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
2016
Connexin channels in congenital skin disorders
Lilly E, Sellitto C, Milstone LM, White TW. Connexin channels in congenital skin disorders. Seminars In Cell And Developmental Biology 2016, 50: 4-12. PMID: 26775130, PMCID: PMC4779425, DOI: 10.1016/j.semcdb.2015.11.018.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsConnexin mutationsDifferent connexin genesSubtle functional differencesConnexin functionConnexin genesDominant gainConnexin channelsHeteromeric hemichannelsSpectrum of phenotypesFunctional roleConnexin 26 mutationsFunctional differencesCongenital skin disorderMutationsGap junctionsHemichannelsCalcium regulationConnexinsConnexin 43Detailed understandingCalcium permeabilitySkin disordersPalmoplantar keratodermaDeafness syndromeGenes