About: A case of a novel PML/RARA short fusion transcript with truncated transcription variant 2 of the RARA gene

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About: A case of a novel PML/RARA short fusion transcript with truncated transcription variant 2 of the RARA gene Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Acute promyelocytic leukemia (APL) with atypical breakpoints in the promyelocytic leukemia (PML) and retinoic acid receptor-alfa (RARA) genes represents a rare leukemic event, which occurs preferentially in patients with variant types of the PML/RARA fusion gene. Here we report on a patient with APL eith a unique PML/RARA fusion transcript that harbors a short type of this fusion gene, exhibiting unexpected results of standard PCR diagnostics. The detected transcript originates bfrom fusion of PML exon 4 and a truncated form of transcription variant 2 of the RARA gene, with an additional 9bp insertion. According to our knowledge, this differs from all previously described fusion transcripts. Acute promyelocytic leukemia (APL) with atypical breakpoints in the promyelocytic leukemia (PML) and retinoic acid receptor-alfa (RARA) genes represents a rare leukemic event, which occurs preferentially in patients with variant types of the PML/RARA fusion gene. Here we report on a patient with APL eith a unique PML/RARA fusion transcript that harbors a short type of this fusion gene, exhibiting unexpected results of standard PCR diagnostics. The detected transcript originates bfrom fusion of PML exon 4 and a truncated form of transcription variant 2 of the RARA gene, with an additional 9bp insertion. According to our knowledge, this differs from all previously described fusion transcripts. (en)
Title	A case of a novel PML/RARA short fusion transcript with truncated transcription variant 2 of the RARA gene A case of a novel PML/RARA short fusion transcript with truncated transcription variant 2 of the RARA gene (en)
skos:prefLabel	A case of a novel PML/RARA short fusion transcript with truncated transcription variant 2 of the RARA gene A case of a novel PML/RARA short fusion transcript with truncated transcription variant 2 of the RARA gene (en)
skos:notation	RIV/65269705:_____/10:#0000924!RIV11-MZ0-65269705
http://linked.open...avai/riv/aktivita	V Z
http://linked.open...avai/riv/aktivity	V, Z(MSM0021622430)
http://linked.open...iv/cisloPeriodika	2
http://linked.open...vai/riv/dodaniDat	2011
http://linked.open...aciTvurceVysledku	Rázga, Filip Dvořáková, Dana Doubek, Michael Mayer, Jiří Kořístek, Zdeněk Jurček, Tomáš Ježíšková, Ivana
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	Fakultní nemocnice Brno / (nerozlišená součást)
http://linked.open...dnocenehoVysledku	244476
http://linked.open...ai/riv/idVysledku	RIV/65269705:_____/10:#0000924
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	promyelocytic leukemia (en)
http://linked.open.../riv/klicoveSlovo	promyelocytic leukemia
http://linked.open...odStatuVydavatele	NL - Nizozemsko
http://linked.open...ontrolniKodProRIV	[388B902D5044]
http://linked.open...i/riv/nazevZdroje	Molecular diagnosis and therapy
http://linked.open...in/vavai/riv/obor	FD
http://linked.open...ichTvurcuVysledku	7 (xsd:int)
http://linked.open...cetTvurcuVysledku	8 (xsd:int)
http://linked.open...UplatneniVysledku	2010
http://linked.open...v/svazekPeriodika	14
http://linked.open...iv/tvurceVysledku	Doubek, Michael Dvořáková, Dana Jurček, Tomáš Mayer, Jiří Rázga, Filip Kořístek, Zdeněk Ježíšková, Ivana
http://linked.open...ain/vavai/riv/wos	000277721300007
http://linked.open...n/vavai/riv/zamer	Functional and molecular characteristics of cancer and normal stem cells - identification of targets for novel therapeutics and therapeutic strategies
issn	1177-1062
number of pages	5 (xsd:int)

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