Sequencing of a ‘mouse azoospermia’ gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest

Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency

(2018) Monica M. França et al.   European Journal of Medical Genetics

Testing for genetic contributions to infertility: potential clinical impact

(2018) Csilla Krausz et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Genetics of male infertility

(2018) Csilla Krausz et al.   Nature Reviews Urology

Pericentromere-Specific Cohesin Complex Prevents Meiotic Pericentric DNA Double-Strand Breaks and Lethal Crossovers

(2018) Mridula Nambiar et al.   MOLECULAR CELL

Impeding DNA Break Repair Enables Oocyte Quality Control

(2018) Huanyu Qiao et al.   MOLECULAR CELL

A STAG3 missense mutation in two sisters with primary ovarian insufficiency

(2017) Roberto Colombo et al.   European Journal of Obstetrics & Gynecology and Reproductive Biology

A SUMO-ubiquitin relay recruits proteasomes to chromosome axes to regulate meiotic recombination

(2017) H. B. D. Prasada Rao et al.   SCIENCE

Genetic Interactions Between the Meiosis-Specific Cohesin Components, STAG3, REC8, and RAD21L

(2016) Ayobami Ward et al.   G3-Genes Genomes Genetics

STAG3 truncating variant as the cause of primary ovarian insufficiency

(2015) Polona Le Quesne Stabej et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

X-Linked TEX11 Mutations, Meiotic Arrest, and Azoospermia in Infertile Men

(2015) Alexander N. Yatsenko et al.   NEW ENGLAND JOURNAL OF MEDICINE

STAG3 is a strong candidate gene for male infertility

(2014) Elena Llano et al.   HUMAN MOLECULAR GENETICS

Antagonistic roles of ubiquitin ligase HEI10 and SUMO ligase RNF212 regulate meiotic recombination

(2014) Huanyu Qiao et al.   NATURE GENETICS

Mutant Cohesin in Premature Ovarian Failure

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

Meiosis-Specific Cohesin Component, Stag3 Is Essential for Maintaining Centromere Chromatid Cohesion, and Required for DNA Repair and Synapsis between Homologous Chromosomes

(2014) Jessica Hopkins et al.   PLoS Genetics

A universal method for sequential immunofluorescent analysis of chromatin and chromatin-associated proteins on chromosome spreads

(2013) Christine van de Werken et al.   CHROMOSOME RESEARCH

RNF212 is a dosage-sensitive regulator of crossing-over during mammalian meiosis

(2013) April Reynolds et al.   NATURE GENETICS

Immunohistochemical Analysis of Histone H3 Modifications in Germ Cells during Mouse Spermatogenesis

(2011) Ning Song et al.   ACTA HISTOCHEMICA ET CYTOCHEMICA

Mouse models in male fertility research

(2010) Duangporn Jamsai et al.   ASIAN JOURNAL OF ANDROLOGY

Meiotic failure in male mice lacking an X-linked factor

(2008) F. Yang et al.   GENES & DEVELOPMENT

The mouse X chromosome is enriched for multicopy testis genes showing postmeiotic expression

(2008) Jacob L Mueller et al.   NATURE GENETICS