Associated Papers
The role of Rho GTPases in facial morphogenesis.
Ibrahim I et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 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
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.
Yoon JG et al.
Genome Medicine, 2025
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
Diverse Clinical Presentation of RAC1-Related Intellectual Developmental Disorder.
Upadia J et al.
American Journal of Medical Genetics. Part A, 2025
The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.
Lam WKJ et al.
The Lancet Regional Health. Western Pacific, 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
Molecular dynamics simulation of RAC1 protein and its de novo variants related to developmental disorders.
Rani N et al.
Journal of Biomolecular Structure & Dynamics, 2024
Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.
Priolo M et al.
European Journal of Human Genetics : Ejhg, 2023
A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association.
Seyama R et al.
Scientific Reports, 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
A Comprehensive Study of De Novo Mutations on the Protein-Protein Interaction Interfaces Provides New Insights into Developmental Delay.
Maharjan DT et al.
Biomolecules, 2022
Cellular Models and High-Throughput Screening for Genetic Causality of Intellectual Disability.
Fell CW et al.
Trends in Molecular Medicine, 2021
An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders.
Chen S et al.
Nature Genetics, 2018
Rho GTPases in Intellectual Disability: From Genetics to Therapeutic Opportunities.
Zamboni V et al.
International Journal of Molecular Sciences, 2018
RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1.
Meyer Zum Büschenfelde U et al.
Plos Genetics, 2018
RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.
Reijnders MRF et al.
American Journal of Human Genetics, 2017
Tyrosine phosphorylation of Rac1: a role in regulation of cell spreading.
Chang F et al.
Plos One, 2011