Associated Papers
Neurodevelopmental disorder-linked Argonaute mutations permit delayed RISC formation and unusual shortening of miRNAs by 3'→5' trimming.
Savidge A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders.
Hennick K et al.
Biorxiv : the Preprint Server for Biology, 2025
Ribonucleases in Mendelian disease: Characterization and insight from model organisms.
Dutta A et al.
Genes & Diseases, 2025
Modeling neurodevelopmental disorder-associated human AGO1 mutations in Caenorhabditis elegans Argonaute alg-1.
Duan Y et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
A novel heterozygous truncating variant in the AGO1 gene in an Iranian family with schizophrenia as an unreported symptom.
Mir A et al.
Annals of Human Genetics, 2023
Modeling neurodevelopmental disorder-associated hAGO1 mutations in C. elegans Argonaute ALG-1.
Duan Y et al.
Biorxiv : the Preprint Server for Biology, 2023
Complex congenital cardiovascular anomaly in a patient with AGO1-associated disorder.
Takagi M et al.
American Journal of Medical Genetics. Part A, 2023
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
Schalk A et al.
Journal of Medical Genetics, 2022
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.
Jia X et al.
Science Advances, 2022
De novo variants in AGO1 recapitulate a heterogeneous neurodevelopmental disorder phenotype.
Niu Y et al.
Clinical Genetics, 2022
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
De novo mutations in folate-related genes associated with common developmental disorders.
Luo T et al.
Computational and Structural Biotechnology Journal, 2021
From the Argonauts Mythological Sailors to the Argonautes RNA-Silencing Navigators: Their Emerging Roles in Human-Cell Pathologies.
Pantazopoulou VI et al.
International Journal of Molecular Sciences, 2020
Further evidence of a causal association between AGO1, a critical regulator of microRNA formation, and intellectual disability/autism spectrum disorder.
Sakaguchi A et al.
European Journal of Medical Genetics, 2019
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014