Zobrazeno 1 - 10
of 64
pro vyhledávání: '"Cezary Żekanowski"'
Autor:
Jakub Piotr Fichna, Anna Macias, Marcin Piechota, Michał Korostyński, Anna Potulska-Chromik, Maria Jolanta Redowicz, Cezary Zekanowski
Publikováno v:
Human Genomics, Vol 12, Iss 1, Pp 1-12 (2018)
Abstract Background Limb girdle muscular dystrophies (LGMD) are a group of heterogeneous hereditary myopathies with similar clinical symptoms. Disease onset and progression are highly variable, with an elusive genetic background, and around 50% cases
Externí odkaz:
https://doaj.org/article/678163c3cea44410abb8a209c377c8ed
Autor:
Jakub P. Fichna, Mateusz Chiliński, Anup Kumar Halder, Paweł Cięszczyk, Dariusz Plewczynski, Cezary Żekanowski, Piotr Janik
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 11, p 5758 (2024)
Gilles de la Tourette syndrome (GTS) is a neurodevelopmental psychiatric disorder with complex and elusive etiology with a significant role of genetic factors. The aim of this study was to identify structural variants that could be associated with fa
Externí odkaz:
https://doaj.org/article/b90b7236557f40cf9f35315acffc7bfe
Autor:
Izabela Grzegorczyk-Karolak, Marta Krzemińska, Renata Grąbkowska, Jan Gomulski, Cezary Żekanowski, Katarzyna Gaweda-Walerych
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 2, p 764 (2024)
Methyl jasmonate (MJA), a signaling molecule in stress pathways, can be used to induce secondary metabolite synthesis in plants. The present study examines its effects on the growth of Salvia viridis hairy roots, and the accumulation of bioactive com
Externí odkaz:
https://doaj.org/article/06527c082f7e4ec39e51aca805f941b5
Autor:
Michalina Wężyk, Mariusz Berdyński, Adam Figarski, Magdalena Skrzypczak, Krzysztof Ginalski, Marzena Zboch, Izabela Winkel, Cezary Żekanowski
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 23, p 16999 (2023)
Presenilin 1 (PS1) forms, via its large cytosolic loop, a trimeric complex with N-cadherin and β-catenin, which is a key component of Wnt signaling. PS1 undergoes phosphorylation at 353 and 357 serines upon enhanced activity and elevated levels of t
Externí odkaz:
https://doaj.org/article/3fe44ada59de48ddbcb563865499d60a
Autor:
Agnieszka Piotrowska-Nowak, Krzysztof Safranow, Jakub G. Adamczyk, Ireneusz Sołtyszewski, Paweł Cięszczyk, Katarzyna Tońska, Cezary Żekanowski, Beata Borzemska
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 16, p 12992 (2023)
Energy efficiency is one of the fundamental athletic performance-affecting features of the cell and the organism as a whole. Mitochondrial DNA (mtDNA) variants and haplogroups have been linked to the successful practice of various sports, but despite
Externí odkaz:
https://doaj.org/article/5c86861e5c5f4a0eba7d91238a4cebb0
Autor:
Mariusz Berdyński, Przemysław Miszta, Krzysztof Safranow, Peter M. Andersen, Mitsuya Morita, Sławomir Filipek, Cezary Żekanowski, Magdalena Kuźma-Kozakiewicz
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)
Abstract Mutations in superoxide dismutase 1 gene (SOD1) are linked to amyotrophic lateral sclerosis (ALS), a neurodegenerative disorder predominantly affecting upper and lower motor neurons. The clinical phenotype of ALS shows inter- and intrafamili
Externí odkaz:
https://doaj.org/article/50388986f8c545ef930b779117fa5d70
Autor:
Natalia Szejko, Jakub Piotr Fichna, Krzysztof Safranow, Tomasz Dziuba, Cezary Żekanowski, Piotr Janik
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
BackgroundGilles de la Tourette syndrome (GTS) is a neuropsychiatric disorder of unknown etiology, although a major role of genetic factors has been established. Cannabis-based medicines may alleviate GTS-associated tics and variants of CNR1 gene enc
Externí odkaz:
https://doaj.org/article/46ab2198d22a49ae9a9f041150a303f1
Publikováno v:
PLoS ONE, Vol 10, Iss 8, p e0136754 (2015)
Gilles de la Tourette syndrome (GTS) is a neurodevelopmental disorder characterized by motor and vocal tics. Hyperactivity of dopaminergic transmission is considered a prime abnormality in the pathophysiology of tics. There are reciprocal antagonisti
Externí odkaz:
https://doaj.org/article/2016773d39cb40d4b55eed5f30d7d582
Autor:
Emilia J Sitek, Ewa Narożańska, Beata Pepłońska, Sławomir Filipek, Anna Barczak, Maria Styczyńska, Krzysztof Mlynarczyk, Bogna Brockhuis, Erik Portelius, Dorota Religa, Maria Barcikowska, Jarosław Sławek, Cezary Żekanowski
Publikováno v:
PLoS ONE, Vol 8, Iss 4, p e61074 (2013)
Posterior cortical atrophy is a dementia syndrome with symptoms of cortical visual dysfunction, associated with amyloid plaques and neurofibrillary tangles predominantly affecting visual association cortex. Most patients diagnosed with posterior cort
Externí odkaz:
https://doaj.org/article/97b85122553d461a86a5788abdf22207
Autor:
Mariusz Berdyński, Jan Ludwiczak, Anna Barczak, Maria Barcikowska-Kotowicz, Magdalena Kuźma-Kozakiewicz, Stanisław Dunin-Horkawicz, Cezary Żekanowski, Beata Borzemska
Publikováno v:
Journal of Alzheimer's disease : JAD. 89(4)
Background: Homozygous variants of the TREM2 and TYROBP genes have been shown to be causative for multiple bone cysts and neurodegeneration leading to progressive dementia (NHD, Nasu-Hakola disease). Objective: To determine if biallelic variants of t