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The Tumor-Associated Calcium Signal Transducer 2 (TACSTD2) oncogene is upregulated in pre-cystic epithelial cells revealing a new target for polycystic kidney disease.
Smith AO, Frantz WT, Preval KM, Edwards YJK, Ceol CJ, Jonassen JA, Pazour GJ. Smith AO, et al. medRxiv [Preprint]. 2023 Dec 4:2023.12.04.23299387. doi: 10.1101/2023.12.04.23299387. medRxiv. 2023. Update in: PLoS Genet. 2024 Dec 12;20(12):e1011510. doi: 10.1371/journal.pgen.1011510 PMID: 38106222 Free PMC article. Updated. Preprint.
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
Bakey Z, Cabrera OA, Hoefele J, Antony D, Wu K, Stuck MW, Micha D, Eguether T, Smith AO, van der Wel NN, Wagner M, Strittmatter L, Beales PL, Jonassen JA, Thiffault I, Cadieux-Dion M, Boyes L, Sharif S, Tüysüz B, Dunstheimer D, Niessen HWM, Devine W, Lo CW, Mitchison HM, Schmidts M, Pazour GJ. Bakey Z, et al. Among authors: smith ao. PLoS Genet. 2023 Jun 14;19(6):e1010796. doi: 10.1371/journal.pgen.1010796. eCollection 2023 Jun. PLoS Genet. 2023. PMID: 37315079 Free PMC article.
27 results