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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. Nat Commun. 2020 Nov 2;11(1):5520. doi: 10.1038/s41467-020-19113-0. Nat Commun. 2020. PMID: 33139725 Free PMC article.
CFAP45 binds AMP in vitro, consistent with structural modelling that identifies an AMP-binding interface between CFAP45 and AK8. Microtubule sliding of dyskinetic sperm from Cfap45(-/-) mice is rescued with the addition of either AMP or ADP with ATP, compared to ATP alone. …
CFAP45 binds AMP in vitro, consistent with structural modelling that identifies an AMP-binding interface between CFAP45 and AK8. Micr …
Co-expression Analysis of Genes and Tumor-Infiltrating Immune Cells in Metastatic Uterine Carcinosarcoma.
Huang R, Sun H, Yan G, Zhang L, Sun W, Zhang J, Yin H, Xian S, Hu P, Yan P, Zhu X, Meng T, Wang J, Huang Z. Huang R, et al. Reprod Sci. 2021 Sep;28(9):2685-2698. doi: 10.1007/s43032-021-00584-5. Epub 2021 Apr 27. Reprod Sci. 2021. PMID: 33905082
Combining gene co-expression and experimental validation results, we propose a potential mechanism of AK8, MPZ, and mast cells activated might play important parts in UCS metastasis....
Combining gene co-expression and experimental validation results, we propose a potential mechanism of AK8, MPZ, and mast cells activa …
Genetic Factors and Long-term Treatment-Related Neurocognitive Deficits, Anxiety, and Depression in Childhood Leukemia Survivors: An Exome-Wide Association Study.
Petrykey K, Lippé S, Sultan S, Robaey P, Drouin S, Affret-Bertout L, Beaulieu P, St-Onge P, Baedke JL, Yasui Y, Hudson MM, Laverdière C, Sinnett D, Krajinovic M. Petrykey K, et al. Cancer Epidemiol Biomarkers Prev. 2024 Feb 6;33(2):234-243. doi: 10.1158/1055-9965.EPI-23-0634. Cancer Epidemiol Biomarkers Prev. 2024. PMID: 38051303
BACKGROUND: An increased risk of neurocognitive deficits, anxiety, and depression has been reported in childhood cancer survivors. METHODS: We analyzed associations of neurocognitive deficits, as well as anxiety and depression, with common and rare genetic variants derived …
BACKGROUND: An increased risk of neurocognitive deficits, anxiety, and depression has been reported in childhood cancer survivors. ME …