Associated Papers
Investigation of the transcriptional impact of rare germline JAK/STAT variants found in a Tyrolean alpine community.
Hennighausen L et al.
Bmc Genomics, 2025
Germline Jak2-R1063H mutation interferes with normal hematopoietic development and increases risk of thrombosis and leukemic transformation.
Zimolova V et al.
Leukemia, 2025
Germline JAK2 R564Q variants presenting as hereditary thrombocytosis: case report.
Franco S et al.
Bjc Reports, 2025
Dr. Kinase: predicting the drug-resistance hotspots of protein kinases.
Lin S et al.
Nucleic Acids Research, 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
Identification of EPOR and JAK2 double heterozygous variants in twin cases with familial erythrocytosis.
Li W et al.
Science China. Life Sciences, 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
Integrating functional proteomics and next generation sequencing reveals potential therapeutic targets for Taiwanese breast cancer.
Ku WC et al.
Clinical Proteomics, 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
Genomic profiling of pediatric hematologic malignancies and diagnosis of cancer predisposition syndromes: tumoronly versus paired tumor-normal sequencing.
Newman H et al.
Haematologica, 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
Broad Next-Generation Integrated Sequencing of Myelofibrosis Identifies Disease-Specific and Age-Related Genomic Alterations.
Kandarpa M et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
Clinical laboratory characteristics and gene mutation spectrum of Ph-negative MPN patients with atypical variants of JAK2, MPL, or CALR.
Wang Z et al.
Cancer Medicine, 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
Novel, clinically relevant genomic patterns identified by comprehensive genomic profiling in ATRX-deficient IDH-wildtype adult high-grade gliomas.
Bedics G et al.
Scientific Reports, 2023
Real-world performance analysis of a novel computational method in the precision oncology of pediatric tumors.
Vodicska B et al.
World Journal of Pediatrics : Wjp, 2023
A novel germline hyperactivating JAK2 mutation L604F.
Dvořáček L et al.
Annals of Hematology, 2023
A Potential Novel Entity for Polycythemia Vera: JAK2 Exon 24 Mutation.
Turgutkaya A et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 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
Clinical Characteristics and Outcomes of Patients with Primary and Secondary Myelofibrosis According to the Genomic Classification Using Targeted Next-Generation Sequencing.
Garrote M et al.
Cancers, 2023
Germline JAK2 E846D Substitution as the Cause of Erythrocytosis?
Maaziz N et al.
Genes, 2023
Characteristics and prognosis of rrDLBCL with TP53 mutations and a high-risk subgroup represented by the co-mutations of DDX3X-TP53.
Gao F et al.
Cancer Medicine, 2023
Genetic basis and molecular profiling in myeloproliferative neoplasms.
Luque Paz D et al.
Blood, 2023
Identification of germline cancer predisposition variants in pediatric sarcoma patients from somatic tumor testing.
Alba-Pavón P et al.
Scientific Reports, 2023
Histological and genetic characterization and follow-up of 130 patients with chronic triple-negative thrombocytosis.
Lemoine S et al.
Haematologica, 2022
Heterozygous, germline JAK2 E846D substitution as the cause of familial erythrocytosis.
Tun PWW et al.
British Journal of Haematology, 2022
The genomic analysis brings a new piece to the molecular jigsaw of idiopathic erythrocytosis.
Zagaria A et al.
Experimental Hematology & Oncology, 2022
Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test.
Nazarenko MS et al.
International Journal of Molecular Sciences, 2022
Clonal Hematopoiesis at the Crossroads of Inflammatory Bowel Diseases and Hematological Malignancies: A Biological Link?
Cumbo C et al.
Frontiers in Oncology, 2022
Actionable Molecular Alterations Are Revealed in Majority of Advanced Non-Small Cell Lung Cancer Patients by Genomic Tumor Profiling at Progression after First Line Treatment.
Frank MS et al.
Cancers, 2021
Somatic Mutations in Circulating Cell-Free DNA and Risk for Hepatocellular Carcinoma in Hispanics.
Jiao J et al.
International Journal of Molecular Sciences, 2021
The Mutational Landscape of Acute Myeloid Leukaemia Predicts Responses and Outcomes in Elderly Patients from the PETHEMA-FLUGAZA Phase 3 Clinical Trial.
Ayala R et al.
Cancers, 2021
Genetic analysis of 39 erythrocytosis and hereditary hemochromatosis-associated genes in the Slovenian family with idiopathic erythrocytosis.
Kristan A et al.
Journal of Clinical Laboratory Analysis, 2021
Genetics of Myeloproliferative Neoplasms.
Szybinski J et al.
Hematology/oncology Clinics of North America, 2021
Diagnosis and prognosis are supported by integrated assessment of next-generation sequencing in chronic myeloid malignancies. A real-life study.
Vantyghem S et al.
Haematologica, 2021
Genetic Landscape of Relapsed and Refractory Diffuse Large B-Cell Lymphoma: A Systemic Review and Association Analysis With Next-Generation Sequencing.
Gao F et al.
Frontiers in Genetics, 2021
Germline genetic factors in the pathogenesis of myeloproliferative neoplasms.
Bellanné-Chantelot C et al.
Blood Reviews, 2020
Myeloproliferative Diseases as Possible Risk Factor for Development of Chronic Thromboembolic Pulmonary Hypertension-A Genetic Study.
Eichstaedt CA et al.
International Journal of Molecular Sciences, 2020