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
In silico modeling guides identification of novel JAK1 variants associated with immune dysregulation.
Jeanpierre M et al.
Embo Molecular Medicine, 2025
Cytokine-Driven Janus Kinase Signal Transducer and Activator of Transcription (JAK/STAT) Pathway Hyperactivity Predicts Disease Severity in Pediatric Focal Segmental Glomerulosclerosis.
Shen CL et al.
Kidney360, 2025
Clinical features, mutational landscape and their prognostic impact in Chinese paediatric patients with T-cell lymphoblastic lymphoma.
Li Y et al.
British Journal of Haematology, 2025
Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.
Newman H et al.
Hemasphere, 2025
The JAK/STAT conundrum with mutational heterogeneity, immune defects, and the emergence of targeted therapies.
Demirkaya DB et al.
Expert Review of Clinical Immunology, 2025
The 2024 update of IUIS phenotypic classification of human inborn errors of immunity.
Bousfiha AA et al.
Journal of Human Immunity, 2025
Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee.
Poli MC et al.
Journal of Human Immunity, 2025
High-Frequency Mutations in TP53, AXIN1, CTNNB1, and KRAS, and Polymorphisms in JAK1 Genes Among Mongolian HCC Patients.
Bold N et al.
Cancer Reports (hoboken, N.j.), 2025
How to combine multiple tools for the genetic diagnosis work-up of pediatric B-cell acute lymphoblastic leukemia.
Hidalgo-Gómez G et al.
Annals of Hematology, 2025
Monoallelic expression can govern penetrance of inborn errors of immunity.
Stewart O et al.
Nature, 2025
Cytokine signaling defects in primary atopic diseases-an updated review.
Thakur V et al.
Frontiers in Allergy, 2025
JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders.
Djidjik R et al.
Frontiers in Immunology, 2025
Wild-type Blocking PCR Combined with Sanger Sequencing for Detection of Low-frequency Somatic Mutation.
Xu H et al.
Journal of Visualized Experiments : Jove, 2024
Study of sex-biased differences in genomic profiles in East Asian hepatocellular carcinoma.
Huang CY et al.
Discover Oncology, 2024
Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis.
Horesh ME et al.
The Journal of Experimental Medicine, 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
Comprehensive genomic characterization of hematologic malignancies at a pediatric tertiary care center.
Kebede AM et al.
Frontiers in Oncology, 2024
Autoinflammatory Keratinization Diseases-The Concept, Pathophysiology, and Clinical Implications.
Blicharz L et al.
Clinical Reviews in Allergy & Immunology, 2023
Successful treatment of JAK1-associated inflammatory disease.
Fayand A et al.
The Journal of Allergy and Clinical Immunology, 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
Interaction between myelodysplasia-related gene mutations and ontogeny in acute myeloid leukemia.
McCarter JGW et al.
Blood Advances, 2023
JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences.
Ott N et al.
Journal of Clinical Immunology, 2023
Human JAK1 gain of function causes dysregulated myelopoeisis and severe allergic inflammation.
Biggs CM et al.
Jci Insight, 2022
RaScALL: Rapid (Ra) screening (Sc) of RNA-seq data for prognostically significant genomic alterations in acute lymphoblastic leukaemia (ALL).
Rehn J et al.
Plos Genetics, 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
JAK3 mutations and mitochondrial apoptosis resistance in T-cell acute lymphoblastic leukemia.
Bodaar K et al.
Leukemia, 2022
Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.
Liu T et al.
Nature Communications, 2022
Oncogene Concatenated Enriched Amplicon Nanopore Sequencing for rapid, accurate, and affordable somatic mutation detection.
Thirunavukarasu D et al.
Genome Biology, 2021
Activating JAK-mutations confer resistance to FLT3 kinase inhibitors in FLT3-ITD positive AML in vitro and in vivo.
Rummelt C et al.
Leukemia, 2021
Somatic Mutation Profiles Revealed by Next Generation Sequencing (NGS) in 39 Chinese Hepatocellular Carcinoma Patients.
Ke L et al.
Frontiers in Molecular Biosciences, 2021
Monomorphic Epitheliotropic Intestinal T-Cell Lymphoma in Asia Frequently Shows SETD2 Alterations.
Tomita S et al.
Cancers, 2020
Olaparib combined with immunotherapy for treating a patient with liver cancer carrying BRCA2 germline mutation: A case report.
Zhao F et al.
Medicine, 2020
Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function.
Gruber CN et al.
Immunity, 2020
Genomic and Epigenomic Features of Primary and Recurrent Hepatocellular Carcinomas.
Ding X et al.
Gastroenterology, 2020
Genetic mutational analysis of pediatric acute lymphoblastic leukemia from a single center in China using exon sequencing.
Zhang H et al.
Bmc Cancer, 2020
Genomic and Epigenomic Features of Primary and Recurrent Hepatocellular Carcinomas.
Ding X et al.
Gastroenterology, 2019
JAK/STAT-Activating Genomic Alterations Are a Hallmark of T-PLL.
Wahnschaffe L et al.
Cancers, 2019
Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia.
Pouliot GP et al.
Plos One, 2019
Pharmacogenetics of hepatocellular carcinoma and cholangiocarcinoma.
Alonso-Peña M et al.
Cancer Drug Resistance (alhambra, Calif.), 2019
Hedgehog pathway mutations drive oncogenic transformation in high-risk T-cell acute lymphoblastic leukemia.
Burns MA et al.
Leukemia, 2018
Persistence of pre-leukemic clones during first remission and risk of relapse in acute myeloid leukemia.
Rothenberg-Thurley M et al.
Leukemia, 2018