prof. dr hab. n. med. Ewa Ziętkiewicz
Publications
Analyses of 1,236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.
Raidt J, Riepenhausen S, Pennekamp P, Olbrich H, Amirav I, Athanazio RA, Aviram M, Balinotti JE, Bar-On O, Bode SF, Boon M, Borrelli M, Carr SB, Crowley S, Dehlink E, Diepenhorst S, Durdik P, Dworniczak B, Emiralioğlu N, Erdem E, Fonnesu R, Gracci S, Große-Onnebrink J, Gwozdziewicz K, Haarman EG, Hansen CR, Hogg C, Holgersen MG, Kerem E, Körner RW, Kötz K, Kouis P, Loebinger MR, Lorent N, Lucas JS, Maj D, Mall MA, Marthin JK, Martinu V, Mazurek H, Mitchison HM, Nöthe-Menchen T, Özçelik U, Pifferi M, Pogorzelski A, Ringshausen FC, Roehmel JF, Rovira-Amigo S, Rumman N, Schlegtendal A, Shoemark A, Sperstad Kennelly S, Staar BO, Sutharsan S, Thomas S, Ullmann N, Varghese J, von Hardenberg S, Walker WT, Wetzke M, Witt M, Yiallouros P, Zschocke A, Ziętkiewicz E, Nielsen KG, Omran H
Eur Respir J, 2024 Aug 8, 64 (2): 2301769, 15 str., doi: 10.1183/13993003.01769-2023, Epub 2024 Jun 13IF-16.6 MNiSW-200
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, Ciecielka M, Teresiński G, Lipska-Ziętkiewicz B, Ziętkiewicz E, Grzybowski T, Skonieczna K
J Appl Genetics,2024 65 (3): 559-563, doi.10.1007/s13353-023-00821-4, Epub 2023 Dec 19IF-2.0 MNiSW-140
Sex contribution to average age at onset of Huntington's disease depends on the number of (CAG)n repeats
Stanisławska-Sachadyn A., Krzemiński M , Zielonka D , Krygier M , Ziętkiewicz E , Sławek J , Limon J
Scientific Reports volume 14, Article number: 15729 (2024), DOI: 10.1038/s41598-024-64105-5IF-3,8 MNiSW-140
Estimation of the Age of the Kashubian-Specific Pathogenic NPHS2 Variant Responsible for Hereditary Steroid-Resistant Nephrotic Syndrome Points to Its Recent Local Origin.
Jankowski M, Daca-Roszak P, Bałasz-Chmielewska J, Ustaszewski A, Żurowska A, Lipska-Ziętkiewiz BS, Ziętkiewicz E
Human Mutation, 2024, Article ID 8205102, 9 pages, https://doi.org/10.1155/2024/8205102IF-3.3 MNiSW-140
Genetyczna różnorodność współczesnych populacji ludzkich.
Ziętkiewicz E, Daca-Roszak P
W: Genetyka medyczny i molekularna, pod red. J. Bala, Rozdział 4, PWN, ISBN: 978-83-01-23089-0, 2023, str. 47-67.MNiSW-80
Schmidtea mediterranea as a Model Organism to Study the Molecular Background of Human Motile Ciliopathies.
Rabiasz A, Ziętkiewicz E
Int J Mol Sci (MDPI), 2023, 24, 4472, doi: 10.3390/ijms24054472IF-5.6 MNiSW-140
Pierwotna dyskineza rzęsek: podłoże molekularne i genetyczne oraz wskazania dla nowoczesnej diagnostyki.
Ziętkiewicz E, Witt M
W: Genetyka w chorobach układu oddechowego. Wybrane zagadnienia (pod. Red. A. Jezela-Stanek i J. Chrosotwska-Wynimko, PZWL, Warszawa 2022; ISBN: 978-83-200-6612-8MNiSW-80
The hero of American and Polish nations: a molecular look at Thaddeus Kosciuszko’s cause of death suggests a contribution of endocarditis caused by Cutibacterium acnes infection.
Witt M, Tokarski M, Ziętkiewicz E, Lebioda A, Szczypek M, Falkowski W, Mrozowski P, Kulak T, Sobieszczańska M, Mrugalska-Banaszak M, Jurek T, Dobosz T
Microb Cell Fact. 2022 Nov 23;21(1):245. doi: 10.1186/s12934-022-01970-7. PMID: 36419091IF-6,352 MNiSW-100
Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants.
Jankowski M, Daca‑Roszak P, Obracht‑Prondzyński C, Płoski R, Lipska‑Ziętkiewicz BS, Ziętkiewicz E
J Applied Genetics, 2022 Dec, 63 (4): 691-702, https://doi.org/10.1007/s13353-022-00713-z Epub 2022 Aug 15IF-2,653 MNiSW-140
Editorial: Perspectives for Primary Ciliary Dyskinesia. This article belongs to the Special Issue on “Primary Ciliary Dyskinesis: Genetics, Molecular Mechanisms Diagnostic and Therapeutic Perspectives”,
Bukowy-Bieryłło Z, Witt M, Ziętkiewicz E
Int J Mol Sci (MDPI) 2022, 23 (8), 4122; 4 strony, doi.org/10.3390/ijms23084122IF-5,924 MNiSW-140
All publications
Awards
mgr Alicja Rabiasz
prof. dr hab. n. med. Michał Witt
prof. dr hab. n. med. Ewa Ziętkiewicz
Gold Helix
Poster titled "Schmidtea mediterranea as a model organism to study novel genes potentially involved in primary ciliary dyskinesia pathogenesis" presented by Alicja Rabiasz, Michał Witt, Ewa Ziętkiewicz, was awarded a "Gold Helix" by the Polish Human Genetics Association during IXth Convention of Polish Human Genetics Association in Bydgoszcz
dr n. med. Maciej Dąbrowski
dr hab. n. med. i n. o zdr. Zuzanna Bukowy-Bieryłło
prof. dr hab. n. med. Michał Witt
prof. dr hab. n. med. Ewa Ziętkiewicz
Award for the poster
Poster: "Translational suppression of premature termination codons in selected genes involved in primary ciliary dyskinesia". Paris, France, 26-30.04.2016 r.
dr hab. n. med. i n. o zdr. Zuzanna Bukowy-Bieryłło
dr n. med. Maciej Dąbrowski
prof. dr hab. n. med. Michał Witt
prof. dr hab. n. med. Ewa Ziętkiewicz
Gold Helix
Poster title: „Application of translational readthrough of premature termination codons (PTCs) in primary ciliary dyskinesia pathogenesis” Dabrowski M, Bukowy-Bieryllo Z, Witt M, Zietkiewicz E, presented in session: "Selected genetic disorders in paediatrics, internal medicine, neurology and psychiatry"
dr n. med. Maciej Dąbrowski
dr hab. n. med. i n. o zdr. Zuzanna Bukowy-Bieryłło
prof. dr hab. n. med. Michał Witt
prof. dr hab. n. med. Ewa Ziętkiewicz
“Golden Helix"
For the poster “Use of translational readthrough of premature STOP codons (PTC readthrough) in pathogenesis of primary ciliary dyskinesia” (IV Polish Genetics Congress, Poznań, 10-13 September 2013).
