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Quoted phrase not found in phrase index: "Spermatogenic failure 12"
Page 1
Non-syndromic monogenic male infertility.
Guerri G, Maniscalchi T, Barati S, Busetto GM, Del Giudice F, De Berardinis E, Cannarella R, Calogero AE, Bertelli M. Guerri G, et al. Acta Biomed. 2019 Sep 30;90(10-S):62-67. doi: 10.23750/abm.v90i10-S.8762. Acta Biomed. 2019. PMID: 31577257 Free PMC article. Review.
Infertility is a widespread clinical problem affecting 8-12% of couples worldwide. Of these, about 30% are diagnosed with idiopathic infertility since no causative factor is found. ...Mutations of specific genes involved in meiosis, mitosis or spermiohistogenesis result in …
Infertility is a widespread clinical problem affecting 8-12% of couples worldwide. Of these, about 30% are diagnosed with idiopathic …
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 …
Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men.
Krausz C, Riera-Escamilla A, Moreno-Mendoza D, Holleman K, Cioppi F, Algaba F, Pybus M, Friedrich C, Wyrwoll MJ, Casamonti E, Pietroforte S, Nagirnaja L, Lopes AM, Kliesch S, Pilatz A, Carrell DT, Conrad DF, Ars E, Ruiz-Castañé E, Aston KI, Baarends WM, Tüttelmann F. Krausz C, et al. Genet Med. 2020 Dec;22(12):1956-1966. doi: 10.1038/s41436-020-0907-1. Epub 2020 Aug 3. Genet Med. 2020. PMID: 32741963 Free PMC article.
PURPOSE: Azoospermia affects 1% of men and it can be the consequence of spermatogenic maturation arrest (MA). Although the etiology of MA is likely to be of genetic origin, only 13 genes have been reported as recurrent potential causes of MA. ...Wider implications include …
PURPOSE: Azoospermia affects 1% of men and it can be the consequence of spermatogenic maturation arrest (MA). Although the etiology o …
Copy number variations in spermatogenic failure patients with chromosomal abnormalities and unexplained azoospermia.
Dong Y, Pan Y, Wang R, Zhang Z, Xi Q, Liu RZ. Dong Y, et al. Genet Mol Res. 2015 Dec 7;14(4):16041-9. doi: 10.4238/2015.December.7.17. Genet Mol Res. 2015. PMID: 26662397 Free article.
Spermatogenic failure patients consisting of 13 males with chromosomal abnormalities and 20 with unexplained azoospermia were enrolled. ...By applying high throughput genome-wide sequencing to determine CNVs, we provide a number of candidate genes possibly contribut …
Spermatogenic failure patients consisting of 13 males with chromosomal abnormalities and 20 with unexplained azoospermia were …
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. 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 critical element of successful spermatogenesis is maintenance of genome integrity. Here, we present a genomic study of spermatogenic failure (SPGF). Our initial analysis (n = 176) did not reveal known gene-candidates but identified a potentially significant single …
A critical element of successful spermatogenesis is maintenance of genome integrity. Here, we present a genomic study of spermatogenic …
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. 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.
Collectively, our study represents a significant step towards the definition of the missing genetic etiology in idiopathic severe spermatogenic failure and significantly reduces the knowledge gap of X-linked genetic causes of azoospermia/cryptozoospermia contributin …
Collectively, our study represents a significant step towards the definition of the missing genetic etiology in idiopathic severe spermat …
Whole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort.
Quarantani G, Sorgente A, Alfano M, Pipitone GB, Boeri L, Pozzi E, Belladelli F, Pederzoli F, Ferrara AM, Montorsi F, Moles A, Carrera P, Salonia A, Casari G. Quarantani G, et al. PLoS One. 2023 Aug 4;18(8):e0288336. doi: 10.1371/journal.pone.0288336. eCollection 2023. PLoS One. 2023. PMID: 37540677 Free PMC article.
The ad-hoc manually curated gene library prioritizes genes already known to be associated with more common and rare syndromic and non-syndromic male infertility forms. Twelve monogenic cases (12.1%) were identified in the whole cohort of patients. Of these, three patients …
The ad-hoc manually curated gene library prioritizes genes already known to be associated with more common and rare syndromic and non-syndro …
Investigating the Role of the microRNA-34/449 Family in Male Infertility: A Critical Analysis and Review of the Literature.
Pantos K, Grigoriadis S, Tomara P, Louka I, Maziotis E, Pantou A, Nitsos N, Vaxevanoglou T, Kokkali G, Agarwal A, Sfakianoudis K, Simopoulou M. Pantos K, et al. Front Endocrinol (Lausanne). 2021 Jul 1;12:709943. doi: 10.3389/fendo.2021.709943. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34276570 Free PMC article. Review.
High hydrostatic pressure progressively leads to testicular dysfunction as well as to spermatogenic failure and finally to male infertility, which could range from severe oligoasthenozoospermia to azoospermia. ...
High hydrostatic pressure progressively leads to testicular dysfunction as well as to spermatogenic failure and finally to mal …
DAX-1 and DAX-1A expression in human testicular tissues with primary spermatogenic failure.
Lardone MC, Parada-Bustamante A, Ebensperger M, Valdevenito R, Kakarieka E, Martínez D, Pommer R, Piottante A, Castro A. Lardone MC, et al. Mol Hum Reprod. 2011 Dec;17(12):739-46. doi: 10.1093/molehr/gar051. Epub 2011 Jul 20. Mol Hum Reprod. 2011. PMID: 21775412
We aimed to study the mRNA and protein expression of DAX-1 in testicular tissues of 65 men with primary spermatogenic failure [complete Sertoli cell only syndrome (SCOS), focal SCOS, maturation arrest and mixed atrophy] compared with 33 controls with normal spermato …
We aimed to study the mRNA and protein expression of DAX-1 in testicular tissues of 65 men with primary spermatogenic failure …
Male Infertility Diagnosis: Improvement of Genetic Analysis Performance by the Introduction of Pre-Diagnostic Genes in a Next-Generation Sequencing Custom-Made Panel.
Precone V, Cannarella R, Paolacci S, Busetto GM, Beccari T, Stuppia L, Tonini G, Zulian A, Marceddu G, Calogero AE, Bertelli M. Precone V, et al. Front Endocrinol (Lausanne). 2021 Jan 26;11:605237. doi: 10.3389/fendo.2020.605237. eCollection 2020. Front Endocrinol (Lausanne). 2021. PMID: 33574797 Free PMC article.
METHODS: We developed a next-generation sequencing (NGS) gene panel including 65 pre-diagnostic genes that were used in 12 patients who were negative to a diagnostic genetic test for male infertility disorders, including primary spermatogenic failure and cent …
METHODS: We developed a next-generation sequencing (NGS) gene panel including 65 pre-diagnostic genes that were used in 12 patients w …
23 results