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Quoted phrase not found in phrase index: "Spermatogenic failure 10"
Page 1
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.
Its highly repetitive structure predisposes this chromosome to deletion/duplication events and is responsible for Y-linked copy-number variations (CNVs) with clinical relevance. The AZF deletions remove genes with predicted spermatogenic function en block and are the most …
Its highly repetitive structure predisposes this chromosome to deletion/duplication events and is responsible for Y-linked copy-number varia …
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.
Male infertility is a prevalent condition, affecting 5-10% of men. So far, few genetic factors have been described as contributors to spermatogenic failure. ...Such complex rearrangements were significantly enriched among severe oligozoospermia cases. The car …
Male infertility is a prevalent condition, affecting 5-10% of men. So far, few genetic factors have been described as contributors to …
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). ...A 4-fold increased prevalence of cancer was observed in men with genetic infertility compared to the general male population (8% vs. 2%; p = 4.4 10(- …
Infertility, affecting 10% of men, is predominantly caused by primary spermatogenic failure (SPGF). ...A 4-fold increas …
Unravelling the genetics of spermatogenic failure.
Visser L, Repping S. Visser L, et al. Reproduction. 2010 Feb;139(2):303-7. doi: 10.1530/REP-09-0229. Epub 2009 Sep 23. Reproduction. 2010. PMID: 19776097 Review.
Subfertility, defined as the inability to conceive within 1 year of unprotected intercourse, affects 10-15% of couples. In up to 55% of couples, the male partner is diagnosed with spermatogenic failure, i.e. one or more semen parameters fall below the WHO cri …
Subfertility, defined as the inability to conceive within 1 year of unprotected intercourse, affects 10-15% of couples. In up to 55% …
Common genetic variation in KATNAL1 non-coding regions is involved in the susceptibility to severe phenotypes of male infertility.
Cerván-Martín M, Bossini-Castillo L, Guzmán-Jiménez A, Rivera-Egea R, Garrido N, Lujan S, Romeu G, Santos-Ribeiro S; IVIRMA Group; Lisbon Clinical Group; Castilla JA, Gonzalvo MDC, Clavero A, Maldonado V, Vicente FJ, Burgos M, Jiménez R, González-Muñoz S, Sánchez-Curbelo J, López-Rodrigo O, Pereira-Caetano I, Marques PI, Carvalho F, Barros A, Bassas L, Seixas S, Gonçalves J, Larriba S, Lopes AM, Palomino-Morales RJ, Carmona FD. Cerván-Martín M, et al. Andrology. 2022 Oct;10(7):1339-1350. doi: 10.1111/andr.13221. Epub 2022 Jul 8. Andrology. 2022. PMID: 35752927 Free PMC article.
Subsequent studies in humans also suggested a possible role of KATNAL1 single-nucleotide polymorphisms in the development of male infertility as a consequence of severe spermatogenic failure. OBJECTIVES: The main objective of the present study is to evaluate the eff …
Subsequent studies in humans also suggested a possible role of KATNAL1 single-nucleotide polymorphisms in the development of male infertilit …
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 1.1 …
After assaying genomewide SNPs and CNVs in 323 Caucasian men with idiopathic spermatogenic impairment and more than 1,100 controls, w …
The association between the two more common genetic causes of spermatogenic failure: a 7-year retrospective study.
Li HG, Fan LH, Liu B, Qian YQ, Chen M, Sun YX, Dong MY. Li HG, et al. Asian J Androl. 2020 Nov-Dec;22(6):642-648. doi: 10.4103/aja.aja_13_20. Asian J Androl. 2020. PMID: 32362598 Free PMC article.
Chromosomal abnormalities and Y chromosome microdeletions are considered to be the two more common genetic causes of spermatogenic failure. However, the relationship between chromosomal aberrations and Y chromosome microdeletions is still unclear. This study was to …
Chromosomal abnormalities and Y chromosome microdeletions are considered to be the two more common genetic causes of spermatogenic …
Risk Y-haplotypes and pathogenic variants of Arab-ancestry boys with autism by an exome-wide association study.
Alsubaie LM, Alsuwat HS, Almandil NB, AlSulaiman A, AbdulAzeez S, Borgio JF. Alsubaie LM, et al. Mol Biol Rep. 2020 Oct;47(10):7623-7632. doi: 10.1007/s11033-020-05832-6. Epub 2020 Sep 29. Mol Biol Rep. 2020. PMID: 32996047 Clinical Trial.
Y-chromosome haplotyping analysis of 6 SNPs such as rs1865680, rs2032624, rs2032658, rs2032631, rs9786153 and rs13447352 uncovered the most significant protective (ACGACA p = 2.94 10(-9)) among the controls and the high risk Y-haplotype (GAAGTC p = 6.85 10(-6)) amon …
Y-chromosome haplotyping analysis of 6 SNPs such as rs1865680, rs2032624, rs2032658, rs2032631, rs9786153 and rs13447352 uncovered the most …
Detection of chlamydia infection within human testicular biopsies.
Bryan ER, McLachlan RI, Rombauts L, Katz DJ, Yazdani A, Bogoevski K, Chang C, Giles ML, Carey AJ, Armitage CW, Trim LK, McLaughlin EA, Beagley KW. Bryan ER, et al. Hum Reprod. 2019 Oct 2;34(10):1891-1898. doi: 10.1093/humrep/dez169. Hum Reprod. 2019. PMID: 31586185 Free PMC article.
WIDER IMPLICATIONS FOR THE FINDINGS: Application of Chlamydia-specific PCR and immunohistochemistry in this human male infertility context of testicular biopsies reveals evidence of a high prevalence of previously unrecognised infection, which may potentially have a pathogenic ro …
WIDER IMPLICATIONS FOR THE FINDINGS: Application of Chlamydia-specific PCR and immunohistochemistry in this human male infertility context o …
52 results