Zobrazeno 1 - 10
of 126
pro vyhledávání: '"Rafal Płoski"'
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
Akademický článek
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Autor:
Theresa Paulus, Natalie Young, Emily Jessop, Carolin Berwanger, Christoph Stephan Clemen, Rolf Schröder, Rafal Ploski, Christian Hagel, Yorck Hellenbroich, Andreas Moser, Iakowos Karakesisoglou
Publikováno v:
Muscles, Vol 3, Iss 1, Pp 100-109 (2024)
SYNE2 mutations have been associated with skeletal and cardiac muscle diseases, including Emery-Dreifuss muscular dystrophy (EDMD). Here, we present a 70-year-old male patient with muscle pain and elevated serum creatine kinase levels in whom whole-e
Externí odkaz:
https://doaj.org/article/e71a6d2e4cbc420a8756d1031e1da6dd
Autor:
Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David Bell, Kirill R. Butov, Mariasavina Severino, Marcello Niceta, Marcello Scala, Hyun Sik Lee, Taekyeong Yoo, Jimmy Stauffer, Huijie Zhao, Chiara Fiorillo, Marina Pedemonte, Maria C. Diana, Simona Baldassari, Viktoria Zakharova, Anna Shcherbina, Yulia Rodina, Christina Fagerberg, Laura Sønderberg Roos, Jolanta Wierzba, Artur Dobosz, Amanda Gerard, Lorraine Potocki, Jill A. Rosenfeld, Seema R. Lalani, Tiana M. Scott, Daryl Scott, Mahshid S. Azamian, Raymond Louie, Hannah W. Moore, Neena L. Champaigne, Grace Hollingsworth, Annalaura Torella, Vincenzo Nigro, Rafal Ploski, Vincenzo Salpietro, Federico Zara, Simone Pizzi, Giovanni Chillemi, Marzia Ognibene, Erin Cooney, Jenny Do, Anders Linnemann, Martin J. Larsen, Suzanne Specht, Kylie J. Walters, Hee-Jung Choi, Murim Choi, Marco Tartaglia, Phillippe Youkharibache, Jong-Hee Chae, Valeria Capra, Sung-Gyoo Park, Christopher J. Westlake
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
Abstract WDR44 prevents ciliogenesis initiation by regulating RAB11-dependent vesicle trafficking. Here, we describe male patients with missense and nonsense variants within the WD40 repeats (WDR) of WDR44, an X-linked gene product, who display cilio
Externí odkaz:
https://doaj.org/article/af57c8de8d9140e89c63f41fb89329f6
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
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:
Aleksandra Bodetko, Joanna Chrzanowska, Malgorzata Rydzanicz, Agnieszka Borys-Iwanicka, Pawel Karpinski, Joanna Bladowska, Rafal Ploski, Robert Smigiel
Publikováno v:
Genes, Vol 15, Iss 2, p 256 (2024)
Intellectual disability with speech delay and behavioural abnormalities, as well as hypotonia, seizures, feeding difficulties and craniofacial dysmorphism, are the main symptoms associated with pathogenic variants of the ZMYND11 gene. The range of cl
Externí odkaz:
https://doaj.org/article/b954df41148e45dbbeed4d285e5f375c
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