Concepedia

Variant <i>PNLDC1</i> , Defective piRNA Processing, and Azoospermia

Liina Nagirnaja, Nina Mørup, John Nielsen, Rytis Stakaitis, Ieva Golubickaitė, Manon S. Oud, Sofia Boeg Winge, Filipa Carvalho, Kenneth I. Aston, Francesca Khani,

New England Journal of Medicine · 2021 · 95 citations · 29 references

DOIFull text

Open access

Abstract

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.).

References

29

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

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Tissue-based map of the human proteome

Mathias Uhlén, Linn Fagerberg, Björn M. Hallström et al. · Science · 2015 · 15.3K citations · Full text

A germline-specific class of small RNAs binds mammalian Piwi proteins

Angélique Girard, Ravi Sachidanandam, Gregory J. Hannon et al. · Nature · 2006 · 1.8K citations

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European Association of Urology Guidelines on Male Infertility: The 2012 Update

A. Jungwirth, Aleksander Giwercman, Herman Tournaye et al. · European Urology · 2012 · 1K citations

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