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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: stanislawska sachadyn a. 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.
Folate/homocysteine metabolism and lung cancer risk among smokers.
Stanisławska-Sachadyn A, Borzyszkowska J, Krzemiński M, Janowicz A, Dziadziuszko R, Jassem J, Rzyman W, Limon J. Stanisławska-Sachadyn A, et al. PLoS One. 2019 Apr 2;14(4):e0214462. doi: 10.1371/journal.pone.0214462. eCollection 2019. PLoS One. 2019. PMID: 30939165 Free PMC article.
Mitochondrial DNA levels in Huntington disease leukocytes and dermal fibroblasts.
Jędrak P, Krygier M, Tońska K, Drozd M, Kaliszewska M, Bartnik E, Sołtan W, Sitek EJ, Stanisławska-Sachadyn A, Limon J, Sławek J, Węgrzyn G, Barańska S. Jędrak P, et al. Metab Brain Dis. 2017 Aug;32(4):1237-1247. doi: 10.1007/s11011-017-0026-0. Epub 2017 May 16. Metab Brain Dis. 2017. PMID: 28508341 Free PMC article.
34 results