Associated Papers
Non-MPL-W515K/L mutations in myeloproliferative neoplasms: Insights from two case reports and a review of the literature.
Tønne Nesse AS et al.
Expert Review of Hematology, 2025
Relationship between additional mutations at diagnosis and treatment response in patients with essential thrombocythemia.
Mosnier C et al.
Blood Advances, 2025
Spotlight on amino acid changing mutations in the JAK-STAT pathway: from disease-specific mutation to general mutation databases.
Hoffmann M et al.
Scientific Reports, 2025
Unraveling the germline inheritance of the JAK2F556V gene mutation in familial thrombocythemia: a comprehensive analysis of 11 family members and potential implications for surveillance.
Meggendorfer M et al.
Haematologica, 2025
JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders.
Djidjik R et al.
Frontiers in Immunology, 2025
Insights into the role of JAK2-I724T variant in myeloproliferative neoplasms from a unique cohort of New Zealand patients.
Puli'uvea C et al.
Hematology (amsterdam, Netherlands), 2024
Molecular Genetic Profile of Myelofibrosis: Implications in the Diagnosis, Prognosis, and Treatment Advancements.
Verma T et al.
Cancers, 2024
Genetic background of thrombocytosis in mice mimicking hereditary thrombocytosis in humans.
Kimura H et al.
Platelets, 2023
Mining cancer genomes for change-of-metabolic-function mutations.
Tu KJ et al.
Communications Biology, 2023
JAK2 p.V617F Variants in Non-Blood DNA from Patients with Polycythemia Vera
Mori N et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2023
Diagnosis- and Prognosis-Related Gene Alterations in BCR::ABL1-Negative Myeloproliferative Neoplasms.
Morishita S et al.
International Journal of Molecular Sciences, 2023
Genetic basis and molecular profiling in myeloproliferative neoplasms.
Luque Paz D et al.
Blood, 2023
Whole-exome sequencing in 415,422 individuals identifies rare variants associated with mitochondrial DNA copy number.
Pillalamarri V et al.
Hgg Advances, 2023
Histological and genetic characterization and follow-up of 130 patients with chronic triple-negative thrombocytosis.
Lemoine S et al.
Haematologica, 2022
Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.
Liu T et al.
Nature Communications, 2022
Next-generation sequencing redefines the diagnosis of triple-negative myeloproliferative neoplasms.
Wu S et al.
Annals of Hematology, 2022
Case report: Double L611S/V617L JAK2 mutation in a patient with polycythemia vera originally diagnosed with essential thrombocythemia.
Li XQ et al.
Frontiers in Oncology, 2022
A typical acute lymphoblastic leukemia JAK2 variant, R683G, causes an aggressive form of familial thrombocytosis when germline.
Carreño-Tarragona G et al.
Leukemia, 2021
Hereditary thrombocytosis: the genetic landscape.
Han EY et al.
British Journal of Haematology, 2021
GATA1 mutation analysis and molecular landscape characterization in acute myeloid leukemia with trisomy 21 in pediatric patients.
Panferova A et al.
International Journal of Laboratory Hematology, 2021
Thrombocytosis in children and adolescents-classification, diagnostic approach, and clinical management.
Stockklausner C et al.
Annals of Hematology, 2021
Targeted Sequencing of Taiwanese Breast Cancer with Risk Stratification by the Concurrent Genes Signature: A Feasibility Study.
Huang CS et al.
Journal of Personalized Medicine, 2021
Untwining Anti-Tumor and Immunosuppressive Effects of JAK Inhibitors-A Strategy for Hematological Malignancies?
Klein K et al.
Cancers, 2021
Germline JAK2 V617F mutation as a susceptibility gene causing myeloproliferative neoplasm in first-degree relatives.
Park HS et al.
Leukemia & Lymphoma, 2020
Integration of intra-sample contextual error modeling for improved detection of somatic mutations from deep sequencing.
Abelson S et al.
Science Advances, 2020
Germline genetic factors in the pathogenesis of myeloproliferative neoplasms.
Bellanné-Chantelot C et al.
Blood Reviews, 2020
A novel JAK2 R564* variant in a patient with thrombocytosis.
Villanueva A et al.
International Journal of Laboratory Hematology, 2020
Diagnostic workflow for hereditary erythrocytosis and thrombocytosis.
McMullin MF
Hematology. American Society of Hematology. Education Program, 2019
Concomitant and noncanonical JAK2 and MPL mutations in JAK2V617F- and MPLW515 L-positive myelofibrosis.
Schulze S et al.
Genes, Chromosomes & Cancer, 2019
Experimental Modeling of Myeloproliferative Neoplasms.
Lanikova L et al.
Genes, 2019
Next generation sequencing redefines a triple negative essential thrombocythaemia as double-positive with rare mutations on JAK2 V617 and MPL W515 hotspots.
Beucher A et al.
British Journal of Haematology, 2019
Heterogeneity in myeloproliferative neoplasms: Causes and consequences.
O'Sullivan J et al.
Advances in Biological Regulation, 2019
Germline JAK2 L611S mutation in a child with thrombocytosis.
Aral B et al.
Haematologica, 2018
Myeloproliferative neoplasms: from origins to outcomes.
Nangalia J et al.
Blood, 2017
Advances in understanding the pathogenesis of familial myeloproliferative neoplasms.
Rumi E et al.
British Journal of Haematology, 2017
Diagnosis, risk stratification, and response evaluation in classical myeloproliferative neoplasms.
Rumi E et al.
Blood, 2017
Genetic Alterations of the Thrombopoietin/MPL/JAK2 Axis Impacting Megakaryopoiesis.
Plo I et al.
Frontiers in Endocrinology, 2017
A Polycythemia Vera JAK2 Mutation Masquerading as a Duodenal Cancer Mutation.
Lee J et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 2016
Coexistence of gain-of-function JAK2 germ line mutations with JAK2V617F in polycythemia vera.
Lanikova L et al.
Blood, 2016
JAK2(V617I) results in cytokine hypersensitivity without causing an overt myeloproliferative disorder in a mouse transduction-transplantation model.
Brooks SA et al.
Experimental Hematology, 2016
Analysis of JAK2V617F mutation in Jordanian patients with myeloproliferative neoplasms.
Jaradat SA et al.
Hematology/oncology and Stem Cell Therapy, 2015
An unusual long-term outcome of a child with primary myelofibrosis harboring a JAK2 mutation.
Maia RC et al.
Blood Cells, Molecules & Diseases, 2015
Back to biology: new insights on inheritance in myeloproliferative disorders.
Braunstein EM et al.
Current Hematologic Malignancy Reports, 2014
Myeloproliferative neoplasms: JAK2 signaling pathway as a central target for therapy.
Pasquier F et al.
Clinical Lymphoma, Myeloma & Leukemia, 2014
Hereditary erythrocytosis, thrombocytosis and neutrophilia.
Hong WJ et al.
Best Practice & Research. Clinical Haematology, 2014
Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors.
Marty C et al.
Blood, 2014
A novel activating, germline JAK2 mutation, JAK2R564Q, causes familial essential thrombocytosis.
Etheridge SL et al.
Blood, 2014