August 4, 2021Open Access

Variant PNLDC1 , Defective piRNA Processing, and Azoospermia

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Resumen

Our results suggest a direct mechanistic effect of faulty piRNA processing on meiosis and spermatogenesis in men, ultimately leading to male infertility. (Funded by Innovation Fund Denmark and others.).

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Nagirnaja et al. (Wed,) studied this question.

synapsesocial.com/papers/69d78fcd1f14cb2b27b8a3b8 https://doi.org/https://doi.org/10.1056/nejmoa2028973

Also Consider

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1Diagnosis and Treatment of Infertility in Men: AUA/ASRM Guideline Part I2020 · 251 citations
2A balanced translocation disrupting <i>BCL2L10</i> and <i>PNLDC1</i> segregates with affective psychosis2016 · 6 citations
3Relationship between Deleterious Variation, Genomic Autozygosity, and Disease Risk: Insights from The 1000 Genomes Project2018 · 65 citations
4RareVariantVis: new tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing data2016 · 7 citations
5European Association of Urology Guidelines on Male Infertility: The 2012 Update2012 · 1,037 citations

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