Publications by authors named "Pavla Komrskova"
We report the case of a hydrocephalic fetus in which clinical exome sequencing revealed a recurrent synonymous variant of unknown significance, c.453G>T, in the L1CAM gene. This report presents the second case of X-linked hydrocephalus in a fetus with this variant.
View Article and Find Full Text PDFBackground: X-linked nephrogenic diabetes insipidus (NDI) is a rare genetic renal disease caused by pathogenic variants in the AVPR2 gene. Single nucleotide variants and small insertions/deletions in AVPR2 are reliably detected by routine clinical sequencing. Nevertheless, structural variants involving AVPR2 are challenging to identify accurately by conventional genetic testing.
View Article and Find Full Text PDFArticle Synopsis
- Oocyte meiotic maturation and embryogenesis are vital processes in all species, regulated by the management of maternal mRNAs and proteins, particularly during early development.
- The study focused on cytoplasmic polyadenylation element binding protein 2 (CPEB2), examining its expression and localization in porcine oocytes and embryos through various techniques, including qRT-PCR and Western blotting.
- Results indicated that CPEB2 is crucial for oocyte maturation and the production of high-quality embryos, as it supports oocytes reaching the important metaphase II stage and aids in the formation of viable parthenogenetic blastocysts.
Article Synopsis
- - The study investigates how Aurora kinase A affects the phosphorylation of CPEB1, which is essential for regulating mRNA translation during the maturation of oocytes in mammals.
- - Researchers inhibited Aurora kinase A using a specific inhibitor, MLN8237, while observing porcine oocytes' meiotic maturation.
- - Results indicate that inhibiting Aurora kinase A does not impact the polyadenylation of cyclin B1 mRNA or its translation, suggesting this kinase is not crucial for CPEB1 activation.