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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.
Spermatogenic failure and the Y chromosome.
Krausz C, Casamonti E. Krausz C, et al. Hum Genet. 2017 May;136(5):637-655. doi: 10.1007/s00439-017-1793-8. Epub 2017 Apr 29. Hum Genet. 2017. PMID: 28456834 Review.
Genetics of spermatogenic failure.
Huang WJ, Yen PH. Huang WJ, et al. Sex Dev. 2008;2(4-5):251-9. doi: 10.1159/000152041. Epub 2008 Nov 5. Sex Dev. 2008. PMID: 18987499 Review.
Spermatogenesis is an ongoing developmental process in adult testes that requires the coordinated expression of many genes. The genetic causes of spermatogenic failure in men remain largely unknown, though abnormalities in the sex chromosomes constitute a significan …
Spermatogenesis is an ongoing developmental process in adult testes that requires the coordinated expression of many genes. The genetic caus …
Klinefelter syndrome and TESE-ICSI.
Plotton I, Brosse A, Cuzin B, Lejeune H. Plotton I, et al. Ann Endocrinol (Paris). 2014 May;75(2):118-25. doi: 10.1016/j.ando.2014.04.004. Epub 2014 Apr 29. Ann Endocrinol (Paris). 2014. PMID: 24786702 Review.
We will discuss first the potential fertility following Testicular Sperm Injection, then the physiopathology of spermatogenic failure and the origin of focal spermatogenesis and risk of aneuploidy in offspring, and third the advantage of searching spermatozoa earlie …
We will discuss first the potential fertility following Testicular Sperm Injection, then the physiopathology of spermatogenic fail …
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. Hum Reprod Update. 2021 Dec 21;28(1):15-29. doi: 10.1093/humupd/dmab030. Hum Reprod Update. 2021. PMID: 34498060 Free PMC article.
External and Genetic Conditions Determining Male Infertility.
Kamiński P, Baszyński J, Jerzak I, Kavanagh BP, Nowacka-Chiari E, Polanin M, Szymański M, Woźniak A, Kozera W. Kamiński P, et al. Int J Mol Sci. 2020 Jul 24;21(15):5274. doi: 10.3390/ijms21155274. Int J Mol Sci. 2020. PMID: 32722328 Free PMC article. Review.
Alongside karyotype abnormalities AZF microdeletions are the reason of spermatogenic failure. Amongst AZF genes, the deleted in azoospermia DAZ gene family is reported as most frequently deleted AZF. ...
Alongside karyotype abnormalities AZF microdeletions are the reason of spermatogenic failure. Amongst AZF genes, the deleted i …
Genetic Architecture of Azoospermia-Time to Advance the Standard of Care.
Wyrwoll MJ, Köckerling N, Vockel M, Dicke AK, Rotte N, Pohl E, Emich J, Wöste M, Ruckert C, Wabschke R, Seggewiss J, Ledig S, Tewes AC, Stratis Y, Cremers JF, Wistuba J, Krallmann C, Kliesch S, Röpke A, Stallmeyer B, Friedrich C, Tüttelmann F. Wyrwoll MJ, et al. Eur Urol. 2023 May;83(5):452-462. doi: 10.1016/j.eururo.2022.05.011. Epub 2022 Jun 8. Eur Urol. 2023. PMID: 35690514
BACKGROUND: Crypto- and azoospermia (very few/no sperm in the semen) are main contributors to male factor infertility. Genetic causes for spermatogenic failure (SPGF) include Klinefelter syndrome and Y-chromosomal azoospermia factor microdeletions, and CFTR mutation …
BACKGROUND: Crypto- and azoospermia (very few/no sperm in the semen) are main contributors to male factor infertility. Genetic causes for …
Novel Mutations of TSPY1 Gene Associate Spermatogenic Failure Among Men.
Paladhi P, Dutta S, Pal S, Bose G, Ghosh P, Chattopadhyay R, Chakravarty B, Saha I, Ghosh S. Paladhi P, et al. Reprod Sci. 2022 Apr;29(4):1241-1261. doi: 10.1007/s43032-021-00839-1. Epub 2022 Jan 18. Reprod Sci. 2022. PMID: 35041134
The present study characterizes the role of Y chromosome specific spermatogenic regulator testis-specific protein Y-encoded 1 (TSPY1) gene mutation in spermatogenic failure. This case-control study includes 163 cases of spermatogenic failure and 175 ag …
The present study characterizes the role of Y chromosome specific spermatogenic regulator testis-specific protein Y-encoded 1 (TSPY1) gene m …
Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives.
Kasak L, Laan M. Kasak L, et al. Hum Genet. 2021 Jan;140(1):135-154. doi: 10.1007/s00439-020-02112-y. Epub 2020 Jan 18. Hum Genet. 2021. PMID: 31955275 Review.
Non-obstructive azoospermia (NOA) is mostly explained by congenital factors leading to spermatogenic failure, such as chromosome abnormalities. The knowledge of the monogenic causes of NOA is very limited. ...Uncovering the loci and biological processes implicated i …
Non-obstructive azoospermia (NOA) is mostly explained by congenital factors leading to spermatogenic failure, such as chromoso …
A common 1.6 mb Y-chromosomal inversion predisposes to subsequent deletions and severe spermatogenic failure in humans.
Hallast P, Kibena L, Punab M, Arciero E, Rootsi S, Grigorova M, Flores R, Jobling MA, Poolamets O, Pomm K, Korrovits P, Rull K, Xue Y, Tyler-Smith C, Laan M. Hallast P, et al. Elife. 2021 Mar 30;10:e65420. doi: 10.7554/eLife.65420. Elife. 2021. PMID: 33781384 Free PMC article.
So far, few genetic factors have been described as contributors to spermatogenic failure. Here, we report the first re-sequencing study of the Y-chromosomal Azoospermia Factor c (AZFc) region, combined with gene dosage analysis of the multicopy DAZ, BPY2, and CDYgen …
So far, few genetic factors have been described as contributors to spermatogenic failure. Here, we report the first re-sequenc …
173 results