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dc.contributor.author
Noetzli, Leila
dc.contributor.author
Lo, Richard W.
dc.contributor.author
Lee Sherick, Alisa B.
dc.contributor.author
Callaghan, Michael
dc.contributor.author
Noris, Patrizia
dc.contributor.author
Savoia, Anna
dc.contributor.author
Rajpurkar, Madhvi
dc.contributor.author
Jones, Kenneth
dc.contributor.author
Gowan, Katherine
dc.contributor.author
Balduini, Carlo L
dc.contributor.author
Pecci, Alessandro
dc.contributor.author
Gnan, Chiara
dc.contributor.author
De Rocco, Daniela
dc.contributor.author
Doubek, Michael
dc.contributor.author
Li, Ling
dc.contributor.author
Lu, Lily
dc.contributor.author
Leung, Richard
dc.contributor.author
Landolt Marticorena, Carolina
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Hunger, Stephen
dc.contributor.author
Heller, Paula Graciela
dc.contributor.author
Gutierrez Hartmann, Arthur
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Xiayuan, Liang
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Pluthero, Fred G.
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Rowley, Jesse W.
dc.contributor.author
Weyrich, Andrew S.
dc.contributor.author
Kahr, Walter H. A.
dc.contributor.author
Porter, Christopher C.
dc.contributor.author
Di Paola, Jorge
dc.date.available
2018-05-15T15:03:08Z
dc.date.issued
2015-03-25
dc.identifier.citation
Noetzli, Leila; Lo, Richard W.; Lee Sherick, Alisa B.; Callaghan, Michael; Noris, Patrizia; et al.; Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia; Nature Publishing Group; Nature Genetics; 47; 5; 25-3-2015; 535-538
dc.identifier.issn
1061-4036
dc.identifier.uri
http://hdl.handle.net/11336/45194
dc.description.abstract
Some familial platelet disorders are associated with predisposition to leukemia, myelodysplastic syndrome (MDS) or dyserythropoietic anemia. 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.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Nature Publishing Group
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Etv6
dc.subject
Thrombocytopenia
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Leukemia
dc.subject.classification
Medicina Critica y de Emergencia
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Medicina Clínica
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CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2018-03-13T13:55:02Z
dc.identifier.eissn
1546-1718
dc.journal.volume
47
dc.journal.number
5
dc.journal.pagination
535-538
dc.journal.pais
Reino Unido
dc.journal.ciudad
Londres
dc.description.fil
Fil: Noetzli, Leila. University of Colorado. Anschutz Medical Campus; Estados Unidos
dc.description.fil
Fil: Lo, Richard W.. University of Toronto; Canadá. Hospital for Sick Children. Research Institute; Canadá
dc.description.fil
Fil: Lee Sherick, Alisa B.. University of Colorado. Anschutz Medical Campus; Estados Unidos
dc.description.fil
Fil: Callaghan, Michael. Wayne State University; Estados Unidos
dc.description.fil
Fil: Noris, Patrizia. Università degli Studi di Pavia; Italia
dc.description.fil
Fil: Savoia, Anna. Istituto di Ricovero e Cura a Carattere Scientifico Burlo Garofolo. Institute for Maternal and Child Health; Italia. Università degli Studi di Trieste; Italia
dc.description.fil
Fil: Rajpurkar, Madhvi. Wayne State University; Estados Unidos
dc.description.fil
Fil: Jones, Kenneth. University of Colorado. Anschutz Medical Campus; Estados Unidos
dc.description.fil
Fil: Gowan, Katherine. University of Colorado. Anschutz Medical Campus; Estados Unidos
dc.description.fil
Fil: Balduini, Carlo L. Università degli Studi di Pavia; Italia
dc.description.fil
Fil: Pecci, Alessandro. Università degli Studi di Pavia; Italia
dc.description.fil
Fil: Gnan, Chiara. Istituto di Ricovero e Cura a Carattere Scientifico Burlo Garofolo. Institute for Maternal and Child Health; Italia. Università degli Studi di Trieste; Italia
dc.description.fil
Fil: De Rocco, Daniela. Università degli Studi di Trieste; Italia. Istituto di Ricovero e Cura a Carattere Scientifico Burlo Garofolo. Institute for Maternal and Child Health; Italia
dc.description.fil
Fil: Doubek, Michael. University Hospital Brno; República Checa
dc.description.fil
Fil: Li, Ling. Hospital for Sick Children. Research Institute; Canadá
dc.description.fil
Fil: Lu, Lily. Hospital for Sick Children. Research Institute; Canadá
dc.description.fil
Fil: Leung, Richard. Hospital for Sick Children. Research Institute; Canadá
dc.description.fil
Fil: Landolt Marticorena, Carolina. University of Toronto; Canadá
dc.description.fil
Fil: Hunger, Stephen. University of Colorado. Anschutz Medical Campus; Estados Unidos
dc.description.fil
Fil: Heller, Paula Graciela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
dc.description.fil
Fil: Gutierrez Hartmann, Arthur. University of Colorado. Anschutz Medical Campus; Estados Unidos
dc.description.fil
Fil: Xiayuan, Liang. University of Colorado. Anschutz Medical Campus; Estados Unidos
dc.description.fil
Fil: Pluthero, Fred G.. Hospital for Sick Children. Research Institute; Canadá
dc.description.fil
Fil: Rowley, Jesse W.. University of Utah; Estados Unidos
dc.description.fil
Fil: Weyrich, Andrew S.. University of Utah; Estados Unidos
dc.description.fil
Fil: Kahr, Walter H. A.. Hospital for Sick Children. Research Institute; Canadá. University of Toronto; Canadá
dc.description.fil
Fil: Porter, Christopher C.. University of Colorado. Anschutz Medical Campus; Estados Unidos
dc.description.fil
Fil: Di Paola, Jorge. University of Colorado. Anschutz Medical Campus; Estados Unidos
dc.journal.title
Nature Genetics
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://www.nature.com/articles/ng.3253
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1038/ng.3253
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