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365 results

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Page 1
Disrupted uromodulin trafficking is rescued by targeting TMED cargo receptors.
Bazua-Valenti S, Brown MR, Zavras J, Riedl Khursigara M, Grinkevich E, Sidhom EH, Keller KH, Racette M, Dvela-Levitt M, Quintanova C, Demirci H, Sewerin S, Goss AC, Lin J, Yoo H, Vaca Jacome AS, Papanastasiou M, Udeshi N, Carr SA, Himmerkus N, Bleich M, Mutig K, Bachmann S, Halbritter J, Kmoch S, Živná M, Kidd K, Bleyer AJ, Weins A, Alper SL, Shaw JL, Kost-Alimova M, Pablo JLB, Greka A. Bazua-Valenti S, et al. Among authors: alper sl. J Clin Invest. 2024 Dec 16;134(24):e180347. doi: 10.1172/JCI180347. J Clin Invest. 2024. PMID: 39680459 Free PMC article.
De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly.
Allington G, Mehta NH, Dennis E, Mekbib KY, Reeves B, Kiziltug E, Chen S, Zhao S, Duy PQ, Saleh M, Ang LC, Fan B, Nelson-Williams C, Moreno-de-Luca A, Haider S, Lifton RP, Alper SL, McGee S, Jin SC, Kahle KT. Allington G, et al. Among authors: alper sl. Brain. 2024 Dec 16:awae395. doi: 10.1093/brain/awae395. Online ahead of print. Brain. 2024. PMID: 39680505
Genetic risk factors for Mesoamerican nephropathy.
Friedman DJ, Leone DA, Amador JJ, Kupferman J, Francey LJ, Lopez-Pilarte D, Lau J, Delgado I, Yih WK, Salinas A, Wang M, Genovese G, Shah S, Kelly J, Tattersfield CF, Raines NH, Amador M, Dias L, Pitsillides A, Ramirez-Rubio O, Amador AG, Cortopassi M, Applebaum KM, Alper SL, Banks AS, McClean MD, Leibler JH, Scammell MK, Dupuis J, Brooks DR. Friedman DJ, et al. Among authors: alper sl. Proc Natl Acad Sci U S A. 2024 Dec 3;121(49):e2404848121. doi: 10.1073/pnas.2404848121. Epub 2024 Nov 25. Proc Natl Acad Sci U S A. 2024. PMID: 39585978
INF2 mutations cause kidney disease through a gain-of-function mechanism.
Subramanian B, Williams S, Karp S, Hennino MF, Jacas S, Lee M, Riella CV, Alper SL, Higgs HN, Pollak MR. Subramanian B, et al. Among authors: alper sl. Sci Adv. 2024 Nov 15;10(46):eadr1017. doi: 10.1126/sciadv.adr1017. Epub 2024 Nov 13. Sci Adv. 2024. PMID: 39536114 Free PMC article.
Activation of PIEZO1 Attenuates Kidney Cystogenesis In Vitro and Ex Vivo.
Fan Q, Hadla M, Peterson Z, Nelson G, Ye H, Wang X, Mardirossian JM, Harris PC, Alper SL, Prakash YS, Beyder A, Torres VE, Chebib FT. Fan Q, et al. Among authors: alper sl. Kidney360. 2024 Nov 1;5(11):1601-1612. doi: 10.34067/KID.0000000598. Epub 2024 Oct 2. Kidney360. 2024. PMID: 39356563 Free article. No abstract available.
365 results