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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: biebach l. Nat Commun. 2020 Nov 2;11(1):5520. doi: 10.1038/s41467-020-19113-0. Nat Commun. 2020. PMID: 33139725 Free PMC article.
Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility.
Aprea I, Raidt J, Höben IM, Loges NT, Nöthe-Menchen T, Pennekamp P, Olbrich H, Kaiser T, Biebach L, Tüttelmann F, Horvath J, Schubert M, Krallmann C, Kliesch S, Omran H. Aprea I, et al. Among authors: biebach l. PLoS Genet. 2021 Feb 26;17(2):e1009306. doi: 10.1371/journal.pgen.1009306. eCollection 2021 Feb. PLoS Genet. 2021. PMID: 33635866 Free PMC article.
TRAIL protects the immature lung from hyperoxic injury.
Shahzad T, Chao CM, Hadzic S, Behnke J, Biebach L, Böttcher-Friebertshäuser E, Wilhelm J, Hilgendorff A, Zimmer KP, Morty RE, Bellusci S, Ehrhardt H. Shahzad T, et al. Among authors: biebach l. Cell Death Dis. 2022 Jul 15;13(7):614. doi: 10.1038/s41419-022-05072-5. Cell Death Dis. 2022. PMID: 35840556 Free PMC article.
Pathogenic variants in CFAP46, CFAP54, CFAP74 and CFAP221 cause primary ciliary dyskinesia with a defective C1d projection of the central apparatus.
Wohlgemuth K, Hoersting N, Koenig J, Loges NT, Raidt J, George S, Cindrić S, Schramm A, Biebach L, Lay S, Dougherty GW, Olbrich H, Pennekamp P, Dworniczak B, Omran H. Wohlgemuth K, et al. Among authors: biebach l. Eur Respir J. 2024 Dec 12;64(6):2400790. doi: 10.1183/13993003.00790-2024. Print 2024 Dec. Eur Respir J. 2024. PMID: 39362668 Free PMC article.