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Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.
Neřoldová M, Ciara E, Slatinská J, Fraňková S, Lišková P, Kotalová R, Globinovská J, Šafaříková M, Pfeiferová L, Zůnová H, Mrázová L, Stránecký V, Vrbacká A, Fabián O, Sticová E, Skanderová D, Šperl J, Kalousová M, Zima T, Macek M, Pawlowska J, Knisely AS, Kmoch S, Jirsa M. Neřoldová M, et al. Among authors: kmoch s. PLoS One. 2023 Jul 20;18(7):e0288907. doi: 10.1371/journal.pone.0288907. eCollection 2023. PLoS One. 2023. PMID: 37471416 Free PMC article.
Spontaneous nonsense mutation in the tuftelin 1 gene is associated with abnormal hair appearance and amelioration of glucose and lipid metabolism in the rat.
Šilhavý J, Mlejnek P, Šimáková M, Liška F, Malínská H, Marková I, Hüttl M, Miklánková D, Mušálková D, Stránecký V, Kmoch S, Sticová E, Vrbacký M, Mráček T, Pravenec M. Šilhavý J, et al. Among authors: kmoch s. Physiol Genomics. 2024 Jan 1;56(1):65-73. doi: 10.1152/physiolgenomics.00084.2023. Epub 2023 Nov 13. Physiol Genomics. 2024. PMID: 37955133
Genotype is associated with left ventricular reverse remodelling and early events in recent-onset dilated cardiomyopathy.
Kubanek M, Binova J, Piherova L, Krebsova A, Kotrc M, Hartmannova H, Hodanova K, Musalkova D, Stranecky V, Palecek T, Chaloupka A, Grochova I, Krejci J, Petrkova J, Melenovsky V, Kmoch S, Kautzner J. Kubanek M, et al. Among authors: kmoch s. ESC Heart Fail. 2024 Aug 11. doi: 10.1002/ehf2.15009. Online ahead of print. ESC Heart Fail. 2024. PMID: 39129193 Free article.
Haplotype variability in mitochondrial rRNA predisposes to metabolic syndrome.
Pecina P, Čunátová K, Kaplanová V, Puertas-Frias G, Šilhavý J, Tauchmannová K, Vrbacký M, Čajka T, Gahura O, Hlaváčková M, Stránecký V, Kmoch S, Pravenec M, Houštěk J, Mráček T, Pecinová A. Pecina P, et al. Among authors: kmoch s. Commun Biol. 2024 Sep 11;7(1):1116. doi: 10.1038/s42003-024-06819-w. Commun Biol. 2024. PMID: 39261587 Free PMC article.
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: kmoch s. Antioxidants (Basel). 2023 Apr 8;12(4):900. doi: 10.3390/antiox12040900. Antioxidants (Basel). 2023. PMID: 37107275 Free PMC article.
Influence of glycoprotein MUC1 on trafficking of the Ca2+-selective ion channels, TRPV5 and TRPV6, and on in vivo calcium homeostasis.
Al-Bataineh MM, Kinlough CL, Marciszyn A, Lam T, Ye L, Kidd K, Maggiore JC, Poland PA, Kmoch S, Bleyer A, Bain DJ, Montalbetti N, Kleyman TR, Hughey RP, Ray EC. Al-Bataineh MM, et al. Among authors: kmoch s. J Biol Chem. 2023 Mar;299(3):102925. doi: 10.1016/j.jbc.2023.102925. Epub 2023 Jan 20. J Biol Chem. 2023. PMID: 36682497 Free PMC article.
163 results