PD‐L1 overexpression correlates with JAK2‐V617F mutational burden and is associated with 9p uniparental disomy in myeloproliferative neoplasms
Sign Up to like & getrecommendations! Published in 2022 at "American Journal of Hematology"
DOI: 10.1002/ajh.26461
Abstract: Myeloproliferative neoplasms (MPN) are chronic stem cell disorders characterized by enhanced proliferation of myeloid cells, immune deregulation, and drug resistance. JAK2 somatic mutations drive the disease in 50–60% and CALR mutations in 25–30% of cases.… read more here.
Keywords: jak2; v617f mutational; jak2 v617f; myeloproliferative neoplasms ... See more keywords
Hematological relevance of JAK2 V617F and calreticulin mutations in Tunisian patients with essential thrombocythemia
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.24522
Abstract: The genetic investigation of essential thrombocythemia(ET) has highlighted the presence of driver mutations in ET. Janus kinase JAK2V617F and calreticulin(CALR) mutations are the most frequent driver mutations and have significantly improved the molecular diagnosis of… read more here.
Keywords: essential thrombocythemia; calreticulin; v617f calreticulin; hematological relevance ... See more keywords
International external quality assurance of JAK2 V617F quantification
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DOI: 10.1007/s00277-018-3570-8
Abstract: External quality assurance (EQA) programs are vital to ensure high quality and standardized results in molecular diagnostics. It is important that EQA for quantitative analysis takes into account the variation in methodology. Results cannot be… read more here.
Keywords: jak2 v617f; jak2; external quality; quantification ... See more keywords
The relationship between JAK2(V617F) mutation and dermatomyositis—a case report and literature review
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DOI: 10.1007/s10067-020-05286-y
Abstract: The JAK family (JAK1, JAK2, JAK3, and TYK2) have recently emerged as a potential therapeutic management in controlling severe and refractory dermatomyositis. Meanwhile, the progress in the discovery of JAK blockers is significant, with an… read more here.
Keywords: dermatomyositis; v617f mutation; jak2 v617f; case ... See more keywords
Phenformin increases early hematopoietic progenitors in the Jak2V617F murine model
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DOI: 10.1007/s10637-022-01212-y
Abstract: Background. Myeloproliferative neoplasms (MPN) are disorders characterized by an alteration at the hematopoietic stem cell (HSC) level, where the JAK2 mutation is the most common genetic alteration found in classic MPN (polycythemia vera, essential thrombocythemia,… read more here.
Keywords: jak2; jak2 v617f; phenformin; early hematopoietic ... See more keywords
The multi-site docking protein Gab1 is constitutively phosphorylated independent from its recruitment to the plasma membrane in Jak2-V617F-positive cells and mediates proliferation of human erythroleukaemia cells.
Sign Up to like & getrecommendations! Published in 2017 at "Cellular signalling"
DOI: 10.1016/j.cellsig.2017.03.021
Abstract: The constitutively active Janus kinase 2 mutant Jak2-V617F is responsible for cytokine-independent growth of hematopoietic cells and the development of myeloproliferative neoplasms, such as polycythaemia vera and essential thrombocythaemia. Cells expressing Jak2-V617F exhibit constitutive STAT,… read more here.
Keywords: jak2 v617f; plasma membrane; gab1;
Factors related to the development of acquired von Willebrand syndrome in patients with essential thrombocythemia and polycythemia vera.
Sign Up to like & getrecommendations! Published in 2017 at "European journal of internal medicine"
DOI: 10.1016/j.ejim.2016.11.011
Abstract: OBJECTIVE We characterized acquired von Willebrand syndrome (AVWS) among essential thrombocythemia (ET) and polycythemia vera (PV) patients. METHODS A review of patients with ET or PV evaluated for AVWS. RESULTS Of 116 patients with ET,… read more here.
Keywords: jak2 v617f; among patients; von willebrand; platelet ... See more keywords
Transcriptional differences between JAK2-V617F and wild-type bone marrow cells in myeloproliferative neoplasm patients.
Sign Up to like & getrecommendations! Published in 2021 at "Experimental hematology"
DOI: 10.1016/j.exphem.2021.12.364
Abstract: The JAK2-V617F mutation is the most common cause of myeloproliferative neoplasms. While experiments have shown that this gain-of-function mutation is associated with myeloid blood cell expansion and increased production of white cells, red cells and… read more here.
Keywords: jak2 v617f; mutation; bone marrow; marrow cells ... See more keywords
Phase 2 study of gandotinib (LY2784544) in patients with myeloproliferative neoplasms.
Sign Up to like & getrecommendations! Published in 2018 at "Leukemia research"
DOI: 10.1016/j.leukres.2018.06.014
Abstract: BACKGROUND The Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs) are associated with increases in janus kinase 2 (JAK2) signaling, often resulting from the JAK2 V617F mutation. LY2784544 (gandotinib) is a potent, selective, small-molecule inhibitor of JAK2 that… read more here.
Keywords: jak2 v617f; myeloproliferative neoplasms; phase study; jak2 ... See more keywords
Successful treatment for a patient with chronic thromboembolic pulmonary hypertension comorbid with essential thrombocythemia with the JAK2 V617F mutation by balloon pulmonary angioplasty
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DOI: 10.1016/j.rmcr.2020.101235
Abstract: A-71-year-old woman was diagnosed as chronic thromboembolic pulmonary hypertension (CTEPH) accompanied by essential thrombocythemia (ET) with JAK2 V617F mutation. Blood test showed remarkable increase of platelet counts (132.9 × 10^4/μL) and elevated plasma BNP level… read more here.
Keywords: jak2 v617f; chronic thromboembolic; v617f mutation;
Life histories of myeloproliferative neoplasms inferred from phylogenies
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DOI: 10.1038/s41586-021-04312-6
Abstract: Mutations in cancer-associated genes drive tumour outgrowth, but our knowledge of the timing of driver mutations and subsequent clonal dynamics is limited 1 – 3 . Here, using whole-genome sequencing of 1,013 clonal haematopoietic colonies… read more here.
Keywords: jak2 v617f; myeloproliferative neoplasms; driver mutations; acquisition ... See more keywords