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Saturation mutagenesis-reinforced functional assays for disease-related genes.
Ma K, Huang S, Ng KK, Lake NJ, Joseph S, Xu J, Lek A, Ge L, Woodman KG, Koczwara KE, Cohen J, Ho V, O'Connor CL, Brindley MA, Campbell KP, Lek M. Ma K, et al. Among authors: o connor cl. Cell. 2024 Nov 14;187(23):6707-6724.e22. doi: 10.1016/j.cell.2024.08.047. Epub 2024 Sep 25. Cell. 2024. PMID: 39326416
Spatial Heterogeneity of Glomerular Phenotypes Affects Kidney Biopsy Findings.
Schaub JA, O'Connor CL, Dailey M, Hlynka AW, Chang Y, Postiff D, Kaffenberger SD, Palapattu GS, Gillespie BW, Hodgin JB, Shedden K, Bitzer M. Schaub JA, et al. Among authors: o connor cl. Kidney360. 2023 Nov 1;4(11):1598-1607. doi: 10.34067/KID.0000000000000283. Epub 2023 Oct 27. Kidney360. 2023. PMID: 37889598 Free PMC article.
Deep Mutational Scanning in Disease-related Genes with Saturation Mutagenesis-Reinforced Functional Assays (SMuRF).
Ma K, Huang S, Ng KK, Lake NJ, Joseph S, Xu J, Lek A, Ge L, Woodman KG, Koczwara KE, Cohen J, Ho V, O'Connor CL, Brindley MA, Campbell KP, Lek M. Ma K, et al. Among authors: o connor cl. bioRxiv [Preprint]. 2024 Jun 25:2023.07.12.548370. doi: 10.1101/2023.07.12.548370. bioRxiv. 2024. Update in: Cell. 2024 Nov 14;187(23):6707-6724.e22. doi: 10.1016/j.cell.2024.08.047 PMID: 37873263 Free PMC article. Updated. Preprint.
SGLT2 inhibitors mitigate kidney tubular metabolic and mTORC1 perturbations in youth-onset type 2 diabetes.
Schaub JA, AlAkwaa FM, McCown PJ, Naik AS, Nair V, Eddy S, Menon R, Otto EA, Demeke D, Hartman J, Fermin D, O'Connor CL, Subramanian L, Bitzer M, Harned R, Ladd P, Pyle L, Pennathur S, Inoki K, Hodgin JB, Brosius FC 3rd, Nelson RG, Kretzler M, Bjornstad P. Schaub JA, et al. Among authors: o connor cl. J Clin Invest. 2023 Mar 1;133(5):e164486. doi: 10.1172/JCI164486. J Clin Invest. 2023. PMID: 36637914 Free PMC article.
Phospholipase Cε insufficiency causes ascending aortic aneurysm and dissection.
Atchison DK, O'Connor CL, Converso-Baran K, Bergin IL, Zhang H, Wang Y, Hartman JR, Ju W, Smrcka AV, Ganesh SK, Bitzer M. Atchison DK, et al. Among authors: o connor cl. Am J Physiol Heart Circ Physiol. 2022 Dec 1;323(6):H1376-H1387. doi: 10.1152/ajpheart.00262.2022. Epub 2022 Nov 11. Am J Physiol Heart Circ Physiol. 2022. PMID: 36367690 Free PMC article.
22 results