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Article

NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights

3 Nov 2023

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 37921973
DOI: 10.1007/s10815-023-02981-y

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NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insightsPMID 37921973Read ↗

New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencingSemantic proximity Read ↗

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

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

Genes involved in human premature ovarian failureSemantic proximity Read ↗

Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort.Semantic proximity Read ↗

Genetic and phenotypic heterogeneity in ovarian failure: overview of selected candidate genes.Semantic proximity Read ↗

Premature ovarian failure and gene polymorphisms.Semantic proximity Read ↗

Epidemiology, Genetic Etiology, and Intervention of Premature Ovarian InsufficiencySemantic proximity Read ↗

Genetic aspects of premature ovarian failure: a literature reviewSemantic proximity Read ↗

Monogenic causes of Premature Ovarian Insufficiency are rare and mostly recessiveSemantic proximity Read ↗

Oocyte/zygote/embryo maturation arrest: a clinical study expanding the phenotype of NOBOX variants.Semantic proximity Read ↗

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

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