Association of a single-nucleotide polymorphism in the SH2B3 gene with JAK2V617F-positive myeloproliferative neoplasms

Blood

Volumn 123, Issue 5, 2014, Pages 794-796

  Lesteven, Elodie ^a   Picque, Marie ^a   Tonetti, Carole Conejero ^a   Giraudier, Stéphane ^a   Varin Blank, Nadine ^a   Velazquez, Laura ^a   Kiladjian, Jean Jacques ^b   Cassinat, Bruno ^b   Baran Marszak, Fanny ^a,c  

^a UNIVERSITÉ PARIS 13   (France)

^b SAINT LOUIS HOSPITAL   (France)

^c AVICENNE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ERYTHROPOIETIN RECEPTOR; JANUS KINASE 2; PLECKSTRIN; PROTEIN; PROTEIN JAK2V617F; PROTEIN SH2; PROTEIN SH2B3; THROMBOPOIETIN RECEPTOR; UNCLASSIFIED DRUG;

ACUTE LYMPHOBLASTIC LEUKEMIA; CELIAC DISEASE; CORONARY ARTERY DISEASE; CORONARY RISK; EXON; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; LETTER; MYELOPROLIFERATIVE NEOPLASM; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBOCYTHEMIA; THROMBOCYTOSIS; ANIMAL; FEMALE; GENETICS; MALE; NOTE;

ANIMALS; FEMALE; HUMANS; MALE; PRECURSOR CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; PROTEINS;

EID: 84897023698     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2013-10-532622     Document Type: Letter

References (10)

1. Perez-Garcia A, Ambesi-Impiombato A, Hadler M, et al. Genetic loss of SH2B3 in acute lymphoblastic leukemia. Blood. 2013;122(14):2425-2432.
2. Bersenev A, Wu C, Balcerek J, Tong W. Lnk controls mouse hematopoietic stem cell self-renewal and quiescence through direct interactions with JAK2. J Clin Invest. 2008;118(8):2832-2844.
3. Gery S, Gueller S, Chumakova K, Kawamata N, Liu L, Koeffler HP. Adaptor protein Lnk negatively regulates the mutant MPL, MPLW515L associated with myeloproliferative disorders. Blood. 2007;110(9):3360-3364.
4. Baran-Marszak F, Magdoud H, Desterke C, et al. Expression level and differential JAK2-V617F-binding of the adaptor protein Lnk regulates JAK2-mediated signals in myeloproliferative neoplasms. Blood. 2010;116(26):5961-5971.
5. Lasho TL, Pardanani A, Tefferi A. LNK mutations in JAK2 mutation-negative erythrocytosis. N Engl J Med. 2010;363(12):1189-1190.
6. Oh ST, Simonds EF, Jones C, et al. Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms. Blood. 2010;116(6):988-992.
7. Todd JA, Walker NM, Cooper JD, et al; Genetics of Type 1 Diabetes in Finland; Wellcome Trust Case Control Consortium. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat Genet. 2007;39(7):857-864.
8. Soranzo N, Rendon A, Gieger C, et al. A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function. Blood. 2009; 113(16):3831-3837.
9. Alcina A, Vandenbroeck K, Otaegui D, et al. The autoimmune diseaseassociated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis. Genes Immun. 2010;11(5):439-445.
10. Lavrikova EY, Nikitin AG, Kuraeva TL, et al. The carriage of the type 1 diabetesassociated R262W variant of human LNK correlates with increased proliferation of peripheral blood monocytes in diabetic patients. Pediatr Diabetes. 2011; 12(2):127-132.