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Page 1
CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.
Dougherty GW, Mizuno K, Nöthe-Menchen T, Ikawa Y, Boldt K, Ta-Shma A, Aprea I, Minegishi K, Pang YP, Pennekamp P, Loges NT, Raidt J, Hjeij R, Wallmeier J, Mussaffi H, Perles Z, Elpeleg O, Rabert F, Shiratori H, Letteboer SJ, Horn N, Young S, Strünker T, Stumme F, Werner C, Olbrich H, Takaoka K, Ide T, Twan WK, Biebach L, Große-Onnebrink J, Klinkenbusch JA, Praveen K, Bracht DC, Höben IM, Junger K, Gützlaff J, Cindrić S, Aviram M, Kaiser T, Memari Y, Dzeja PP, Dworniczak B, Ueffing M, Roepman R, Bartscherer K, Katsanis N, Davis EE, Amirav I, Hamada H, Omran H. Dougherty GW, et al. Among authors: bracht dc. Nat Commun. 2020 Nov 2;11(1):5520. doi: 10.1038/s41467-020-19113-0. Nat Commun. 2020. PMID: 33139725 Free PMC article.
Mutations in TP73 cause impaired mucociliary clearance and lissencephaly.
Wallmeier J, Bracht D, Alsaif HS, Dougherty GW, Olbrich H, Cindric S, Dzietko M, Heyer C, Teig N, Thiels C, Faqeih E, Al-Hashim A, Khan S, Mogarri I, Almannai M, Al Otaibi W, Alkuraya FS, Koerner-Rettberg C, Omran H. Wallmeier J, et al. Among authors: bracht d. Am J Hum Genet. 2021 Jul 1;108(7):1318-1329. doi: 10.1016/j.ajhg.2021.05.002. Epub 2021 Jun 1. Am J Hum Genet. 2021. PMID: 34077761 Free PMC article.
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.
Epting D, Senaratne LDS, Ott E, Holmgren A, Sumathipala D, Larsen SM, Wallmeier J, Bracht D, Frikstad KM, Crowley S, Sikiric A, Barøy T, Käsmann-Kellner B, Decker E, Decker C, Bachmann N, Patzke S, Phelps IG, Katsanis N, Giles R, Schmidts M, Zucknick M, Lienkamp SS, Omran H, Davis EE, Doherty D, Strømme P, Frengen E, Bergmann C, Misceo D. Epting D, et al. Among authors: bracht d. Hum Mutat. 2020 Dec;41(12):2179-2194. doi: 10.1002/humu.24127. Epub 2020 Nov 1. Hum Mutat. 2020. PMID: 33131181 Free PMC article.
Pathogenic variants in CLXN encoding the outer dynein arm docking-associated calcium-binding protein calaxin cause primary ciliary dyskinesia.
Hjeij R, Aprea I, Poeta M, Nöthe-Menchen T, Bracht D, Raidt J, Honecker BI, Dougherty GW, Olbrich H, Schwartz O, Keller U, Nüsse H, Diderich KEM, Vogelberg C, Santamaria F, Omran H. Hjeij R, et al. Among authors: bracht d. Genet Med. 2023 May;25(5):100798. doi: 10.1016/j.gim.2023.100798. Epub 2023 Jan 31. Genet Med. 2023. PMID: 36727596
Pathogenic gene variants in CCDC39, CCDC40, RSPH1, RSPH9, HYDIN, and SPEF2 cause defects of sperm flagella composition and male infertility.
Aprea I, Wilken A, Krallmann C, Nöthe-Menchen T, Olbrich H, Loges NT, Dougherty GW, Bracht D, Brenker C, Kliesch S, Strünker T, Tüttelmann F, Raidt J, Omran H. Aprea I, et al. Among authors: bracht d. Front Genet. 2023 Feb 17;14:1117821. doi: 10.3389/fgene.2023.1117821. eCollection 2023. Front Genet. 2023. PMID: 36873931 Free PMC article.