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Article

New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decrease KIT-L expression.

The Journal of clinical endocrinology and metabolism - 1 Mar 2015

Bouilly Justine, Roucher-Boulez Florence, Gompel Anne, Bry-Gauillard Hélène, Azibi Kemal, Beldjord Cherif, Dodé Catherine, Bouligand Jérôme, Mantel Anne Guiochon, Hécart Annie-Claude, Delemer Brigitte, Young Jacques, Binart Nadine

Abstract excerpt

CONTEXT: Primary ovarian insufficiency (POI) is a major cause of anovulation and infertility in women. This disease affects 1% of women before 40 years, and several genetic causes have been reported. OBJECTIVE: The aim of the study was to evaluate the prevalence of NOBOX mutations in a new large cohort of women with POI and to characterize these variants and identify a NOBOX novel target gene. PATIENTS AND...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25514101
DOI: 10.1210/jc.2014-2761

Genes

NOBOX
KIT
GDF9

Variants

Provenance

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Related research

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New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decrease KIT-L expression.PMID 25514101Read ↗

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NOBOX homeobox mutation causes premature ovarian failure.Semantic proximity Read ↗

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Next Generation Sequencing Should Be Proposed to Every Woman With “Idiopathic” Primary Ovarian InsufficiencySemantic proximity Read ↗

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