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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 1
2006 2
2007 1
2009 2
2010 2
2011 3
2012 1
2013 3
2014 2
2015 1
2016 3
2018 4
2019 4
2020 3
2021 2
2022 4
2023 3
2024 2

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37 results

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Page 1
Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy.
Dvela-Levitt M, Kost-Alimova M, Emani M, Kohnert E, Thompson R, Sidhom EH, Rivadeneira A, Sahakian N, Roignot J, Papagregoriou G, Montesinos MS, Clark AR, McKinney D, Gutierrez J, Roth M, Ronco L, Elonga E, Carter TA, Gnirke A, Melanson M, Hartland K, Wieder N, Hsu JC, Deltas C, Hughey R, Bleyer AJ, Kmoch S, Živná M, Barešova V, Kota S, Schlondorff J, Heiman M, Alper SL, Wagner F, Weins A, Golub TR, Lander ES, Greka A. Dvela-Levitt M, et al. Among authors: baresova v. Cell. 2019 Jul 25;178(3):521-535.e23. doi: 10.1016/j.cell.2019.07.002. Cell. 2019. PMID: 31348885 Free article.
Autosomal dominant tubulointerstitial kidney disease: A review.
Živná M, Kidd KO, Barešová V, Hůlková H, Kmoch S, Bleyer AJ Sr. Živná M, et al. Among authors: baresova v. 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.
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: baresova v. 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
Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin.
Sicking M, Živná M, Bhadra P, Barešová V, Tirincsi A, Hadzibeganovic D, Hodaňová K, Vyleťal P, Sovová J, Jedličková I, Jung M, Bell T, Helms V, Bleyer AJ, Kmoch S, Cavalié A, Lang S. Sicking M, et al. Among authors: baresova v. Life Sci Alliance. 2022 Jan 21;5(4):e202101150. doi: 10.26508/lsa.202101150. Print 2022 Apr. Life Sci Alliance. 2022. PMID: 35064074 Free PMC article.
More on clinical renal genetics.
Grünfeld JP, Hwu W, Chien Y, Lee N, Chiang S, Dobrovolny R, Huang A, Yeh H, Chao M, Lin S, Kitagawa T, Desnick R, Hsu L, Van Keimpema L, Nevens F, Vanslembrouck R, Van Oijen G, Hoffmann A, Dekker H, De Man R, Drenth J, Alamovitch S, Plaisier E, Favrole P, Prost C, Chen Z, Van Agrmael T, Marro B, Ronco P, Zivna M, Hulkova H, Matignon M, Hodanova K, Vylet'al P, Kalbacova M, Baresova V, Sikora J, Blazkova H, Zivny J, Ivanek R, Stranecky V, Sovova J, Claes K, Lerut E, Fryns J, Hart P, Hart T, Adams J, Pawtowski A, Clemessy M, Gasc J, Gubler M, Antignac C, Elleder M, Kapp K, Grimbert P, Bleyer A, Kmoch S, Brown E, Schlöndorff J, Becker Dj, Tsukaguchi H, Uschinski A, Higgs H, Henderson J, Pollak M. Grünfeld JP, et al. Among authors: baresova v. Clin J Am Soc Nephrol. 2010 Apr;5(4):563-7. doi: 10.2215/CJN.01720210. Epub 2010 Mar 25. Clin J Am Soc Nephrol. 2010. PMID: 20338964 No abstract available.
Mass spectrometric analysis of purine de novo biosynthesis intermediates.
Mádrová L, Krijt M, Barešová V, Václavík J, Friedecký D, Dobešová D, Součková O, Škopová V, Adam T, Zikánová M. Mádrová L, et al. Among authors: baresova v. PLoS One. 2018 Dec 10;13(12):e0208947. doi: 10.1371/journal.pone.0208947. eCollection 2018. PLoS One. 2018. PMID: 30532129 Free PMC article.
Mutations in ANTXR1 cause GAPO syndrome.
Stránecký V, Hoischen A, Hartmannová H, Zaki MS, Chaudhary A, Zudaire E, Nosková L, Barešová V, Přistoupilová A, Hodaňová K, Sovová J, Hůlková H, Piherová L, Hehir-Kwa JY, de Silva D, Senanayake MP, Farrag S, Zeman J, Martásek P, Baxová A, Afifi HH, St Croix B, Brunner HG, Temtamy S, Kmoch S. Stránecký V, et al. Among authors: baresova v. Am J Hum Genet. 2013 May 2;92(5):792-9. doi: 10.1016/j.ajhg.2013.03.023. Epub 2013 Apr 18. Am J Hum Genet. 2013. PMID: 23602711 Free PMC article.
Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations.
Vylet'al P, Kidd K, Ainsworth HC, Springer D, Vrbacká A, Přistoupilová A, Hughey RP, Alper SL, Lennon N, Harrison S, Harden M, Robins V, Taylor A, Martin L, Howard K, Bitar I, Langefeld CD, Barešová V, Hartmannová H, Hodaňová K, Zima T, Živná M, Kmoch S, Bleyer AJ. Vylet'al P, et al. Among authors: baresova v. Am J Nephrol. 2021;52(5):378-387. doi: 10.1159/000515810. Epub 2021 Jun 7. Am J Nephrol. 2021. PMID: 34098564 Free PMC article.
37 results