نتایج جستجو برای: calr
تعداد نتایج: 723 فیلتر نتایج به سال:
Calreticulin (CALR) mutations have recently been reported in 70-84% of JAK2V617F-negative myeloproliferative neoplasms (MPN), and this detection has become necessary to improve the diagnosis of MPN. In a large single-centre cohort of 298 patients suffering from Essential Thrombocythemia (ET), the JAK2V617F, CALR and MPL mutations were noted in 179 (60%), 56 (18.5%) and 13 (4.5%) respectively. F...
AIMS Myeloproliferative neoplasms (MPN) are a heterogeneous group of clonal proliferative bone marrow diseases characterised by extensive megakaryocytic hyperplasia and morphological atypia. Despite knowledge of genomic defects, the pathobiological processes driving these megakaryocytic abnormalities in MPN remain poorly explained. We have explored the proliferative, apoptotic and epigenetic pr...
The role of antiplatelet therapy as primary prophylaxis of thrombosis in low-risk essential thrombocythemia has not been studied in randomized clinical trials. We assessed the benefit/risk of low-dose aspirin in 433 patients with low-risk essential thrombocythemia (271 with a CALR mutation, 162 with a JAK2(V617F) mutation) who were on antiplatelet therapy or observation only. After a follow up ...
Retinal neovascularization in the setting of <i>CALR</i>-mutation positive essential thrombocythemia
Patients with Calreticulin ( CALR) mutation positive essential thrombocythemia are often thought of as having a “low-risk” thrombotic complications. This report examines case patient CALR-mutation presenting peripheral retinal ischemia and subsequent neovascularization. had 2-year documented history maximum platelet count over 800,000 cells/µL. Fluorescein angiogram showed significant leakage i...
Calreticulin (CALR) is a highly conserved multifunctional chaperone protein primarily present in the endoplasmic reticulum, where it regulates Ca2+ homeostasis. Recently, CALR has gained special interest for its diverse functions outside including cell surface and extracellular space. Although high-resolution structures of exist, not yet been established how different regions individual amino a...
AIMS Megakaryocyte expansion in myeloproliferative neoplasms (MPNs) is due to uncontrolled proliferation accompanied by dysregulation of proapoptotic and antiapoptotic mechanisms. Here we have investigated the intrinsic and extrinsic apoptotic pathways of megakaryocytes in human MPNs to further define the mechanisms involved. METHODS The megakaryocytic expression of proapoptotic caspase-8, ca...
DISEASE OVERVIEW Primary myelofibrosis (PMF) is a myeloproliferative neoplasm characterized by stem cell-derived clonal myeloproliferation, abnormal cytokine expression, bone marrow fibrosis, anemia, splenomegaly, extramedullary hematopoiesis (EMH), constitutional symptoms, cachexia, leukemic progression, and shortened survival. DIAGNOSIS DIAGNOSIS is based on bone marrow morphology. The pres...
Myeloproliferative neoplasms (MPNs) are clonal hematopoietic stem cell disorders characterized by the proliferation of one or more myeloid lineages. The current study demonstrates that three driver mutations were detected in 82.6% of 407 MPNs with a mutation distribution of JAK2 in 275 (67.6%), CALR in 55 (13.5%) and MPL in 6 (1.5%). The mutations were mutually exclusive in principle except in ...
اکثر مطالعات همراهی پلی مورفیسم های تک نوکلوتیدی دارای مشکل عدم تجدید پذیری هستند که این امر توالی یابی دوباره ژن ها به منظور شناسایی واریانت های نادر جدید و جهش های مضر را ضروری می سازد. در پژوهش های اخیر جهش های عملکردی در توالی پروموتری ژن کلرتیکولین ((calr در طیف بیماران سایکوز گزارش شده است که در جمعیت کنترل وجود ندارد. ژن aft6 (activating transcription factor 6)، یک فاکتور رونویسی مهم و ...
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