Projects funded by the NCN
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:
Alport Syndrome thin basement membrane nephropathy familial hematuria collagen IV genetics Next-generation sequencing Polish patients
Descriptors:
- NZ5_1: Etiology of human diseases
- NZ2_1: Molecular genetics
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
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 (Y-m-d): 2018-03-28
Project end date (Y-m-d): 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 midlifeAuthors: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-ZiętkiewiczAcademic press:Kidney International (rok: 2021, tom: 99(6), strony: 1451-1458), Wydawca: ElsevierStatus:PublishedDOI:10.040 - link to the publication