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Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife.
Żurowska AM, Bielska O, Daca-Roszak P, Jankowski M, Szczepańska M, Roszkowska-Bjanid D, Kuźma-Mroczkowska E, Pańczyk-Tomaszewska M, Moczulska A, Drożdż D, Hadjipanagi D, Deltas C, Ostalska-Nowicka D, Rabiega A, Taraszkiewicz J, Taranta-Janusz K, Wieczorkiewicz-Plaza A, Jobs K, Mews J, Musiał K, Jakubowska A, Nosek H, Jander AE, Koutsofti C, Stanisławska-Sachadyn A, Kuleszo D, Ziętkiewicz E, Lipska-Ziętkiewicz BS. Żurowska AM, et al. Among authors: jankowski m. Kidney Int. 2021 Jun;99(6):1451-1458. doi: 10.1016/j.kint.2020.10.040. Epub 2020 Dec 10. Kidney Int. 2021. PMID: 33309955 Free article.
Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.
Drovandi S, Lipska-Ziętkiewicz BS, Ozaltin F, Emma F, Gulhan B, Boyer O, Trautmann A, Ziętkiewicz S, Xu H, Shen Q, Rao J, Riedhammer KM, Heemann U, Hoefele J, Stenton SL, Tsygin AN, Ng KH, Fomina S, Benetti E, Aurelle M, Prikhodina L, Schijvens AM, Tabatabaeifar M, Jankowski M, Baiko S, Mao J, Feng C, Deng F, Rousset-Rouviere C, Stańczyk M, Bałasz-Chmielewska I, Fila M, Durkan AM, Levart TK, Dursun I, Esfandiar N, Haas D, Bjerre A, Anarat A, Benz MR, Talebi S, Hooman N, Ariceta G; PodoNet Consortium; mitoNET Consortium; CCGKDD Consortium; Schaefer F. Drovandi S, et al. Among authors: jankowski m. Kidney Int. 2022 Sep;102(3):592-603. doi: 10.1016/j.kint.2022.02.040. Epub 2022 Apr 26. Kidney Int. 2022. PMID: 35483523 Free article.
Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency.
Drovandi S, Lipska-Ziętkiewicz BS, Ozaltin F, Emma F, Gulhan B, Boyer O, Trautmann A, Xu H, Shen Q, Rao J, Riedhammer KM, Heemann U, Hoefele J, Stenton SL, Tsygin AN, Ng KH, Fomina S, Benetti E, Aurelle M, Prikhodina L, Schreuder MF, Tabatabaeifar M, Jankowski M, Baiko S, Mao J, Feng C, Liu C, Sun S, Deng F, Wang X, Clavé S, Stańczyk M, Bałasz-Chmielewska I, Fila M, Durkan AM, Levart TK, Dursun I, Esfandiar N, Haas D, Bjerre A, Anarat A, Benz MR, Talebi S, Hooman N, Ariceta G; PodoNet Consortium; mitoNET Consortium; CCGKDD Consortium; Schaefer F. Drovandi S, et al. Among authors: jankowski m. Kidney Int. 2022 Sep;102(3):604-612. doi: 10.1016/j.kint.2022.04.029. Epub 2022 May 25. Kidney Int. 2022. PMID: 35643375 Free article.
Correction to: The effect of library preparation protocol on the efficiency of heteroplasmy detection in mitochondrial DNA using two massively parallel sequencing Illumina systems.
Daca-Roszak P, Fiedorowicz J, Jankowski M, Ciesielka M, Teresiński G, Lipska-Ziętkiewicz B, Ziętkiewicz E, Grzybowski T, Skonieczna K. Daca-Roszak P, et al. Among authors: jankowski m. J Appl Genet. 2024 Apr 13. doi: 10.1007/s13353-024-00864-1. Online ahead of print. J Appl Genet. 2024. PMID: 38609674 No abstract available.
The effect of library preparation protocol on the efficiency of heteroplasmy detection in mitochondrial DNA using two massively parallel sequencing Illumina systems.
Daca-Roszak P, Fiedorowicz J, Jankowski M, Ciesielka M, Teresiński G, Lipska-Zietkiewicz B, Zietkiewicz E, Grzybowski T, Skonieczna K. Daca-Roszak P, et al. Among authors: jankowski m. J Appl Genet. 2023 Dec 19. doi: 10.1007/s13353-023-00821-4. Online ahead of print. J Appl Genet. 2023. PMID: 38110828
Editorial: Podocyte Pathology and Nephropathy.
Lewko B, Welsh GI, Jankowski M. Lewko B, et al. Among authors: jankowski m. Front Endocrinol (Lausanne). 2015 Sep 17;6:145. doi: 10.3389/fendo.2015.00145. eCollection 2015. Front Endocrinol (Lausanne). 2015. PMID: 26441835 Free PMC article. No abstract available.
An automated computational data pipeline to rapidly acquire, score, and rank toxicological data for ecological hazard assessment.
Schaupp CM, Byrne G, Chan M, Haggard DE, Hazemi M, Jankowski MD, LaLone CA, LaTier A, Mattingly KZ, Olker JH, Renner J, Sharma B, Villeneuve DL. Schaupp CM, et al. Among authors: jankowski md. Integr Environ Assess Manag. 2024 May 16. doi: 10.1002/ieam.4945. Online ahead of print. Integr Environ Assess Manag. 2024. PMID: 38752675
789 results