JAK2


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JAK2

A gene on chromosome 9p24 that encodes a non-receptor protein tyrosine kinase, which is involved in a subset of cytokine receptor signalling pathways, including for cell growth, development, differentiation and histone modifications. JAK2 mediates essential signalling events in both innate and adaptive immunity, and is required for responses to gamma interferon. It plays a key role in signal transduction by associating with type-I receptors (e.g., growth hormone (GHR), prolactin (PRLR), leptin (LEPR), erythropoietin (EPOR), thrombopoietin (THPO)) or type-II receptors (e.g., IFN-alpha, IFN-beta, IFN-gamma and a wide range of interleukins).
References in periodicals archive ?
Food and Drug Administration (FDA) for the treatment of intermediate and high-risk myelofibrosis, including but not limited to patients with disease-related thrombocytopenia, patients experiencing treatment-emergent thrombocytopenia on other JAK2 inhibitor therapy or patients who are intolerant of, or whose symptoms are sub-optimally managed on other JAK2 inhibitor therapy.
As with ET, molecular testing on a peripheral blood or bone marrow sample will reveal the presence of the JAK2 V617F mutation in approximately 50% of cases.
Mutation Analysis of JAK2 V617F: DNAs were isolated from peripheral blood samples in each case by using the NucleoSpin Blood Kit (Macherey-Nagel, Germany).
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.
Baricitinib is an orally administered selective JAK1 and JAK2 inhibitor that is JAK3-sparing.
In this disorder the JAK2 V617F or MPL W515K/L mutation are positive for 60% to 70% of ET cases.
Statistical analysis: Comparison of clinical characteristics between cases with and without JAK2 V617F mutation was done by using Mann-Whitney U test (Wilcoxon rank sum test) for WBC, platelet count, splenomegaly, and disease duration; t-test for age and haemoglobin; [chi square] test for sex, and Fisher's exact test for thrombosis using software (SPSS, 11).
There, according to the researchers, an enzyme made by JAK2 controls the activity of other genes by altering proteins, called histones that protect DNA - of which cells are made.
Ipsogen SA (Marseille, France), a molecular diagnostic company specialized in the development, the manufacturing and the commercialization of diagnostic assays for breast cancer and leukemia, announced the signature of an agreement with ARUP Laboratories to offer JAK2 molecular diagnostic testing in the USA.
S*BIO Pte Ltd, Singapore, has announced the initiation of a Phase 1/2 clinical trial of SB1518, a potent and orally-active JAK2 inhibitor, in leading medical centers in Australia for patients with chronic idiopathic myelofibrosis (CIMF).
Scientists now report that a mutation in the JAK2 gene on chromosome 9 shows up in one-fifth of people who have Down syndrome and acute lymphoid leukemia (ALL), suggesting that the mutation accounts for some of this increased risk.