Zobrazeno 1 - 10
of 41
pro vyhledávání: '"Piotr Gasperowicz"'
Autor:
Doriana Misceo, Lokuliyanage Dona Samudita Senaratne, Inger-Lise Mero, Arvind Y. M. Sundaram, Pål Marius Bjørnstad, Krzysztof Szczałuba, Piotr Gasperowicz, Benjamin Kamien, Bård Nedregaard, Asbjørn Holmgren, Petter Strømme, Eirik Frengen
Publikováno v:
Genes, Vol 14, Iss 11, p 1985 (2023)
Strømme syndrome is an ultra-rare primary ciliopathy with clinical variability. The syndrome is caused by bi-allelic variants in CENPF, a protein with key roles in both chromosomal segregation and ciliogenesis. We report three unrelated patients wit
Externí odkaz:
https://doaj.org/article/63e34196d874492491e09b2cd2449afe
Autor:
Michal Błoch, Piotr Gasperowicz, Sylwester Gerus, Katarzyna Rasiewicz, Arleta Lebioda, Pawel Skiba, Rafal Płoski, Dariusz Patkowski, Pawel Karpiński, Robert Śmigiel
Publikováno v:
Genes, Vol 14, Iss 9, p 1822 (2023)
Esophageal atresia (EA) is the most common malformation of the upper gastrointestinal tract. The estimated incidence of EA is 1 in 3500 births. EA is more frequently observed in boys and in twins. The exact cause of isolated EA remains unknown; a mul
Externí odkaz:
https://doaj.org/article/312f3c1a13434a8a8ee6a58cad9d5892
Autor:
Maciej Grzybek, Krzysztof Flisikowski, Tom Giles, Marta Dyjak, Rafal Ploski, Piotr Gasperowicz, Richard D. Emes, Pawel Lisowski
Publikováno v:
Applied Sciences, Vol 13, Iss 8, p 4798 (2023)
Swine is a common model organism for biomedical research. Epigenetic reprogramming in somatic cell nuclear transfer (SCNT) embryos does not fully recapitulate the natural DNA demethylation events at fertilisation. This study aimed to conduct genome-w
Externí odkaz:
https://doaj.org/article/a0362d5c6b2c42e5a959660a0d5e559f
Autor:
Beata Mrozikiewicz-Rakowska, Ilona Szabłowska-Gadomska, Dominik Cysewski, Stefan Rudziński, Rafał Płoski, Piotr Gasperowicz, Magdalena Konarzewska, Jakub Zieliński, Mateusz Mieczkowski, Damian Sieńko, Tomasz Grzela, Maria Noszczyk, Barbara Paleska, Leszek Czupryniak, Malgorzata Lewandowska-Szumiel
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 2, p 1472 (2023)
Although encouraging results of adipose-derived stem cell (ADSC) use in wound healing are available, the mechanism of action has been studied mainly in vitro and in animals. This work aimed to examine the safety and efficacy of allogenic ADSCs in hum
Externí odkaz:
https://doaj.org/article/be21dad790ad499d948d467f51f2a815
Autor:
Magdalena Klaniewska, Krystian Toczewski, Anna Rozensztrauch, Michal Bloch, Agata Dzielendziak, Piotr Gasperowicz, Ryszard Slezak, Rafał Ploski, Małgorzata Rydzanicz, Robert Smigiel, Dariusz Patkowski
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
The MYCN oncogene encodes a transcription factor belonging to the MYC family. It is primarily expressed in normal developing embryos and is thought to be critical in brain and other neural development. Loss-of-function variants resulting in haploinsu
Externí odkaz:
https://doaj.org/article/5c17636ad65c4694a5c87f7f90539229
Autor:
Agnieszka Stembalska, Małgorzata Rydzanicz, Wojciech Walas, Piotr Gasperowicz, Agnieszka Pollak, Victor Murcia Pienkowski, Mateusz Biela, Magdalena Klaniewska, Zuzanna Gamrot, Ewa Gronska, Rafal Ploski, Robert Smigiel
Publikováno v:
Genes, Vol 13, Iss 5, p 725 (2022)
LAS1L encodes a nucleolar ribosomal biogenesis protein and is also a component of the Five Friends of Methylated CHTOP (5FMC) complex. Mutations in the LAS1L gene can be associated with Wilson–Turner syndrome (WTS) and, much more rarely, severe inf
Externí odkaz:
https://doaj.org/article/a365867d8157468f8cb368c38f2c3989
Autor:
Agnieszka A. Koppolu, Agnieszka Madej-Pilarczyk, Małgorzata Rydzanicz, Joanna Kosińska, Piotr Gasperowicz, Jolanta Dorszewska, Wojciech Kozubski, Barbara Steinborn, Andrzej M. Kochański, Rafał Płoski
Publikováno v:
Folia Neuropathologica, Vol 55, Iss 3, Pp 214-220 (2017)
Collagen VI-related myopathy is a group of disorders affecting skeletal muscles and connective tissue. The most common symptoms are muscle weakness and joint deformities which limit the movement and progress over time. Several forms of collagen VI-re
Externí odkaz:
https://doaj.org/article/a6c94a13295d4e9e8b24b6697e6a8d41
Autor:
Grażyna T. Truszkowska, Zofia T. Bilińska, Angelika Muchowicz, Agnieszka Pollak, Anna Biernacka, Katarzyna Kozar-Kamińska, Piotr Stawiński, Piotr Gasperowicz, Joanna Kosińska, Tomasz Zieliński, Rafał Płoski
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-5 (2017)
Abstract The genetic background of dilated cardiomyopathy is highly heterogeneous, with close to 100 known genes and a number of candidates described to date. Nebulin-related-anchoring protein (NRAP) is an actin-binding cytoskeletal protein expressed
Externí odkaz:
https://doaj.org/article/6446ec4421834fc0878115d8121427e5
Autor:
Magdalena Machnikowska-Sokołowska, Jacek Pilch, Justyna Paprocka, Małgorzata Rydzanicz, Agnieszka Pollak, Joanna Kosińska, Piotr Gasperowicz, Katarzyna Gruszczyńska, Ewa Emich-Widera, Rafał Płoski
Publikováno v:
Brain Sciences, Vol 10, Iss 11, p 869 (2020)
Leukoencephalopathy with calcifications and cysts (LCC) is a triad of neuroradiological symptoms characteristic of Labrune syndrome, which was first described in 1996. For 20 years, the diagnosis was only based on clinical, neuroradiological and hist
Externí odkaz:
https://doaj.org/article/2a91f57239c04607be92f5f49084ad90
Autor:
Robert Śmigiel, Mateusz Biela, Krzysztof Szmyd, Michal Błoch, Elżbieta Szmida, Paweł Skiba, Anna Walczak, Piotr Gasperowicz, Joanna Kosińska, Małgorzata Rydzanicz, Piotr Stawiński, Anna Biernacka, Marzena Zielińska, Waldemar Gołębiowski, Agnieszka Jalowska, Grażyna Ohia, Bożena Głowska, Wojciech Walas, Barbara Królak-Olejnik, Paweł Krajewski, Jolanta Sykut-Cegielska, Maria M. Sąsiadek, Rafał Płoski
Publikováno v:
Journal of Clinical Medicine, Vol 9, Iss 7, p 2220 (2020)
Genetic disorders are the leading cause of infant morbidity and mortality. Due to the large number of genetic diseases, molecular and phenotype heterogeneity and often severe course, these diseases remain undiagnosed. In infants with a suspected acut
Externí odkaz:
https://doaj.org/article/1c631c393a9549f485568ceabd4af306