Associated Papers
ARF1-Related Diseases in China: The Initial Study of Phenotype and Molecular Profile.
Lian R et al.
Journal of Cellular and Molecular Medicine, 2025
Variations associated with neurodevelopmental disorders affect ARF1 function and cortical development.
Ishiguro T et al.
Journal of Biochemistry, 2024
Axon development is regulated at genetic and proteomic interfaces between the integrin adhesome and the RPM-1 ubiquitin ligase signaling hub.
Amezquita J et al.
Biorxiv : the Preprint Server for Biology, 2023
38014183 (PubMed )
Supplement: media-8.xlsx › Human_Genetic_Variants
ARF1-related disorder: phenotypic and molecular spectrum.
de Sainte Agathe JM et al.
Journal of Medical Genetics, 2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM23_ESM.xlsx › Sheet1
A neurodevelopmental disorder associated with an activating de novo missense variant in ARF1.
Ishida M et al.
Human Molecular Genetics, 2023
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.
Fasano G et al.
Nature Communications, 2022
36369169 (PubMed )
Supplement: 41467_2022_34354_MOESM1_ESM.pdf
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity.
Gana S et al.
Journal of Medical Genetics, 2022
Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation.
Ge X et al.
Npj Genomic Medicine, 2016
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