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@article{1216470, author = {Kmínková, Jana and Mráz, Marek and Zápražná, Kristína and Navrkalová, Veronika and Tichý, Boris and Plevová, Karla and Malčíková, Jitka and Černá, Kateřina and Rausch, Tobias and Beneš, Vladimír and Brychtová, Yvona and Doubek, Michael and Mayer, Jiří and Pospíšilová, Šárka}, article_location = {Oxford}, article_number = {5}, doi = {http://dx.doi.org/10.1093/carcin/bgt396}, keywords = {PAPILLARY THYROID-CARCINOMA; COLORECTAL-CANCER; HEPATOCELLULAR-CARCINOMA; FUNCTIONAL POLYMORPHISM; DROSHA-DGCR8 COMPLEX; EXPRESSION; RNA; RISK; GENES; SURVIVAL}, language = {eng}, issn = {0143-3334}, journal = {Carcinogenesis}, title = {Identification of novel sequence variations in microRNAs in chronic lymphocytic leukemia}, url = {http://carcin.oxfordjournals.org/content/early/2013/12/03/carcin.bgt396.full.pdf+html}, volume = {35}, year = {2014} }
TY - JOUR ID - 1216470 AU - Kmínková, Jana - Mráz, Marek - Zápražná, Kristína - Navrkalová, Veronika - Tichý, Boris - Plevová, Karla - Malčíková, Jitka - Černá, Kateřina - Rausch, Tobias - Beneš, Vladimír - Brychtová, Yvona - Doubek, Michael - Mayer, Jiří - Pospíšilová, Šárka PY - 2014 TI - Identification of novel sequence variations in microRNAs in chronic lymphocytic leukemia JF - Carcinogenesis VL - 35 IS - 5 SP - 992-1002 EP - 992-1002 PB - Oxford University Press SN - 01433334 KW - PAPILLARY THYROID-CARCINOMA KW - COLORECTAL-CANCER KW - HEPATOCELLULAR-CARCINOMA KW - FUNCTIONAL POLYMORPHISM KW - DROSHA-DGCR8 COMPLEX KW - EXPRESSION KW - RNA KW - RISK KW - GENES KW - SURVIVAL UR - http://carcin.oxfordjournals.org/content/early/2013/12/03/carcin.bgt396.full.pdf+html L2 - http://carcin.oxfordjournals.org/content/early/2013/12/03/carcin.bgt396.full.pdf+html N2 - We have analyzed the miRNA sequence variations in patients with CLL and the effect of these variations on their secondary structure and expression.MicroRNA (miRNA) expression is deregulated in many tumors including chronic lymphocytic leukemia (CLL). Although the particular mechanism(s) responsible for their aberrant expression is not well characterized, the presence of mutations and single-nucleotide polymorphisms (SNPs) in miRNA genes, possibly affecting their secondary structure and expression, has been described. In CLL; however, the impact and frequency of such variations have yet to be elucidated. Using a custom resequencing microarray, we screened sequence variations in 109 cancer-related pre-miRNAs in 98 CLL patients. Additionally, the primary regions of miR-29b-2/29c and miR-16-1 were analyzed by Sanger sequencing in another cohort of 213 and 193 CLL patients, respectively. Altogether, we describe six novel miR-sequence variations and the presence of SNPs (n = 27), most of which changed the miR-secondary structure. Moreover, some of the identified SNPs have a significantly different frequency in CLL when compared with a control population. Additionally, we identified a novel variation in miR-16-1 that had not been described previously in CLL patients. We show that this variation affects the expression of mature miR-16-1. We also show that the expression of another miRNA with pathogenetic relevance for CLL, namely miR-29b-2, is influenced by the presence of a polymorphic insertion, which is more frequent in CLL than in a control population. Altogether, these data suggest that sequence variations may occur during CLL development and/or progression. ER -
KMÍNKOVÁ, Jana, Marek MRÁZ, Kristína ZÁPRAŽNÁ, Veronika NAVRKALOVÁ, Boris TICHÝ, Karla PLEVOVÁ, Jitka MALČÍKOVÁ, Kateřina ČERNÁ, Tobias RAUSCH, Vladimír BENEŠ, Yvona BRYCHTOVÁ, Michael DOUBEK, Jiří MAYER a Šárka POSPÍŠILOVÁ. Identification of novel sequence variations in microRNAs in chronic lymphocytic leukemia. \textit{Carcinogenesis}. Oxford: Oxford University Press, roč.~35, č.~5, s.~992-1002. ISSN~0143-3334. doi:10.1093/carcin/bgt396. 2014.
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