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Statements

Subject Item
n2:RIV%2F00064165%3A_____%2F12%3A12173%21RIV13-MZ0-00064165
rdf:type
skos:Concept n16:Vysledek
rdfs:seeAlso
http://dx.doi.org/10.1002/gcc.21927
dcterms:description
Myelodysplastic syndrome (MDS), a clonal disorder originating from hematopoietic stem cell, is characterized by a progressive character often leading to transformation to acute myeloid leukemia. We used single nucleotide polymorphism arrays (SNP-A) to identify previously cryptic chromosomal abnormalities such as copy number alterations and uniparental disomies (UPD) in cytogenetically normal MDS. In the aberrant regions, we attempted to localize candidate genes with potential relevance to the disease. Using SNP-A, we analyzed peripheral blood granulocytes from 37 MDS patients. The analysis identified 13 cryptic chromosomal defects in 10 patients (27%). Four UPD (affecting chromosomes 3q, 7q, 17q, and 20p), 5 deletions and 4 duplications were detected. Gene expression data measured on CD34+ cells were available for 4 patients with and 6 patients without SNP-A lesions. We performed an integrative analysis of genotyping and gene expression microarrays and found several genes with an altered expression located in the aberrant regions. The expression microarrays suggested BMP2 and TRIB3 located in 20p UPD as potential candidate genes contributing to MDS. We showed that the genome-wide integrative approach is beneficial to the comprehension of molecular backgrounds of diseases with incompletely understood etiopathology. Myelodysplastic syndrome (MDS), a clonal disorder originating from hematopoietic stem cell, is characterized by a progressive character often leading to transformation to acute myeloid leukemia. We used single nucleotide polymorphism arrays (SNP-A) to identify previously cryptic chromosomal abnormalities such as copy number alterations and uniparental disomies (UPD) in cytogenetically normal MDS. In the aberrant regions, we attempted to localize candidate genes with potential relevance to the disease. Using SNP-A, we analyzed peripheral blood granulocytes from 37 MDS patients. The analysis identified 13 cryptic chromosomal defects in 10 patients (27%). Four UPD (affecting chromosomes 3q, 7q, 17q, and 20p), 5 deletions and 4 duplications were detected. Gene expression data measured on CD34+ cells were available for 4 patients with and 6 patients without SNP-A lesions. We performed an integrative analysis of genotyping and gene expression microarrays and found several genes with an altered expression located in the aberrant regions. The expression microarrays suggested BMP2 and TRIB3 located in 20p UPD as potential candidate genes contributing to MDS. We showed that the genome-wide integrative approach is beneficial to the comprehension of molecular backgrounds of diseases with incompletely understood etiopathology.
dcterms:title
From cryptic chromosomal lesions to pathologically relevant genes: Integration of SNP-array with gene expression profiling in myelodysplastic syndrome with normal karyotype From cryptic chromosomal lesions to pathologically relevant genes: Integration of SNP-array with gene expression profiling in myelodysplastic syndrome with normal karyotype
skos:prefLabel
From cryptic chromosomal lesions to pathologically relevant genes: Integration of SNP-array with gene expression profiling in myelodysplastic syndrome with normal karyotype From cryptic chromosomal lesions to pathologically relevant genes: Integration of SNP-array with gene expression profiling in myelodysplastic syndrome with normal karyotype
skos:notation
RIV/00064165:_____/12:12173!RIV13-MZ0-00064165
n16:predkladatel
n18:ico%3A00064165
n3:aktivita
n12:Z n12:P
n3:aktivity
P(GP301/09/P579), P(LC535), P(NS9634), P(OC10043), Z(MZ0UHKT2005), Z(MZ0VFN2005)
n3:cisloPeriodika
5
n3:dodaniDat
n13:2013
n3:domaciTvurceVysledku
n5:1588656 n5:1129244 n5:7529805
n3:druhVysledku
n14:J
n3:duvernostUdaju
n7:S
n3:entitaPredkladatele
n20:predkladatel
n3:idSjednocenehoVysledku
137288
n3:idVysledku
RIV/00064165:_____/12:12173
n3:jazykVysledku
n15:eng
n3:klicovaSlova
nucleotide polymorphism analysis; acquired uniparental disomy; acute myeloid leukemias; pathogenesis; mutations; AML
n3:klicoveSlovo
n9:pathogenesis n9:nucleotide%20polymorphism%20analysis n9:acute%20myeloid%20leukemias n9:acquired%20uniparental%20disomy n9:mutations n9:AML
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[2A1602C97BF6]
n3:nazevZdroje
Genes, Chromosomes and Cancer
n3:obor
n11:EB
n3:pocetDomacichTvurcuVysledku
3
n3:pocetTvurcuVysledku
10
n3:projekt
n6:LC535 n6:OC10043 n6:GP301%2F09%2FP579 n6:NS9634
n3:rokUplatneniVysledku
n13:2012
n3:svazekPeriodika
51
n3:tvurceVysledku
Zemanová, Zuzana Hajkova, H. Merkerova, MD Polak, J. Bystřická, Dagmar Cermak, J. Krejcik, Z. Brezinova, J. Belickova, M. Michalová, Kyra
n3:wos
000301118100001
n3:zamer
n8:MZ0VFN2005 n8:MZ0UHKT2005
s:issn
1045-2257
s:numberOfPages
10