Projects funded by the NCN

Information on the principal investigator and host institution

Information of the project and the call

Keywords

Equipment

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Activity evaluation of the LDLR alterations and identification of the novel APOB, STAP1 and LDLRAP1 mutations in patients with familial hypercholesterolemia.

2015/19/B/NZ5/03510

Keywords:

familial hypercholesterolemia LDLR APOB STAP1 LDLRAP1 in vitro studies NGS

Descriptors:

  • NZ5_1: Etiology of human diseases
  • NZ5_3: Pathogenesis of human diseases
  • NZ5_7: Human disease treatment

Panel:

NZ5 - Human and animal noninfectious diseases: etiology, mechanisms, diagnosis and treatment of diseases, poisonings and injuries (without neurological diseases)

Host institution :

Gdański Uniwersytet Medyczny, Wydział Lekarski

woj. pomorskie

Other projects carried out by the institution 

Principal investigator (from the host institution):

dr hab. Bartosz Wasąg 

Number of co-investigators in the project: 4

Call: OPUS 10 - announced on 2015-09-15

Amount awarded: 873 400 PLN

Project start date (Y-m-d): 2016-06-27

Project end date (Y-m-d): 2021-06-26

Project duration:: 60 months (the same as in the proposal)

Project status: Project settled

Project description

Download the project description in a pdf file

Note - project descriptions were prepared by the authors of the applications themselves and placed in the system in an unchanged form.

Equipment purchased [PL]

  1. Komputer stacjonarny (9 000 PLN)
  2. Termocykler (35 000 PLN)
  3. Aparat do elektroforezy (2 szt.) (2 600 PLN)

Information in the final report

  • Publication in academic press/journals (2)
  1. Novel Tools for Comprehensive Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants.
    Authors:
    Jacek Jasiecki, Monika Targońska, Anna Janaszak-Jasiecka, Magdalena Chmara, Monika Żuk, Leszek Kalinowski, Krzysztof Waleron, Bartosz Wasąg
    Academic press:
    International Journal of Molecular Sciences (rok: 2023, tom: 24, strony: 45308), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/ijms241411435 - link to the publication
  2. Higher Responsiveness to Rosuvastatin in Polygenic versus Monogenic Hypercholesterolemia: A Propensity Score Analysis
    Authors:
    A. Mickiewicz, M. Futema, A. Ćwiklinska, A. Kuchta, M. Jankowski, M. Kaszubowski, M. Chmara, B. Wasąg, M. Fijałkowski, M. Jaguszewski, S.E. Humphries, M. Gruchała
    Academic press:
    Life (Basel) (rok: 2020, tom: 10(5):73, strony: 45305), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/life10050073 - link to the publication

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