BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms
Barish S, Barakat T, Michel B, Mashtalir N, Phillips J, Valencia A, Ugur B, Wegner J, Scott T, Bostwick B, Network U, Murdock D, Dai H, Perenthaler E, Nikoncuk A, van Slegtenhorst M, Brooks A, Keren B, Nava C, Mignot C, Douglas J, Rodan L, Nowak C, Ellard S, Stals K, Lynch S, Faoucher M, Lesca G, Edery P, Engleman K, Zhou D, Thiffault I, Herriges J, Gass J, Louie R, Stolerman E, Washington C, Vetrini F, Otsubo A, Pratt V, Conboy E, Treat K, Shannon N, Camacho J, Wakeling E, Yuan B, Chen C, Rosenfeld J, Westerfield M, Wangler M, Yamamoto S, Kadoch C, Scott D, Bellen H. BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. American Journal Of Human Genetics 2020, 107: 1096-1112. PMID: 33232675, PMCID: PMC7820627, DOI: 10.1016/j.ajhg.2020.11.003.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAnimalsChildChild, PreschoolChromosomal Proteins, Non-HistoneDevelopmental DisabilitiesDrosophila melanogasterDrosophila ProteinsFemaleGenes, DominantGenetic VariationHaploinsufficiencyHumansInfantMaleMicroscopy, ConfocalMutation, MissenseNeurogliaNeuronsPhenotypeProtein BindingTumor Suppressor ProteinsZebrafishZebrafish ProteinsConceptsSWI/SNF complex membersComplex membersSWI/SNF familyPosition-effect variegationIntellectual disability disordersContext-specific mannerNcBAF complexesDrosophila orthologDominant enhancersBAF complexModel organismsFunctional characterizationDisability disordersCraniofacial defectsNeurodevelopmental phenotypesOrthologsRelated phenotypesPhenotypeFunction variantsRare neurodevelopmental disorderGenesRare variantsFliesPathogenic variantsNeurodevelopmental disorders