STAŇO KOZUBÍK, Kateřina, Lenka RADOVÁ, Kamila RÉBLOVÁ, Michal ŠMÍDA, Marketa KUBRICANOVA ZALIOVA, Jiří BALOUN, Michaela PEŠOVÁ, Zuzana VRZALOVÁ, František FOLBER, Soňa MEJSTŘÍKOVÁ, Šárka POSPÍŠILOVÁ a Michael DOUBEK. Functional analysis of germlineETV6 W380Rmutation causing inherited thrombocytopenia and secondary acute lymphoblastic leukemia or essential thrombocythemia. Platelets. PHILADELPHIA: TAYLOR & FRANCIS INC, 2021, roč. 32, č. 6, s. 838-841. ISSN 0953-7104. Dostupné z: https://dx.doi.org/10.1080/09537104.2020.1802416. |
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@article{1765766, author = {Staňo Kozubík, Kateřina and Radová, Lenka and Réblová, Kamila and Šmída, Michal and Kubricanova Zaliova, Marketa and Baloun, Jiří and Pešová, Michaela and Vrzalová, Zuzana and Folber, František and Mejstříková, Soňa and Pospíšilová, Šárka and Doubek, Michael}, article_location = {PHILADELPHIA}, article_number = {6}, doi = {http://dx.doi.org/10.1080/09537104.2020.1802416}, keywords = {Acute lymphoblastic leukemia; ETV6; myeloproliferative neoplasm; second hit}, language = {eng}, issn = {0953-7104}, journal = {Platelets}, title = {Functional analysis of germlineETV6 W380Rmutation causing inherited thrombocytopenia and secondary acute lymphoblastic leukemia or essential thrombocythemia}, url = {https://www.tandfonline.com/doi/full/10.1080/09537104.2020.1802416}, volume = {32}, year = {2021} }
TY - JOUR ID - 1765766 AU - Staňo Kozubík, Kateřina - Radová, Lenka - Réblová, Kamila - Šmída, Michal - Kubricanova Zaliova, Marketa - Baloun, Jiří - Pešová, Michaela - Vrzalová, Zuzana - Folber, František - Mejstříková, Soňa - Pospíšilová, Šárka - Doubek, Michael PY - 2021 TI - Functional analysis of germlineETV6 W380Rmutation causing inherited thrombocytopenia and secondary acute lymphoblastic leukemia or essential thrombocythemia JF - Platelets VL - 32 IS - 6 SP - 838-841 EP - 838-841 PB - TAYLOR & FRANCIS INC SN - 09537104 KW - Acute lymphoblastic leukemia KW - ETV6 KW - myeloproliferative neoplasm KW - second hit UR - https://www.tandfonline.com/doi/full/10.1080/09537104.2020.1802416 N2 - Germline mutations inETV6gene cause inherited thrombocytopenia with leukemia predisposition. Here, we report on functional validation ofETV6W380R mutation segregating with thrombocytopenia in a family where two family members also suffered from acute lymphoblastic leukemia (ALL) or essential thrombocythemia (ET).In-silicoanalysis predicted impaired DNA binding due to W380R mutation. Functional analysis showed that this mutation prevents the ETV6 protein from localizing into the cell nucleus and impairs the transcriptional repression activity of ETV6. Based on the germlineETV6mutation, ET probably started with somaticJAK2V617F mutation, whereas ALL could be caused by diverse mechanisms: high-hyperdiploidity; somatic deletion of exon 1IKZF1gene; or somatic mutations of other genes found by exome sequencing of the ALL sample taken at the diagnosis. ER -
STAŇO KOZUBÍK, Kateřina, Lenka RADOVÁ, Kamila RÉBLOVÁ, Michal ŠMÍDA, Marketa KUBRICANOVA ZALIOVA, Jiří BALOUN, Michaela PEŠOVÁ, Zuzana VRZALOVÁ, František FOLBER, Soňa MEJSTŘÍKOVÁ, Šárka POSPÍŠILOVÁ a Michael DOUBEK. Functional analysis of germlineETV6 W380Rmutation causing inherited thrombocytopenia and secondary acute lymphoblastic leukemia or essential thrombocythemia. \textit{Platelets}. PHILADELPHIA: TAYLOR \&{} FRANCIS INC, 2021, roč.~32, č.~6, s.~838-841. ISSN~0953-7104. Dostupné z: https://dx.doi.org/10.1080/09537104.2020.1802416.
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