Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Germline JAK2 R564Q variants presenting as hereditary thrombocytosis: case report.
Franco S et al.
Bjc Reports, 2025
Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.
Meintani A et al.
International Journal of Molecular Sciences, 2025
JAK2 p.R564 germ line variants associated with hereditary thrombocythemia and hematologic neoplasms.
Stewart BL et al.
Blood Advances, 2025
Germ line JAK2 variants and hereditary blood cancers.
Cannova J 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
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
Risk prediction for clonal cytopenia: multicenter real-world evidence.
Xie Z et al.
Blood, 2024
High-resolution melting assay for rapid, simultaneous detection of JAK2, MPL and CALR variants.
Sande CM et al.
Journal of Clinical Pathology, 2024
Clinical characterization of the mutational landscape of 24,639 real-world samples from patients with myeloid malignancies.
Hogg G et al.
Cancer Genetics, 2023
JAK2 Mutations Are Rare and Diverse in Myelodysplastic Syndromes: Case Series and Review of the Literature.
Delio M et al.
Hematology Reports, 2023
JAK2 rs10974944 is associated with both V617F-positive and negative myeloproliferative neoplasms in a Vietnamese population: A potential genetic marker.
Ngoc NT et al.
Molecular Genetics & Genomic Medicine, 2022
Janus kinase 2 variants associated with the transformation of myeloproliferative neoplasms into acute myeloid leukemia.
Benton CB et al.
Cancer, 2019
Genetic and Transcriptomic Variation Linked to Neutrophil Granulocyte-Macrophage Colony-Stimulating Factor Signaling in Pediatric Crohn's Disease.
Denson LA et al.
Inflammatory Bowel Diseases, 2019
A novel activating, germline JAK2 mutation, JAK2R564Q, causes familial essential thrombocytosis.
Etheridge SL et al.
Blood, 2014
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
Predicting the functional impact of protein mutations: application to cancer genomics.
Reva B et al.
Nucleic Acids Research, 2011
Jak/STAT pathways in cytokine signaling and myeloproliferative disorders: approaches for targeted therapies.
Jatiani SS et al.
Genes & Cancer, 2010
Structural effects of clinically observed mutations in JAK2 exons 13-15: comparison with V617F and exon 12 mutations.
Lee TS et al.
Bmc Structural Biology, 2009
Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis.
Levine RL et al.
Cancer Cell, 2005