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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Skin-derived cells as a model for studying consequences of mutations in genes causing hereditary retinal dystrophies

2016/23/N/NZ5/02588

Keywords:

ABCA4 gene splice-site mutations skin cells molecular mechanism retinal dystrophies

Descriptors:

  • NZ5_1: Etiology of human diseases
  • NZ5_3: Pathogenesis of human diseases
  • NZ5_5: Diagnostics in human diseases

Panel:

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

Host institution :

Warszawski Uniwersytet Medyczny, I Wydział Lekarski

woj. mazowieckie

Other projects carried out by the institution 

Principal investigator (from the host institution):

dr Aneta Ścieżyńska 

Number of co-investigators in the project: 2

Call: PRELUDIUM 12 - announced on 2016-09-15

Amount awarded: 96 000 PLN

Project start date (Y-m-d): 2017-08-04

Project end date (Y-m-d): 2019-08-03

Project duration:: 24 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.

Information in the final report

  • Publication in academic press/journals (2)
  1. Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles
    Authors:
    Aneta Ścieżyńska, Marta Soszyńska, Michał Komorowski, Anna Podgórska, Natalia Krześniak, Aleksandra Nogowska, Martyna Smolińska, Kamil Szulborski, Jacek P. Szaflik, Bartłomiej Noszczyk, Monika Ołdak, Jacek Malejczyk
    Academic press:
    International Journal of Molecular Sciences (rok: 2020, tom: 21(10), strony: E3430), Wydawca: MDPI Open Access Journals
    Status:
    Published
    DOI:
    10.3390/ijms21103430 - link to the publication
  2. Isolation and culture of human primary keratinocytes—a methods review
    Authors:
    Aneta Ścieżyńska Aleksandra Nogowska Maria Sikorska Justyna Konys Anita Karpińska Michał Komorowski Monika Ołdak Jacek Malejczyk
    Academic press:
    Experimental Dermatology (rok: 2019, ), Wydawca: Wiley Online Library
    Status:
    Published
    DOI:
    10.1111/exd.13860 - link to the publication