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Common genetic variation in KATNAL1 non-coding regions is involved in the susceptibility to severe phenotypes of male infertility.
Cerván-Martín M, Bossini-Castillo L, Guzmán-Jiménez A, Rivera-Egea R, Garrido N, Lujan S, Romeu G, Santos-Ribeiro S; IVIRMA Group; Lisbon Clinical Group; Castilla JA, Gonzalvo MDC, Clavero A, Maldonado V, Vicente FJ, Burgos M, Jiménez R, González-Muñoz S, Sánchez-Curbelo J, López-Rodrigo O, Pereira-Caetano I, Marques PI, Carvalho F, Barros A, Bassas L, Seixas S, Gonçalves J, Larriba S, Lopes AM, Palomino-Morales RJ, Carmona FD. Cerván-Martín M, et al. Among authors: goncalves j. Andrology. 2022 Oct;10(7):1339-1350. doi: 10.1111/andr.13221. Epub 2022 Jul 8. Andrology. 2022. PMID: 35752927 Free PMC article.
Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.
Lopes AM, Aston KI, Thompson E, Carvalho F, Gonçalves J, Huang N, Matthiesen R, Noordam MJ, Quintela I, Ramu A, Seabra C, Wilfert AB, Dai J, Downie JM, Fernandes S, Guo X, Sha J, Amorim A, Barros A, Carracedo A, Hu Z, Hurles ME, Moskovtsev S, Ober C, Paduch DA, Schiffman JD, Schlegel PN, Sousa M, Carrell DT, Conrad DF. Lopes AM, et al. Among authors: goncalves j. PLoS Genet. 2013 Mar;9(3):e1003349. doi: 10.1371/journal.pgen.1003349. Epub 2013 Mar 21. PLoS Genet. 2013. PMID: 23555275 Free PMC article.
The mutational spectrum of WT1 in male infertility.
Seabra CM, Quental S, Lima AC, Carvalho F, Gonçalves J, Fernandes S, Pereira I, Silva J, Marques PI, Sousa M, Barros A, Seixas S, Amorim A, Lopes AM. Seabra CM, et al. Among authors: goncalves j. J Urol. 2015 May;193(5):1709-15. doi: 10.1016/j.juro.2014.11.004. Epub 2014 Nov 11. J Urol. 2015. PMID: 25451826
Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility.
Wyrwoll MJ, Temel ŞG, Nagirnaja L, Oud MS, Lopes AM, van der Heijden GW, Heald JS, Rotte N, Wistuba J, Wöste M, Ledig S, Krenz H, Smits RM, Carvalho F, Gonçalves J, Fietz D, Türkgenç B, Ergören MC, Çetinkaya M, Başar M, Kahraman S, McEleny K, Xavier MJ, Turner H, Pilatz A, Röpke A, Dugas M, Kliesch S, Neuhaus N; GEMINI Consortium; Aston KI, Conrad DF, Veltman JA, Friedrich C, Tüttelmann F. Wyrwoll MJ, et al. Among authors: goncalves j. Am J Hum Genet. 2020 Aug 6;107(2):342-351. doi: 10.1016/j.ajhg.2020.06.010. Epub 2020 Jul 15. Am J Hum Genet. 2020. PMID: 32673564 Free PMC article.
1,665 results