Results 61 to 70 of about 5,550 (180)

Identification of JAK2 exon 12 mutations in patients with polycythemia vera

Zdravniški Vestnik, 2012
Background: Polycythemia vera (PV) is characterized by erythrocytosis and mutation in JAK2 gene. More than 95 % of patients with PV have somatic mutation JAK2 V617F.
Marija Jedrt Mandelc Mazaj, Sašenka Lozar, Peter Černelč, Tadej Pajič   +3 more
doaj  

Hidden in Plain Sight: Systemic Mastocytosis Manifesting as Isolated Hepatosplenomegaly in the Absence of Cutaneous and Classical Manifestations—A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Systemic mastocytosis (SM) is a rare clonal myeloproliferative neoplasm typically characterized by cutaneous lesions and mediator‐release symptoms. Presentations dominated by visceral organ involvement without skin findings are uncommon and pose a significant diagnostic challenge, often mimicking hematologic malignancies.
Muhammad Sadam Zeb, Ubaid Ullah Mian, Kashif Khan, Aiman Gulalay, Alishba Hameed, Alyan Malook, Essam Saeed, Suleman Khan, Muhammad Mujtaba, Kamil Ahmad Kamil   +9 more
wiley   +1 more source

JAK2 mutation status, hemostatic risk factors and thrombophilic factors in essential thrombocythemia (ET) patients

Folia Histochemica et Cytobiologica, 2011
The recently discovered JAK2 V617F point mutation, found in 50–60% of ET patients, has been reported to be associated with a higher risk of thrombotic events.
Anna Dmoszyńska, Martyna Kandefer-Szerszeń, Anna M. Kowalska, Tomasz Gromek, Adam Walter-Croneck, Katarzyna Wejksza, Sylwia Chocholska, Ksenia Bykowska, Aleksandra Nowaczyńska, Bożena Sokołowska   +9 more
doaj   +1 more source

Benign Metastasizing Leiomyoma With Myomatous Erythrocytosis Syndrome: First Reported Coexistence as a Unified Hormonal Syndrome

Respirology Case Reports, Volume 14, Issue 7, July 2026.
Time course of haemoglobin (red, left axis) and serum erythropoietin (blue, right axis) before and after hysterectomy with bilateral salpingo‐oophorectomy (BSO, green vertical line, 31 July 2025), showing normalization of both parameters following tumour resection.
Venkatkiran Kanchustambham, Ashley McWalter, Oluwatobi E. Odetola, Recep Nigdelioglu   +3 more
wiley   +1 more source

Abdominal venous thrombosis presenting in myeloproliferative neoplasm with JAK2 V617F mutation: a case report

Journal of Medical Case Reports, 2012
Introduction An unprovoked thombotic event in a patient is cause for further evaluation of an underlying hypercoaguable state. The investigation should include a thorough search, including checking for a variety of known inherited and acquired ...
Pemmaraju Naveen, Hamilton James, Cameron Andrew M, Sisson Stephen, Moliterno Alison R   +4 more
doaj   +1 more source

Positive and Negative Cardiovascular Effects of JAK Inhibitors in Inflammation

ACR Open Rheumatology, Volume 8, Issue 6, June 2026.
Chronic inflammation, characteristic of many autoimmune diseases, such as rheumatoid arthritis (RA), or myeloproliferative neoplasms (MPNs), is an independent driver of accelerated cardiovascular (CV) risk, primarily through proinflammatory cytokines that induce atherosclerosis and endothelial dysfunction.
Aliki Zavoriti, Pierre Miossec
wiley   +1 more source

Purine and Pyrrolopyrimidine‐Based Small Molecules as Multitarget Therapeutics

Archiv der Pharmazie, Volume 359, Issue 6, June 2026.
Purine and pyrrolopyrimidine scaffolds target multiple oncogenic pathways: cyan kinases (VEGFR‐2, Aurora A, JAK2); red epigenetic/chaperone regulators (HDAC6, BRD4, Hsp90); blue efflux and signaling/sensory modulators (MRP1, PDE, TLR, TRPA1); yellow folate‐pathway enzymes (TS, DHFR, GARFTase), defining a dual‐scaffold platform for multi‐target ...
Federica Borghi, Antonio Laus, Claudia Sorbi, Giulio Rastelli   +3 more
wiley   +1 more source

Analysis of phenotype and outcome in essential thrombocythemia with CALR or JAK2 mutations

Haematologica, 2015
The JAK2 V617F mutation, the thrombopoietin receptor MPL W515K/L mutation and calreticulin (CALR) mutations are mutually exclusive in essential thrombocythemia and support a novel molecular categorization of essential thrombocythemia.
Carla Al Assaf, Florence Van Obbergh, Johan Billiet, Els Lierman, Timothy Devos, Carlos Graux, Anne-Sophie Hervent, Jan Emmerechts, Thomas Tousseyn, Pascale De Paepe, Petros Papadopoulos, Lucienne Michaux, Peter Vandenberghe   +12 more
doaj   +1 more source

Serum Has Higher Proportion of Janus Kinase 2 V617F Mutation Compared to Paired EDTA-Whole Blood Sample: A Model for Somatic Mutation Quantification Using qPCR and the 2^-∆∆Cq Method

Diagnostics, 2020
Detection of the Janus Kinase-2 (JAK2) V617F mutation is a diagnostic criterion for myeloproliferative neoplasms, and high levels of mutant alleles are associated with worse outcomes.
Gustavo Barcelos Barra, Ticiane Henriques Santa Rita, Ana Luisa Santa Cruz Almeida, Rafael Henriques Jácomo, Lídia Freire Abdalla Nery   +4 more
doaj   +1 more source

Pseudotumor Cerebri Syndrome and Essential Thrombocythemia: A Case Report

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Pseudotumor cerebri syndrome (PTCS) is characterized by elevated intracranial pressure in the absence of intracranial mass lesions, structural abnormalities, or infectious conditions. Although the exact pathogenesis of PTCS remains largely elusive, it is increasingly recognized as a multifactorial condition.
Fang‐Tzu Chang, Yi‐Ying Chen, Fu‐Yu Lin   +2 more
wiley   +1 more source