Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes

A Novel Phenotype Combining Primary Ovarian Insufficiency Growth Retardation and Pilomatricomas With MCM8 Mutation

(2020) Abdelkader Heddar et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia

(2020) Sylvie Jaillard et al.   MOLECULAR HUMAN REPRODUCTION

A new role for the synaptonemal complex in the regulation of meiotic recombination

(2020) Nancy M. Hollingsworth   GENES & DEVELOPMENT

Novel STAG3 mutations in a Caucasian family with primary ovarian insufficiency

(2019) Abdelkader Heddar et al.   MOLECULAR GENETICS AND GENOMICS

Control of homologous recombination by the HROB–MCM8–MCM9 pathway

(2019) Nicole Hustedt et al.   GENES & DEVELOPMENT

Identification of variants in pleiotropic genes causing “isolated” premature ovarian insufficiency: implications for medical practice

(2018) Elena J. Tucker et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Functional study of a novel missense single-nucleotide variant of NUP107 in two daughters of Mexican origin with premature ovarian insufficiency

(2018) Yu Ren et al.   Molecular Genetics & Genomic Medicine

Age-Related Loss of Cohesion: Causes and Effects

(2017) Jin-Mei Cheng et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome

(2017) Rasim Ozgur Rosti et al.   JOURNAL OF MEDICAL GENETICS

Roles for mismatch repair family proteins in promoting meiotic crossing over

(2016) Carol M. Manhart et al.   DNA REPAIR

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

(2016) Elena J. Tucker et al.   ENDOCRINE REVIEWS

ESHRE Guideline: management of women with premature ovarian insufficiency

(2016)   HUMAN REPRODUCTION

Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency

(2016) Justine Bouilly et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The rules and impact of nonsense-mediated mRNA decay in human cancers

(2016) Rik G H Lindeboom et al.   NATURE GENETICS

Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome

(2015) Noriko Miyake et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Effect of primary ovarian insufficiency and early natural menopause on mortality: a meta-analysis

(2015) X-Y. Tao et al.   CLIMACTERIC

Genetics of primary ovarian insufficiency: new developments and opportunities

(2015) Yingying Qin et al.   HUMAN REPRODUCTION UPDATE

A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis

(2015) Ariella Weinberg-Shukron et al.   JOURNAL OF CLINICAL INVESTIGATION

Premature Ovarian Failure Caused by a Heterozygous Missense Mutation in POF1B and a Reciprocal Translocation 46,X,t(X;3)(q21.1;q21.3)

(2015) Susanne Ledig et al.   Sexual Development

Mutated MCM9 is associated with predisposition to hereditary mixed polyposis and colorectal cancer in addition to primary ovarian failure

(2015) Yael Goldberg et al.   Cancer Genetics

Cpipe: a shared variant detection pipeline designed for diagnostic settings

(2015) Simon P. Sadedin et al.   Genome Medicine

MCM9 Mutations Are Associated with Ovarian Failure, Short Stature, and Chromosomal Instability

(2014) Michelle A. Wood-Trageser et al.   AMERICAN JOURNAL OF HUMAN GENETICS

STAG3-mediated stabilization of REC8 cohesin complexes promotes chromosome synapsis during meiosis

(2014) T. Fukuda et al.   EMBO JOURNAL

Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability

(2014) Saleh AlAsiri et al.   JOURNAL OF CLINICAL INVESTIGATION

Mutations in HFM1 in Recessive Primary Ovarian Insufficiency

(2014) Jian Wang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutant Cohesin in Premature Ovarian Failure

(2014) Sandrine Caburet et al.   NEW ENGLAND JOURNAL OF MEDICINE

Human DNA helicase HELQ participates in DNA interstrand crosslink tolerance with ATR and RAD51 paralogs

(2013) Kei-ichi Takata et al.   Nature Communications

Mouse HFM1/Mer3 Is Required for Crossover Formation and Complete Synapsis of Homologous Chromosomes during Meiosis

(2013) Michel F. Guiraldelli et al.   PLoS Genetics

FANCM Limits Meiotic Crossovers

(2012) W. Crismani et al.   SCIENCE

The POF1B candidate gene for premature ovarian failure regulates epithelial polarity

(2011) V. Padovano et al.   JOURNAL OF CELL SCIENCE