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A mutation in the JAK2 kinase (V617F) is strongly associated with polycythemia vera. [18] [19] While it is a JAK2 V617F mutation in 95% of patients, JAK2 exon 12 mutations have also been observed. [20] The V617F mutation is not inherited, but develops as a somatic mutation in the erythroid progenitor cells. [21]
[9] [10] There are three known genetic mutations that cause ET. The most common genetic mutation is a JAK2 mutation. Roughly 50% of the population of ET patients have this mutation. The JAK 2 gene signals a protein that promotes the growth of cells. The protein is part of a signaling pathway called the JAK/STAT pathway.
Nearly one-third of patients have a myeloproliferative disorder (e.g. polycythemia vera [6] or primary thrombocytosis), most commonly due to a Janus kinase 2 (JAK2) gene mutation. [1] Oral contraceptive use or pregnancy are other non-inherited tendencies for thrombosis. [citation needed]
Janus kinase 2 (commonly called JAK2) is a non-receptor tyrosine kinase.It is a member of the Janus kinase family and has been implicated in signaling by members of the type II cytokine receptor family (e.g. interferon receptors), the GM-CSF receptor family (IL-3R, IL-5R and GM-CSF-R), the gp130 receptor family (e.g., IL-6R), and the single chain receptors (e.g. Epo-R, Tpo-R, GH-R, PRL-R).
Janus kinase (JAK) is a family of intracellular, non-receptor tyrosine kinases that transduce cytokine-mediated signals via the JAK-STAT pathway.They were initially named "just another kinase" 1 and 2 (since they were just two of many discoveries in a PCR-based screen of kinases), [1] but were ultimately published as "Janus kinase".
Polycythemia vera (PV) is associated most often with the JAK2 V617F mutation greater than 95% of cases, whereas the remainder has a JAK2 exon 12 mutations. High hemoglobin or hematocrit counts are required, as is a bone marrow examination showing "prominent erythroid , granulocytic and megakaryocytic proliferation with pleomorphic, mature ...
This is a shortened version of the eleventh chapter of the ICD-9: Complications of Pregnancy, Childbirth, and the Puerperium. It covers ICD codes 630 to 679 . The full chapter can be found on pages 355 to 378 of Volume 1, which contains all (sub)categories of the ICD-9.
Primary myelofibrosis (PMF) is a rare bone marrow blood cancer. [1] It is classified by the World Health Organization (WHO) as a type of myeloproliferative neoplasm, a group of cancers in which there is activation and growth of mutated cells in the bone marrow.