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Macrozoospermia associated with mutations of AURKC gene: First case report in Latin America and literature review.
Ortega V, Oyanedel J, Fleck-Lavergne D, Horta F, Mercado-Campero A, Palma-Ceppi C. Ortega V, et al. Rev Int Androl. 2020 Oct-Dec;18(4):159-163. doi: 10.1016/j.androl.2019.04.004. Epub 2019 Aug 24. Rev Int Androl. 2020. PMID: 31455599 Review.
As previously described in the Human Gene Mutation Database (HGMD), this pathogenic variant is associated with macrozoospermia. Although this mutation is not the most frequently observed, it is the first of its kind reported in Latin America....
As previously described in the Human Gene Mutation Database (HGMD), this pathogenic variant is associated with macrozoospermia. Altho …
Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parameters.
Coudert A, Cazin C, Amiri-Yekta A, Fourati Ben Mustapha S, Zouari R, Bessonat J, Zoghmar A, Clergeau A, Metzler-Guillemain C, Triki C, Lejeune H, Sermondade N, Pipiras E, Prisant N, Cedrin I, Koscinski I, Keskes L, Lestrade F, Hesters L, Rives N, Dorphin B, Guichet A, Patrat C, Dulioust E, Feraille A, Robert F, Brouillet S, Morel F, Perrin A, Rougier N, Bieth E, Sorlin A, Siffroi JP, Ben Khelifa M, Boiterelle F, Hennebicq S, Satre V, Arnoult C, Coutton C, Barbotin AL, Thierry-Mieg N, Kherraf ZE, Ray PF. Coudert A, et al. J Genet Genomics. 2023 Jul;50(7):536-540. doi: 10.1016/j.jgg.2023.04.007. Epub 2023 Apr 26. J Genet Genomics. 2023. PMID: 37116580 No abstract available.
From azoospermia to macrozoospermia, a phenotypic continuum due to mutations in the ZMYND15 gene.
Kherraf ZE, Cazin C, Lestrade F, Muronova J, Coutton C, Arnoult C, Thierry-Mieg N, Ray PF. Kherraf ZE, et al. Asian J Androl. 2022 May-Jun;24(3):243-247. doi: 10.4103/aja202194. Asian J Androl. 2022. PMID: 35017390 Free PMC article.
A precise genetic diagnosis is obtained for a minority of patients and only for the most severe defects like azoospermia or macrozoospermia which is very often due to defects in the aurora kinase C (AURKC gene. Here, we studied a subject with a severe oligozoospermia and a …
A precise genetic diagnosis is obtained for a minority of patients and only for the most severe defects like azoospermia or macrozoosperm …
Diagnostic genetic screening for assisted reproductive technologies patients with macrozoospermia.
Carmignac V, Dupont JM, Fierro RC, Barberet J, Bruno C, Lieury N, Dulioust E, Auger J, Fauque P. Carmignac V, et al. Andrology. 2017 Mar;5(2):370-380. doi: 10.1111/andr.12311. Epub 2017 Feb 10. Andrology. 2017. PMID: 28187507 Free article.
Macrozoospermia is characterized by a high proportion of abnormal spermatozoa with enlarged heads. ...Although many publications have reported failure to conceive in couples with macrozoospermia, a few others have described successful pregnancies, thus raising quest …
Macrozoospermia is characterized by a high proportion of abnormal spermatozoa with enlarged heads. ...Although many publications have …
Mutational analysis of Aurora kinase C gene in Egyptian patients with macrozoospermia.
Kobesiy MM, Foda BM, Ali OSM, Fahmy I, Ismail SM. Kobesiy MM, et al. Andrologia. 2020 Aug;52(7):e13619. doi: 10.1111/and.13619. Epub 2020 May 12. Andrologia. 2020. PMID: 32399982
Macrozoospermia is a rare syndrome. The key marker of the disease is a high percentage of spermatozoa with abnormal phenotypes namely enlarged head and multiple tails. ...A successful intracytoplasmic sperm injection (ICSI) was achieved only with a severe macrozoospermi …
Macrozoospermia is a rare syndrome. The key marker of the disease is a high percentage of spermatozoa with abnormal phenotypes namely …
Characterization of macrozoospermia-associated AURKC mutations in a mammalian meiotic system.
