Associated Papers
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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome.
Dawidziuk M et al.
International Journal of Molecular Sciences, 2022
DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature.
Sorrentino U et al.
Audiology Research, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Baraitser-Winter cerebrofrontofacial syndrome: Report of two adult siblings.
Hampshire K et al.
American Journal of Medical Genetics. Part A, 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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Child with cerebral malformations and epilepsy.
Sun Y et al.
The International Journal of Neuroscience, 2018
A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report.
Lee CG et al.
Molecular Medicine Reports, 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
A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.
Rainger J et al.
Human Mutation, 2017
The Clinical Manifestations and Genetic Implications of Baraitser-Winter Syndrome Type 2.
Allawh TC et al.
Journal of Pediatric Genetics, 2017
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
Di Donato N et al.
American Journal of Medical Genetics. Part A, 2016
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
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
Rivière JB et al.
Nature Genetics, 2012
A novel mutation in ACTG1 causing Baraitser-Winter syndrome with extremely variable expressivity in three generations.
Kemerley A et al.
Ophthalmic Genetics, 0