{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Ullah N"],"funding":["National Science Centre in Poland","National Health and Medical Research Council Project grant","Eunice Kennedy Shriver National Institute of Child Health and Human Development","NIH P50 Specialized Center Grant","NICHD NIH HHS","Khyber medical university faculty research grant","NIGMS NIH HHS"],"pagination":["3723-3735"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12640393"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["42(11)"],"pubmed_abstract":["<h4>Purpose</h4>Human male infertility is a significant reproductive condition, with non-obstructive azoospermia (NOA) being the most severe form, resulting from impaired spermatogenesis. Many genetic variants have been identified as negatively impacting sperm development and maturation at multiple stages, leading to spermatogenic failure (SPGF). Here, we aim to study such variants, particularly those in the critical, highly conserved, meiosis-specific DMC1 (DNA meiotic recombinase 1) gene, to identify genetic candidates for male infertility and to strengthen DMC1's existing genotype-phenotype relationships.<h4>Methods</h4>We used whole exome sequencing (WES) and in silico analysis to investigate select DMC1 variants in a large cohort of infertile sporadic and familial cases (n = 3150).<h4"],"journal":["Journal of assisted reproduction and genetics"],"pubmed_title":["Identification of missense DMC1 variants in males with non-obstructive azoospermia."],"pmcid":["PMC12640393"],"funding_grant_id":["KMU/ORIC/FARE/IPMS/028","GM127569","2015/17/B/NZ2/01157","R01 GM127569","R21 HD080755","HD096723","2017/26/D/NZ5/00789","APP1120356","HD080755","P50 HD096723"],"pubmed_authors":["Malizio M","Castillo-Madeen H","Orwig KE","Nazli R","Hvasta-Gloria R","Khan MJ","Olszewska M","Conrad DF","Malcher A","Inno R","Pombar C","Fatima S","Kurpisz M","Castro CA","Xavier MJ","Veltman JA","Berman AJ","Ullah N","Dutta A","Yatsenko AN","Valkna A","Laan M","Lillepea K","Riera-Escamilla A"],"additional_accession":[]},"is_claimable":false,"name":"Identification of missense DMC1 variants in males with non-obstructive azoospermia.","description":"<h4>Purpose</h4>Human male infertility is a significant reproductive condition, with non-obstructive azoospermia (NOA) being the most severe form, resulting from impaired spermatogenesis. Many genetic variants have been identified as negatively impacting sperm development and maturation at multiple stages, leading to spermatogenic failure (SPGF). Here, we aim to study such variants, particularly those in the critical, highly conserved, meiosis-specific DMC1 (DNA meiotic recombinase 1) gene, to identify genetic candidates for male infertility and to strengthen DMC1's existing genotype-phenotype relationships.<h4>Methods</h4>We used whole exome sequencing (WES) and in silico analysis to investigate select DMC1 variants in a large cohort of infertile sporadic and familial cases (n = 3150).<h4","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Nov","modification":"2026-07-15T13:28:28.002Z","creation":"2026-07-05T03:08:29.06Z"},"accession":"S-EPMC12640393","cross_references":{"pubmed":["40815353"],"doi":["10.1007/s10815-025-03591-6"]}}