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).
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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.
"This agreement with ARUP, reinforces the medical value of the JAK2 test as a diagnostic tool for MPN supported by the World Health Organization (WHO) guidelines and affirms the strong Intellectual Property position of Ipsogen's JAK2 patent portfolio," said Vincent Fert, Chairman and CEO of Ipsogen.
While the actual cause of the disease is unknown, the JAK2 gene has been implicated in the development of this condition.
"We think trisomy in chromosome 21 gives a survival advantage to cells carrying the JAK2 or GATA1 mutations," Izraeli says.
Leptin, LEPR, JAK2, STAT3, KISS1, TRPC5) were analyzed through quantitative real-time PCR (qRT-PCR) and using the cDNA of various tissues in different stages of puberty as templates.
CALR mutated MPNs demonstrate distinct features; such as younger age group, lower hemoglobin levels, higher platelet counts, decreased risk of thrombosis, and improved overall survival compared to patients with JAK2 orMPL mutations (83,84).
Given the low frequency of mutations in the JAK2, MPL, and CALR genes, the corresponding reagents and controls are increasingly expensive.
All triggering factors such as point mutations, deletions and/or insertions in Jak2 gene result in myelo-proliferative neoplasms that can further progress into leukemias and myelodysplastic syndromes.
Compared with cells transfected with negative vector, the relative expression levels of PRLR (PRL receptor), JAK2, STAT5 and DGAT1 in cells treated with pEGS/2SS-tPA or pEGS/2SS were dramatically decreased (Fig.
La gran mayoria de los pacientes que padecen PV albergan una mutacion en la tirosin cinasa JAK2 (Janus kinase 2), aproximadamente el 96% y el 3% presentan mutaciones activadoras somaticas en el exon 14 y 12 del mismo gen, respectivamente [1].