Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Zofia Varenyiova"'
Autor:
Zofia Varenyiova, Laura S. Rojas-Hernandez, Jacquelyn Spano, Vaclav Capek, Yael Rosenberg-Hasson, Tyson Holmes, Carlos Milla
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-10 (2023)
Abstract Primary ciliary dyskinesia (PCD) is a genetic disorder associated with recurrent and chronic respiratory infections due to functional defects of motile cilia. In this study, we aimed to elucidate inflammatory and proliferative responses in P
Externí odkaz:
https://doaj.org/article/bf07f4aeb5cf40f7a022d641d383522a
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Myhre syndrome is a rare condition caused by a mutation in the SMAD4 gene, which leads to a defective TGF-β/BMP signaling, resulting in the proliferation of abnormal fibrous tissues. Clinically, patients with Myhre syndrome manifest with defects of
Externí odkaz:
https://doaj.org/article/2dbf8beed8654308a5e3fc342b5068b4
Autor:
Andrea Felšöová, Tibor Sloboda, Lukáš Hudec, Miroslav Koblížek, Petr Pohunek, Vendula Martinů, Žofia Varényiová, Simona Kadlecová, Jiří Uhlík
Publikováno v:
Diagnostics, Vol 11, Iss 8, p 1363 (2021)
The ciliary ultrastructure can be damaged in various situations. Such changes include primary defects found in primary ciliary dyskinesia (PCD) and secondary defects developing in secondary ciliary dyskinesia (SCD). PCD is a genetic disease resulting
Externí odkaz:
https://doaj.org/article/2a10fd4a20f940ba92ca983e91560a43
Autor:
Vendula Martinů, Lucie Bořek-Dohalská, Žofia Varényiová, Jiří Uhlík, Václav Čapek, Petr Pohunek, Václav Koucký
Publikováno v:
Diagnostics, Vol 11, Iss 6, p 1088 (2021)
Background: In primary ciliary dyskinesia (PCD) there is no single diagnostic test. Different predictive tools have been proposed to guide referral of high-risk patients for further diagnostic workup. We aimed to test clinical index (CI) on a large u
Externí odkaz:
https://doaj.org/article/35e8e0195f784a489fbcea525df6c6a6