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Article

Impaired protein stability and nuclear localization of NOBOX variants associated with premature ovarian insufficiency.

Human molecular genetics - 1 Dec 2016

Ferrari Ilaria, Bouilly Justine, Beau Isabelle, Guizzardi Fabiana, Ferlin Alberto, Pollazzon Marzia, Salerno Mariacarolina, Binart Nadine, Persani Luca, Rossetti Raffaella

Abstract excerpt

Premature ovarian insufficiency (POI) is a clinical syndrome defined by a loss of ovarian activity before the age of 40. Its pathogenesis is still largely unknown, but increasing evidences support a genetic basis in most cases. Among these, heterozygous mutations in NOBOX, a homeobox gene encoding a transcription factor expressed specifically by oocyte and granulosa cells within the ovary, have been reported in...

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Source

Identifiers

PMID: 27798098
DOI: 10.1093/hmg/ddw342

Genes

NOBOX
FOXL2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Impaired protein stability and nuclear localization of NOBOX variants associated with premature ovarian insufficiency.PMID 27798098Read ↗

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