Associated Papers
Application of Targeted RNA-Sequencing in High-Risk B-Cell Acute Lymphoblastic Leukemia (B-ALL): Identifying Fusions, IKZF1 Deletions, and CRLF2 Expression in an Indian Cohort.
Gupta SK et al.
International Journal of Laboratory Hematology, 2026
Nucleotide Substitution Biases in Related Cancer Driver Genes.
Khadre A et al.
International Journal of Molecular Sciences, 2025
Clinical experience of using integrated whole genome and transcriptome sequencing as a framework for pediatric and adolescent acute myeloid leukemia diagnosis and risk assessment.
Voss RK et al.
Leukemia, 2025
Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.
Newman H et al.
Hemasphere, 2025
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Primary myelofibrosis with concurrent MPL and atypical JAK2 mutations.
Barua S et al.
Journal of Hematopathology, 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
RNA-seq-based miRNA signature as an independent predictor of relapse in pediatric B-cell acute lymphoblastic leukemia.
Kubota H et al.
Blood Advances, 2024
Genetic background of thrombocytosis in mice mimicking hereditary thrombocytosis in humans.
Kimura H et al.
Platelets, 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
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
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
Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.
Liu T et al.
Nature Communications, 2022
Hereditary thrombocytosis: the genetic landscape.
Han EY et al.
British Journal of Haematology, 2021
Identification of a JAK2 FERM Domain Variant Associated With Hereditary Thrombocytosis.
Müller J et al.
Hemasphere, 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
New progress in the study of germline susceptibility genes of myeloid neoplasms.
Bi L et al.
Oncology Letters, 2021
Germline genetic factors in the pathogenesis of myeloproliferative neoplasms.
Bellanné-Chantelot C et al.
Blood Reviews, 2020
Single-cell analysis based dissection of clonality in myelofibrosis.
Mylonas E et al.
Nature Communications, 2020
Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses.
James KN et al.
Npj Genomic Medicine, 2020
Diagnostic workflow for hereditary erythrocytosis and thrombocytosis.
McMullin MF
Hematology. American Society of Hematology. Education Program, 2019
Essential thrombocytosis attributed to JAK2-T875N germline mutation.
Yoshimitsu M et al.
International Journal of Hematology, 2019
Experimental Modeling of Myeloproliferative Neoplasms.
Lanikova L et al.
Genes, 2019
Disruption of R867 and Y613 interaction plays key roles in JAK2 R867Q mutation caused acute leukemia.
Wu QY et al.
International Journal of Biological Macromolecules, 2019
Germline JAK2 L611S mutation in a child with thrombocytosis.
Aral B et al.
Haematologica, 2018
Progression to polythythemia vera from familial thrombocytosis with germline JAK2 R867Q mutation.
Maie K et al.
Annals of Hematology, 2018
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
Identification of MPL R102P Mutation in Hereditary Thrombocytosis.
Bellanné-Chantelot C et al.
Frontiers in Endocrinology, 2017
An Activating Janus Kinase-3 Mutation Is Associated with Cytotoxic T Lymphocyte Antigen-4-Dependent Immune Dysregulation Syndrome.
Sic H et al.
Frontiers in Immunology, 2017
Development and validation of a whole-exome sequencing test for simultaneous detection of point mutations, indels and copy-number alterations for precision cancer care.
Rennert H et al.
Npj Genomic Medicine, 2016
An unusual long-term outcome of a child with primary myelofibrosis harboring a JAK2 mutation.
Maia RC et al.
Blood Cells, Molecules & Diseases, 2015
Molecular insights into regulation of JAK2 in myeloproliferative neoplasms.
Silvennoinen O et al.
Blood, 2015
Molecular basis for pseudokinase-dependent autoinhibition of JAK2 tyrosine kinase.
Shan Y et al.
Nature Structural & Molecular Biology, 2014
Hereditary erythrocytosis, thrombocytosis and neutrophilia.
Hong WJ et al.
Best Practice & Research. Clinical Haematology, 2014
Mechanistic insights into activation and SOCS3-mediated inhibition of myeloproliferative neoplasm-associated JAK2 mutants from biochemical and structural analyses.
Varghese LN et al.
The Biochemical Journal, 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
JAK2 mutations to the fore in hereditary thrombocythemia.
Langabeer SE
Jak-stat, 2014
Lymphoid malignancies: Another face to the Janus kinases.
Scott LM
Blood Reviews, 2013
Genetic alterations activating kinase and cytokine receptor signaling in high-risk acute lymphoblastic leukemia.
Roberts KG et al.
Cancer Cell, 2012
Rearrangement of CRLF2 is associated with mutation of JAK kinases, alteration of IKZF1, Hispanic/Latino ethnicity, and a poor outcome in pediatric B-progenitor acute lymphoblastic leukemia.
Harvey RC et al.
Blood, 2010
JAK mutations in high-risk childhood acute lymphoblastic leukemia.
Mullighan CG et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009