does Not Impact Fertility in Mice.PMID 35022746Read ↗

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