Zobrazeno 1 - 10
of 621
pro vyhledávání: '"Rafał Płoski"'
Autor:
Przemysław Chmielewski, Ilona Kowalik, Grażyna Truszkowska, Ewa Michalak, Joanna Ponińska, Agnieszka Sadowska, Katarzyna Kalin, Krzysztof Jaworski, Ilona Minota, Jolanta Krzysztoń-Russjan, Tomasz Zieliński, Rafał Płoski, Zofia Teresa Bilińska
Publikováno v:
Journal of Clinical Medicine, Vol 13, Iss 11, p 3164 (2024)
Background: LMNA-related dilated cardiomyopathy (LMNA-DCM) caused by mutations in the lamin A/C gene (LMNA) is one of the most common forms of hereditary DCM. Due to the high risk of mutation transmission to offspring and the high incidence of ventri
Externí odkaz:
https://doaj.org/article/6c9c281c517647e0bdea85bb36913889
Autor:
Marta Badeńska, Małgorzata Pac, Andrzej Badeński, Karolina Rutkowska, Justyna Czubilińska-Łada, Rafał Płoski, Nadezda Bohynikova, Maria Szczepańska
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 8, p 4486 (2024)
Idiopathic nephrotic syndrome is the most common chronic glomerular disease in children. Treatment with steroids is usually successful; however, in a small percentage of patients, steroid resistance is observed. The most frequent histologic kidney fe
Externí odkaz:
https://doaj.org/article/f167116cc7324ad0b39e6a09508c69f9
Autor:
Justyna Paprocka, Magdalena Nowak, Magdalena Machnikowska-Sokołowska, Karolina Rutkowska, Rafał Płoski
Publikováno v:
Genes, Vol 15, Iss 3, p 350 (2024)
Introduction: Alexander disease (AxD) is a rare neurodegenerative condition that represents the group of leukodystrophies. The disease is caused by GFAP mutation. Symptoms usually occur in the infantile age with macrocephaly, developmental deteriorat
Externí odkaz:
https://doaj.org/article/d2193360baaa4cba835b407a6982202f
Autor:
Roy H. Stevens, Hongming Zhang, Michal Kajsik, Rafał Płoski, Malgorzata Rydzanicz, Peter Sabaka, Stanislav Šutovský
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
Chronic prostatitis (CP) is a common inflammatory condition of the prostate that is estimated to effect 2%–10% of the world’s male population. It can manifest as perineal, suprapubic, or lower back pain and urinary symptoms occurring with either
Externí odkaz:
https://doaj.org/article/c407b03a446d41799675bec2f36c48ef
Autor:
Justyna Frasuńska, Agnieszka Pollak, Paweł Turczyn, Anna Kutkowska-Kaźmierczak, Jakub Pepłowski, Rafał Płoski, Beata Tarnacka
Publikováno v:
Genes, Vol 15, Iss 1, p 125 (2024)
A disease associated with malfunction of the MYH3 gene is characterised by scoliosis, contractures of the V fingers, knees and elbows, dysplasia of the calf muscles, foot deformity and limb length asymmetry. The aim of this study was to identify the
Externí odkaz:
https://doaj.org/article/ac74bb6719234326aae96d22ee8c04fd
Autor:
Joanna Kulikowska, Anna Jakubiuk-Tomaszuk, Małgorzata Rydzanicz, Rafał Płoski, Jan Kochanowicz, Alina Kulakowska, Katarzyna Kapica-Topczewska
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Variants in the ERCC4 gene have been described to be associated with the following autosomal recessive diseases: xeroderma pigmentosum group F (XPF), xeroderma pigmentosum type F/Cockayne syndrome (XPF/CS), Fanconi anemia complementation group Q (FAN
Externí odkaz:
https://doaj.org/article/45a020790e32472b8fb8aae7e2c6bbd3
Autor:
Joanna Kinga Ponińska, Weronika Pelczar-Płachta, Agnieszka Pollak, Katarzyna Jończyk-Potoczna, Grażyna Truszkowska, Ilona Michałowska, Emilia Szafran, Zofia T. Bilińska, Waldemar Bobkowski, Rafał Płoski
Publikováno v:
Genes, Vol 14, Iss 11, p 1983 (2023)
Familial thoracic aortic aneurysms and dissections may occur as an isolated hereditary trait or as part of connective tissue disorders with Mendelian inheritance, but severe cardiovascular disease in pediatric patients is extremely rare. There is gro
Externí odkaz:
https://doaj.org/article/a7f5f95f8e0a41519c1cc96be188c7ef
Autor:
Anna Kloska, Agata Giełczyk, Tomasz Grzybowski, Rafał Płoski, Sylwester M. Kloska, Tomasz Marciniak, Krzysztof Pałczyński, Urszula Rogalla-Ładniak, Boris A. Malyarchuk, Miroslava V. Derenko, Nataša Kovačević-Grujičić, Milena Stevanović, Danijela Drakulić, Slobodan Davidović, Magdalena Spólnicka, Magdalena Zubańska, Marcin Woźniak
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 20, p 15095 (2023)
Data obtained with the use of massive parallel sequencing (MPS) can be valuable in population genetics studies. In particular, such data harbor the potential for distinguishing samples from different populations, especially from those coming from adj
Externí odkaz:
https://doaj.org/article/a14d390c1a4240f7a49b04ab4b828603
Autor:
Joanna Kinga Ponińska, Zofia Teresa Bilińska, Grażyna Truszkowska, Ewa Michalak, Anna Podgórska, Małgorzata Stępień-Wojno, Przemysław Chmielewski, Anna Lutyńska, Rafał Płoski
Publikováno v:
Journal of Translational Medicine, Vol 20, Iss 1, Pp 1-10 (2022)
Abstract Background The identification of pathogenic variant in patients with thoracic aortic aneurysms and dissections (TAAD) was previously found to be a significant indicator pointing to earlier need for surgical intervention. In order to evaluate
Externí odkaz:
https://doaj.org/article/9c16d1fa51904f1388d4e3a3569c0437
Autor:
Anna Bobrus-Chociej, Agnieszka Pollak, Natalia Kopiczko, Marta Flisiak-Jackiewicz, Rafał Płoski, Dariusz M. Lebensztejn
Publikováno v:
Pediatric Reports, Vol 13, Iss 4, Pp 589-593 (2021)
Celiac disease (CD) has been associated with several genetic and autoimmune disorders, but its association with hereditary fructose intolerance (HFI) is very rare. The possibility of an association between CD and HFI should be considered, especially
Externí odkaz:
https://doaj.org/article/54b7cee06c3d4de0bb00192bfb16ee70