Associated Papers
Rare STAT1 variants in Moroccan tuberculosis patients: insights into host genetic susceptibility.
Zaidi S et al.
Clinical and Experimental Immunology, 2026
Investigation of the transcriptional impact of rare germline JAK/STAT variants found in a Tyrolean alpine community.
Hennighausen L et al.
Bmc Genomics, 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
RNA hybrid-capture next-generation sequencing has high sensitivity in identifying known and less characterized oncogenic and likely oncogenic NTRK fusions in a real-world standard-of-care setting.
Wallen ZD et al.
Frontiers in Genetics, 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
Novel germline JAK2R715T mutation causing PV-like erythrocytosis in 3 generations. Amelioration by Ropeg-Interferon.
Song J et al.
American Journal of Hematology, 2024
Mutation Patterns Predict Drug Sensitivity in Acute Myeloid Leukemia.
Qin G et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
Targeted NGS analysis reveals a complex genetic background of idiopathic erythrocytosis in a large Venetian family.
Bertozzi I et al.
Genes & Diseases, 2024
Coexistence of Multiple Gene Variants in Some Patients with Erythrocytoses.
Benetti A et al.
Mediterranean Journal of Hematology and Infectious Diseases, 2024
Genomic profiling of NSCLC tumors with the TruSight oncology 500 assay provides broad coverage of clinically actionable genomic alterations and detection of known and novel associations between genomic alterations, TMB, and PD-L1.
Wallen ZD et al.
Frontiers in Oncology, 2024
Molecular landscape of the JAK2 gene in chronic myeloproliferative neoplasm patients from the state of Amazonas, Brazil.
Torres DG et al.
Biomedical Reports, 2023
Structural Analysis of Janus Tyrosine Kinase Variants in Hematological Malignancies: Implications for Drug Development and Opportunities for Novel Therapeutic Strategies.
Rodriguez Moncivais OJ et al.
International Journal of Molecular Sciences, 2023
Whole-Exome Sequencing in a Family with an Unexplained Tendency for Venous Thromboembolism: Multicomponent Prediction of Low-Frequency Variant Deleteriousness and of Individual Protein Interaction.
Lunghi B et al.
International Journal of Molecular Sciences, 2023
Presence of Myeloid Mutations in Patients with Chronic Myeloid Leukemia Increases Risk of Cardiovascular Event on Tyrosine Kinase Inhibitor Treatment.
Stuckey R et al.
Cancers, 2023
Deregulation of JAK2 signaling underlies primary cutaneous CD8+ aggressive epidermotropic cytotoxic T-cell lymphoma.
Bastidas Torres AN et al.
Haematologica, 2022
Pathogenic "germline" variants associated with myeloproliferative disorders in apparently normal individuals: Inherited or acquired genetic alterations?
Veitia RA et al.
Clinical Genetics, 2022
Cell-Free Total Nucleic Acid-Based Genotyping of Aggressive Lymphoma: Comprehensive Analysis of Gene Fusions and Nucleotide Variants by Next-Generation Sequencing.
Mokánszki A et al.
Cancers, 2021
Recent Advances in the Use of Molecular Analyses to Inform the Diagnosis and Prognosis of Patients with Polycythaemia Vera.
Stuckey R et al.
International Journal of Molecular Sciences, 2021
Germline genetic factors in the pathogenesis of myeloproliferative neoplasms.
Bellanné-Chantelot C et al.
Blood Reviews, 2020
A novel targeted RNA-Seq panel identifies a subset of adult patients with acute lymphoblastic leukemia with BCR-ABL1-like characteristics.
Sánchez R et al.
Blood Cancer Journal, 2020
Neutrophil GM-CSF signaling in inflammatory bowel disease patients is influenced by non-coding genetic variants.
Venkateswaran S et al.
Scientific Reports, 2019
Janus kinase 2 variants associated with the transformation of myeloproliferative neoplasms into acute myeloid leukemia.
Benton CB et al.
Cancer, 2019
Familial MPN Predisposition.
Tashi T et al.
Current Hematologic Malignancy Reports, 2017
Coexistence of gain-of-function JAK2 germ line mutations with JAK2V617F in polycythemia vera.
Lanikova L et al.
Blood, 2016
Search for mutations in signaling pathways in head and neck squamous cell carcinoma.
De Carvalho TG et al.
Oncology Reports, 2013
Lack of JAK2 activating non-synonymous mutations in diffuse large B-cell tumors: JAK2 deregulation still unexplained.
Witzig TE et al.
Leukemia & Lymphoma, 2013
Deep resequencing of GWAS loci identifies rare variants in CARD9, IL23R and RNF186 that are associated with ulcerative colitis.
Beaudoin M et al.
Plos Genetics, 2013
A new potential oncogenic mutation in the FERM domain of JAK2 in BCR/ABL1-negative and V617F-negative chronic myeloproliferative neoplasms revealed by a comprehensive screening of 17 tyrosine kinase coding genes.
Aranaz P et al.
Cancer Genetics and Cytogenetics, 2010
Clinical and molecular profile of a Brazilian cohort of patients with classical BCR-ABL1-negative myeloproliferative neoplasms.
Porto-Soares MA et al.
Hematology, Transfusion and Cell Therapy, 0