Associated Papers
Heritability and Transcriptional Impact of JAK3, STAT5A and STAT6 Variants in a Tyrolean Family.
Lee HK et al.
International Journal of Molecular Sciences, 2026
BRAF mutations and targeted therapy in unclassified pericytic tumors: insights from genetic analysis and clinical response.
Golan H et al.
Bmc Cancer, 2025
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Identification of Genetic Variants Using Next-Generation Sequencing in Pediatric Myelodysplastic Syndrome: From Disease Biology to Clinical Applications.
Lovatel VL et al.
International Journal of Molecular Sciences, 2025
JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders.
Djidjik R et al.
Frontiers in Immunology, 2025
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
Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 3.
Tsilifis C et al.
Journal of Clinical Immunology, 2024
Combination of Synonymous and Missense Mutations in JAK3 Gene Contributes to Severe Combined Immunodeficiency in One Child.
Wang X et al.
Human Mutation, 2023
Kinome capture sequencing of high-grade serous ovarian carcinoma reveals novel mutations in the JAK3 gene.
Mittempergher L et al.
Plos One, 2020
Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.
Durham BH et al.
Nature Medicine, 2019
Graft versus host disease and microchimerism in a JAK3 deficient patient.
Shahbazi Z et al.
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2019
The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.
Muscat AM et al.
Oncotarget, 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
Tumorigenicity-associated characteristics of human iPS cell lines.
Yasuda S et al.
Plos One, 2018
Chronic active Epstein-Barr virus infection as the initial symptom in a Janus kinase 3 deficiency child: Case report and literature review.
Zhong L et al.
Medicine, 2017
Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.
Yu H et al.
The Journal of Allergy and Clinical Immunology, 2016
RNA sequencing unravels the genetics of refractory/relapsed T-cell acute lymphoblastic leukemia. Prognostic and therapeutic implications.
Gianfelici V et al.
Haematologica, 2016
Evaluating Cancer of the Central Nervous System Through Next-Generation Sequencing of Cerebrospinal Fluid.
Pentsova EI et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2016
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
An N-ethyl-N-nitrosourea (ENU)-induced dominant negative mutation in the JAK3 kinase protects against cerebral malaria.
Bongfen SE et al.
Plos One, 2012
Janus kinase 3 missense mutation in a child with Jacobsen syndrome.
Lotz DR et al.
Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2010
Jak3, severe combined immunodeficiency, and a new class of immunosuppressive drugs.
Pesu M et al.
Immunological Reviews, 2005
Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency.
Notarangelo LD et al.
Human Mutation, 2001