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The conserved genetic program of male germ cells uncovers ancient regulators of...
Brattig-Correia, Rion; Almeida, Joana M.; Wyrwoll, Margot Julia; Julca, Irene; Sobral, Daniel; Misra, Chandra Shekhar; Di Persio, SaraNational Institutes of Health (1R01LM012832) National Science Foundation (Research Traineeship grant 1735095). Deutsche Forschungsgemeinschaft (329621271). Ministry of Education, Singapore (MOE2018-T2-2-053). Publisher Copyright: © 2024, Brattig-Correia, Almeida, Wyrwoll et al.; Male germ cells share a common origin across animal species, therefore they likely retain a conserved genetic program that defines the...
Diverse monogenic subforms of human spermatogenic failure
Nagirnaja, Liina; Lopes, Alexandra M.; Charng, Wu Lin; Miller, Brian; Stakaitis, Rytis; Golubickaite, Ieva; Stendahl, Alexandra; Luan, TianpengchengNon-obstructive azoospermia (NOA) is the most severe form of male infertility and typically incurable. Defining the genetic basis of NOA has proven challenging, and the most advanced classification of NOA subforms is not based on genetics, but simple description of testis histology. In this study, we exome-sequenced over 1000 clinically diagnosed NOA cases and identified a plausible recessive Mendelian cause in...
Immune and spermatogenesis-related loci are involved in the development of extr...
Cerván-Martín, Miriam; Tüttelmann, Frank; Lopes, Alexandra M.; Bossini-Castillo, Lara; Rivera-Egea, Rocío; Garrido, Nicolás; Lujan, SaturninoFunding Information: We thank the National DNA Bank Carlos III (University of Salamanca, Spain) for supplying part of the control DNA samples from Spain and all the participants for their essential collaboration. This work was supported by the Spanish Ministry of Science through the Spanish National Plan for Scientific and Technical Research and Innovation (refs. SAF2016-78722-R and PID2020-120157RB-I00), the A...