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Epithelial Cells of Deep Infiltrating Endometriosis Harbor Mutations in Cancer Driver Genes.
Koppolu A, Maksym RB, Paskal W, Machnicki M, Rak B, Pępek M, Garbicz F, Pełka K, Kuśmierczyk Z, Jacko J, Rydzanicz M, Banach-Orłowska M, Stokłosa T, Płoski R, Malejczyk J, Włodarski PK. Koppolu A, et al. Among authors: rydzanicz m. Cells. 2021 Mar 29;10(4):749. doi: 10.3390/cells10040749. Cells. 2021. PMID: 33805315 Free PMC article.
Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression.
Rydzanicz M, Wachowska M, Cook EC, Lisowski P, Kuźniewska B, Szymańska K, Diecke S, Prigione A, Szczałuba K, Szybińska A, Koppolu A, Murcia Pienkowski V, Kosińska J, Wiweger M, Kostrzewa G, Brzozowska M, Domańska-Pakieła D, Jurkiewicz E, Stawiński P, Gromadka A, Zielenkiewicz P, Demkow U, Dziembowska M, Kuźnicki J, Creamer TP, Płoski R. Rydzanicz M, et al. Eur J Hum Genet. 2019 Jan;27(1):61-69. doi: 10.1038/s41431-018-0254-8. Epub 2018 Sep 25. Eur J Hum Genet. 2019. PMID: 30254215 Free PMC article.
Changes in Nuclear Gene Expression Related to Mitochondrial Function Affect Extracellular Matrix, Collagens, and Focal Adhesion in Keratoconus.
Nowak-Malczewska DM, Karolak JA, Swierkowska J, Jaworska MM, Kulinska KI, Polakowski P, Rydzanicz M, Ploski R, Szaflik JP, Gajecka M. Nowak-Malczewska DM, et al. Among authors: rydzanicz m. Transl Vis Sci Technol. 2021 Sep 1;10(11):6. doi: 10.1167/tvst.10.11.6. Transl Vis Sci Technol. 2021. PMID: 34478492 Free PMC article.
Mutations in proteasome-related genes are associated with thyroid hemiagenesis.
Budny B, Szczepanek-Parulska E, Zemojtel T, Szaflarski W, Rydzanicz M, Wesoly J, Handschuh L, Wolinski K, Piatek K, Niedziela M, Ziemnicka K, Figlerowicz M, Zabel M, Ruchala M. Budny B, et al. Among authors: rydzanicz m. Endocrine. 2017 May;56(2):279-285. doi: 10.1007/s12020-017-1287-4. Epub 2017 Apr 7. Endocrine. 2017. PMID: 28390009 Free PMC article.
186 results