About: JAK2 genotyping (Real-time allelic discrimination) reveals rare JAK2 V617F-positive erythroid colonies in pediatric patients with essential thrombocythemia     Goto   Sponge   NotDistinct   Permalink

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Description
  • Childhood essential thrombocythemia (ET) is a very rare disease belonging to a group of Bcr-Abl negative myeloproliferative disorders. Our study involved 15 pediatric ET patients diagnosed at the age of 6-17 years. Monoclonal hematopoiesis was detected only in one patient, who is recently an adult (diagnosed at the age of 9). JAK2 V617F was detected in whole blood DNA by allele-specific (AS)-PCR and BsaXI restriction analysis. In our hands AS-PCR sensitivity reached the detection limit of one homozygous cell in 2000 normal cells. In addition, more sensitive AS-RT-PCR was performed on RNA isolated from granulocytes and platelets from peripheral blood. Only one patient was JAK2 V617F-positive as detected by these established protocols. In the clonal assay of hematopoietic progenitors, most patients showed hypersensitivity to erythropoietin (Epo) in vitro with the growth of Epo-independent erythroid colonies (EECs) in some of them. Over 300 myeloid colonies were picked and analyzed by real-time allelic d
  • Childhood essential thrombocythemia (ET) is a very rare disease belonging to a group of Bcr-Abl negative myeloproliferative disorders. Our study involved 15 pediatric ET patients diagnosed at the age of 6-17 years. Monoclonal hematopoiesis was detected only in one patient, who is recently an adult (diagnosed at the age of 9). JAK2 V617F was detected in whole blood DNA by allele-specific (AS)-PCR and BsaXI restriction analysis. In our hands AS-PCR sensitivity reached the detection limit of one homozygous cell in 2000 normal cells. In addition, more sensitive AS-RT-PCR was performed on RNA isolated from granulocytes and platelets from peripheral blood. Only one patient was JAK2 V617F-positive as detected by these established protocols. In the clonal assay of hematopoietic progenitors, most patients showed hypersensitivity to erythropoietin (Epo) in vitro with the growth of Epo-independent erythroid colonies (EECs) in some of them. Over 300 myeloid colonies were picked and analyzed by real-time allelic d (en)
  • Dětská esenciální trombocytémie (ET) patří mezi vzácné onemocnění ze skupiny Bcr-Abl negativních myeloproliferativních onemocnění. Naše studie zahrnuje 15 dětských pacientů s ET, kteří byli diagnostikování ve věku 6-17 let ... (cs)
Title
  • JAK2 genotyping (Real-time allelic discrimination) reveals rare JAK2 V617F-positive erythroid colonies in pediatric patients with essential thrombocythemia
  • JAK2 genotyping (Real-time allelic discrimination) reveals rare JAK2 V617F-positive erythroid colonies in pediatric patients with essential thrombocythemia (en)
  • Genotypování JAK2 odhalilo u pediatrických pacientů s trombocytemií vzácně se vyskytující erythroidní kolonie pozitivní na JAK2 V617F (cs)
skos:prefLabel
  • JAK2 genotyping (Real-time allelic discrimination) reveals rare JAK2 V617F-positive erythroid colonies in pediatric patients with essential thrombocythemia
  • JAK2 genotyping (Real-time allelic discrimination) reveals rare JAK2 V617F-positive erythroid colonies in pediatric patients with essential thrombocythemia (en)
  • Genotypování JAK2 odhalilo u pediatrických pacientů s trombocytemií vzácně se vyskytující erythroidní kolonie pozitivní na JAK2 V617F (cs)
skos:notation
  • RIV/61989592:15110/07:00004017!RIV08-MZ0-15110___
http://linked.open.../vavai/riv/strany
  • 748
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • P(NR9471), Z(MSM6198959205), Z(MSM6198959216)
http://linked.open...iv/cisloPeriodika
  • 11
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
http://linked.open.../riv/druhVysledku
http://linked.open...iv/duvernostUdaju
http://linked.open...titaPredkladatele
http://linked.open...dnocenehoVysledku
  • 427917
http://linked.open...ai/riv/idVysledku
  • RIV/61989592:15110/07:00004017
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • Childhood thrombocythemia; EPO; mutation (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • US - Spojené státy americké
http://linked.open...ontrolniKodProRIV
  • [1A1AFFFF711F]
http://linked.open...i/riv/nazevZdroje
  • Blood
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...vavai/riv/projekt
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 110
http://linked.open...iv/tvurceVysledku
  • Peková, Soňa
  • Pospíšilová, Dagmar
  • Starý, J.
  • Čmejla, Radek
  • Divoký, Vladimír
  • Horváthová, Monika
  • Solná, Renáta
  • Veselovská, Jitka
  • Čmejlová, Jana
  • Běličková, M.
http://linked.open...n/vavai/riv/zamer
issn
  • 0006-4971
number of pages
http://localhost/t...ganizacniJednotka
  • 15110
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