The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans

A de novo paradigm for male infertility

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

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

(2022) Antoni Riera-Escamilla et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic Architecture of Azoospermia—Time to Advance the Standard of Care

(2022) Margot J. Wyrwoll et al.   EUROPEAN UROLOGY

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

Production of functional oocytes requires maternally expressed PIWI genes and piRNAs in golden hamsters

(2021) Hidetoshi Hasuwa et al.   NATURE CELL BIOLOGY

Variant PNLDC1, Defective piRNA Processing, and Azoospermia

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

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

SciPy 1.0: fundamental algorithms for scientific computing in Python

(2020) Pauli Virtanen et al.   NATURE METHODS

Evolutionarily conserved pachytene piRNA loci are highly divergent among modern humans

(2020) Deniz M. Özata et al.   Nature Ecology & Evolution

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility

(2020) Margot J. Wyrwoll et al.   AMERICAN JOURNAL OF HUMAN GENETICS

MIWI prevents aneuploidy during meiosis by cleaving excess satellite RNA

(2020) Chia‐Ling Hsieh et al.   EMBO JOURNAL

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

(2020) Csilla Krausz et al.   GENETICS IN MEDICINE

Disease gene discovery in male infertility: past, present and future

(2020) M. J. Xavier et al.   HUMAN GENETICS

SPOCD1 is an essential executor of piRNA-directed de novo DNA methylation

(2020) Ansgar Zoch et al.   NATURE

Somalier: rapid relatedness estimation for cancer and germline studies using efficient genome sketches

(2020) Brent S. Pedersen et al.   Genome Medicine

Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia

(2020) Albert Salas-Huetos et al.   HUMAN GENETICS

A Translation-Activating Function of MIWI/piRNA during Mouse Spermiogenesis

(2019) Peng Dai et al.   CELL

Linkage analysis and whole exome sequencing identify a novel candidate gene in a Dutch multiple sclerosis family

(2018) Julia Y Mescheriakova et al.   Multiple Sclerosis Journal

Linkage analysis and whole exome sequencing identify a novel candidate gene in a Dutch multiple sclerosis family

(2018) Julia Y Mescheriakova et al.   Multiple Sclerosis Journal

DASHR 2.0: integrated database of human small non-coding RNA genes and mature products

(2018) Pavel P Kuksa et al.   BIOINFORMATICS

Single-Cell RNA Sequencing Analysis Reveals Sequential Cell Fate Transition during Human Spermatogenesis

(2018) Mei Wang et al.   Cell Stem Cell

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

(2018) Ahmad N. Abou Tayoun et al.   HUMAN MUTATION

piRNA-Guided Genome Defense: From Biogenesis to Silencing

(2018) Benjamin Czech et al.   Annual Review of Genetics

The adult human testis transcriptional cell atlas

(2018) Jingtao Guo et al.   CELL RESEARCH

Analysis of Canadian multiple sclerosis patients does not support a role for FKBP6 in disease

(2018) Carles Vilariño-Güell et al.   Multiple Sclerosis Journal

PIWI-interacting RNAs: small RNAs with big functions

(2018) Deniz M. Ozata et al.   NATURE REVIEWS GENETICS

Loss-of-function mutations in TDRD7 lead to a rare novel syndrome combining congenital cataract and nonobstructive azoospermia in humans

(2017) Yue-Qiu Tan et al.   GENETICS IN MEDICINE

Human-specific subcellular compartmentalization of P-element induced wimpy testis-like (PIWIL) granules during germ cell development and spermatogenesis

(2017) Maria Gomes Fernandes et al.   HUMAN REPRODUCTION

Mutation in TDRD9 causes non-obstructive azoospermia in infertile men

(2017) Maram Arafat et al.   JOURNAL OF MEDICAL GENETICS

PNLDC1 is essential for piRNA 3′ end trimming and transposon silencing during spermatogenesis in mice

(2017) Deqiang Ding et al.   Nature Communications

Germ granule-mediated RNA regulation in male germ cells

(2017) Tiina Lehtiniemi et al.   REPRODUCTION

RareVariantVis: new tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing data

(2016) Tomasz Stokowy et al.   BIOINFORMATICS

Engineered LINE-1 retrotransposition in nondividing human neurons

(2016) Angela Macia et al.   GENOME RESEARCH

Identification of sperm equatorial segment protein 1 in the acrosome as the primary binding target of peanut agglutinin (PNA) in the mouse testis

(2016) Hiroki Nakata et al.   HISTOCHEMISTRY AND CELL BIOLOGY

Multiple LINEs of retrotransposon silencing mechanisms in the mammalian germline

(2016) Fang Yang et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

piRNA-directed cleavage of meiotic transcripts regulates spermatogenesis

(2015) Wee Siong Sho Goh et al.   GENES & DEVELOPMENT

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

ClinGen — The Clinical Genome Resource

(2015) Heidi L. Rehm et al.   NEW ENGLAND JOURNAL OF MEDICINE

Piwi Proteins and piRNAs in Mammalian Oocytes and Early Embryos

(2015) Elke F. Roovers et al.   Cell Reports

Pachytene piRNAs instruct massive mRNA elimination during late spermiogenesis

(2014) Lan-Tao Gou et al.   CELL RESEARCH

Reduced pachytene piRNAs and translation underlie spermiogenic arrest in Maelstrom mutant mice

(2014) J. Castaneda et al.   EMBO JOURNAL

HSP90α plays an important role in piRNA biogenesis and retrotransposon repression in mouse

(2014) Tomoko Ichiyanagi et al.   NUCLEIC ACIDS RESEARCH

Multiple Epigenetic Mechanisms and the piRNA Pathway Enforce LINE1 Silencing during Adult Spermatogenesis

(2013) Monica Di Giacomo et al.   MOLECULAR CELL

piRNA biogenesis during adult spermatogenesis in mice is independent of the ping-pong mechanism

(2012) Ergin Beyret et al.   CELL RESEARCH

A Role for Fkbp6 and the Chaperone Machinery in piRNA Amplification and Transposon Silencing

(2012) Jordi Xiol et al.   MOLECULAR CELL

shutdown is a component of the Drosophila piRNA biogenesis machinery

(2012) J. B. Preall et al.   RNA

Blockade of Pachytene piRNA Biogenesis Reveals a Novel Requirement for Maintaining Post-Meiotic Germline Genome Integrity

(2012) Ke Zheng et al.   PLoS Genetics

The role of asynapsis in human spermatocyte failure

(2011) R. B. Sciurano et al.   INTERNATIONAL JOURNAL OF ANDROLOGY

Miwi catalysis is required for piRNA amplification-independent LINE1 transposon silencing

(2011) Michael Reuter et al.   NATURE

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Proteomic analysis of murine Piwi proteins reveals a role for arginine methylation in specifying interaction with Tudor family members

(2009) V. V. Vagin et al.   GENES & DEVELOPMENT

Loss of the Mili-interacting Tudor domain–containing protein-1 activates transposons and alters the Mili-associated small RNA profile

(2009) Michael Reuter et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Ultrafast and memory-efficient alignment of short DNA sequences to the human genome

(2009) Ben Langmead et al.   GENOME BIOLOGY