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
The Baraitser-Winter Cerebrofrontofacial Syndrome Recurrent R196H Variant in Cytoplasmic β-Actin Impairs Its Cellular Polymerization and Stability.
Gráczer É et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2026
Multiscale characterization of Caenorhabditis elegans mutants to probe functional mechanisms of human actin pathological variants.
Hecquet T et al.
Iscience, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
A case of Baraitser-Winter cerebrofrontofacial syndrome diagnosed by whole-exome sequencing.
Suga K et al.
Human Genome Variation, 2025
Molecular mechanisms of hotspot variants in cytoskeletal β-actin associated with Baraitser-Winter syndrome.
Greve JN et al.
The Febs Journal, 2025
The genomic and transcriptomic landscape of metastastic urothelial cancer.
Loriot Y et al.
Nature Communications, 2024
Expansion of the prenatal phenotype of Baraitser-Winter syndrome: Presentation of two cases of multiple congenital anomaly syndrome.
Burrill N et al.
American Journal of Medical Genetics. Part A, 2024
Hearing Loss in Baraitser-Winter Syndrome: Case Reports and Review of the Literature.
Ghiselli S et al.
Journal of Clinical Medicine, 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
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.
Valencia AM et al.
Nature Genetics, 2023
An in Vitro Reconstitution System Defines the Defective Step in the Biogenesis of Mutated β-Actin Proteins.
Machida K et al.
Acs Synthetic Biology, 2021
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
Spatially interacting phosphorylation sites and mutations in cancer.
Huang KL et al.
Nature Communications, 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
Further delineation of putative ACTB loss-of-function variants: A 4-patient series.
Baumann M et al.
Human Mutation, 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
Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.
Latham SL et al.
Nature Communications, 2018
Child with cerebral malformations and epilepsy.
Sun Y et al.
The International Journal of Neuroscience, 2018
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Postzygotic Mutations in Beta-Actin Are Associated with Becker's Nevus and Becker's Nevus Syndrome.
Cai ED et al.
The Journal of Investigative Dermatology, 2017
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
Verloes A et al.
European Journal of Human Genetics : Ejhg, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations.
Di Donato N et al.
European Journal of Human Genetics : Ejhg, 2014
Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome.
Eker HK et al.
European Journal of Medical Genetics, 2014
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
Rivière JB et al.
Nature Genetics, 2012
TRAM is involved in IL-18 signaling and functions as a sorting adaptor for MyD88.
Ohnishi H et al.
Plos One, 2012