Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Pavla Komrsková"'
Autor:
Ivan Šubrt, Tomáš Zavoral, Lukáš Strych, Monika Černá, Markéta Hejnalová, Pavla Komrsková, Jitka Tejcová
Publikováno v:
Human Genome Variation, Vol 11, Iss 1, Pp 1-4 (2024)
Abstract 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
Externí odkaz:
https://doaj.org/article/0477920311324cb1b6923674509fc056
Autor:
Lukáš Strych, Monika Černá, Markéta Hejnalová, Tomáš Zavoral, Pavla Komrsková, Jitka Tejcová, Ibrahim Bitar, Eva Sládková, Josef Sýkora, Ivan Šubrt
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-7 (2024)
Abstract Background 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 cli
Externí odkaz:
https://doaj.org/article/ebd27e127bc444189534dad8a749d4f7
Autor:
Pavla Komrskova, Andrej Susor, Radek Malik, Barbora Prochazkova, Lucie Liskova, Jaroslava Supolikova, Stepan Hladky, Michal Kubelka
Publikováno v:
PLoS ONE, Vol 9, Iss 7, p e101222 (2014)
Regulation of mRNA translation by cytoplasmic polyadenylation is known to be important for oocyte maturation and further development. This process is generally controlled by phosphorylation of cytoplasmic polyadenylation element binding protein 1 (CP
Externí odkaz:
https://doaj.org/article/ef8a16a31d8849f1b5c42934ee968f0a