Associated Papers
A lipidation inhibitor rescues impaired neurite outgrowth caused by the CDC42 mutation associated with Takenouchi-Kosaki syndrome in Neuro2A cells.
Daimon E et al.
Brain & Development, 2026
Interpreting the functional impact of genetic variants: The need for context qualifiers.
Martinelli S et al.
American Journal of Human Genetics, 2026
Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.
Gagoski D et al.
Protein Science : a Publication of the Protein Society, 2025
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
Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.
Gagoski D et al.
Biorxiv : the Preprint Server for Biology, 2025
Autoinflammatory patients with Golgi-trapped CDC42 exhibit intracellular trafficking defects leading to STING hyperactivation and ER stress.
Iannuzzo A et al.
Nature Communications, 2024
Modelling Takenouchi-Kosaki syndrome using disease-specific iPSCs.
Thanasegaran S et al.
Stem Cell Research, 2023
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
The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in CDC42: a case report.
Szczawińska-Popłonyk A et al.
Frontiers in Genetics, 2023
Editorial: Next generation sequencing (NGS) for rare diseases diagnosis - Volume II.
Yang XA et al.
Frontiers in Genetics, 2023
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
Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee.
Tangye SG et al.
Journal of Clinical Immunology, 2022
Trapping of CDC42 C-terminal variants in the Golgi drives pyrin inflammasome hyperactivation.
Nishitani-Isa M et al.
The Journal of Experimental Medicine, 2022
[Genetic of congenital hypothyroidism].
Stoupa A et al.
Medecine Sciences : M/s, 2022
Impaired Function of PLEKHG2, a Rho-Guanine Nucleotide-Exchange Factor, Disrupts Corticogenesis in Neurodevelopmental Phenotypes.
Nishikawa M et al.
Cells, 2022
Immune-mediated inflammatory diseases with chronic excess of serum interleukin-18.
Miyazawa H et al.
Frontiers in Immunology, 2022
Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature.
Santoro C et al.
European Journal of Medical Genetics, 2021
Infection and autoinflammation in inborn errors of immunity: brothers in arms.
Delafontaine S et al.
Current Opinion in Immunology, 2021
Macrothrombocytopenia of Takenouchi-Kosaki syndrome is ameliorated by CDC42 specific- and lipidation inhibitors in MEG-01 cells.
Daimon E et al.
Scientific Reports, 2021
RHO GTPases: from new partners to complex immune syndromes.
El Masri R et al.
Nature Reviews. Immunology, 2021
GTPases, genome, actin: A hidden story in DNA damage response and repair mechanisms.
Magalhaes YT et al.
Dna Repair, 2021
Aplasia cutis congenita in a CDC42-related developmental phenotype.
Schnabel F et al.
American Journal of Medical Genetics. Part A, 2021
Pancytopenia, Recurrent Infection, Poor Wound Healing, Heterotopia of the Brain Probably Associated with A Candidate Novel de Novo CDC42 Gene Defect: Expanding the Molecular and Phenotypic Spectrum.
Asiri A et al.
Genes, 2021
Progressive decline of T and B cell numbers and function in a patient with CDC42 deficiency.
Kashani P et al.
Immunologic Research, 2021
Syndromic immunodeficiencies: a pediatrician's perspective on selected diseases.
Szczawinska-Poplonyk A et al.
Allergologia Et Immunopathologia, 2021
[An abnormal palmitoylation arising from a mutation of CDC42 results in a severe autoinflammatory syndrome].
El Masri R et al.
Medecine Sciences : M/s, 2020
Neuropathophysiological significance of the c.1449T>C/p.(Tyr64Cys) mutation in the CDC42 gene responsible for Takenouchi-Kosaki syndrome.
Hamada N et al.
Biochemical and Biophysical Research Communications, 2020
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
Infantile Myelofibrosis and Myeloproliferation with CDC42 Dysfunction.
Verboon JM et al.
Journal of Clinical Immunology, 2020
The Growing Spectrum of Human Diseases Caused by Inherited CDC42 Mutations.
Su HC 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