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Quoted phrase not found in phrase index: "Spermatogenic failure 11"
Page 1
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.
We find further support for 21 genes in a 2-stage burden test with 2072 cases and 11,587 fertile controls. The disrupted genes are primarily on the autosomes, enriched for undescribed human "knockouts", and, for the most part, have yet to be linked to a Mendelian trait. .. …
We find further support for 21 genes in a 2-stage burden test with 2072 cases and 11,587 fertile controls. The disrupted genes are pr …
Toward clinical exomes in diagnostics and management of male infertility.
Lillepea K, Juchnewitsch AG, Kasak L, Valkna A, Dutta A, Pomm K, Poolamets O, Nagirnaja L, Tamp E, Mahyari E, Vihljajev V, Tjagur S, Papadimitriou S, Riera-Escamilla A, Versbraegen N, Farnetani G, Castillo-Madeen H, Sütt M, Kübarsepp V, Tennisberg S, Korrovits P, Krausz C, Aston KI, Lenaerts T, Conrad DF, Punab M, Laan M. Lillepea K, et al. Am J Hum Genet. 2024 May 2;111(5):877-895. doi: 10.1016/j.ajhg.2024.03.013. Epub 2024 Apr 12. Am J Hum Genet. 2024. PMID: 38614076
Infertility, affecting 10% of men, is predominantly caused by primary spermatogenic failure (SPGF). We screened likely pathogenic and pathogenic (LP/P) variants in 638 candidate genes for male infertility in 521 individuals presenting idiopathic SPGF and 323 normozo …
Infertility, affecting 10% of men, is predominantly caused by primary spermatogenic failure (SPGF). We screened likely pathoge …
Microdeletions and microduplications linked to severe congenital disorders in infertile men.
Kikas T, Punab AM, Kasak L, Poolamets O, Vihljajev V, Pomm K, Reiman M, Tjagur S, Korrovits P, Punab M, Laan M. Kikas T, et al. Sci Rep. 2023 Jan 11;13(1):574. doi: 10.1038/s41598-023-27750-w. Sci Rep. 2023. PMID: 36631630 Free PMC article.
Data on the clinical validity of DNA copy number variants (CNVs) in spermatogenic failure (SPGF) is limited. This study analyzed the genome-wide CNV profile in 215 men with idiopathic SPGF and 62 normozoospermic fertile men, recruited at the Andrology Clinic, Tartu …
Data on the clinical validity of DNA copy number variants (CNVs) in spermatogenic failure (SPGF) is limited. This study analyz …
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. 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.
After assaying genomewide SNPs and CNVs in 323 Caucasian men with idiopathic spermatogenic impairment and more than 1,100 controls, we estimate that each rare autosomal deletion detected in our study multiplicatively changes a man's risk of disease by 10% (OR 1.10 [1.04-1. …
After assaying genomewide SNPs and CNVs in 323 Caucasian men with idiopathic spermatogenic impairment and more than 1,100 controls, w …
High serum FSH is not a risk factor for low bone mineral density in infertile men.
Antonio L, Priskorn L, Olesen IA, Petersen JH, Vanderschueren D, Jørgensen N. Antonio L, et al. Bone. 2020 Jul;136:115366. doi: 10.1016/j.bone.2020.115366. Epub 2020 Apr 15. Bone. 2020. PMID: 32304878
METHODS: One hundred and thirty-seven men with a history of male factor infertility due to spermatogenic failure (SgF men) as well as a control group of 70 men from couples treated with IVF for female factor infertility (non-SgF men) were included in a long-term fol …
METHODS: One hundred and thirty-seven men with a history of male factor infertility due to spermatogenic failure (SgF men) as …
Claudin-11 and connexin-43 display altered spatial patterns of organization in men with primary seminiferous tubule failure compared with controls.
Haverfield JT, Meachem SJ, O'Bryan MK, McLachlan RI, Stanton PG. Haverfield JT, et al. Fertil Steril. 2013 Sep;100(3):658-66. doi: 10.1016/j.fertnstert.2013.04.034. Epub 2013 May 23. Fertil Steril. 2013. PMID: 23706332 Free article.
RESULT(S): In men with primary seminiferous tubule failure, four organizational patterns (I-IV) were recognized and quantified for claudin-11. ...CONCLUSION(S): The spatial organization of claudin-11 and connexin-43 is altered in men with primary seminiferous …
RESULT(S): In men with primary seminiferous tubule failure, four organizational patterns (I-IV) were recognized and quantified for cl …
Histological and hormonal testicular function in oligo/azoospermic infertile men.
Lardone MC, Piottante A, Valdevenito R, Ebensperger M, Castro A. Lardone MC, et al. Andrologia. 2013 Dec;45(6):379-85. doi: 10.1111/and.12026. Epub 2012 Sep 26. Andrologia. 2013. PMID: 23013062

