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Article

A homozygous NOBOX truncating variant causes defective transcriptional activation and leads to primary ovarian insufficiency.

Human reproduction (Oxford, England) - 1 Jan 2017

Li Lin, Wang Binbin, Zhang Wei, Chen Beili, Luo Minna, Wang Jing, Wang Xi, Cao Yunxia, Kee Kehkooi

Abstract excerpt

STUDY QUESTION: Does a novel homozygous NOBOX truncating variant, identified in whole exome sequencing (WES) of patients with primary ovarian insufficiency (POI), cause defective transcriptional activation of multiple oocyte-related genes? SUMMARY ANSWER: A novel homozygous truncating mutation of NOBOX was confirmed to exhibit a loss-of-function effect using well-defined molecular and functional analyses. WHAT IS...

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Source

Identifiers

PMID: 27836978
DOI: 10.1093/humrep/dew271

Genes

NOBOX
GDF9

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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