Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Maria Franaszczyk"'
Autor:
Joanna Zakrzewska‐Koperska, Zofia T. Bilińska, Grażyna T. Truszkowska, Maria Franaszczyk, Waldemar Elikowski, Grzegorz Warmiński, Katarzyna Kalin, Piotr Urbanek, Robert Bodalski, Michał Orczykowski, Łukasz Szumowski, Rafał Płoski, Maria Bilińska
Publikováno v:
ESC Heart Failure, Vol 7, Iss 6, Pp 4326-4335 (2020)
Abstract SCN5A gene mutations are described in 2% of patients with dilated cardiomyopathy (DCM) and different rhythm disturbances, including multifocal ectopic Purkinje‐related premature contractions. Recent data indicate that sodium channel blocke
Externí odkaz:
https://doaj.org/article/9feb0a2f755e45abb217607ddc24d72f
Autor:
Joanna Zakrzewska-Koperska, Maria Franaszczyk, Zofia Bilińska, Grażyna Truszkowska, Małgorzata Karczmarz, Łukasz Szumowski, Tomasz Zieliński, Rafał Płoski, Maria Bilińska
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-7 (2018)
Abstract Background Mutations of the SCN5A gene are reported in 2-4% of patients with dilated cardiomyopathy (DCM). In such cases, DCM is associated with different rhythm disturbances such as the multifocal ectopic Purkinje-related premature contract
Externí odkaz:
https://doaj.org/article/41bbbe30f94c4b549549505b61a0d2a1
Autor:
Przemysław Chmielewski, Grażyna Truszkowska, Ilona Kowalik, Małgorzata Rydzanicz, Ewa Michalak, Małgorzata Sobieszczańska-Małek, Maria Franaszczyk, Piotr Stawiński, Małgorzata Stępień-Wojno, Artur Oręziak, Michał Lewandowski, Przemysław Leszek, Maria Bilińska, Tomasz Zieliński, Rafał Płoski, Zofia T. Bilińska
Publikováno v:
Diagnostics, Vol 12, Iss 1, p 13 (2021)
Titin truncating variants (TTNtv) are known as the leading cause of inherited dilated cardiomyopathy (DCM). Nevertheless, it is unclear whether circulating cardiac biomarkers are helpful in detection and risk assessment. We sought to assess 1) early
Externí odkaz:
https://doaj.org/article/54e9724ff6f042be80dc9073f8cf5bb3
Autor:
Przemyslaw Chmielewski, Ewa Michalak, Ilona Kowalik, Maria Franaszczyk, Malgorzata Sobieszczanska-Malek, Grazyna Truszkowska, Malgorzata Stepien-Wojno, Elzbieta Katarzyna Biernacka, Bogna Foss-Nieradko, Michal Lewandowski, Artur Oreziak, Maria Bilinska, Mariusz Kusmierczyk, Frédérique Tesson, Jacek Grzybowski, Tomasz Zielinski, Rafal Ploski, Zofia T. Bilinska
Publikováno v:
Journal of Clinical Medicine, Vol 9, Iss 5, p 1443 (2020)
Mutations in the lamin A/C gene are variably phenotypically expressed; however, it is unclear whether circulating cardiac biomarkers are helpful in the detection and risk assessment of cardiolaminopathies. We sought to assess (1) clinical characteris
Externí odkaz:
https://doaj.org/article/098b4540deed4c4ea0890e230bac6712
Autor:
Maria Franaszczyk, Grazyna Truszkowska, Przemyslaw Chmielewski, Malgorzata Rydzanicz, Joanna Kosinska, Tomasz Rywik, Anna Biernacka, Mateusz Spiewak, Grazyna Kostrzewa, Malgorzata Stepien-Wojno, Piotr Stawinski, Maria Bilinska, Pawel Krajewski, Tomasz Zielinski, Anna Lutynska, Zofia T. Bilinska, Rafal Ploski
Publikováno v:
Journal of Clinical Medicine, Vol 9, Iss 2, p 370 (2020)
The vast majority of cardiomyopathies have an autosomal dominant inheritance; hence, genetic testing is typically offered to patients with a positive family history. A de novo mutation is a new germline mutation not inherited from either parent. The
