| NOETZLI, Leila, Richard W. LO, Alisa B. LEE-SHERICK, Michael CALLAGHAN, Patrizia NORIS, Anna SAVOIA, Madhvi RAJPURKAR, Kenneth JONES, Katherine GOWAN, Carlo L. BALDUINI, Alessandro PECCI, Chiara GNAN, Daniela DE ROCCO, Michael DOUBEK, Ling LI, Lily LU, Richard LEUNG, Carolina LANDOLT-MARTICORENA, Stephen HUNGER, Paula HELLER, Arthur GUTIERREZ-HARTMANN, Xiayuan LIANG, Fred G. PLUTHERO, Jesse W. ROWLEY, Andrew S. WEYRICH, Walter H.A. KAHR, Christopher C. PORTER a Paola DI JORGE. Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia. Nature genetics. New York: Nature Publishing Group, 2015, roč. 47, č. 5, s. "535"-"U143", 6 s. ISSN 1061-4036. Dostupné z: https://dx.doi.org/10.1038/ng.3253. |
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@article{1306299,
author = {Noetzli, Leila and Lo, Richard W. and LeeandSherick, Alisa B. and Callaghan, Michael and Noris, Patrizia and Savoia, Anna and Rajpurkar, Madhvi and Jones, Kenneth and Gowan, Katherine and Balduini, Carlo L. and Pecci, Alessandro and Gnan, Chiara and De Rocco, Daniela and Doubek, Michael and Li, Ling and Lu, Lily and Leung, Richard and LandoltandMarticorena, Carolina and Hunger, Stephen and Heller, Paula and GutierrezandHartmann, Arthur and Liang, Xiayuan and Pluthero, Fred G. and Rowley, Jesse W. and Weyrich, Andrew S. and Kahr, Walter H.A. and Porter, Christopher C. and Di Jorge, Paola},
article_location = {New York},
article_number = {5},
doi = {http://dx.doi.org/10.1038/ng.3253},
keywords = {acute lymphoblastic leukemia; alternative RNA splicing; amino acid substitution;},
language = {eng},
issn = {1061-4036},
journal = {Nature genetics},
title = {Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia},
volume = {47},
year = {2015}
}
TY - JOUR
ID - 1306299
AU - Noetzli, Leila - Lo, Richard W. - Lee-Sherick, Alisa B. - Callaghan, Michael - Noris, Patrizia - Savoia, Anna - Rajpurkar, Madhvi - Jones, Kenneth - Gowan, Katherine - Balduini, Carlo L. - Pecci, Alessandro - Gnan, Chiara - De Rocco, Daniela - Doubek, Michael - Li, Ling - Lu, Lily - Leung, Richard - Landolt-Marticorena, Carolina - Hunger, Stephen - Heller, Paula - Gutierrez-Hartmann, Arthur - Liang, Xiayuan - Pluthero, Fred G. - Rowley, Jesse W. - Weyrich, Andrew S. - Kahr, Walter H.A. - Porter, Christopher C. - Di Jorge, Paola
PY - 2015
TI - Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia
JF - Nature genetics
VL - 47
IS - 5
SP - "535"-"U143"
EP - "535"-"U143"
PB - Nature Publishing Group
SN - 10614036
KW - acute lymphoblastic leukemia
KW - alternative RNA splicing
KW - amino acid substitution;
N2 - Some familial platelet disorders are associated with predisposition to leukemia, myelodysplastic syndrome (MDS) or dyserythropoietic anemia(1,2). We identified a family with autosomal dominant thrombocytopenia, high erythrocyte mean corpuscular volume (MCV) and two occurrences of B cell-precursor acute lymphoblastic leukemia (ALL). Whole-exome sequencing identified a heterozygous single-nucleotide change in ETV6 (ets variant 6), c.641C>T, encoding a p.Pro214Leu substitution in the central domain, segregating with thrombocytopenia and elevated MCV. A screen of 23 families with similar phenotypes identified 2 with ETV6 mutations. One family also had a mutation encoding p.Pro214Leu and one individual with ALL. The other family had a c.1252A>G transition producing a p.Arg418Gly substitution in the DNA-binding domain, with alternative splicing and exon skipping. Functional characterization of these mutations showed aberrant cellular localization of mutant and endogenous ETV6, decreased transcriptional repression and altered megakaryocyte maturation. Our findings underscore a key role for ETV6 in platelet formation and leukemia predisposition.
ER -
NOETZLI, Leila, Richard W. LO, Alisa B. LEE-SHERICK, Michael CALLAGHAN, Patrizia NORIS, Anna SAVOIA, Madhvi RAJPURKAR, Kenneth JONES, Katherine GOWAN, Carlo L. BALDUINI, Alessandro PECCI, Chiara GNAN, Daniela DE ROCCO, Michael DOUBEK, Ling LI, Lily LU, Richard LEUNG, Carolina LANDOLT-MARTICORENA, Stephen HUNGER, Paula HELLER, Arthur GUTIERREZ-HARTMANN, Xiayuan LIANG, Fred G. PLUTHERO, Jesse W. ROWLEY, Andrew S. WEYRICH, Walter H.A. KAHR, Christopher C. PORTER a Paola DI JORGE. Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia. \textit{Nature genetics}. New York: Nature Publishing Group, 2015, roč.~47, č.~5, s.~''535''-''U143'', 6 s. ISSN~1061-4036. Dostupné z: https://dx.doi.org/10.1038/ng.3253.
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