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
Recent insight into intermediate filament structure
Eldirany SA, Lomakin IB, Ho M, Bunick CG. Recent insight into intermediate filament structure. Current Opinion In Cell Biology 2020, 68: 132-143. PMID: 33190098, PMCID: PMC7925366, DOI: 10.1016/j.ceb.2020.10.001.Peer-Reviewed Original ResearchConceptsIntermediate filamentsAssembly mechanismVariable N-terminalMultiple cellular processesCentral rod domainIntermediate filament structureCoil 1BCellular processesStudy of keratinsTail domainFilament assemblyRod domainC-terminalN-terminalElectrostatic surfacePathologic mutationsKey playersFilament structureRecent insightsComplex formationProteinHuman tissuesGlial fibrillary acidic proteinAcidic proteinDomainStructural 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 ProteinsCrystal Structure of Keratin 1/10(C401A) 2B Heterodimer Demonstrates a Proclivity for the C-Terminus of Helix 2B to Form Higher Order Molecular Contacts.
Lomakin IB, Hinbest AJ, Ho M, Eldirany SA, Bunick CG. Crystal Structure of Keratin 1/10(C401A) 2B Heterodimer Demonstrates a Proclivity for the C-Terminus of Helix 2B to Form Higher Order Molecular Contacts. The Yale Journal Of Biology And Medicine 2020, 93: 3-17. PMID: 32226330, PMCID: PMC7087056.Peer-Reviewed Original Research
2019
Alterations in connexin 26 protein structure from lethal keratitis-ichthyosis-deafness syndrome mutations A88V and G45E
Lilly E, Strickler M, Milstone LM, Bunick CG. Alterations in connexin 26 protein structure from lethal keratitis-ichthyosis-deafness syndrome mutations A88V and G45E. Journal Of Dermatological Science 2019, 95: 119-122. PMID: 31331740, PMCID: PMC7263394, DOI: 10.1016/j.jdermsci.2019.07.002.Peer-Reviewed Original Research
2018
More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations
Lilly E, Bunick CG, Maley AM, Zhang S, Spraker MK, Theos AJ, Vivar KL, Seminario-Vidal L, Bennett AE, Sidbury R, Ogawa Y, Akiyama M, Binder B, Hadj-Rabia S, Morotti RA, Glusac EJ, Choate KA, Richard G, Milstone LM. More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations. Journal Of The American Academy Of Dermatology 2018, 80: 617-625. PMID: 30287322, PMCID: PMC6372339, DOI: 10.1016/j.jaad.2018.09.042.Peer-Reviewed Original Research