Associated Papers
Clonal hematopoiesis associates with prevalent and incident cardiometabolic disease in a cardiac catheterization cohort.
Regan JA et al.
Plos One, 2026
Ancestry-dependent patterns of somatic mosaicism and clonal hematopoiesis mutations in over 125,000 individuals reveal distinct cancer associations.
Colin-Leitzinger C et al.
Human Genomics, 2025
In silico modeling guides identification of novel JAK1 variants associated with immune dysregulation.
Jeanpierre M et al.
Embo Molecular Medicine, 2025
Clonal hematopoiesis in apparent treatment-resistant hypertension, insights from multiple medical centers and community-based cohorts.
Lv C et al.
Nature Aging, 2025
Inborn errors of immunity with atopic phenotype: what we know so far.
Taietti I et al.
Expert Review of Clinical Immunology, 2025
Distinct characteristics of lymphoid and myeloid clonal hematopoiesis in World Trade Center first responders.
Esai Selvan M et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Peripheral blood somatic mosaicism and clonal hematopoiesis across ancestry backgrounds.
Colin-Leitzinger C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Clonal Hematopoiesis Associates with Prevalent and Incident Cardiometabolic Disease in High-Risk Individuals.
Regan JA et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders.
Djidjik R et al.
Frontiers in Immunology, 2025
Colchicine prevents accelerated atherosclerosis in TET2-mutant clonal haematopoiesis.
Zuriaga MA et al.
European Heart Journal, 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
Involvement of the JAK-STAT pathway in the molecular landscape of tyrosine kinase fusion-negative hypereosinophilic syndromes: A nationwide CEREO study.
Groh M et al.
American Journal of Hematology, 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
Rare variant associations with plasma protein levels in the UK Biobank.
Dhindsa RS et al.
Nature, 2023
Genetic modification of inflammation- and clonal hematopoiesis-associated cardiovascular risk.
Yu Z et al.
The Journal of Clinical Investigation, 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
Clonal hematopoiesis is associated with protection from Alzheimer's disease.
Bouzid H et al.
Nature Medicine, 2023
Human JAK1 gain of function causes dysregulated myelopoeisis and severe allergic inflammation.
Biggs CM et al.
Jci Insight, 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
Cancer-driving mutations are enriched in genic regions intolerant to germline variation.
Vitsios D et al.
Science Advances, 2022
Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.
Baxter SK et al.
The Journal of Allergy and Clinical Immunology, 2022
Zebrafish models of inflammation in hematopoietic development and disease.
Ketharnathan S et al.
Frontiers in Cell and Developmental Biology, 2022
A novel activating JAK1 mutation in chronic eosinophilic leukemia.
Shomali W et al.
Blood Advances, 2021
Deregulation of the Interleukin-7 Signaling Pathway in Lymphoid Malignancies.
Lodewijckx I et al.
Pharmaceuticals (basel, Switzerland), 2021
Autoinflammatory Keratinization Disease With Hepatitis and Autism Reveals Roles for JAK1 Kinase Hyperactivity in Autoinflammation.
Takeichi T et al.
Frontiers in Immunology, 2021
Inherited causes of clonal haematopoiesis in 97,691 whole genomes.
Bick AG et al.
Nature, 2020
Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function.
Gruber CN et al.
Immunity, 2020
Spatially resolved analyses link genomic and immune diversity and reveal unfavorable neutrophil activation in melanoma.
Mitra A et al.
Nature Communications, 2020
Characterization of JAK1 Pseudokinase Domain in Cytokine Signaling.
Raivola J et al.
Cancers, 2019
JAK/STAT Pathway Mutations in T-ALL, Including the STAT5B N642H Mutation, are Sensitive to JAK1/JAK3 Inhibitors.
Govaerts I et al.
Hemasphere, 2019
Role of Non Receptor Tyrosine Kinases in Hematological Malignances and its Targeting by Natural Products.
Siveen KS et al.
Molecular Cancer, 2018
Molecular Classification of Primary Immunodeficiencies of T Lymphocytes.
Comrie WA et al.
Advances in Immunology, 2018
JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome.
Del Bel KL et al.
The Journal of Allergy and Clinical Immunology, 2017
Identification of a novel functional JAK1 S646P mutation in acute lymphoblastic leukemia.
Li Q et al.
Oncotarget, 2017
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Farwell Hagman KD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Hyperactivation of JAK1 tyrosine kinase induces stepwise, progressive pruritic dermatitis.
Yasuda T et al.
The Journal of Clinical Investigation, 2016
Prognostic and therapeutic role of targetable lesions in B-lineage acute lymphoblastic leukemia without recurrent fusion genes.
Messina M et al.
Oncotarget, 2016
Distinct Acute Lymphoblastic Leukemia (ALL)-associated Janus Kinase 3 (JAK3) Mutants Exhibit Different Cytokine-Receptor Requirements and JAK Inhibitor Specificities.
Losdyck E et al.
The Journal of Biological Chemistry, 2015
Cooperating JAK1 and JAK3 mutants increase resistance to JAK inhibitors.
Springuel L et al.
Blood, 2014