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

Year Number of Results
1993 4
2003 1
2005 2
2006 1
2007 3
2008 5
2009 3
2010 8
2011 6
2012 7
2013 8
2014 5
2015 6
2016 9
2017 2
2018 14
2019 13
2020 15
2021 10
2022 10
2023 15
2024 4

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123 results

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Page 1
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: kmoch s. Genes Brain Behav. 2024 Feb;23(1):e12882. doi: 10.1111/gbb.12882. Genes Brain Behav. 2024. PMID: 38359179 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: kmoch s. 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
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
MANF stimulates autophagy and restores mitochondrial homeostasis to treat autosomal dominant tubulointerstitial kidney disease in mice.
Kim Y, Li C, Gu C, Fang Y, Tycksen E, Puri A, Pietka TA, Sivapackiam J, Kidd K, Park SJ, Johnson BG, Kmoch S, Duffield JS, Bleyer AJ, Jackrel ME, Urano F, Sharma V, Lindahl M, Chen YM. Kim Y, et al. Among authors: kmoch s. Nat Commun. 2023 Oct 14;14(1):6493. doi: 10.1038/s41467-023-42154-0. Nat Commun. 2023. PMID: 37838725 Free PMC article.
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.
123 results