Zobrazeno 1 - 10
of 250
pro vyhledávání: '"J Stribrna"'
Publikováno v:
Journal of Lipid Research, Vol 33, Iss 10, Pp 1411-1418 (1992)
The relationship between the fractional rate of cholesterol esterification (FERHDL) in very low density lipoprotein (VLDL)- and low density lipoprotein (LDL)-depleted plasma and the particle size distribution of high density lipoproteins (HDL) were s
Externí odkaz:
https://doaj.org/article/a5ae3ad9557a44dfaa2810e76136ddbe
Autor:
Jana Soukupova, Pavel Dundr, Marketa Janatova, Petr Pohlreich, J. Stribrna, Petra Kleiblova, Aleš Panczak, Zdenek Kleibl, Kamila Vesela, Martina Zimovjanova
Publikováno v:
Cancer Epidemiology, Biomarkers & Prevention. 22:2323-2332
Background: Several reports indicate that inherited mutations in the PALB2 gene predispose to breast cancer. However, there is little agreement about the clinical relevance and usefulness of mutation screening in this gene. We analyzed the prevalence
Autor:
Jan Sevcik, Petra Kleiblova, Zdenek Kleibl, Petr Pohlreich, Jan Hojny, Filip Lhota, J. Stribrna, Martin Falk, Jiri Bartek, Zdenek Hodny, Lenka Štefančíková, Lucie Jezkova, Libor Macurek, Marketa Janatova
Publikováno v:
Cellular Signalling. 25:1186-1193
Alternative pre-mRNA splicing is a fundamental post-transcriptional regulatory mechanism. Cancer-specific misregulation of the splicing process may lead to formation of irregular alternative splicing variants (ASVs) with a potentially negative impact
Autor:
Ivana Tichá, Jaroslav Kotlas, Martina Zimovjanova, Michal Zikan, Zdenek Kleibl, Martin Mateju, Petr Pohlreich, J. Stribrna
Publikováno v:
Breast Cancer Research and Treatment. 124:337-347
Large genomic rearrangements (LGR) represent substantial proportion of pathogenic mutations in the BRCA1 gene, whereas the frequency of rearrangements in the BRCA2 gene is low in many populations. We screened for LGRs in BRCA1 and BRCA2 genes by mult
Autor:
J. Stribrna, Petr Pohlreich, Petra Boudova, Zdenek Kleibl, Jana Soukupova, Michal Vocka, Marketa Janatova, Petra Kleiblova
Publikováno v:
PLoS ONE, Vol 10, Iss 6, p e0127711 (2015)
PLoS ONE
PLoS ONE
Recent studies have conferred that the RAD51C and RAD51D genes, which code for the essential proteins involved in homologous recombination, are ovarian cancer (OC) susceptibility genes that may explain genetic risks in high-risk patients. We performe
Autor:
Stanislav Kormunda, Marketa Janatova, Michal Zikan, Petr Pohlreich, Zdenek Kleibl, Pavel Soucek, J. Stribrna, Mateju M, Lubos Petruzelka, Jiri Novotny
Publikováno v:
Neoplasma. 57(3)
The two major susceptibility genes, BRCA1 and BRCA2, are involved in hereditary breast and ovarian cancer syndrome. Early detection of mutation carriers has crucial clinical importance, as it allows identification of women who may benefit from intens
Publikováno v:
Mutation research. 637(1-2)
Initial BRCA1 and BRCA2 analyses conducted in breast and ovarian cancer families were focused on identification of mutations in coding sequences and splicing sites of the genes. Large genomic rearrangements as well as mutations in promoter or untrans
Publikováno v:
Journal of genetics. 84(1)
Ovarian cancer is one of the most severe of oncological diseases. Inherited mutations in cancer susceptibility genes play a causal role in 5-10% of newly diagnosed tumours. BRCA1 and BRCA2 gene alterations are found in the majority of these cases. Th
Autor:
Jan Novotny, Jaroslav Kotlas, Marketa Janatova, Michal Zikan, J. Stribrna, Zdenek Kleibl, Jana Zidovska, Bohuslav Matous, Csilla Szabo, Lubos Petruzelka, Petr Pohlreich
Publikováno v:
Breast Cancer Research
Background Germline mutations in the BRCA1 and BRCA2 genes have been shown to account for the majority of hereditary breast and ovarian cancers. The purpose of our study was to estimate the incidence and spectrum of pathogenic mutations in BRCA1/2 ge
Publikováno v:
European Journal of Cancer. 47:S132-S133