Varaico: Literature-Extracted Genetic Variants

Gene:NOBOX
Variant:p.R117W
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NOBOX

NM_001080413.3:p.R117W

Associated Papers

Primary ovarian insufficiency due to homozygous variants in the homeobox transcription factor NOBOX.

Zidoune H et al.

Molecular Biology Reports, 2025

Reclassifying NOBOX variants in primary ovarian insufficiency cases with a corrected gene model and a novel quantitative framework.

Veitia RA et al.

Human Reproduction (oxford, England), 2025

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

Van Der Kelen A et al.

Journal of Assisted Reproduction and Genetics, 2025

Identification of novel variants underlying non-syndromic primary ovarian insufficiency using a targeted NGS gene panel.

Veneziano C et al.

Frontiers in Endocrinology, 2025

41458559 (PubMed )
Supplement: Table4.xlsx › sheet1

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

Jordan P et al.

Journal of Assisted Reproduction and Genetics, 2024

Sumoylation regulates functional properties of the oocyte transcription factors SOHLH1 and NOBOX.

Patton BK et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2023

Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea.

Sassi A et al.

Molecular Genetics & Genomic Medicine, 2021

Next Generation Sequencing Should Be Proposed to Every Woman With "Idiopathic" Primary Ovarian Insufficiency.

Eskenazi S et al.

Journal of the Endocrine Society, 2021

Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice.

Jiao SY et al.

Human Reproduction Update, 2021

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure.

França MM et al.

Endocrine, 2017

New MCM8 mutation associated with premature ovarian insufficiency and chromosomal instability in a highly consanguineous Tunisian family.

Bouali N et al.

Fertility and Sterility, 2017

Premature Ovarian Insufficiency: New Perspectives on Genetic Cause and Phenotypic Spectrum.

Tucker EJ et al.

Endocrine Reviews, 2016

NOBOX is a strong autosomal candidate gene in Tunisian patients with primary ovarian insufficiency.

Bouali N et al.

Clinical Genetics, 2016

Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing.

Laissue P

Molecular and Cellular Endocrinology, 2015

Genetics of premature ovarian failure.

Bilgin EM et al.

Current Opinion in Obstetrics & Gynecology, 2015

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

Bouilly J et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

Ethnic specificity of variants of the ESR1, HK3, BRSK1 genes and the 8q22.3 locus: no association with premature ovarian failure (POF) in Serbian women.

Qin Y et al.

Maturitas, 2014

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

Bouilly J et al.

Human Mutation, 2011

Genetics of Female Infertility: Molecular Study of Newborn Ovary Homeobox Gene in Poor Ovarian Responders.

Batiha O et al.

Journal of Human Reproductive Sciences, 0

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