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Page 1
Diverse monogenic subforms of human spermatogenic failure.
Nagirnaja L, Lopes AM, Charng WL, Miller B, Stakaitis R, Golubickaite I, Stendahl A, Luan T, Friedrich C, Mahyari E, Fadial E, Kasak L, Vigh-Conrad K, Oud MS, Xavier MJ, Cheers SR, James ER, Guo J, Jenkins TG, Riera-Escamilla A, Barros A, Carvalho F, Fernandes S, Gonçalves J, Gurnett CA, Jørgensen N, Jezek D, Jungheim ES, Kliesch S, McLachlan RI, Omurtag KR, Pilatz A, Sandlow JI, Smith J, Eisenberg ML, Hotaling JM, Jarvi KA, Punab M, Rajpert-De Meyts E, Carrell DT, Krausz C, Laan M, O'Bryan MK, Schlegel PN, Tüttelmann F, Veltman JA, Almstrup K, Aston KI, Conrad DF. Nagirnaja L, et al. Nat Commun. 2022 Dec 26;13(1):7953. doi: 10.1038/s41467-022-35661-z. Nat Commun. 2022. PMID: 36572685 Free PMC article.
Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure.
Riera-Escamilla A, Vockel M, Nagirnaja L, Xavier MJ, Carbonell A, Moreno-Mendoza D, Pybus M, Farnetani G, Rosta V, Cioppi F, Friedrich C, Oud MS, van der Heijden GW, Soave A, Diemer T, Ars E, Sánchez-Curbelo J, Kliesch S, O'Bryan MK, Ruiz-Castañe E; GEMINI Consortium; Azorín F, Veltman JA, Aston KI, Conrad DF, Tüttelmann F, Krausz C. Riera-Escamilla A, et al. Among authors: nagirnaja l. Am J Hum Genet. 2022 Aug 4;109(8):1458-1471. doi: 10.1016/j.ajhg.2022.06.007. Epub 2022 Jul 8. Am J Hum Genet. 2022. PMID: 35809576 Free PMC article.
A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.
Houston BJ, Riera-Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, Friedrich C, Conrad DF, Aston KI, Krausz C, Tüttelmann F, O'Bryan MK, Veltman JA, Oud MS. Houston BJ, et al. Among authors: nagirnaja l. Hum Reprod Update. 2021 Dec 21;28(1):15-29. doi: 10.1093/humupd/dmab030. Hum Reprod Update. 2021. PMID: 34498060 Free PMC article.
Toward clinical exomes in diagnostics and management of male infertility.
Lillepea K, Juchnewitsch AG, Kasak L, Valkna A, Dutta A, Pomm K, Poolamets O, Nagirnaja L, Tamp E, Mahyari E, Vihljajev V, Tjagur S, Papadimitriou S, Riera-Escamilla A, Versbraegen N, Farnetani G, Castillo-Madeen H, Sütt M, Kübarsepp V, Tennisberg S, Korrovits P, Krausz C, Aston KI, Lenaerts T, Conrad DF, Punab M, Laan M. Lillepea K, et al. Among authors: nagirnaja l. Am J Hum Genet. 2024 May 2;111(5):877-895. doi: 10.1016/j.ajhg.2024.03.013. Epub 2024 Apr 12. Am J Hum Genet. 2024. PMID: 38614076 Free PMC article.
Undiagnosed RASopathies in infertile men.
Juchnewitsch AG, Pomm K, Dutta A, Tamp E, Valkna A, Lillepea K, Mahyari E, Tjagur S, Belova G, Kübarsepp V, Castillo-Madeen H, Riera-Escamilla A, Põlluaas L, Nagirnaja L, Poolamets O, Vihljajev V, Sütt M, Versbraegen N, Papadimitriou S, McLachlan RI, Jarvi KA, Schlegel PN, Tennisberg S, Korrovits P, Vigh-Conrad K, O'Bryan MK, Aston KI, Lenaerts T, Conrad DF, Kasak L, Punab M, Laan M. Juchnewitsch AG, et al. Among authors: nagirnaja l. Front Endocrinol (Lausanne). 2024 Apr 9;15:1312357. doi: 10.3389/fendo.2024.1312357. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 38654924 Free PMC article.
Genetic intersection of male infertility and cancer.
Nagirnaja L, Aston KI, Conrad DF. Nagirnaja L, et al. Fertil Steril. 2018 Jan;109(1):20-26. doi: 10.1016/j.fertnstert.2017.10.028. Fertil Steril. 2018. PMID: 29307395 Free PMC article. Review.
C19ORF84 connects piRNA and DNA methylation machineries to defend the mammalian germ line.
Zoch A, Konieczny G, Auchynnikava T, Stallmeyer B, Rotte N, Heep M, Berrens RV, Schito M, Kabayama Y, Schöpp T, Kliesch S, Houston B, Nagirnaja L, O'Bryan MK, Aston KI, Conrad DF, Rappsilber J, Allshire RC, Cook AG, Tüttelmann F, O'Carroll D. Zoch A, et al. Among authors: nagirnaja l. Mol Cell. 2024 Mar 21;84(6):1021-1035.e11. doi: 10.1016/j.molcel.2024.01.014. Epub 2024 Feb 14. Mol Cell. 2024. PMID: 38359823 Free article.
A de novo paradigm for male infertility.
Oud MS, Smits RM, Smith HE, Mastrorosa FK, Holt GS, Houston BJ, de Vries PF, Alobaidi BKS, Batty LE, Ismail H, Greenwood J, Sheth H, Mikulasova A, Astuti GDN, Gilissen C, McEleny K, Turner H, Coxhead J, Cockell S, Braat DDM, Fleischer K, D'Hauwers KWM, Schaafsma E; Genetics of Male Infertility Initiative (GEMINI) consortium; Nagirnaja L, Conrad DF, Friedrich C, Kliesch S, Aston KI, Riera-Escamilla A, Krausz C, Gonzaga-Jauregui C, Santibanez-Koref M, Elliott DJ, Vissers LELM, Tüttelmann F, O'Bryan MK, Ramos L, Xavier MJ, van der Heijden GW, Veltman JA. Oud MS, et al. Among authors: nagirnaja l. Nat Commun. 2022 Jan 10;13(1):154. doi: 10.1038/s41467-021-27132-8. Nat Commun. 2022. PMID: 35013161 Free PMC article.
Variant PNLDC1, Defective piRNA Processing, and Azoospermia.
Nagirnaja L, Mørup N, Nielsen JE, Stakaitis R, Golubickaite I, Oud MS, Winge SB, Carvalho F, Aston KI, Khani F, van der Heijden GW, Marques CJ, Skakkebaek NE, Rajpert-De Meyts E, Schlegel PN, Jørgensen N, Veltman JA, Lopes AM, Conrad DF, Almstrup K. Nagirnaja L, et al. N Engl J Med. 2021 Aug 19;385(8):707-719. doi: 10.1056/NEJMoa2028973. Epub 2021 Aug 4. N Engl J Med. 2021. PMID: 34347949 Free PMC article.
42 results