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Statements

Subject Item
n2:RIV%2F00216224%3A14740%2F14%3A00078310%21RIV15-MSM-14740___
rdf:type
n19:Vysledek skos:Concept
rdfs:seeAlso
http://onlinelibrary.wiley.com/doi/10.1111/bjh.13006/pdf
dcterms:description
Chronic lymphocytic leukaemia (CLL) is characterized by an extremely variable clinical course, in which deletions of TP53 and ATM , regulators of the DNA-damage response (DDR-) pathway, are powerful predictors for adverse outcome and response to chemotherapy (Dohner et al , 2000). Deletions of chromosome 17p ( TP53 ) and 11q ( ATM ) coincide with TP53 and ATM mutations respectively, however with mark- edly different frequencies (80% and 40% respectively; Mal- cikova et al , 2009; Navrkalova et al , 2013). Sole TP53 mutations and deletions usually lead to TP53 (p53) dysfunc- tion (Mohr et al , 2011) and, in case of deletions in ATM ,a mutation of the residual ATM allele determines whether there is complete ATM inactivation resulting in TP53-dys- function (Navrkalova et al , 2013). Therefore, analysis of mutations in TP53 and ATM genes in addition to fluorescent in situ hybridization (FISH) analysis is of additional clinical value (Skowronska et al , 2012). Chronic lymphocytic leukaemia (CLL) is characterized by an extremely variable clinical course, in which deletions of TP53 and ATM , regulators of the DNA-damage response (DDR-) pathway, are powerful predictors for adverse outcome and response to chemotherapy (Dohner et al , 2000). Deletions of chromosome 17p ( TP53 ) and 11q ( ATM ) coincide with TP53 and ATM mutations respectively, however with mark- edly different frequencies (80% and 40% respectively; Mal- cikova et al , 2009; Navrkalova et al , 2013). Sole TP53 mutations and deletions usually lead to TP53 (p53) dysfunc- tion (Mohr et al , 2011) and, in case of deletions in ATM ,a mutation of the residual ATM allele determines whether there is complete ATM inactivation resulting in TP53-dys- function (Navrkalova et al , 2013). Therefore, analysis of mutations in TP53 and ATM genes in addition to fluorescent in situ hybridization (FISH) analysis is of additional clinical value (Skowronska et al , 2012).
dcterms:title
Assessment of TP53 functionality in chronic lymphocytic leukaemia by different assays; an ERIC-wide approach Assessment of TP53 functionality in chronic lymphocytic leukaemia by different assays; an ERIC-wide approach
skos:prefLabel
Assessment of TP53 functionality in chronic lymphocytic leukaemia by different assays; an ERIC-wide approach Assessment of TP53 functionality in chronic lymphocytic leukaemia by different assays; an ERIC-wide approach
skos:notation
RIV/00216224:14740/14:00078310!RIV15-MSM-14740___
n3:aktivita
n13:P
n3:aktivity
P(ED1.1.00/02.0068), P(NT13493), P(NT13519)
n3:cisloPeriodika
4
n3:dodaniDat
n9:2015
n3:domaciTvurceVysledku
n17:4382749 n17:2093995 n17:4629604 n17:1957864
n3:druhVysledku
n8:J
n3:duvernostUdaju
n5:S
n3:entitaPredkladatele
n11:predkladatel
n3:idSjednocenehoVysledku
4334
n3:idVysledku
RIV/00216224:14740/14:00078310
n3:jazykVysledku
n15:eng
n3:klicovaSlova
chronic lymphocytic leukaemia; TP53 function assays; TP53 axis; TP53; ATM
n3:klicoveSlovo
n4:TP53%20axis n4:TP53%20function%20assays n4:ATM n4:TP53 n4:chronic%20lymphocytic%20leukaemia
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[564EBC7050B8]
n3:nazevZdroje
British journal of haematology
n3:obor
n14:FD
n3:pocetDomacichTvurcuVysledku
4
n3:pocetTvurcuVysledku
17
n3:projekt
n20:NT13493 n20:NT13519 n20:ED1.1.00%2F02.0068
n3:rokUplatneniVysledku
n9:2014
n3:svazekPeriodika
167
n3:tvurceVysledku
Zenz, T. Trbušek, Martin Oers van, A. R. Merle-Beral, H. Pettitt, A. R. Stilgenbauer, S. Stankovic, T. Raa te, Doreen G. Merkel, O. Lin, K. Greil, R. Malčíková, Jitka Eldering, M. H. Mráz, Marek Pospíšilová, Šárka Garff-Tavernier, M. Le Kater, A. P.
n3:wos
000344351200017
s:issn
0007-1048
s:numberOfPages
5
n12:doi
10.1111/bjh.13006
n16:organizacniJednotka
14740