Associated Papers
CDC42 missense mutations and human diseases: from neurodevelopmental disorders to autoinflammation.
Yasumi T
Journal of Biochemistry, 2025
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1
A Novel CDC42 Variant with Impaired Thymopoiesis, IL-7R Signaling, PAK1 Binding, and TCR Repertoire Diversity.
Assing K et al.
Journal of Clinical Immunology, 2023
Splenectomy as an effective treatment for macrothrombocytopenia in Takenouchi-Kosaki syndrome.
Yamano S et al.
International Journal of Hematology, 2023
A CDC42 Stop-loss Mutation in a Patient with Relapsing Polychondritis and Autoinflammation.
van Wijck RTA et al.
Journal of Clinical Immunology, 2023
36040659 (PubMed )
Supplement: 10875_2022_1344_MOESM1_ESM.xlsx › Sheet1
Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology.
Banka S et al.
Brain : a Journal of Neurology, 2022
Selectivity Determinants of RHO GTPase Binding to IQGAPs.
Mosaddeghzadeh N et al.
International Journal of Molecular Sciences, 2021
RHO GTPases: from new partners to complex immune syndromes.
El Masri R et al.
Nature Reviews. Immunology, 2021
Selected Abstracts from the 12th Annual Meeting of the Clinical Immunology Society: 2021 Virtual Annual Meeting: Immune Deficiency and Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2021
Systemic Inflammation and Myelofibrosis in a Patient with Takenouchi-Kosaki Syndrome due to CDC42 Tyr64Cys Mutation.
Bucciol G et al.
Journal of Clinical Immunology, 2020
A Novel CDC42 Mutation in an 11-Year Old Child Manifesting as Syndromic Immunodeficiency, Autoinflammation, Hemophagocytic Lymphohistiocytosis, and Malignancy: A Case Report.
Szczawinska-Poplonyk A et al.
Frontiers in Immunology, 2020
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function.
Lam MT et al.
The Journal of Experimental Medicine, 2019
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.
Martinelli S et al.
American Journal of Human Genetics, 2018
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