Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans

The second mutation of SYCE1 gene associated with autosomal recessive nonobstructive azoospermia

(2020) Mahdieh Pashaei et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Familial primary ovarian insufficiency associated with a SYCE1 point mutation: defective meiosis elucidated in humanized mice

(2020) Diego Hernández-López et al.   MOLECULAR HUMAN REPRODUCTION

Bi-allelic SHOC1 loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia

(2020) Chencheng Yao et al.   JOURNAL OF MEDICAL GENETICS

A TOP6BL mutation abolishes meiotic DNA double-strand break formation and causes human infertility

(2020) Yuying Jiao et al.   Science Bulletin

Meiotic chromosome synapsis depends on multivalent SYCE1-SIX6OS1 interactions that are disrupted in cases of human infertility

(2020) Fernando Sánchez-Sáez et al.   Science Advances

Npat-dependent programmed Sertoli cell proliferation is indispensable for testis cord development and germ cell mitotic arrest

(2019) Xiaohua Jiang et al.   FASEB JOURNAL

SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility

(2019) Samantha L.P. Schilit et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fertility and infertility: Definition and epidemiology

(2018) Mélodie Vander Borght et al.   CLINICAL BIOCHEMISTRY

Testing for genetic contributions to infertility: potential clinical impact

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

A homozygous FANCM frameshift pathogenic variant causes male infertility

(2018) Hao Yin et al.   GENETICS IN MEDICINE

Zipping and Unzipping: Protein Modifications Regulating Synaptonemal Complex Dynamics

(2018) Jinmin Gao et al.   TRENDS IN GENETICS

Essential Role of BRCA2 in Ovarian Development and Function

(2018) Ariella Weinberg-Shukron et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutations in Genes Coding for Synaptonemal Complex Proteins and Their Impact on Human Fertility

(2016) Adriana Geisinger et al.   CYTOGENETIC AND GENOME RESEARCH

C14ORF39/SIX6OS1 is a constituent of the synaptonemal complex and is essential for mouse fertility

(2016) Laura Gómez-H et al.   Nature Communications

Genome-Wide Association Study of Meiotic Recombination Phenotypes

(2016) Ferdouse Begum et al.   G3-Genes Genomes Genetics

TEX11 is mutated in infertile men with azoospermia and regulates genome-wide recombination rates in mouse

(2015) F. Yang et al.   EMBO Molecular Medicine

Genetics of primary ovarian insufficiency: new developments and opportunities

(2015) Yingying Qin et al.   HUMAN REPRODUCTION UPDATE

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

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

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

The Meiotic Checkpoint Network: Step-by-Step through Meiotic Prophase

(2014) V. V. Subramanian et al.   Cold Spring Harbor Perspectives in Biology

Structural Insight into the Central Element Assembly of the Synaptonemal Complex

(2014) Jing Lu et al.   Scientific Reports

Common and low-frequency variants associated with genome-wide recombination rate

(2013) Augustine Kong et al.   NATURE GENETICS

SpermatogenesisOnline 1.0: a resource for spermatogenesis based on manual literature curation and genome-wide data mining

(2012) Yuanwei Zhang et al.   NUCLEIC ACIDS RESEARCH

A Novel Mouse Synaptonemal Complex Protein Is Essential for Loading of Central Element Proteins, Recombination, and Fertility

(2011) Sabine Schramm et al.   PLoS Genetics

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

International Committee for Monitoring Assisted Reproductive Technology (ICMART) and the World Health Organization (WHO) revised glossary of ART terminology, 2009∗

(2009) F. Zegers-Hochschild et al.   FERTILITY AND STERILITY

Mutation of the Mouse Syce1 Gene Disrupts Synapsis and Suggests a Link between Synaptonemal Complex Structural Components and DNA Repair

(2009) Ewelina Bolcun-Filas et al.   PLoS Genetics

Mutations of the SYCP3 Gene in Women with Recurrent Pregnancy Loss

(2008) Hasbaira Bolor et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cryopreservation has no effect on meiotic recombination and synapsis in testicular tissues

(2008) Jianhua Li et al.   FERTILITY AND STERILITY

Progression of meiotic recombination requires structural maturation of the central element of the synaptonemal complex

(2008) G. Hamer et al.   JOURNAL OF CELL SCIENCE

The biology of infertility: research advances and clinical challenges

(2008) Martin M Matzuk et al.   NATURE MEDICINE