SNP information rs77375493

Research and publications:

  15781101   Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders.

  16081687   The JAK2V617F activating mutation occurs in chronic myelomonocytic leukemia and acute myeloid leukemia, but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia.

  16709929   High molecular response rate of polycythemia vera patients treated with pegylated interferon alpha-2a.

  16762626   Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome.

  18394554   Efficacy of TG101348, a selective JAK2 inhibitor, in treatment of a murine model of JAK2V617F-induced polycythemia vera.

  19287384   A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms.

  19293426   The presence of JAK2V617F mutation in the liver endothelial cells of patients with Budd-Chiari syndrome.

  20339092   AML1 is overexpressed in patients with myeloproliferative neoplasms and mediates JAK2V617F-independent overexpression of NF-E2.

  20631743   A prospective study of 338 patients with polycythemia vera: the impact of JAK2 (V617F) allele burden and leukocytosis on fibrotic or leukemic disease transformation and vascular complications.

  21120162   JAK2 V617F mutation in myelodysplastic syndrome, myelodysplastic syndrome/myeloproliferative neoplasm, unclassifiable, refractory anemia with ring sideroblasts with thrombocytosis, and acute myeloid leukemia.

  21689158   A patient with a 20-year lag phase between JAK2-V617F+ myeloproliferation and NPM1-mutated AML arguing against a common origin of disease.

  22041374   A case of myeloid sarcoma with correlation to JAK2V617F mutation, complicated by myelofibrosis and secondary acute myeloid leukemia.

  22397670   Germline JAK2 mutation in a family with hereditary thrombocytosis.

  22422826   Phase 2 study of the JAK kinase inhibitor ruxolitinib in patients with refractory leukemias, including postmyeloproliferative neoplasm acute myeloid leukemia.

  22571758   De novo childhood myelodysplastic/myeloproliferative disease with unique molecular characteristics.

  22818858   Long term follow up of 93 families with myeloproliferative neoplasms: life expectancy and implications of JAK2V617F in the occurrence of complications.

  22829971   The oral HDAC inhibitor pracinostat (SB939) is efficacious and synergistic with the JAK2 inhibitor pacritinib (SB1518) in preclinical models of AML.

  23115274   Secondary genetic lesions in acute myeloid leukemia with inv(16) or t(16;16): a study of the German-Austrian AML Study Group (AMLSG).

  23425079   Clinical features and etiology of Budd-Chiari syndrome in Chinese patients: a single-center study.

  24404189   Proliferation and survival signaling from both Jak2-V617F and Lyn involving GSK3 and mTOR/p70S6K/4EBP1 in PVTL-1 cell line newly established from acute myeloid leukemia transformed from polycythemia vera.

  24986690   Clinical effect of driver mutations of JAK2, CALR, or MPL in primary myelofibrosis.

  25157968   Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

  25698270   Diagnostic value of the JAK2 V617F mutation for latent chronic myeloproliferative disorders in patients with Budd-Chiari syndrome and/or portal vein thrombosis.

  27301361   Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases.

  29641532   Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

  34203389   Targeted Sequencing of Taiwanese Breast Cancer with Risk Stratification by the Concurrent Genes Signature: A Feasibility Study.