2022
Update of the keratin gene family: evolution, tissue-specific expression patterns, and relevance to clinical disorders
Ho M, Thompson B, Fisk JN, Nebert DW, Bruford EA, Vasiliou V, Bunick CG. Update of the keratin gene family: evolution, tissue-specific expression patterns, and relevance to clinical disorders. Human Genomics 2022, 16: 1. PMID: 34991727, PMCID: PMC8733776, DOI: 10.1186/s40246-021-00374-9.Peer-Reviewed Original ResearchConceptsTissue-specific expression patternsKeratin genesExpression patternsHuman disease-causing variantsType II keratin genesGenotype-Tissue Expression (GTEx) projectIntermediate filament genesKeratin gene familyEarly metazoan evolutionGene expression patternsAmphibian genomesZebrafish genomeAnimal genomesParalogous proteinsMetazoan evolutionGene expansionChromosome 17q21.2Gene familyFilament genesSpecies survivalDivergent functionsExpression projectChromosomal segmentsChr 11Chr 15
2021
Genotype‒Structurotype‒Phenotype Correlations in Patients with Pachyonychia Congenita
Wu TT, Eldirany SA, Bunick CG, Teng JMC. Genotype‒Structurotype‒Phenotype Correlations in Patients with Pachyonychia Congenita. Journal Of Investigative Dermatology 2021, 141: 2876-2884.e4. PMID: 34116063, PMCID: PMC8922998, DOI: 10.1016/j.jid.2021.03.035.Peer-Reviewed Original ResearchConceptsPachyonychia congenitaInternational PC Research RegistryPainful palmoplantar keratodermaPhenotype correlationNatal teethNail involvementClinical manifestationsKeratin subtypesFollicular hyperkeratosisResearch RegistryOral leukokeratosisPC pathogenesisNail dystrophyPathologic alterationsCutaneous cystsDisease pathogenesisHotspot missense mutationsPatientsClinical phenotypeGreater impairmentGenetic testingHigh-frequency mutationsTherapeutic developmentPalmoplantar keratodermaGenetic disorders
2020
Structural properties of target binding by profilaggrin A and B domains and other S100 fused-type calcium-binding proteins
Hinbest AJ, Kim SR, Eldirany SA, Lomakin IB, Watson J, Ho M, Bunick CG. Structural properties of target binding by profilaggrin A and B domains and other S100 fused-type calcium-binding proteins. Journal Of Dermatological Science 2020, 100: 39-49. PMID: 32893105, PMCID: PMC7752840, DOI: 10.1016/j.jdermsci.2020.08.009.Peer-Reviewed Original ResearchAmino Acid SequenceAnnexin A2Binding SitesCrystallography, X-RayFilaggrin ProteinsHumansHydrophobic and Hydrophilic InteractionsIntermediate Filament ProteinsIntermediate FilamentsKeratinocytesKeratinsMolecular Docking SimulationMutationProtein BindingProtein Conformation, alpha-HelicalProtein DomainsProtein PrecursorsRecombinant ProteinsS100 ProteinsThe Interface between Keratin Structurotype and Human Disease
Eldirany SA, Ho M, Bunick CG. The Interface between Keratin Structurotype and Human Disease. Structure 2020, 28: 271-273. PMID: 32130887, PMCID: PMC7252399, DOI: 10.1016/j.str.2020.02.002.Peer-Reviewed Original Research