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Page 1
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: bleyer aj. 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: bleyer aj. 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.
Mitochondrial ROS Triggers KIN Pathogenesis in FAN1-Deficient Kidneys.
Airik M, Arbore H, Childs E, Huynh AB, Phua YL, Chen CW, Aird K, Bharathi S, Zhang B, Conlon P, Kmoch S, Kidd K, Bleyer AJ, Vockley J, Goetzman E, Wipf P, Airik R. Airik M, et al. Among authors: bleyer aj. Antioxidants (Basel). 2023 Apr 8;12(4):900. doi: 10.3390/antiox12040900. Antioxidants (Basel). 2023. PMID: 37107275 Free PMC article.
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: bleyer aj sr. 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
Increased burden of rare protein-truncating variants in constrained, brain-specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder.
Mušálková D, Přistoupilová A, Jedličková I, Hartmannová H, Trešlová H, Nosková L, Hodaňová K, Bittmanová P, Stránecký V, Jiřička V, Langmajerová M, Woodbury-Smith M, Zarrei M, Trost B, Scherer SW, Bleyer AJ, Vevera J, Kmoch S. Mušálková D, et al. Among authors: bleyer aj. Genes Brain Behav. 2024 Feb;23(1):e12882. doi: 10.1111/gbb.12882. Genes Brain Behav. 2024. PMID: 38359179 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: bleyer aj. 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.
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: bleyer aj. J Clin Invest. 2024 Dec 16;134(24):e180347. doi: 10.1172/JCI180347. J Clin Invest. 2024. PMID: 39680459 Free PMC article.
197 results