About: Assessment of TP53 functionality in chronic lymphocytic leukaemia by different assays; an ERIC-wide approach

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About: Assessment of TP53 functionality in chronic lymphocytic leukaemia by different assays; an ERIC-wide approach Goto Sponge NotDistinct Permalink

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Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
rdfs:seeAlso	http://onlinelibrary.wiley.com/doi/10.1111/bjh.13006/pdf
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). (en)
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 (en)
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 (en)
skos:notation	RIV/00216224:14740/14:00078310!RIV15-MSM-14740___
http://linked.open...avai/riv/aktivita	P
http://linked.open...avai/riv/aktivity	P(ED1.1.00/02.0068), P(NT13493), P(NT13519)
http://linked.open...iv/cisloPeriodika	4
http://linked.open...vai/riv/dodaniDat	2015
http://linked.open...aciTvurceVysledku	Mráz, Marek Pospíšilová, Šárka Malčíková, Jitka Trbušek, Martin
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Masarykova univerzita / Středoevropský technologický institut
http://linked.open...dnocenehoVysledku	4334
http://linked.open...ai/riv/idVysledku	RIV/00216224:14740/14:00078310
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	chronic lymphocytic leukaemia; TP53 function assays; TP53 axis; TP53; ATM (en)
http://linked.open.../riv/klicoveSlovo	chronic lymphocytic leukaemia ATM TP53 TP53 axis TP53 function assays
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[564EBC7050B8]
http://linked.open...i/riv/nazevZdroje	British journal of haematology
http://linked.open...in/vavai/riv/obor	FD
http://linked.open...ichTvurcuVysledku	4 (xsd:int)
http://linked.open...cetTvurcuVysledku	17 (xsd:int)
http://linked.open...vavai/riv/projekt	Molecular Characterization of B-cell Receptors and Their Relationship to Evolution of Gemonic Aberrations in Chronic Lymphocytic Leukemia Early identification of CLL patients with yet unselected p53 mutation Central european institute of technology
http://linked.open...UplatneniVysledku	2014
http://linked.open...v/svazekPeriodika	167
http://linked.open...iv/tvurceVysledku	Mráz, Marek Pospíšilová, Šárka Greil, R. Stilgenbauer, S. Malčíková, Jitka Trbušek, Martin Zenz, T. Lin, K. Eldering, M. H. Garff-Tavernier, M. Le Kater, A. P. Merkel, O. Merle-Beral, H. Oers van, A. R. Pettitt, A. R. Raa te, Doreen G. Stankovic, T.
http://linked.open...ain/vavai/riv/wos	000344351200017
issn	0007-1048
number of pages	5 (xsd:int)
http://bibframe.org/vocab/doi	10.1111/bjh.13006
http://localhost/t...ganizacniJednotka	14740

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