Fellmeth JE, Ghanaim EM, Schindler K. Fellmeth JE, et al. Hum Mol Genet. 2016 Jul 1;25(13):2698-2711. doi: 10.1093/hmg/ddw128. Epub 2016 Apr 22. Hum Mol Genet. 2016. PMID: 27106102
Aurora kinase C (AURKC) is essential for formation of euploid sperm in humans because mutations in AURKC are correlated with macrozoospermia and these sperm are tetraploid. These mutations are currently the most frequent mutations that cause macrozoospermia and resu …
Aurora kinase C (AURKC) is essential for formation of euploid sperm in humans because mutations in AURKC are correlated with macrozoosper …
Macrozoospermia: screening for the homozygous c.144delC mutation in AURKC gene in infertile men and estimation of its heterozygosity frequency in the Tunisian population.
Ghédir H, Gribaa M, Mamaî O, Ben Charfeddine I, Braham A, Amara A, Mehdi M, Saad A, Ibala-Romdhane S. Ghédir H, et al. J Assist Reprod Genet. 2015 Nov;32(11):1651-8. doi: 10.1007/s10815-015-0565-4. Epub 2015 Sep 4. J Assist Reprod Genet. 2015. PMID: 26341096 Free PMC article.
PURPOSE: Macrozoospermia is a rare condition of male infertility characterized by the presence of close to 100 % large-headed multiflagellar spermatozoa. The homozygous mutation (c.144delC) in aurora kinase C gene (AURKC) has been identified as the most frequent mutation c …
PURPOSE: Macrozoospermia is a rare condition of male infertility characterized by the presence of close to 100 % large-headed multifl …
Compound heterozygosity for novel AURKC mutations in an infertile man with macrozoospermia.
Bai S, Hu X, Zhao Y, Li W, Wan Y, Jin R, Wang Y, Guo T, Tong X, Xu B. Bai S, et al. Andrologia. 2020 Oct;52(9):e13663. doi: 10.1111/and.13663. Epub 2020 Jun 1. Andrologia. 2020. PMID: 32478938
Among causes of infertility, teratozoospermia is characterised by a percentage of morphologically abnormal spermatozoa >4%. Macrozoospermia, one form of monomorphic teratozoospermia, is observed in <1% of cases of male infertility and is described as approximately 10 …
Among causes of infertility, teratozoospermia is characterised by a percentage of morphologically abnormal spermatozoa >4%. Macrozoosp …
Genetic aspects of monomorphic teratozoospermia: a review.
De Braekeleer M, Nguyen MH, Morel F, Perrin A. De Braekeleer M, et al. J Assist Reprod Genet. 2015 Apr;32(4):615-23. doi: 10.1007/s10815-015-0433-2. Epub 2015 Feb 25. J Assist Reprod Genet. 2015. PMID: 25711835 Free PMC article. Review.
Macrozoospermia is defined as the presence of a very high percentage of spermatozoa with enlarged head and multiple flagella. ...Identification of the genetic causes of macrozoospermia and globozoospermia should help refine diagnosis and treatment of these patients, …
Macrozoospermia is defined as the presence of a very high percentage of spermatozoa with enlarged head and multiple flagella. ...Iden …
Whole-exome sequencing identified a novel mutation of AURKC in a Chinese family with macrozoospermia.
Hua J, Wan YY. Hua J, et al. J Assist Reprod Genet. 2019 Mar;36(3):529-534. doi: 10.1007/s10815-018-1374-3. Epub 2018 Dec 29. J Assist Reprod Genet. 2019. PMID: 30594972 Free PMC article.
PURPOSE: Macrozoospermia is a rare sperm morphologic abnormality associated with male infertility and is characterized by a high percentage of spermatozoa with large irregular heads. ...CONCLUSIONS: These results further support the important role of AURKC in male infertil …
PURPOSE: Macrozoospermia is a rare sperm morphologic abnormality associated with male infertility and is characterized by a high perc …
23 results