Publications by authors named "V Stranecky"
Metabolic syndrome is a growing concern in developed societies and due to its polygenic nature, the genetic component is only slowly being elucidated. Common mitochondrial DNA sequence variants have been associated with symptoms of metabolic syndrome and may, therefore, be relevant players in the genetics of metabolic syndrome. We investigate the effect of mitochondrial sequence variation on the metabolic phenotype in conplastic rat strains with identical nuclear but unique mitochondrial genomes, challenged by high-fat diet.
View Article and Find Full Text PDFArticle Synopsis
- Monoallelic germline pathogenic variants in certain Fanconi anemia genes are known to increase breast and ovarian cancer risk, but the effects of variants in FANCG/XRCC9 remain unclear.
- Researchers found that the frequency of truncating variants in FANCG did not significantly differ between breast cancer, ovarian cancer patients, and controls.
- The study concludes that heterozygous germline FANCG variants are unlikely to play a role in developing breast or ovarian cancer.
Aims: Recent-onset dilated cardiomyopathy (RODCM) is characterized by heterogeneous aetiology and diverse clinical outcomes, with scarce data on genotype-phenotype correlates. Our aim was to correlate individual RODCM genotypes with left ventricular reverse remodelling (LVRR) and clinical outcomes.
Methods And Results: In this prospective study, a total of 386 Czech RODCM patients with symptom duration ≤6 months underwent genetic counselling and whole-exome sequencing (WES).
Article Synopsis
- Identified a new variant (p.R79W) in the ALG5 gene linked to late-onset ADPKD in two Irish families, highlighting its impact on kidney damage and fibrosis.
- Employed whole exome and targeted sequencing along with immunohistochemistry to examine genetic segregation and protein abnormalities in kidney biopsies from affected individuals.
- Found that ALG5 dysfunction disrupts the maturation and transport of uromodulin, leading to changes in kidney structure and function, thereby confirming ALG5's role in late-onset ADPKD.