2020
Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis
Boyden LM, Zhou J, Hu R, Zaki T, Loring E, Scott J, Traupe H, Paller AS, Lifton RP, Choate KA. Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis. American Journal Of Human Genetics 2020, 107: 158-163. PMID: 32516568, PMCID: PMC7332602, DOI: 10.1016/j.ajhg.2020.05.013.Peer-Reviewed Original ResearchConceptsDominant Mendelian disorderAutocatalytic cleavage siteMendelian disordersProtein residuesASPRV1Cleavage siteEpidermal differentiationMissense mutationsFilaggrin processingMutationsExome sequencingGenetic causeEpidermal barrier integrityEpidermal layerPalmoplantar keratodermaLamellar ichthyosisClose proximity
2018
Recent advances in understanding inherited disorders of keratinization
Zaki T, Choate K. Recent advances in understanding inherited disorders of keratinization. F1000Research 2018, 7: f1000 faculty rev-919. PMID: 30002814, PMCID: PMC6024232, DOI: 10.12688/f1000research.14514.1.Peer-Reviewed Original ResearchCorneocyte lipid envelopeNovel genesNext-generation sequencingEpidermal lipid barrierHuman geneticsCeramide pathwayIntercellular lipid layersLipid envelopeLipid synthesisBarrier functionSeries of discoveriesCompensatory hyperproliferationMutationsNovel mutationsLipid componentsLipid barrierWater lossRecent advancesPalmoplantar keratodermaAbnormal barrier functionGenesGeneticsNew findingsSequencingCeramide