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Page 1
Misprocessing of α -Galactosidase A, Endoplasmic Reticulum Stress, and the Unfolded Protein Response.
Živná M, Dostálová G, Barešová V, Mušálková D, Svojšová K, Meiseles D, Kinstlinger S, Kuchař L, Asfaw B, Poupětová H, Vlášková H, Kmochová T, Vyleťal P, Hartmannová H, Hodaňová K, Stránecký V, Steiner-Mrázová L, Hnízda A, Živný J, Radina M, Votruba M, Sovová J, Trešlová H, Stolnaja L, Reková P, Roblová L, Honsová E, Rychlík I, Dvela-Levitt M, Bleyer AJ, Linhart A, Sikora J, Kmoch S. Živná M, et al. J Am Soc Nephrol. 2024 Nov 12. doi: 10.1681/ASN.0000000535. Online ahead of print. J Am Soc Nephrol. 2024. PMID: 39704415 No abstract available.
Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study.
Kidd KO, Williams AH, Taylor A, Martin L, Robins V, Sayer JA, Olinger E, Mabillard HR, Papagregoriou G, Deltas C, Stavrou C, Conlon PJ, Hogan RE, Elhassan EAE, Springer D, Zima T, Izzi C, Vrbacká A, Piherová L, Pohludka M, Radina M, Vylet'al P, Hodanova K, Zivna M, Kmoch S, Bleyer AJ Sr. Kidd KO, et al. Among authors: zivna m. BMC Nephrol. 2024 Dec 18;25(1):449. doi: 10.1186/s12882-024-03896-1. BMC Nephrol. 2024. PMID: 39696072 Free PMC article.
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: zivna m. J Clin Invest. 2024 Dec 16;134(24):e180347. doi: 10.1172/JCI180347. J Clin Invest. 2024. PMID: 39680459 Free PMC article.
A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis.
Elhassan EAE, Kmochová T, Benson KA, Fennelly NK, Barešová V, Kidd K, Doyle B, Dorman A, Morrin MM, Kyne NC, Vyleťal P, Hartmannová H, Hodaňová K, Sovová J, Mušálková D, Vrbacká A, Přistoupilová A, Živný J, Svojšová K, Radina M, Stránecký V, Loginov D, Pompach P, Novák P, Vaníčková Z, Hansíková H, Rajnochová-Bloudíčková S, Viklický O, Hůlková H, Cavalleri GL, Hnízda A, Bleyer AJ, Kmoch S, Conlon PJ, Živná M. Elhassan EAE, et al. Among authors: zivna m. Kidney Int Rep. 2024 Apr 15;9(7):2209-2226. doi: 10.1016/j.ekir.2024.04.031. eCollection 2024 Jul. Kidney Int Rep. 2024. PMID: 39081747 Free PMC article.
Eight-Fold Increased COVID-19 Mortality in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations: An Observational Study.
Kidd KO, Williams AH, Taylor A, Martin L, Robins V, Sayer JA, Olinger E, Mabillard HR, Papagregoriou G, Deltas C, Stavrou C, Conlon PJ, Hogan RE, Elhassan EAE, Springer D, Zima T, Izzi C, Vrbacká A, Piherová L, Pohludka M, Radina M, Vylet'al P, Hodanova K, Zivna M, Kmoch S, Bleyer AJ. Kidd KO, et al. Among authors: zivna m. medRxiv [Preprint]. 2024 Jul 4:2024.07.03.24309887. doi: 10.1101/2024.07.03.24309887. medRxiv. 2024. PMID: 39006416 Free PMC article. Preprint.
Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis.
Kmochová T, Kidd KO, Orr A, Hnízda A, Hartmannová H, Hodaňová K, Vyleťal P, Naušová K, Brinsa V, Trešlová H, Sovová J, Barešová V, Svojšová K, Vrbacká A, Stránecký V, Robins VC, Taylor A, Martin L, Rivas-Chavez A, Payne R, Bleyer HA, Williams A, Rennke HG, Weins A, Short PJ, Agrawal V, Storsley LJ, Waikar SS, McPhail ED, Dasari S, Leung N, Hewlett T, Yorke J, Gaston D, Geldenhuys L, Samuels M, Levine AP, West M, Hůlková H, Pompach P, Novák P, Weinberg RB, Bedard K, Živná M, Sikora J, Bleyer AJ Sr, Kmoch S. Kmochová T, et al. Among authors: zivna m. Kidney Int. 2024 Apr;105(4):799-811. doi: 10.1016/j.kint.2023.11.021. Epub 2023 Dec 12. Kidney Int. 2024. PMID: 38096951
Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD.
Jorge S, Kidd K, Vylet'al P, Nogueira E, Martin L, Howard K, Barešová V, Hodaňová K, Hnízda A, Moldovan O, Silveira C, Coutinho AM, Lopes JA, Bleyer AJ, Kmoch S, Živná M. Jorge S, et al. Among authors: zivna m. Kidney Int Rep. 2023 Jan 16;8(5):1112-1116. doi: 10.1016/j.ekir.2023.01.017. eCollection 2023 May. Kidney Int Rep. 2023. PMID: 37180515 Free PMC article. No abstract available.
Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family.
de Haan A, van Eerde AM, Eijgelsheim M, Rump P, van der Zwaag B, Hennekam E, Živná M, Kmoch S, Bleyer AJ, Kidd K, Vogt L, Knoers NVAM, de Borst MH. de Haan A, et al. Among authors: zivna m. Kidney Int. 2023 May;103(5):986-989. doi: 10.1016/j.kint.2023.02.021. Epub 2023 Mar 22. Kidney Int. 2023. PMID: 37085259 Free article. No abstract available.
Autosomal dominant tubulointerstitial kidney disease: A review.
Živná M, Kidd KO, Barešová V, Hůlková H, Kmoch S, Bleyer AJ Sr. Živná M, et al. Am J Med Genet C Semin Med Genet. 2022 Sep;190(3):309-324. doi: 10.1002/ajmg.c.32008. Epub 2022 Oct 17. Am J Med Genet C Semin Med Genet. 2022. PMID: 36250282 Free PMC article. Review.
40 results