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The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans.
Wyrwoll MJ, Gaasbeek CM, Golubickaite I, Stakaitis R, Oud MS, Nagirnaja L, Dion C, Sindi EB, Leitch HG, Jayasena CN, Sironen A, Dicke AK, Rotte N, Stallmeyer B, Kliesch S, Grangeiro CHP, Araujo TF, Lasko P; Genetics of Male Infertility Initiative (GEMINI) consortium; D'Hauwers K, Smits RM, Ramos L, Xavier MJ, Conrad DF, Almstrup K, Veltman JA, Tüttelmann F, van der Heijden GW. Wyrwoll MJ, et al. Among authors: conrad df. Am J Hum Genet. 2022 Oct 6;109(10):1850-1866. doi: 10.1016/j.ajhg.2022.09.002. Epub 2022 Sep 22. Am J Hum Genet. 2022. PMID: 36150389 Free PMC article.
Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia.
Salas-Huetos A, Tüttelmann F, Wyrwoll MJ, Kliesch S, Lopes AM, Goncalves J, Boyden SE, Wöste M, Hotaling JM; GEMINI Consortium; Nagirnaja L, Conrad DF, Carrell DT, Aston KI. Salas-Huetos A, et al. Among authors: conrad df. Hum Genet. 2021 Jan;140(1):217-227. doi: 10.1007/s00439-020-02236-1. Epub 2020 Nov 19. Hum Genet. 2021. PMID: 33211200 Free PMC article.
Correction to: Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia.
Salas-Huetos A, Tüttelmann F, Wyrwoll MJ, Kliesch S, Lopes AM, Gonçalves J, Boyden SE, Wöste M, Hotaling JM; GEMINI Consortium; Nagirnaja L, Conrad DF, Carrell DT, Aston KI. Salas-Huetos A, et al. Among authors: conrad df. Hum Genet. 2021 Jan;140(1):229. doi: 10.1007/s00439-020-02244-1. Hum Genet. 2021. PMID: 33377991 No abstract available.
Lack of evidence for a role of PIWIL1 variants in human male infertility.
Oud MS, Volozonoka L, Friedrich C, Kliesch S, Nagirnaja L, Gilissen C, O'Bryan MK, McLachlan RI, Aston KI, Tüttelmann F, Conrad DF, Veltman JA. Oud MS, et al. Among authors: conrad df. Cell. 2021 Apr 15;184(8):1941-1942. doi: 10.1016/j.cell.2021.03.001. Cell. 2021. PMID: 33861957 Free PMC article. No abstract available.
Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure.
Hardy JJ, Wyrwoll MJ, Mcfadden W, Malcher A, Rotte N, Pollock NC, Munyoki S, Veroli MV, Houston BJ, Xavier MJ, Kasak L, Punab M, Laan M, Kliesch S, Schlegel P, Jaffe T, Hwang K, Vukina J, Brieño-Enríquez MA, Orwig K, Yanowitz J, Buszczak M, Veltman JA, Oud M, Nagirnaja L, Olszewska M, O'Bryan MK, Conrad DF, Kurpisz M, Tüttelmann F, Yatsenko AN; GEMINI Consortium. Hardy JJ, et al. Among authors: conrad df. Hum Genet. 2021 Aug;140(8):1169-1182. doi: 10.1007/s00439-021-02287-y. Epub 2021 May 7. Hum Genet. 2021. PMID: 33963445 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: conrad df. Hum Reprod Update. 2021 Dec 21;28(1):15-29. doi: 10.1093/humupd/dmab030. Hum Reprod Update. 2021. PMID: 34498060 Free PMC 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: conrad df. Nat Commun. 2022 Jan 10;13(1):154. doi: 10.1038/s41467-021-27132-8. Nat Commun. 2022. PMID: 35013161 Free PMC article.
Human INHBB Gene Variant (c.1079T>C:p.Met360Thr) Alters Testis Germ Cell Content, but Does Not Impact Fertility in Mice.
Houston BJ, O'Connor AE, Wang D, Goodchild G, Merriner DJ, Luan H, Conrad DF, Nagirnaja L, Aston KI, Kliesch S, Wyrwoll MJ, Friedrich C, Tüttelmann F, Harrison C, O'Bryan MK, Walton K. Houston BJ, et al. Among authors: conrad df. Endocrinology. 2022 Mar 1;163(3):bqab269. doi: 10.1210/endocr/bqab269. Endocrinology. 2022. PMID: 35022746
123 results