Projects funded by the NCN

Information on the principal investigator and host institution

Information of the project and the call

Keywords

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Molecular diagnostics of cardiomyopathies using next generation DNA sequencing

2011/01/B/NZ4/03455

Keywords:

cardiomyopathy sudden cardiac death next generation sequencing molecular diagnostics

Descriptors:

  • NZ4_12: Other related subjects
  • NZ2_1: Molecular genetics
  • NZ2_2: Genomics, transcriptomics, epigenomics

Panel:

NZ4 - Biology of tissues, organs and organisms: morphology and functions of animal's and human's systems, organs and organisms, experimental medicine, basics of neurology

Host institution :

Warszawski Uniwersytet Medyczny, I Wydział Lekarski

woj. mazowieckie

Other projects carried out by the institution 

Principal investigator (from the host institution):

dr hab. Rafał Płoski 

Number of co-investigators in the project: 7

Call: OPUS 1 - announced on 2011-03-15

Amount awarded: 499 620 PLN

Project start date (Y-m-d): 2011-12-15

Project end date (Y-m-d): 2014-12-14

Project duration:: 36 months (the same as in the proposal)

Project status: Project settled

Information in the final report

  • Publication in academic press/journals (5)
  • Book publications / chapters in book publications (1)
  1. Variants of the lamin A/C (LMNA) gene in non-valvular atrial fibrillation patients: a possible pathogenic role of the Thr528Met mutation
    Authors:
    Saj M, Dabrowski R, Labib S, Jankowska A, Szperl M, Broda G, Szwed H, Tesson F, Bilinska ZT, Ploski R
    Academic press:
    Mol Diagn Ther (rok: 2012, tom: 16, strony: 99-107), Wydawca: Springer International Publishing
    Status:
    Published
    DOI:
    10.2165/11597540-000000000-00000 - link to the publication
  2. Does p.Q247X in TRIM63 Cause Human Hypertrophic Cardiomyopathy?
    Authors:
    Rafał Płoski, Agnieszka Pollak, Sonja Müller, Maria Franaszczyk, Ewa Michalak, Joanna Kosinska, Piotr Stawinski, Mateusz Spiewak, Hubert Seggewiss, Zofia T. Bilinska
    Academic press:
    Circulation Research (rok: 2014, tom: 114, strony: e2-e5), Wydawca: American Heart Association, Inc.
    Status:
    Published
    DOI:
    10.1161/CIRCRESAHA.114.302662 - link to the publication
  3. The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation
    Authors:
    Franaszczyk M, Bilinska ZT, Sobieszczańska-Małek M, Michalak E, Sleszycka J, Sioma A, Małek ŁA, Kaczmarska D, Walczak E, Włodarski P, Hutnik Ł, Milanowska B, Dzielinska Z, Religa G, Grzybowski J, Zieliński T, Ploski R
    Academic press:
    Journal of Translational Medicine (rok: 2014, tom: 12, strony: 192), Wydawca: Biomed Central
    Status:
    Published
    DOI:
    10.1186/1479-5876-12-192 - link to the publication
  4. A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations
    Authors:
    G Truszkowska, Z Bilińska, J Kosińska, J Śleszycka, M Rydzanicz, M Sobieszczańska-Małek, M Franaszczyk, M Bilińska, P Stawiński E Michalak, ŁA. Małek, P Chmielewski, B Foss-Nieradko, MM Machnicki, T Stokłosa, J Ponińska, Ł Szumowski, J Grzybowski, J Piwoński, W Drygas , T Zieliński, R Płoski
    Academic press:
    BMC Medical Genetics (rok: 2015, tom: 16, strony: 21), Wydawca: Biomed Central
    Status:
    Published
    DOI:
    10.1186/s12881-015-0167-0 - link to the publication
  5. LMNA mutations in Polish patients with dilated cardiomyopathy: prevalence, clinical characteristics, and in vitro studies.
    Authors:
    Saj M, Bilinska ZT, Tarnowska A, Sioma A, Bolongo P, Sobieszczanska-Malek M, Michalak E, Golen D, Mazurkiewicz L, Malek L, Walczak E, Fidzianska A, Grzybowski J, Przybylski A, Zielinski T, Korewicki J, Tesson F, Ploski R
    Academic press:
    BMC Med Genet (rok: 2013, tom: 14, strony: 55), Wydawca: Biomed Central
    Status:
    Published
    DOI:
    10.1186/1471-2350-14-55 - link to the publication
  1. Clinical applications for next generation sequencing in cardiology
    Authors:
    Joanna Ponińska, Rafał Płoski, Zofia T. Bilińska
    Book:
    Clinical Applications for Next Generation Sequencing (rok: 2016, tom: 1, strony: 189-207), Wydawca: Elsevier Academic Press
    Status:
    Published

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