Externí odkaz:
https://doaj.org/article/8d356d9db69843e7b45a7dddeb65b28e
Autor:
Maria Franaszczyk, Przemyslaw Chmielewski, Grazyna Truszkowska, Piotr Stawinski, Ewa Michalak, Malgorzata Rydzanicz, Malgorzata Sobieszczanska-Malek, Agnieszka Pollak, Justyna Szczygieł, Joanna Kosinska, Adam Parulski, Tomasz Stoklosa, Agnieszka Tarnowska, Marcin M Machnicki, Bogna Foss-Nieradko, Malgorzata Szperl, Agnieszka Sioma, Mariusz Kusmierczyk, Jacek Grzybowski, Tomasz Zielinski, Rafal Ploski, Zofia T Bilinska
Publikováno v:
PLoS ONE, Vol 12, Iss 1, p e0169007 (2017)
TTN gene truncating variants are common in dilated cardiomyopathy (DCM), although data on their clinical significance is still limited. We sought to examine the frequency of truncating variants in TTN in patients with DCM, including familial DCM (FDC
Externí odkaz:
https://doaj.org/article/a7449ce52b3946ebbf1c3eeabdef0c62
Autor:
Anna Szpakowicz, Marek Kiliszek, Witold Pepinski, Ewa Waszkiewicz, Maria Franaszczyk, Malgorzata Skawronska, Rafal Ploski, Anna Niemcunowicz-Janica, Beata Burzynska, Dorota Tulacz, Agata Maciejak, Marcin Jakub Kaminski, Grzegorz Opolski, Wlodzimierz Jerzy Musial, Karol Adam Kaminski
Publikováno v:
PLoS ONE, Vol 10, Iss 6, p e0129820 (2015)
The rs12526453 (C/G) is a single nucleotide polymorphism in an intron of the PHACTR1 gene (phosphatase and actin regulator 1). The C allele is associated with increased risk of coronary artery disease in an unknown mechanism. We investigated its asso
Externí odkaz:
https://doaj.org/article/617119898743425a8fa3d177f2bd5ade
Autor:
Anna Szpakowicz, Marek Kiliszek, Witold Pepinski, Ewa Waszkiewicz, Maria Franaszczyk, Małgorzata Skawronska, Rafal Ploski, Anna Niemcunowicz-Janica, Sławomir Dobrzycki, Grzegorz Opolski, Włodzimierz Jerzy Musial, Karol Adam Kaminski
Publikováno v:
PLoS ONE, Vol 9, Iss 8, p e104635 (2014)
ObjectiveThe rs10757278, rs1333049 and rs4977574 are single nucleotide polymorphisms (SNPs) of chromosome 9p21 locus associated with a prevalence of acute coronary syndromes (ACS). Reports concerning their association with long-term outcome after an
Externí odkaz:
https://doaj.org/article/e3ff2e391f20463aaad88d3d6fdfc73a
Autor:
Marek Kiliszek, Maria Franaszczyk, Edward Kozluk, Piotr Lodzinski, Agnieszka Piatkowska, Grażyna Broda, Rafal Ploski, Grzegorz Opolski
Publikováno v:
PLoS ONE, Vol 6, Iss 7, p e21790 (2011)
BackgroundGenome-wide studies have shown that polymorphisms on chromosome 4q25, 16q22 and 1q21 correlate with atrial fibrillation (AF). However, the distribution of these polymorphisms differs significantly among populations.ObjectiveTo test the poly
Externí odkaz:
https://doaj.org/article/e490e2cfe8bc4a078e83efe7039baf6f
Autor:
Rafał Płoski, Oliver J Brand, Beata Jurecka-Lubieniecka, Maria Franaszczyk, Dorota Kula, Paweł Krajewski, Muhammad A Karamat, Matthew J Simmonds, Jayne A Franklyn, Stephen C L Gough, Barbara Jarząb, Tomasz Bednarczuk
Publikováno v:
PLoS ONE, Vol 5, Iss 11, p e15512 (2010)
The thyroid stimulating hormone receptor (TSHR) gene is an established susceptibility locus for Graves' disease (GD), with recent studies refining association to two single nucleotide polymorphisms (SNPs), rs179247 and rs12101255, within TSHR intron
Externí odkaz:
https://doaj.org/article/30c432246e954350b2912d8eb92a24b5