Associated Papers
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.
Yoon JG et al.
Genome Medicine, 2025
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
Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores.
Miyoshi T et al.
Human Genetics, 2022
The Dark Side of Actin: Cardiac actin variants highlight the role of allostery in disease development.
Teng GZ et al.
Archives of Biochemistry and Biophysics, 2020
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
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
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
Child with cerebral malformations and epilepsy.
Sun Y et al.
The International Journal of Neuroscience, 2018
Exome Pool-Seq in neurodevelopmental disorders.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2017
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
36th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2015 annual meeting.
Gripp KW 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
Insights into the effects of disease-causing mutations in human actins.
Rubenstein PA et al.
Cytoskeleton (hoboken, N.j.), 2014
Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome.
Johnston JJ et al.
Human Mutation, 2013