Patients with cSCOS, focal SCOS, mixed and severe atrophy had larger LC/clusters (11.5; 11.0; 10.7; 18.9 LC/cluster) than controls (6 LC/cluster; P < 0.001). cSCOS, focal SCOS, mixed and severe atrophy patients had higher FSH, LH and lower T/LH ratio serum levels

…
Patients with cSCOS, focal SCOS, mixed and severe atrophy had larger LC/clusters (11.5; 11.0; 10.7; 18.9 LC/cluster) than cont …
Systematic molecular analyses for 115 karyotypically normal men with isolated non-obstructive azoospermia.
Muranishi Y, Kobori Y, Katoh-Fukui Y, Tamaoka S, Hattori A, Osaka A, Okada H, Nakabayashi K, Hata K, Kawai T, Ogata-Kawata H, Iwahata T, Saito K, Kon M, Shinohara N, Fukami M. Muranishi Y, et al. Hum Reprod. 2024 May 2;39(5):1131-1140. doi: 10.1093/humrep/deae057. Hum Reprod. 2024. PMID: 38511217
This frequency is higher than that of the reference data in Japan and China (11.1% and 14.7%, respectively). Known NOA-causative AZF-linked CNVs were found in nine (7.8%) cases. ...These results broadened the structural variations of AZF-linked CNVs, which should be consid …
This frequency is higher than that of the reference data in Japan and China (11.1% and 14.7%, respectively). Known NOA-causative AZF- …
Relationship of genetic causes and inhibin B in non obstructive azoospermia spermatogenic failure.
Chu QJ, Hua R, Luo C, Chen QJ, Wu B, Quan S, Zhu YT. Chu QJ, et al. BMC Med Genet. 2017 Sep 6;18(1):98. doi: 10.1186/s12881-017-0456-x. BMC Med Genet. 2017. PMID: 28874128 Free PMC article.

RESULTS: Abnormal karyotypes were present in 38.5% of NOA, and YCMD were present in 18.0%, there was a high correlation between karyotypes and YCMD (chi(2) = 11.892, P < 0.001). The level of inhibin B in chromosomal abnormality from lowest to highest was 46,XX (or 45,X)

…
RESULTS: Abnormal karyotypes were present in 38.5% of NOA, and YCMD were present in 18.0%, there was a high correlation between karyotypes a …
Testicular Growth and Pubertal Onset in GH-Deficient Children Treated With Growth Hormone: A Retrospective Study.
Cannarella R, Caruso M, Crafa A, Timpanaro TA, Lo Bianco M, Presti S, Condorelli RA, La Vignera S, Calogero AE. Cannarella R, et al. Front Endocrinol (Lausanne). 2021 Apr 2;12:619895. doi: 10.3389/fendo.2021.619895. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 33868165 Free PMC article.
The search for determinants of testicular growth in childhood is important for the primary prevention of spermatogenic failure. Therefore, this retrospective study aimed to evaluate the testicular growth and pubertal onset in deficient children treated recombinant h …
The search for determinants of testicular growth in childhood is important for the primary prevention of spermatogenic failure …
39 results