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The chromatin landscape of healthy and injured cell types in the human kidney.
Gisch DL, Brennan M, Lake BB, Basta J, Keller MS, Melo Ferreira R, Akilesh S, Ghag R, Lu C, Cheng YH, Collins KS, Parikh SV, Rovin BH, Robbins L, Stout L, Conklin KY, Diep D, Zhang B, Knoten A, Barwinska D, Asghari M, Sabo AR, Ferkowicz MJ, Sutton TA, Kelly KJ, De Boer IH, Rosas SE, Kiryluk K, Hodgin JB, Alakwaa F, Winfree S, Jefferson N, Türkmen A, Gaut JP, Gehlenborg N, Phillips CL, El-Achkar TM, Dagher PC, Hato T, Zhang K, Himmelfarb J, Kretzler M, Mollah S; Kidney Precision Medicine Project (KPMP); Jain S, Rauchman M, Eadon MT. Gisch DL, et al. Nat Commun. 2024 Jan 10;15(1):433. doi: 10.1038/s41467-023-44467-6. Nat Commun. 2024. PMID: 38199997 Free PMC article.
Participant Experience with Protocol Research Kidney Biopsies in the Kidney Precision Medicine Project.
Victoria-Castro AM, Corona-Villalobos CP, Xu AY, Onul I, Huynh C, Chen SW, Ugwuowo U, Sarkisova N, Dighe AL, Blank KN, Blanc VM, Rose MP, Himmelfarb J, de Boer IH, Tuttle KR, Roberts GV; Kidney Precision Medicine Project. Victoria-Castro AM, et al. Clin J Am Soc Nephrol. 2024 Feb 1;19(2):202-212. doi: 10.2215/CJN.0000000000000334. Epub 2023 Oct 23. Clin J Am Soc Nephrol. 2024. PMID: 37871973
A conserved isoleucine in the binding pocket of RIG-I controls immune tolerance to mitochondrial RNA.
de Regt AK, Anand K, Ciupka K, Bender F, Gatterdam K, Putschli B, Fusshöller D, Hilbig D, Kirchhoff A, Hunkler C, Wolter S, Grünewald A, Wallerath C, Schuberth-Wagner C, Ludwig J, Paeschke K, Bartok E, Hagelueken G, Hartmann G, Zillinger T, Geyer M, Schlee M. de Regt AK, et al. Among authors: bender f. Nucleic Acids Res. 2023 Nov 27;51(21):11893-11910. doi: 10.1093/nar/gkad835. Nucleic Acids Res. 2023. PMID: 37831086 Free PMC article.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, Admard J, Hahn GA, Bartels C, van Os NJH, Horvath R, Chinnery PF, Tiet MY, Hewamadduma C, Hadjivassiliou M, Downes SM, Németh AH, Tofaris GK; Genomics England Research Consortium; Wood NW, Hayer SN, Bender F, Menden B, Cordts I, Klein K, Nguyen HP, Krauss JK, Blahak C, Strom TM, Sturm M, van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H. Park J, et al. Among authors: bender f. Genet Med. 2023 Oct;25(10):100961. doi: 10.1016/j.gim.2023.100961. Epub 2023 Aug 31. Genet Med. 2023. PMID: 37650884 Free article. No abstract available.
396 results