Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure

A de novo paradigm for male infertility

(2022) M. S. Oud et al.   Nature Communications

First evidence of involvement of TBC1D25 in causing human male infertility

(2021) Shoaib Nawaz et al.   European Journal of Medical Genetics

Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure

(2021) Jimmaline J. Hardy et al.   HUMAN GENETICS

Pathogenic variations in Germ Cell Nuclear Acidic Peptidase (GCNA) are associated with human male infertility

(2021) Maram Arafat et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Variant PNLDC1, Defective piRNA Processing, and Azoospermia

(2021) Liina Nagirnaja et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genetic Factors of Non-Obstructive Azoospermia: Consequences on Patients’ and Offspring Health

(2021) Csilla Krausz et al.   Journal of Clinical Medicine

Msl3 promotes germline stem cell differentiation in female Drosophila

(2021) Alicia McCarthy et al.   DEVELOPMENT

Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes

(2021) M J Wyrwoll et al.   HUMAN REPRODUCTION

A contiguous microdeletion syndrome at Xp23.13 with non-obstructive azoospermia and congenital cataracts

(2020) Aubrey Milunsky et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Dynamic and regulated TAF gene expression during mouse embryonic germ cell development

(2020) Megan A. Gura et al.   PLoS Genetics

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor

(2020) Raman Kumar et al.   Frontiers in Molecular Neuroscience

Fam70A binds Wnt5a to regulate meiosis and quality of mouse oocytes

(2020) Na‐Na Zhang et al.   CELL PROLIFERATION

Human X chromosome exome sequencing identifies BCORL1 as contributor to spermatogenesis

(2020) Chuncheng Lu et al.   JOURNAL OF MEDICAL GENETICS

A genomics approach to male infertility

(2020) Naif Alhathal et al.   GENETICS IN MEDICINE

Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men

(2020) Csilla Krausz et al.   GENETICS IN MEDICINE

Deletion of FUNDC2 and CMC4 on Chromosome Xq28 Is Sufficient to Cause Hypergonadotropic Hypogonadism in Men

(2020) Xinxian Deng et al.   Frontiers in Genetics

Function and molecular mechanisms of APE2 in genome and epigenome integrity

(2020) Yunfeng Lin et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

LncNONO-AS regulates AR expression by mediating NONO

(2019) Zhongquan Zhao et al.   THERIOGENOLOGY

The X chromosome and male infertility

(2019) Matthias Vockel et al.   HUMAN GENETICS

Novel interstitial deletion in Xp22.3 in a typical X-linked recessive family with Kallmann syndrome

(2018) Y. Niu et al.   ANDROLOGIA

CRL4B RBBP7 targets HUWE1 for ubiquitination and proteasomal degradation

(2018) Fei Liu et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia

(2018) Csilla Krausz et al.   GENETICS IN MEDICINE

Genetics of male infertility

(2018) Csilla Krausz et al.   Nature Reviews Urology

ZNF185-derived peptide induces fertility suppression in mice

(2018) Shutong Fan et al.   JOURNAL OF PEPTIDE SCIENCE

STRING v11: protein–protein association networks with increased coverage, supporting functional discovery in genome-wide experimental datasets

(2018) Damian Szklarczyk et al.   NUCLEIC ACIDS RESEARCH

Expression pattern of Zinc finger protein 185 in mouse testis and its role in regulation of testosterone secretion

(2017) Xinguo You et al.   Molecular Medicine Reports

Gene knockout of Zmym3 in mice arrests spermatogenesis at meiotic metaphase with defects in spindle assembly checkpoint

(2017) Xiangjing Hu et al.   Cell Death & Disease

The Germline Linker Histone dBigH1 and the Translational Regulator Bam Form a Repressor Loop Essential for Male Germ Stem Cell Differentiation

(2017) Albert Carbonell et al.   Cell Reports

Novel concepts in the aetiology of male reproductive impairment

(2017) Herman Tournaye et al.   Lancet Diabetes & Endocrinology

Kif4 Is Essential for Mouse Oocyte Meiosis

(2017) Nicole J. Camlin et al.   PLoS One

Multiplex shRNA Screening of Germ Cell Development by in Vivo Transfection of Mouse Testis

(2016) Nicholas R. Y. Ho et al.   G3-Genes Genomes Genetics

SCML2 Establishes the Male Germline Epigenome through Regulation of Histone H2A Ubiquitination

(2015) Kazuteru Hasegawa et al.   DEVELOPMENTAL CELL

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

FANCB is essential in the male germline and regulates H3K9 methylation on the sex chromosomes during meiosis

(2015) Yasuko Kato et al.   HUMAN MOLECULAR GENETICS

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

The Embryonic Linker Histone H1 Variant of Drosophila, dBigH1, Regulates Zygotic Genome Activation

(2013) Salvador Pérez-Montero et al.   DEVELOPMENTAL CELL

Increased cancer risk and azoospermia

(2013) Michael L. Eisenberg et al.   FERTILITY AND STERILITY

A Missense Mutation inRev7Disrupts Formation of Polζ, Impairing Mouse Development and Repair of Genotoxic Agent-induced DNA Lesions

(2013) Maryam Khalaj et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Independent specialization of the human and mouse X chromosomes for the male germ line

(2013) Jacob L Mueller et al.   NATURE GENETICS

Evidence for a role of matrix metalloproteinases and their inhibitors in primordial germ cell migration

(2013) A. Díez-Torre et al.   Andrology

R-loops cause replication impairment and genome instability during meiosis

(2012) Maikel Castellano-Pozo et al.   EMBO REPORTS

The endonuclease activity of Mili fuels piRNA amplification that silences LINE1 elements

(2011) Serena De Fazio et al.   NATURE

Regucalcin is broadly expressed in male reproductive tissues and is a new androgen-target gene in mammalian testis

(2011) S S Laurentino et al.   REPRODUCTION

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

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

(2008) Jacob L Mueller et al.   NATURE GENETICS

The MSL3 chromodomain directs a key targeting step for dosage compensation of the Drosophila melanogaster X chromosome

(2008) Tuba H Sural et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY