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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. 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.
We initially identified a homozygous frameshift variant in FKBP6 in a man with extreme oligozoospermia. Subsequently, we screened a total of 2,699 men with SPGF and detected rare bi-allelic loss-of-function variants in FKBP6 in five additional persons. ...This will …
We initially identified a homozygous frameshift variant in FKBP6 in a man with extreme oligozoospermia. Subsequently, we scree …
Clinical data and parenthood of 63 infertile and Y-microdeleted men.
Patrat C, Bienvenu T, Janny L, Faure AK, Fauque P, Aknin-Seifer I, Davy C, Thiounn N, Jouannet P, Lévy R. Patrat C, et al. Fertil Steril. 2010 Feb;93(3):822-32. doi: 10.1016/j.fertnstert.2008.10.033. Epub 2008 Dec 4. Fertil Steril. 2010. PMID: 19062004 Free article.
OBJECTIVE: To collect follow-up data for infertile men with Y microdeletion. DESIGN: Retrospective, observational survey. SETTING: Multicenter IVF units associated with genetics laboratories. ...Most men (39 of 63) were azoospermic, 3 were cryptoazoospermic, and 19 had …
OBJECTIVE: To collect follow-up data for infertile men with Y microdeletion. DESIGN: Retrospective, observational survey. SETTING: Mu …
The testicular biopsy and spermatogenesis disturbance of infertile patients with bilateral varicocele.
Tchovelidze C, Sibony M, Callard P, Guetta T, Lababidi H, Arvis G. Tchovelidze C, et al. Arkh Patol. 2004 Mar-Apr;66(2):40-5. Arkh Patol. 2004. PMID: 15154383
SCOS was observed in 20 patients. All the patients have secretory azoospermia. SCOS is also observed together with other disorders of spermatogenesis. Tubular and peritubular fibrose atrophy was observed in 5 cases. ...
SCOS was observed in 20 patients. All the patients have secretory azoospermia. SCOS is also observed together with other disor …