Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Ewa Zietkiewicz"'
Autor:
Anna Stanisławska-Sachadyn, Michał Krzemiński, Daniel Zielonka, Magdalena Krygier, Ewa Ziętkiewicz, Jarosław Sławek, Janusz Limon, REGISTRY investigators of the European Huntington’s Disease Network (EHDN)
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract Huntington’s disease (HD) is a hereditary neurodegenerative disorder caused by the extension of the CAG repeats in exon 1 of the HTT gene and is transmitted in a dominant manner. The present study aimed to assess whether patients’ sex, i
Externí odkaz:
https://doaj.org/article/db3578da0e7b45379158dc3931e941c0
Publikováno v:
Molecular Medicine, Vol 24, Iss 1, Pp 1-15 (2018)
Abstract Premature termination codons (PTCs) in the coding regions of mRNA lead to the incorrect termination of translation and generation of non-functional, truncated proteins. Translational readthrough of PTCs induced by pharmaceutical compounds is
Externí odkaz:
https://doaj.org/article/53ffacd994da40068c9ffd63191cf2c5
Akademický článek
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Autor:
Patrycja, Daca-Roszak, Joanna, Fiedorowicz, Maciej, Jankowski, Marzanna, Ciesielka, Grzegorz, Teresiński, Beata, Lipska-Zietkiewicz, Ewa, Zietkiewicz, Tomasz, Grzybowski, Katarzyna, Skonieczna
Publikováno v:
Journal of Applied Genetics; 20240101, Issue: Preprints p1-5, 5p
Publikováno v:
International journal of molecular sciences. 23(8)
Primary ciliary dyskinesia (PCD) is a ciliopathy caused by genetically determined impairment of motile cilia–organelles present on the surface of many types of cells [...]
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f112929a53ea2006137c07ea02562c81
https://pubmed.ncbi.nlm.nih.gov/35456939
https://pubmed.ncbi.nlm.nih.gov/35456939
Autor:
Alicja Rabiasz, Ewa Zietkiewicz
Publikováno v:
International Journal of Molecular Sciences. 24:4472
Cilia and flagella are evolutionarily conserved organelles that form protrusions on the surface of many growth-arrested or differentiated eukaryotic cells. Due to the structural and functional differences, cilia can be roughly classified as motile an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0d0cce975ae23fed5da917461077b9dc
https://doi.org/10.3390/ijms24054472
https://doi.org/10.3390/ijms24054472
Background Epigenetics is one of the factors shaping natural variability observed among human populations. A small proportion of heritable inter-population differences are observed in the context of both the genome-wide methylation level and the meth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fb32db96499f369e2f43c74a0462e4cf
https://doi.org/10.21203/rs.3.rs-20643/v1
https://doi.org/10.21203/rs.3.rs-20643/v1
Autor:
Zuzanna, Bukowy-Bieryllo, Alicja, Rabiasz, Maciej, Dabrowski, Andrzej, Pogorzelski, Alina, Wojda, Hanna, Dmenska, Katarzyna, Grzela, Jakub, Sroczynski, Michal, Witt, Ewa, Zietkiewicz
Publikováno v:
Journal of medical genetics. 56(11)
Primary ciliary dyskinesia (PCD) is a motile ciliopathy, whose symptoms include airway infections, male infertility andTo elucidate the role of motile cilia defects in the respiratory phenotype of PCD patients with C-terminal OFD1 mutations.Whole-exo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d9cf8d11121c8ee15a07c1f9ae619eba
https://pubmed.ncbi.nlm.nih.gov/31366608
https://pubmed.ncbi.nlm.nih.gov/31366608
Autor:
Michał Witt, Miron Tokarski, Ewa Ziętkiewicz, Arleta Lebioda, Maria Szczypek, Wojciech Falkowski, Przemysław Mrozowski, Teresa Kulak, Małgorzata Sobieszczańska, Magdalena Mrugalska-Banaszak, Tomasz Jurek, Tadeusz Dobosz
Publikováno v:
Microbial Cell Factories, Vol 21, Iss 1, Pp 1-6 (2022)
Abstract The remains of the heart tissue of Thaddeus Kosciuszko have been investigated as the possible cause of disease and death of the hero of Polish and American nations. Three specimens, DNA isolated from scrappings of wax surface, from the surfa
Externí odkaz:
https://doaj.org/article/a16e43bcf759405e9e22f511ae578f29
Publikováno v:
BMC Genomics, Vol 21, Iss 1, Pp 1-15 (2020)
Abstract Background Epigenetics is one of the factors shaping natural variability observed among human populations. A small proportion of heritable inter-population differences are observed in the context of both the genome-wide methylation level and
Externí odkaz:
https://doaj.org/article/ffdf9ab452b44937bbfd9c8c669f58c9