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132 results

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Diminished DNA binding affinity of DMRT1 caused by heterozygous DM domain mutations is a cause of male infertility.
Marić T, Castillo-Madeen H, Klarić ML, Barišić A, Trgovec-Greif L, Murphy MW, Juchnewitsch AG, Lillepea K, Dutta A, Žunić L, Stendahl AM, Punab M, Pomm K, Mendoza DM, Lopes AM, Šorgić AM, Vugrek O, Gonçalves J, Almstrup K, Aston KI, Belužić R, Ježek D, Bertoša B, Laan M, Bojanac AK, Conrad DF, Barbalić M. Marić T, et al. Among authors: almstrup k. Hum Mol Genet. 2025 Mar 7;34(6):481-491. doi: 10.1093/hmg/ddae197. Hum Mol Genet. 2025. PMID: 39777458
Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management.
Kasak L, Lillepea K, Nagirnaja L, Aston KI, Schlegel PN, Gonçalves J, Carvalho F, Moreno-Mendoza D, Almstrup K, Eisenberg ML, Jarvi KA, O'Bryan MK, Lopes AM, Conrad DF; GEMINI Consortium; Punab M, Laan M. Kasak L, et al. Among authors: almstrup k. Hum Reprod. 2022 Jun 30;37(7):1652-1663. doi: 10.1093/humrep/deac100. Hum Reprod. 2022. PMID: 35535697 Free PMC article.
CCDC89 is required for optimal sperm motility and male fertility in mammals.
O'Bryan MK, Saritas G, Nguyen J, Winge SB, O'Connor AE, Castillo-Madeen H, Conrad DF, Graffeo M, Nosrati R, Dunleavy JEM, Almstrup K, Houston BJ. O'Bryan MK, et al. Among authors: almstrup k. Hum Reprod. 2025 Sep 1;40(9):1616-1628. doi: 10.1093/humrep/deaf126. Hum Reprod. 2025. PMID: 40591933 Free PMC article.
Genotype-specific differences in infertile men due to loss-of-function variants in M1AP or ZZS genes.
Rotte N, Dunleavy JEM, Runkel MD, Bosse L, Fietz D, Pilatz A, Kuss J, Dicke AK, Winge SB, Di Persio S, Ruckert C, Nordhoff V, Schuppe HC, Almstrup K, Kliesch S, Neuhaus N, Stallmeyer B, O'Bryan MK, Tüttelmann F, Friedrich C. Rotte N, et al. Among authors: almstrup k. EMBO Mol Med. 2025 Jun;17(6):1417-1451. doi: 10.1038/s44321-025-00244-0. Epub 2025 May 15. EMBO Mol Med. 2025. PMID: 40374915 Free PMC article.
Identification of genes associated with testicular germ cell tumor susceptibility through a transcriptome-wide association study.
Ugalde-Morales E, Wilf R, Pluta J, Ploner A, Fan M, Damra M, Aben KK, Anson-Cartwright L, Chen C, Cortessis VK, Daneshmand S, Ferlin A, Gamulin M, Gietema JA, Gonzalez-Niera A, Grotmol T, Hamilton RJ, Harland M, Haugen TB, Hauser R, Hildebrandt MAT, Karlsson R, Kiemeney LA, Kim J, Lessel D, Lothe RA, Loveday C, Chanock SJ, McGlynn KA, Meijer C, Nead KT, Nsengimana J, Popovic M, Rafnar T, Richiardi L, Rocca MS, Schwartz SM, Skotheim RI, Stefansson K, Stewart DR, Turnbull C, Vaughn DJ, Winge SB, Zheng T, Monteiro AN, Almstrup K, Kanetsky PA, Nathanson KL, Wiklund F; Testicular Cancer Consortium. Ugalde-Morales E, et al. Among authors: almstrup k. Am J Hum Genet. 2025 Mar 6;112(3):630-643. doi: 10.1016/j.ajhg.2025.01.022. Epub 2025 Feb 24. Am J Hum Genet. 2025. PMID: 39999848 Free PMC article.
Estimating Gene Conversion Tract Length and Rate From PacBio HiFi Data.
Charmouh AP, Porsborg PS, Hansen LT, Besenbacher S, Boeg Winge S, Almstrup K, Hobolth A, Bataillon T, Schierup MH. Charmouh AP, et al. Among authors: almstrup k. Mol Biol Evol. 2025 Feb 3;42(2):msaf019. doi: 10.1093/molbev/msaf019. Mol Biol Evol. 2025. PMID: 39982809 Free PMC article.
132 results