About: The origin of deletion 22q11 in chronic lymphocytic leukemia is related to the rearrangement of immunoglobulin lambda light chain locus

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About: The origin of deletion 22q11 in chronic lymphocytic leukemia is related to the rearrangement of immunoglobulin lambda light chain locus Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	The technology of array comparative genomic hybridization (array-CGH/aCGH) enabled the identification of novel genomic aberrations in chronic lymphocytic leukemia (CLL) including the monoallelic and biallelic deletions affecting 22q11 locus. In contrast to previous publications, we hypothesized that the described 22q11 deletions are a consequence of the rearrangement of immunoglobulin lambda light chain locus (IGL) segments surrounding several protein-coding genes located in this region. Indeed, using array-CGH and PCR analysis we show that all deletions (n=7) affecting the 22q11 locus in our cohort (n=40) are based on the physiological mechanism of IGL rearrangement. This demonstrates that this loss of genetic material is likely not pathogenic and in fact is merely a marker of IGL rearrangement. The technology of array comparative genomic hybridization (array-CGH/aCGH) enabled the identification of novel genomic aberrations in chronic lymphocytic leukemia (CLL) including the monoallelic and biallelic deletions affecting 22q11 locus. In contrast to previous publications, we hypothesized that the described 22q11 deletions are a consequence of the rearrangement of immunoglobulin lambda light chain locus (IGL) segments surrounding several protein-coding genes located in this region. Indeed, using array-CGH and PCR analysis we show that all deletions (n=7) affecting the 22q11 locus in our cohort (n=40) are based on the physiological mechanism of IGL rearrangement. This demonstrates that this loss of genetic material is likely not pathogenic and in fact is merely a marker of IGL rearrangement. (en)
Title	The origin of deletion 22q11 in chronic lymphocytic leukemia is related to the rearrangement of immunoglobulin lambda light chain locus The origin of deletion 22q11 in chronic lymphocytic leukemia is related to the rearrangement of immunoglobulin lambda light chain locus (en)
skos:prefLabel	The origin of deletion 22q11 in chronic lymphocytic leukemia is related to the rearrangement of immunoglobulin lambda light chain locus The origin of deletion 22q11 in chronic lymphocytic leukemia is related to the rearrangement of immunoglobulin lambda light chain locus (en)
skos:notation	RIV/00216224:14740/13:00065609!RIV14-MZ0-14740___
http://linked.open...avai/riv/aktivita	P
http://linked.open...avai/riv/aktivity	P(ED1.1.00/02.0068), P(EE2.3.20.0045), P(NT11218), P(NT13493)
http://linked.open...iv/cisloPeriodika	7
http://linked.open...vai/riv/dodaniDat	2014
http://linked.open...aciTvurceVysledku	Mráz, Marek Pospíšilová, Šárka Brychtová, Yvona Kuglík, Petr Doubek, Michael Mayer, Jiří Tichý, Boris Stano Kozubík, Kateřina Plevová, Karla Borský, Marek Musilová, Kateřina
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	94642
http://linked.open...ai/riv/idVysledku	RIV/00216224:14740/13:00065609
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	CLL; 22q11; IGL; IGLV; PRAME (en)
http://linked.open.../riv/klicoveSlovo	22q11 IGL IGLV PRAME CLL
http://linked.open...odStatuVydavatele	GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV	[A1B41B8D3ECE]
http://linked.open...i/riv/nazevZdroje	Leukemia Research
http://linked.open...in/vavai/riv/obor	FD
http://linked.open...ichTvurcuVysledku	11 (xsd:int)
http://linked.open...cetTvurcuVysledku	11 (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 Central european institute of technology Support of Professional Growth and International Integration of Research Teams in the Filed of Molecular Medicine Functional and structural changes of microRNAs in lymphoproliferative malignancies and their impact on prognosis and prediction of therapy response
http://linked.open...UplatneniVysledku	2013
http://linked.open...v/svazekPeriodika	37
http://linked.open...iv/tvurceVysledku	Brychtová, Yvona Doubek, Michael Kuglík, Petr Mayer, Jiří Mráz, Marek Pospíšilová, Šárka Tichý, Boris Plevová, Karla Borský, Marek Staňo Kozubík, Kateřina Musilová, Kateřina
http://linked.open...ain/vavai/riv/wos	000320583100016
issn	0145-2126
number of pages	7 (xsd:int)
http://bibframe.org/vocab/doi	10.1016/j.leukres.2013.03.018
http://localhost/t...ganizacniJednotka	14740

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