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Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.
Jenkinson EM, Rehman AU, Walsh T, Clayton-Smith J, Lee K, Morell RJ, Drummond MC, Khan SN, Naeem MA, Rauf B, Billington N, Schultz JM, Urquhart JE, Lee MK, Berry A, Hanley NA, Mehta S, Cilliers D, Clayton PE, Kingston H, Smith MJ, Warner TT; University of Washington Center for Mendelian Genomics; Black GC, Trump D, Davis JR, Ahmad W, Leal SM, Riazuddin S, King MC, Friedman TB, Newman WG. Jenkinson EM, et al. Among authors: morell rj. Am J Hum Genet. 2013 Apr 4;92(4):605-13. doi: 10.1016/j.ajhg.2013.02.013. Epub 2013 Mar 28. Am J Hum Genet. 2013. PMID: 23541340 Free PMC article.
TGF-β uncouples glycolysis and inflammation in macrophages and controls survival during sepsis.
Gauthier T, Yao C, Dowdy T, Jin W, Lim YJ, Patiño LC, Liu N, Ohlemacher SI, Bynum A, Kazmi R, Bewley CA, Mitrovic M, Martin D, Morell RJ, Eckhaus M, Larion M, Tussiwand R, O'Shea JJ, Chen W. Gauthier T, et al. Among authors: morell rj. Sci Signal. 2023 Aug 8;16(797):eade0385. doi: 10.1126/scisignal.ade0385. Epub 2023 Aug 8. Sci Signal. 2023. PMID: 37552767 Free PMC article.
GZMK+CD8+ T cells Target A Specific Acinar Cell Type in Sjögren's Disease.
Pranzatelli TJF, Perez P, Ku A, Matuck B, Huynh K, Sakai S, Abed M, Jang SI, Yamada E, Dominick K, Ahmed Z, Oliver A, Wasikowski R, Easter QT, Baer AN, Pelayo E, Khavandgar Z, Kleiner DE, Magone MT, Gupta S, Lessard C, Farris AD, Burbelo PD, Martin D, Morell RJ, Zheng C, Rachmaninoff N, Maldonado-Ortiz J, Qu X, Aure M, Dezfulian MH, Lake R, Teichmann S, Barber DL, Tsoi LC, Sowalsky AG, Tyc KM, Liu J, Gudjonsson J, Byrd KM, Johnson PLF, Chiorini JA, Warner BM. Pranzatelli TJF, et al. Among authors: morell rj. Res Sq [Preprint]. 2024 Jul 11:rs.3.rs-3601404. doi: 10.21203/rs.3.rs-3601404/v1. Res Sq. 2024. PMID: 38196575 Free PMC article. Preprint.
Dinucleotide repeat polymorphism at D14S542.
Carey ML, Liang Y, Barber TD, Morell R, Johnson DH, Cox S, Asher JH Jr, Friedman TB. Carey ML, et al. Hum Mol Genet. 1994 Sep;3(9):1712. doi: 10.1093/hmg/3.9.1712-a. Hum Mol Genet. 1994. PMID: 7833943 No abstract available.
99 results