Associated Papers
Germline Jak2-R1063H mutation interferes with normal hematopoietic development and increases risk of thrombosis and leukemic transformation.
Zimolova V et al.
Leukemia, 2025
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
Dr. Kinase: predicting the drug-resistance hotspots of protein kinases.
Lin S et al.
Nucleic Acids Research, 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
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
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
Novel germline JAK2R715T mutation causing PV-like erythrocytosis in 3 generations. Amelioration by Ropeg-Interferon.
Song J et al.
American Journal of Hematology, 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
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
A novel germline hyperactivating JAK2 mutation L604F.
Dvořáček L et al.
Annals of Hematology, 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
Leukocytes carrying Clonal Hematopoiesis of Indeterminate Potential (CHIP) Mutations invade Human Atherosclerotic Plaques.
von Scheidt M et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Altered cytoplasmic and nuclear ADP-ribosylation levels analyzed with an improved ADP-ribose binder are a prognostic factor in renal cell carcinoma.
Schraml P et al.
The Journal of Pathology. Clinical Research, 2023
Germline JAK2 E846D Substitution as the Cause of Erythrocytosis?
Maaziz N et al.
Genes, 2023
Genetic basis and molecular profiling in myeloproliferative neoplasms.
Luque Paz D et al.
Blood, 2023
Base editing screens map mutations affecting interferon-γ signaling in cancer.
Coelho MA et al.
Cancer Cell, 2023
Histological and genetic characterization and follow-up of 130 patients with chronic triple-negative thrombocytosis.
Lemoine S et al.
Haematologica, 2022
Genomic Mutations of the STAT5 Transcription Factor Are Associated with Human Cancer and Immune Diseases.
Kim U et al.
International Journal of Molecular Sciences, 2022
Heterozygous, germline JAK2 E846D substitution as the cause of familial erythrocytosis.
Tun PWW et al.
British Journal of Haematology, 2022
Pathogenic "germline" variants associated with myeloproliferative disorders in apparently normal individuals: Inherited or acquired genetic alterations?
Veitia RA et al.
Clinical Genetics, 2022
Genomic Alterations in Human Papillomavirus-Positive and -Negative Conjunctival Squamous Cell Carcinomas.
Ramberg I et al.
Investigative Ophthalmology & Visual Science, 2021
Erythrocytosis: genes and pathways involved in disease development.
Gašperšič J et al.
Blood Transfusion = Trasfusione Del Sangue, 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
PARP inhibitor resistance and TP53 mutations in patients treated with olaparib for BRCA-mutated cancer: Four case reports.
Collot T et al.
Molecular Medicine Reports, 2021
Identification of Variants Associated With Rare Hematological Disorder Erythrocytosis Using Targeted Next-Generation Sequencing Analysis.
Kristan A et al.
Frontiers in Genetics, 2021
Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.
Williams EA et al.
Acta Neuropathologica Communications, 2020
Germline genetic factors in the pathogenesis of myeloproliferative neoplasms.
Bellanné-Chantelot C et al.
Blood Reviews, 2020
Experimental Modeling of Myeloproliferative Neoplasms.
Lanikova L et al.
Genes, 2019
Janus kinase 2 variants associated with the transformation of myeloproliferative neoplasms into acute myeloid leukemia.
Benton CB et al.
Cancer, 2019
Clinical utility of custom-designed NGS panel testing in pediatric tumors.
Surrey LF et al.
Genome Medicine, 2019
Increased burden of rare deleterious variants of the KCNQ1 gene in patients with large‑vessel ischemic stroke.
Janicki PK et al.
Molecular Medicine Reports, 2019
Next-generation sequencing for JAK2 mutation testing: advantages and pitfalls.
Maslah N et al.
Annals of Hematology, 2019
Somatic mutations in benign breast disease tissue and risk of subsequent invasive breast cancer.
Rohan TE et al.
British Journal of Cancer, 2018
Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.
Ross JS et al.
Cancer, 2018
Genetic Alterations in Essential Thrombocythemia Progression to Acute Myeloid Leukemia: A Case Series and Review of the Literature.
Ayres-Silva JP et al.
Frontiers in Oncology, 2018
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
Advances in understanding the pathogenesis of familial myeloproliferative neoplasms.
Rumi E et al.
British Journal of Haematology, 2017
Coexistence of gain-of-function JAK2 germ line mutations with JAK2V617F in polycythemia vera.
Lanikova L et al.
Blood, 2016
Cooperation of germ line JAK2 mutations E846D and R1063H in hereditary erythrocytosis with megakaryocytic atypia.
Kapralova K et al.
Blood, 2016