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impaired spermatogenesis, and human male infertility Destination: title_link Children: Item: Title: Results Destination: A1 Children: Item: Title: Genes of the piRNA pathway are frequently mutated in infertile men Destination: B1 Item: Title: Variants in genes encoding components of the piRISC complex Destination: B2 Item: Title: Variants in genes involved in piRNA metabolic processes Destination: B3 Item: Title: Variants in the scaffold proteins encoded by the TDRD gene family Destination: B4 Item: Title: Impact of identified variants on expression of piRNA pathway components Destination: B5 Item: Title: Impact of identified variants on piRNA processing and transposon silencing Destination: B6 Item: Title: Comparison of piRNA factor gene-related testicular phenotypes between mice and men Destination: B7 Item: Title: Discussion Destination: A2 Item: Title: Methods Destination: A3 Children: Item: Title: Ethical approval Destination: B8 Item: Title: Study cohorts Destination: B9 Item: Title: Exome and genome sequencing Destination: B10 Item: Title: Variant calling Destination: B11 Item: Title: Gene Ontology analysis Destination: B12 Item: Title: Screening of exome data for biallelic high-impact variants Destination: B13 Item: Title: Further genetic analysis Destination: B14 Item: Title: NGS library preparation and long read sequencing using the MinION system Destination: B15 Item: Title: Minigene assay Destination: B16 Item: Title: Characterization of translation initiation in PLD6 c.1A>T Destination: B17 Item: Title: AlphaFold2 protein structure Destination: B18 Item: Title: Histology and Immunohistochemical staining Destination: B19 Item: Title: RNA extraction and small RNA sequencing Destination: B20 Item: Title: Statistics and reproducibility Destination: B21 Item: Title: Reporting summary Destination: B22 Item: Title: Data availability Destination: M1 Item: Title: References Destination: A4 Item: Title: Acknowledgements Destination: A5 Item: Title: Author 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Xavier Christian Ruckert Sara Persio Nina Neuhaus Ali Sami Gurbuz Ahmet Şalvarci Nicolas May Kevin McEleny Corinna Friedrich Godfried Heijden Margot J. Wyrwoll Sabine Kliesch Joris A. Veltman Csilla Krausz Stéphane Viville Donald F. Conrad Dónal O’Carroll Frank Tüttelmann Springer US Nature Communications, doi:10.1038/s41467-024-50930-9 10.1038/s41467-024-50930-9 http://dx.doi.org/10.1038/s41467-024-50930-9 journal Nature Communications © 2024, The Author(s) 2041-1723 10.1038/s41467-024-50930-9 springer.com springerlink.com 2010-04-23 True 10.1038/s41467-024-50930-9 springer.com springerlink.com Springer 2024-08-05T16:05:34+02:00 2024-08-02T19:24:28+05:30 2024-08-05T16:05:34+02:00 True VoR uuid:0e29e370-18dd-4246-8f39-b77d4ae3b5e8 uuid:4b03efd7-fcd9-4628-b064-725c1149dce0 default 1 converted uuid:d7ed6e15-b9fc-4fdb-b9d0-8d4b66893098 converted to PDF/A-2b pdfToolbox 2024-08-02T19:25:33+05:30 2 B Rytis Stakaitis http://orcid.org/0000-0001-5946-1731 Ann-Kristin Dicke http://orcid.org/0000-0002-2171-0525 Johanna Steingröver http://orcid.org/0009-0007-2272-026X Daniela Fietz http://orcid.org/0000-0002-7945-1810 Adrian Pilatz http://orcid.org/0000-0001-8072-1841 Antoni Riera-Escamilla http://orcid.org/0000-0002-4485-3094 Miguel J. 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