Variant PNLDC1, Defective piRNA Processing, and Azoospermia.
Liina NagirnajaNina MørupJohn E NielsenRytis StakaitisIeva GolubickaitėManon S OudSofia B WingeFilipa CarvalhoKenneth I AstonFrancesca KhaniGodfried W van der HeijdenC Joana MarquesNiels E SkakkebaekEwa Rajpert-De MeytsPeter N SchlegelNiels JørgensenJoris A VeltmanAlexandra M LopesDonald F ConradKristian AlmstrupPublished in: The New England journal of medicine (2021)
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.).