Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies

Nature Genetics

Volumn 47, Issue 10, 2015, Pages 1131-1140

  Saliba, Joseph ^a,b,c   Saint Martin, Cécile ^a,b,d   Di Stefano, Antonio ^a,b,c   Lenglet, Gaëlle ^a,b,c   Marty, Caroline ^a,b,c   Keren, Boris ^d   Pasquier, Florence ^a,b,c   Della Valle, Véronique ^a,b   Secardin, Lise ^a,b,c   Leroy, Gwendoline ^d   Mahfoudhi, Emna ^a,b,c,e   Grosjean, Sarah ^a,b,c   Droin, Nathalie ^a,b   Diop, M'boyba ^a,b   Dessen, Philippe ^a,b   Charrier, Sabine ^f   Palazzo, Alberta ^a,b   Merlevede, Jane ^a,b   Meniane, Jea ɤme ^g   Delaunay Darivon, Christine ^g   Fuseau, Pascal ^h   Isnard, Françoise ^d,i   Casadevall, Nicole ^a,d   Solary, Eric ^a,b   Debili, Najet ^a,b   A Bernard, Olivier ^a,b   Raslova, Hana ^a,b   Najman, Albert ^d,i   Vainchenker, William ^a,b,c,d   Bellanné Chantelot, Christine ^a,b,d,i   Plo, Isabelle ^a,b,c   more..

^a Universite Paris Sud   (France)

^b INSTITUT GUSTAVE ROUSSY   (France)

^c Laboratory of Excellence GR Ex   (France)

^d Assistance Publique Hpitaux de Paris   (France)

^e PASTEUR INSTITUTE OF TUNIS   (Tunisia)

^f GÉNÉTHON   (France)

^g Department of Internal Medicine   (France)

^h CHU Fort de France   (France)

ⁱ SORBONNE UNIVERSITÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

THROMBOPOIETIN; ATG2B PROTEIN, HUMAN; C14ORF129 PROTEIN, HUMAN; REPRESSOR PROTEIN; VESICULAR TRANSPORT PROTEIN;

ADULT; AGED; ANIMAL CELL; ARTICLE; ATG2B GENE; AUTOSOMAL DOMINANT INHERITANCE; CALR GENE; CANCER GROWTH; CANCER SUSCEPTIBILITY; CELL DIFFERENTIATION; CHROMOSOME 14; CONTROLLED STUDY; COPY NUMBER VARIATION; FAMILIAL CANCER; FEMALE; GENE DUPLICATION; GENE OVEREXPRESSION; GENETIC PREDISPOSITION; GERMLINE MUTATION; GSKIP GENE; HEMATOPOIETIC STEM CELL; HUMAN; HUMAN CELL; JAK2 GENE; LEUKEMIA; MALE; MEGAKARYOCYTE; MOUSE; MPL GENE; MYELOFIBROSIS; MYELOPROLIFERATIVE NEOPLASM; NONHUMAN; ONCOGENE; PLURIPOTENT STEM CELL; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; THROMBOCYTHEMIA; ACUTE MYELOBLASTIC LEUKEMIA; ADOLESCENT; CHILD; CYTOLOGY; GENETICS; GERM CELL; INFANT; MYELODYSPLASTIC SYNDROME; PEDIGREE; PHENOTYPE; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; CHILD; CHROMOSOMES, HUMAN, PAIR 14; FEMALE; GENE DUPLICATION; GENETIC PREDISPOSITION TO DISEASE; GERM CELLS; HUMANS; INDUCED PLURIPOTENT STEM CELLS; INFANT; LEUKEMIA, MYELOID, ACUTE; MALE; MYELODYSPLASTIC SYNDROMES; PEDIGREE; PHENOTYPE; REPRESSOR PROTEINS; VESICULAR TRANSPORT PROTEINS; YOUNG ADULT;

EID: 84942990593     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3380     Document Type: Article

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