Associated Papers
Molecular analysis and immunological characterization of a founder mutation causing ARPC1B deficiency.
Dobrose MM et al.
Genes and Immunity, 2025
Recurrent eosinophilia with a novel homozygous ARPC1B mutation.
Sonmez G et al.
Frontiers of Medicine, 2025
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.3
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM
Is Your Kid Actin Out? A Series of Six Patients With Inherited Actin-Related Protein 2/3 Complex Subunit 1B Deficiency and Review of the Literature.
Vásquez-Echeverri E et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2023
The pyrin inflammasome, a leading actor in pediatric autoinflammatory diseases.
La Bella S et al.
Frontiers in Immunology, 2023
Cryo-EM of human Arp2/3 complexes provides structural insights into actin nucleation modulation by ARPC5 isoforms.
von Loeffelholz O et al.
Biology Open, 2020
Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center.
Crowley E et al.
Gastroenterology, 2020
Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease.
Kahr WH et al.
Nature Communications, 2017
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