Correlation between AK7 rs2275554 and male infertility in 421 Vietnamese individuals
Authors
DOI: https://doi.org/10.15625/2615-9023/16665Keywords:
Male infertility, AK7, Vietnam, PCR-RFLP.References
Core Team R., 2020. R: A language and environment for statistical computing. R Foundation for Statistical Computing, Vienna, Austria. https://www.r-project.org.
Agarwal A., Mulgund A., Hamada A., Chyatte M. R., 2015. A unique view on male infertility around the globe. Reprod Biol Endocrinol, 13: 37. https://doi.org/10.1186/s12958-015-0032-1
Ben Khelifa M., Coutton C., Zouari R., Karaouzene T., Rendu J., Bidart M., Yassine S., Pierre V., Delaroche J., Hennebicq S., Grunwald D., Escalier D., Pernet-Gallay K., Jouk P. S., Thierry-Mieg N., Toure A., Arnoult C., Ray P. F., 2014. Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella. Am J Hum Genet, 94(1): 95–104. https://doi.org/10.1016/j.ajhg.2013.11.017
Carnegie G. K., Means C. K., Scott J. D., 2009. A-kinase anchoring proteins: from protein complexes to physiology and disease. IUBMB Life, 61(4): 394–406. https://doi.org/10.1002/iub.168
Curi S. M., Ariagno J. I., Chenlo P. H., Mendeluk G. R., Pugliese M. N., Sardi Segovia L. M., Repetto H. E., Blanco A. M., 2003. Asthenozoospermia: analysis of a large population. Arch Androl, 49(5): 343–349. https://doi.org/10.1080/01485010390219656
Durairajanayagam D., 2018. Lifestyle causes of male infertility. Arab J Urol, 16(1): 10–20. https://doi.org/10.1016/j.aju.2017.12.004
Fernandez-Gonzalez A., Kourembanas S., Wyatt T. A., Mitsialis S. A., 2009. Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. Am J Respir Cell Mol Biol, 40(3): 305–313. https://doi.org/10.1165/rcmb.2008-0102OC
Graffelman J., 2015. Exploring Diallelic Genetic Markers: The HardyWeinberg Package. Journal of Statistical Software, 64(3): 1–23. https://www.jstatsoft.org/ index.php/jss/article/view/v064i03
Kumar N. ,Singh A. K., 2015. Trends of male factor infertility, an important cause of infertility: A review of literature. J Hum Reprod Sci, 8(4): 191–196. https://doi.org/10.4103/0974-1208.170370
Leigh M. W., Horani A., Kinghorn B., O’Connor M. G., Zariwala M. A., Knowles M. R., 2019. Primary Ciliary Dyskinesia (PCD): A genetic disorder of motile cilia. Transl Sci Rare Dis, 4(1–2): 51–75. https://doi.org/10.3233/TRD-190036
Leslie S. W., Siref L. E., Soon-Sutton T. L., Khan M. A. B., 2021. Male Infertility. in StatPearls: Treasure Island (FL).
Lores P., Coutton C., El Khouri E., Stouvenel L., Givelet M., Thomas L., Rode B., Schmitt A., Louis B., Sakheli Z., Chaudhry M., Fernandez-Gonzales A., Mitsialis A., Dacheux D., Wolf J. P., Papon J. F., Gacon G., Escudier E., Arnoult C., Bonhivers M., Savinov S. N., Amselem S., Ray P. F., Dulioust E., Toure A., 2018. Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia. Hum Mol Genet, 27(7): 1196–1211. https://doi.org/10.1093/hmg/ddy034
Lores P., Dacheux D., Kherraf Z. E., Nsota Mbango J. F., Coutton C., Stouvenel L., Ialy-Radio C., Amiri-Yekta A., Whitfield M., Schmitt A., Cazin C., Givelet M., Ferreux L., Fourati Ben Mustapha S., Halouani L., Marrakchi O., Daneshipour A., El Khouri E., Do Cruzeiro M., Favier M., Guillonneau F., Chaudhry M., Sakheli Z., Wolf J. P., Patrat C., Gacon G., Savinov S. N., Hosseini S. H., Robinson D. R., Zouari R., Ziyyat A., Arnoult C., Dulioust E., Bonhivers M., Ray P. F., Toure A., 2019. Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility. Am J Hum Genet, 105(6): 1148–1167. https://doi.org/10.1016/j.ajhg.2019.10.007
Mata M., Lluch-Estelles J., Armengot M., Sarrion I., Carda C., Cortijo J., 2012. New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. Am J Rhinol Allergy, 26(4): 260–264. https://doi.org/10.2500/ajra.2012.26.3784
Nsota Mbango J. F., Coutton C., Arnoult C., Ray P. F., Toure A., 2019. Genetic causes of male infertility: snapshot on morphological abnormalities of the sperm flagellum. Basic Clin Androl, 29: 2. https://doi.org/10.1186/s12610-019-0083-9
Panayiotou C., Solaroli N., Xu Y., Johansson M., Karlsson A., 2011. The characterization of human adenylate kinases 7 and 8 demonstrates differences in kinetic parameters and structural organization among the family of adenylate kinase isoenzymes. Biochem J, 433(3): 527–534. https://doi.org/10.1042/BJ20101443
Rentzsch P., Schubach M., Shendure J., Kircher M., 2021. CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores. Genome Medicine, 13(1): 31. https://doi.org/10.1186/s13073-021-00835-9
Ringers C., Olstad E. W., Jurisch-Yaksi N., 2020. The role of motile cilia in the development and physiology of the nervous system. Philos Trans R Soc Lond B Biol Sci, 375(1792): 20190156. https://doi.org/10.1098/rstb.2019.0156
Sironen A., Shoemark A., Patel M., Loebinger M. R., Mitchison H. M., 2020. Sperm defects in primary ciliary dyskinesia and related causes of male infertility. Cell Mol Life Sci, 77(11): 2029–2048. https://doi.org/10.1007/s00018-019-033 89-7
Tomas J. Aragon, Michael P. Fay, Daniel Wollschlaeger, Omidpanah A., 2020. Epitools: Epidemiology Tools. R package version 0.5-10.1. https://CRAN.R-project.org/package=epitools.
Vadnais M. L., Cao W., Aghajanian H. K., Haig-Ladewig L., Lin A. M., Al-Alao O., Gerton G. L., 2014. Adenine nucleotide metabolism and a role for AMP in modulating flagellar waveforms in mouse sperm. Biol Reprod, 90(6): 128. https://doi.org/10.1095/biolreprod.113.114447
Wang W. L., Tu C. F., Tan Y. Q., 2020. Insight on multiple morphological abnormalities of sperm flagella in male infertility: what is new? Asian J Androl, 22(3): 236–245. https://doi.org/10.4103/aja.aja_53_19
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