Associated Papers
Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies.
Di Donato N et al.
American Journal of Human Genetics, 2026
Mapping protein variants associated with Alzheimer's disease by mass-spectrometry based de novo sequencing assisted strategy.
Emekeeva DD et al.
Journal of Alzheimer's Disease : Jad, 2026
Dystonia-deafness syndrome 1 caused by ACTB p.(Arg183Trp) de novo variant: one novel case extending the phenotypic spectrum.
Cuinat S et al.
Neurogenetics, 2026
Multiscale characterization of Caenorhabditis elegans mutants to probe functional mechanisms of human actin pathological variants.
Hecquet T et al.
Iscience, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.
Thomsen M et al.
Annals of Clinical and Translational Neurology, 2025
Cochlear Implantation Outcomes in Genotyped Subjects with Sensorineural Hearing Loss.
Fehrmann MLA et al.
Journal of the Association for Research in Otolaryngology : Jaro, 2025
Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actin.
Woodward BL et al.
Nature Communications, 2025
ECHS 1 mutation: Expanding the genotype of adulthood onset cervico-brachial dystonia with sensorineural hearing loss.
Gomathy SB et al.
Parkinsonism & Related Disorders, 2025
ACTB-associated dystonia-deafness syndrome with good response to DBS GPi revisited.
Kasprzak J et al.
Clinical Parkinsonism & Related Disorders, 2025
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.
Thomsen M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Pervasive mislocalization of pathogenic coding variants underlying human disorders.
Lacoste J et al.
Cell, 2024
Lost in translation: Illuminating protein mislocalization through high-content screening microscopy.
Dornan LG et al.
Cell Genomics, 2024
Compromised actin dynamics underlie the orofacial cleft in Baraitser-Winter Cerebrofrontofacial syndrome with a variant in ACTB.
Tsujimoto T et al.
Human Molecular Genetics, 2024
Hearing Loss in Baraitser-Winter Syndrome: Case Reports and Review of the Literature.
Ghiselli S et al.
Journal of Clinical Medicine, 2024
Genetics and Pathogenesis of Dystonia.
Thomsen M et al.
Annual Review of Pathology, 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
Molecular mechanisms of inorganic-phosphate release from the core and barbed end of actin filaments.
Oosterheert W et al.
Nature Structural & Molecular Biology, 2023
Pervasive mislocalization of pathogenic coding variants underlying human disorders.
Lacoste J et al.
Biorxiv : the Preprint Server for Biology, 2023
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.
Valencia AM et al.
Nature Genetics, 2023
Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice.
Ballesta-Martínez MJ et al.
Orphanet Journal of Rare Diseases, 2023
Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.
Alvarez-Mora MI et al.
Genes, 2023
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J et al.
Human Genomics, 2023
ACTB gene mutation in combined Dystonia-Deafness syndrome with parkinsonism: Expanding the phenotype and highlighting the long-term GPi DBS outcome.
Straccia G et al.
Parkinsonism & Related Disorders, 2022
Dystonia-Deafness Syndrome Response to Subthalamic Nucleus Stimulation.
Zhang Y et al.
Movement Disorders Clinical Practice, 2022
Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores.
Miyoshi T et al.
Human Genetics, 2022
Dystonia-Deafness Syndrome: ACTB Pathogenic Variant in an Argentinean Family.
Zavala L et al.
Movement Disorders Clinical Practice, 2022
Identification of a De Novo Heterozygous Missense ACTB Variant in Baraitser-Winter Cerebrofrontofacial Syndrome.
Nie K et al.
Frontiers in Genetics, 2022
Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases.
Park S et al.
Frontiers in Genetics, 2022
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
Comprehensive functional network analysis and screening of deleterious pathogenic variants in non-syndromic hearing loss causative genes.
Ray M et al.
Bioscience Reports, 2021
Parkinsonism and Positive Dopamine Transporter Imaging in a Patient with a Novel KMT2B Variant.
Feuerstein JS et al.
Movement Disorders Clinical Practice, 2021
Exome sequencing in paediatric patients with movement disorders.
Kwong AK et al.
Orphanet Journal of Rare Diseases, 2021
Molecular Mechanisms of Leukocyte Migration and Its Potential Targeting-Lessons Learned From MKL1/SRF-Related Primary Immunodeficiency Diseases.
Sprenkeler EGG et al.
Frontiers in Immunology, 2021
The First Korean Case of Baraitser-Winter Cerebro-Fronto-Facial Syndrome with a Novel Mutation in ACTB Diagnosed Via Targeted Gene Panel Sequencing and Literature Review.
Choi GJ et al.
Annals of Clinical and Laboratory Science, 2020
Baraitser-Winter cerebrofrontofacial syndrome: Report of two adult siblings.
Hampshire K et al.
American Journal of Medical Genetics. Part A, 2020
Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs.
Chung CCY et al.
The Lancet Regional Health. Western Pacific, 2020
Prevalence of Cytoplasmic Actin Mutations in Diffuse Large B-Cell Lymphoma and Multiple Myeloma: A Functional Assessment Based on Actin Three-Dimensional Structures.
Witjes L et al.
International Journal of Molecular Sciences, 2020
Further delineation of putative ACTB loss-of-function variants: A 4-patient series.
Baumann M et al.
Human Mutation, 2020
Expanding the Phenotype of Dystonia-Deafness Syndrome Caused by ACTB Gene Mutation.
Freitas JL et al.
Movement Disorders Clinical Practice, 2020
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Long-term effect of subthalamic and pallidal deep brain stimulation for status dystonicus in children with methylmalonic acidemia and GNAO1 mutation.
Benato A et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2019
Atomic view into Plasmodium actin polymerization, ATP hydrolysis, and fragmentation.
Kumpula EP et al.
Plos Biology, 2019
K336I mutant actin alters the structure of neighbouring protomers in filaments and reduces affinity for actin-binding proteins.
Umeki N et al.
Scientific Reports, 2019
Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change? Two Novel Mutations and Literature Review.
Sandestig A et al.
Molecular Syndromology, 2019
Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.
Latham SL et al.
Nature Communications, 2018