Projects funded by the NCN
Determination of cytogeneic rearrangements:chromosomal aberrations and uniparental disomy in Barth Syndrome carriers to study the role of tafazzin in the mechanisms of inheritance of a genetic mosaicism
2016/21/N/NZ2/01729
Keywords:
genetic mosaicism tafazzin TAZ gene uniparental disomy chromosomal aberrations bart syndrome mechanisms of inheritance
Descriptors:
- NZ2_5: Cell genetics
- NZ2_1: Molecular genetics
- NZ1_1: Molecular biology
Panel:
NZ2 - Genetics, genomics: molecular genetics, genomics, proteomics, bioinformatics, systems biology, genetic epidemiology
Host institution :
Uniwersytet Jagielloński-Collegium Medicum, Collegium Medicum, Wydział Lekarski
woj. małopolskie
Principal investigator (from the host institution):
Number of co-investigators in the project: 3
Call: PRELUDIUM 11 - announced on 2016-03-15
Amount awarded: 150 000 PLN
Project start date (Y-m-d): 2017-02-27
Project end date (Y-m-d): 2022-02-26
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.
Information in the final report
- Publication in academic press/journals (1)
- Analysis of tafazzin and deoxyribonuclease 1 like 1 transcripts and X chromosome sequencing in the evaluation of the effect of mosaicism in the TAZ gene on phenotypes in a family affected by Barth syndromeAuthors:Teresa Płatek, Maria Sordyl, Anna Polus, Agnieszka Olszanecka, Sławomir Kroczka, Bogdan SolnicaAcademic press:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis (rok: 2023, tom: 826, strony: 45304), Wydawca: ElsevierStatus:PublishedDOI:10.1016/j.mrfmmm.2022.111812 - link to the publication