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Two functional forms of the Meckel-Gruber syndrome protein TMEM67 generated by proteolytic cleavage by ADAMTS9 mediate Wnt signaling and ciliogenesis.
Ahmed M, Fischer S, Robert KL, Lange KI, Stuck MW, Best S, Johnson CA, Pazour GJ, Blacque OE, Nandadasa S. Ahmed M, et al. Among authors: pazour gj. bioRxiv [Preprint]. 2024 Sep 5:2024.09.04.611229. doi: 10.1101/2024.09.04.611229. bioRxiv. 2024. Update in: Nat Commun. 2025 May 28;16(1):4946. doi: 10.1038/s41467-025-60294-3. PMID: 39282264 Free PMC article. Updated. Preprint.
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. Among authors: pazour gj. 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: pazour gj. medRxiv [Preprint]. 2023 Feb 26:2023.02.23.23286106. doi: 10.1101/2023.02.23.23286106. medRxiv. 2023. Update in: PLoS Genet. 2023 Jun 14;19(6):e1010796. doi: 10.1371/journal.pgen.1010796. PMID: 36865301 Free PMC article. Updated. Preprint.
143 results