SPATA16 promoter hypermethylation and downregulation in male infertility. | SPATA16 promoter hypermethylation and downregulation in male infertility. Sujit KM, Pallavi S, Singh V, Andrabi SW, Trivedi S, Sankhwar SN, Gupta G, Rajender S. | 10/22/2022 |
Association of CATSPER1, SPATA16 and TEX11 genes polymorphism with idiopathic azoospermia and oligospermia risk in Iranian population. | Association of CATSPER1, SPATA16 and TEX11 genes polymorphism with idiopathic azoospermia and oligospermia risk in Iranian population. Behvarz M, Rahmani SA, Siasi Torbati E, Danaei Mehrabad S, Bikhof Torbati M., Free PMC Article | 04/30/2022 |
Study showed that SPATA16 defects could be associated with an abnormal meiosis leading to a particular morphological sperm defect of double/multiple round-headed and multi-flagella and a higher sperm aneuploidy rate than in case of DPY19L2-defects in classic globozoospermia. | Comparison of sperm morphology and nuclear sperm quality in SPATA16- and DPY19L2-mutated globozoospermic patients. Ghédir H, Braham A, Viville S, Saad A, Ibala-Romdhane S. | 01/11/2020 |
This study demonstrates that Spata16 is indispensable for male fertility in mice, as well as in humans. | Human Globozoospermia-Related Gene Spata16 Is Required for Sperm Formation Revealed by CRISPR/Cas9-Mediated Mouse Models. Fujihara Y, Oji A, Larasati T, Kojima-Kita K, Ikawa M., Free PMC Article | 07/14/2018 |
Mutation of SPATA16 is associated with globozoospermia. | A new mutation identified in SPATA16 in two globozoospermic patients. ElInati E, Fossard C, Okutman O, Ghédir H, Ibala-Romdhane S, Ray PF, Saad A, Hennebicq S, Viville S., Free PMC Article | 03/11/2017 |
Case Report: report of a pregnancy obtained in a man with homozygous SPATA16 mutated globozoospermia. | First successful pregnancy in a globozoospermic patient having homozygous mutation in SPATA16. Karaca N, Yilmaz R, Kanten GE, Kervancioglu E, Solakoglu S, Kervancioglu ME. | 08/30/2014 |
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
Results indicate that NYD-SP12 evolves rapidly in both the human and the chimpanzee lineages, which is likely caused by Darwinian positive selection and/or sexual selection. | Rapid evolution, genetic variations, and functional association of the human spermatogenesis-related gene NYD-SP12. Zhang Q, Zhang F, Chen XH, Wang YQ, Wang WQ, Lin AA, Cavalli-Sforza LL, Jin L, Huo R, Sha JH, Li Z, Su B. | 01/21/2010 |
consanguineous family with three affected brothers, in whom we have identified a homozygous mutation in the spermatogenesis-specific gene SPATA16. This is the first example of a nonsyndromic male infertility condition caused by an autosomal gene defect. | Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia. Dam AH, Koscinski I, Kremer JA, Moutou C, Jaeger AS, Oudakker AR, Tournaye H, Charlet N, Lagier-Tourenne C, van Bokhoven H, Viville S., Free PMC Article | 01/21/2010 |
results suggest that NYD-SP12 is involved in spermatogenesis, and that NYD-SP12-encoded protein might function in the Golgi apparatus | Identification and characterization of a novel human testis-specific Golgi protein, NYD-SP12. Xu M, Xiao J, Chen J, Li J, Yin L, Zhu H, Zhou Z, Sha J. | 01/21/2010 |
study demonstrated NYD-SP12 protein was involved in the formation of the acrosome during spermatogenesis | Gene functional research using polyethylenimine-mediated in vivo gene transfection into mouse spermatogenic cells. Lu L, Lin M, Xu M, Zhou ZM, Sha JH. | 01/21/2010 |