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Loss-of-function variant in chymotrypsin like elastase 3B (CELA3B) is associated with non-alcoholic chronic pancreatitis.
Tóth A, Demcsák A, Zankl F, Oracz G, Unger LS, Bugert P, Laumen H, Párniczky A, Hegyi P, Rosendahl J, Gambin T, Płoski R, Koziel D, Gluszek S, Lindgren F, Löhr JM, Sahin-Tóth M, Witt H, Rygiel AM, Ewers M, Hegyi E. Tóth A, et al. Among authors: ploski r. Pancreatology. 2022 Sep;22(6):713-718. doi: 10.1016/j.pan.2022.06.258. Epub 2022 Jun 23. Pancreatology. 2022. PMID: 35773178 Free PMC article.
Loss of function TRPV6 variants are associated with chronic pancreatitis in nonalcoholic early-onset Polish and German patients.
Oracz G, Zaród M, Ewers M, Laumen H, Gambin T, Kamiński P, Grabowska I, Drożak A, Kwiatkowski S, Wertheim-Tysarowska K, Kołodziejczyk E, Domaszewicz A, Dorożko B, Kosińska J, Głuszek S, Kozieł D, Płoski R, Rosendahl J, Witt H, Drożak J, Rygiel AM. Oracz G, et al. Among authors: ploski r. Pancreatology. 2021 Dec;21(8):1434-1442. doi: 10.1016/j.pan.2021.09.005. Epub 2021 Sep 10. Pancreatology. 2021. PMID: 34538581
Variants in the pancreatic CUB and zona pellucida-like domains 1 (CUZD1) gene in early-onset chronic pancreatitis - A possible new susceptibility gene.
Rygiel AM, Unger LS, Sörgel FL, Masson E, Matsumoto R, Ewers M, Chen JM, Bugert P, Buscail L, Gambin T, Oracz G, Winiewska-Szajewska M, Mianowska A, Poznanski J, Kosińska J, Stawinski P, Płoski R, Koziel D, Gluszek S, Laumen H, Lindgren F, Löhr JM, Orekhova A, Rebours V, Rosendahl J, Párniczky A, Hegyi P, Sasaki A, Kataoka F, Tanaka Y, Hamada S, Sahin-Tóth M, Hegyi E, Férec C, Masamune A, Witt H. Rygiel AM, et al. Among authors: ploski r. Pancreatology. 2022 Jun;22(5):564-571. doi: 10.1016/j.pan.2022.04.015. Epub 2022 May 1. Pancreatology. 2022. PMID: 35589511 Free PMC article.
Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation.
Wertheim-Tysarowska K, Ołdak M, Giza A, Kutkowska-Kaźmierczak A, Sota J, Przybylska D, Woźniak K, Śniegórska D, Niepokój K, Sobczyńska-Tomaszewska A, Rygiel AM, Płoski R, Bal J, Kowalewski C. Wertheim-Tysarowska K, et al. Among authors: ploski r. J Appl Genet. 2016 May;57(2):175-81. doi: 10.1007/s13353-015-0310-9. Epub 2015 Oct 2. J Appl Genet. 2016. PMID: 26432462 Free PMC article.
DNA methylation signature in blood does not predict calendar age in patients with chronic lymphocytic leukemia but may alert to the presence of disease.
Spólnicka M, Zbieć-Piekarska R, Karp M, Machnicki MM, Własiuk P, Makowska Ż, Pięta A, Gambin T, Gasperowicz P, Branicki W, Giannopoulos K, Stokłosa T, Płoski R. Spólnicka M, et al. Among authors: ploski r. Forensic Sci Int Genet. 2018 May;34:e15-e17. doi: 10.1016/j.fsigen.2018.02.004. Epub 2018 Feb 7. Forensic Sci Int Genet. 2018. PMID: 29472117 No abstract available.
475 results