Second-Hit Somatic Mutations in Mevalonate Pathway Genes Underlie Porokeratosis
Atzmony L, Choate KA. Second-Hit Somatic Mutations in Mevalonate Pathway Genes Underlie Porokeratosis. Journal Of Investigative Dermatology 2019, 139: 2409-2411. PMID: 31753123, PMCID: PMC7962864, DOI: 10.1016/j.jid.2019.07.723.Peer-Reviewed Original ResearchRecessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia
Boyden LM, Atzmony L, Hamilton C, Zhou J, Lim YH, Hu R, Pappas J, Rabin R, Ekstien J, Hirsch Y, Prendiville J, Lifton RP, Ferguson S, Choate KA. Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia. American Journal Of Human Genetics 2019, 105: 1023-1029. PMID: 31630788, PMCID: PMC6849088, DOI: 10.1016/j.ajhg.2019.09.021.Peer-Reviewed Original ResearchConceptsAdaptor protein-1 (AP-1) complexΒ-subunitProtein-1 complexAP-1 complexIntercellular junction proteinsVesicular phenotypeAbnormal vesiclesΓ subunitBi-allelic mutationsRecessive mutationsAffected cellEpidermal differentiationAbnormal epidermal differentiationSubunitsUnrelated individualsAP1B1Junction proteinsMutationsCellsTransductionComplexesGenesProteinAbundanceVesicles