Searching for mutations in COL4A3, COL4A4 and COL4A5 genes and defining their impact on clinical outcome in a national cohort of Polish families with hematuria with the use of next-generation sequencing technology.
2017/25/N/NZ5/00466
Keywords
Descriptors
- NZ5_1: Etiologia chorób człowieka
- NZ2_1: Genetyka molekularna
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
Voivodeship: pomorskie
Principal investigator (from the host institution)
Number of co-investigators in the project: 3
Call
PRELUDIUM 13 – announced on 2017-03-15
- Amount awarded
- 180 000 PLN
- Project start date
- 2018-03-28
- Project end date
- 2022-03-27
- Project duration
- 48 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 (1)
-
Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife
- Authors:
- Aleksandra M. Żurowska, Olga Bielska, Patrycja Daca-Roszak, Maciej Jankowski, Maria Szczepańska, Dagmara Roszkowska-Bjanid, Elżbieta Kuźma-Mroczkowska, Małgorzata Pańczyk-Tomaszewska, Anna Moczulska, Dorota Drożdż, Despina Hadjipanagi, Constantinos Deltas, Danuta Ostalska-Nowicka, Alina Rabiega, Janina Taraszkiewicz, Katarzyna Taranta-Janusz, Anna Wieczorkiewicz-Plaza, Katarzyna Jobs, Judyta Mews, Kinga Musiał, Anna Jakubowska, Hanna Nosek, Anna E. Jander, Constantina Koutsofti , Anna Stanisławska-Sachadyn, Dominika Kuleszo , Ewa Ziętkiewicz and Beata S. Lipska-Ziętkiewicz
- Academic press:
- Kidney International (year: 2021, volume: 99(6), pages: 1451-1458), Publisher: Elsevier
- Status:
- Published
- DOI:
- 10.1016/j.kint.2020.10.040 – link to the publication