Zobrazeno 1 - 10
of 56
pro vyhledávání: '"Petr Pohlreich"'
Autor:
Petr Pohlreich, Jana Soukupova, Pavel Dundr, Petra Kleiblova, Martina Zimovjanova, Kamila Vesela, Ales Panczak, Jana Stribrna, Zdenek Kleibl, Marketa Janatova
PDF file - 118K, Supplementary Table S1. PCR and sequencing primers. Supplementary Table S2. Identified missense variants in PALB2 gene not previously reported. Supplementary Table S3. Frequency of mutations in the BRCA1, BRCA2 and PALB2 genes identi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dda5af5a8d68fb9f86a038ea550570e
https://doi.org/10.1158/1055-9965.22436913.v1
https://doi.org/10.1158/1055-9965.22436913.v1
Autor:
Petr Pohlreich, Jana Soukupova, Pavel Dundr, Petra Kleiblova, Martina Zimovjanova, Kamila Vesela, Ales Panczak, Jana Stribrna, Zdenek Kleibl, Marketa Janatova
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30504ff008155e7ed57cff4795856e6c
https://doi.org/10.1158/1055-9965.c.6515625
https://doi.org/10.1158/1055-9965.c.6515625
Autor:
Marketa Janatova, Jana Soukupova, Jana Stribrna, Petra Kleiblova, Michal Vocka, Petra Boudova, Zdenek Kleibl, Petr Pohlreich
Publikováno v:
PLoS ONE, Vol 10, Iss 6, p e0127711 (2015)
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
Externí odkaz:
https://doaj.org/article/92f5a043208e4a8983200b682c0678d3
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:
René H. Medema, Jan Benada, Zdenek Kleibl, Jiri Bartek, Soňa Pecháčková, Libor Macurek, Indra A. Shaltiel, Jan evčík, Pavel Dundr, Petr Pohlreich, Emile E. Voest, Petra Kleiblova
Publikováno v:
The Journal of Cell Biology
Mutations in PPM1D/Wip1 phosphatase impair the DNA damage-induced checkpoint and may predispose cells to tumorigenesis.
The DNA damage response (DDR) pathway and its core component tumor suppressor p53 block cell cycle progression after genotoxi
The DNA damage response (DDR) pathway and its core component tumor suppressor p53 block cell cycle progression after genotoxi
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
Publikováno v:
NeuroMolecular Medicine. 13:204-211
Ataxia telangiectasia (AT) is a genomic instability syndrome characterised, among others, by progressive cerebellar degeneration, oculocutaneous telangiectases, immunodeficiency, elevated serum alpha-phetoprotein level, chromosomal breakage, hypersen
Autor:
Eva Machackova, Marketa Janatova, Petr Pohlreich, Jan Novotny, Lenka Foretova, Jana Soukupova, Zdenek Kleibl, Spiros Tavandzis, Ondrej Havranek, Stanislav Kormunda
Publikováno v:
Journal of Cancer Research and Clinical Oncology. 137:331-338
Carriers of BRCA1/2 mutations are at high lifetime risk of breast cancer (BC); however, the BC onset broadly vary in individual patients. Recently, polyglutamine (poly-Q) repeat length polymorphism of the amplified in breast cancer 1 (AIB1) gene was
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