Associated Papers
Primary ovarian insufficiency due to homozygous variants in the homeobox transcription factor NOBOX.
Zidoune H et al.
Molecular Biology Reports, 2025
Longer internal exons tend to have more tandem repeats and more frequently experience insertions and deletions.
Homma K et al.
Life Science Alliance, 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
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
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency.
França MM et al.
Plos One, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
A homozygous NOBOX truncating variant causes defective transcriptional activation and leads to primary ovarian insufficiency.
Li L et al.
Human Reproduction (oxford, England), 2017
Impaired protein stability and nuclear localization of NOBOX variants associated with premature ovarian insufficiency.
Ferrari I et al.
Human Molecular Genetics, 2016
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