A novel stop-gain mutation in ARMC2 is associated with multiple morphological abnormalities of the sperm flagella. | A novel stop-gain mutation in ARMC2 is associated with multiple morphological abnormalities of the sperm flagella. Khan I, Dil S, Zhang H, Zhang B, Khan T, Zeb A, Zhou J, Nawaz S, Zubair M, Khan K, Ma H, Shi Q. | 02/26/2022 |
bi-allelic mutations in ARMC2 cause male infertility in humans and mice by inducing a typical "multiple morphological abnormalities of the flagella" phenotype, indicating that this gene is necessary for sperm flagellum structure and assembly | Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice. Coutton C, Martinez G, Kherraf ZE, Amiri-Yekta A, Boguenet M, Saut A, He X, Zhang F, Cristou-Kent M, Escoffier J, Bidart M, Satre V, Conne B, Fourati Ben Mustapha S, Halouani L, Marrakchi O, Makni M, Latrous H, Kharouf M, Pernet-Gallay K, Bonhivers M, Hennebicq S, Rives N, Dulioust E, Touré A, Gourabi H, Cao Y, Zouari R, Hosseini SH, Nef S, Thierry-Mieg N, Arnoult C, Ray PF., Free PMC Article | 11/23/2019 |
Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesInherited genetic variant predisposes to aggressive but not indolent prostate cancer. Xu J, Zheng SL, Isaacs SD, Wiley KE, Wiklund F, Sun J, Kader AK, Li G, Purcell LD, Kim ST, Hsu FC, Stattin P, Hugosson J, Adolfsson J, Walsh PC, Trent JM, Duggan D, Carpten J, Grönberg H, Isaacs WB. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. Vieira AR, McHenry TG, Daack-Hirsch S, Murray JC, Marazita ML. | 01/11/2009 |