2021
Cutaneous and hepatic vascular lesions due to a recurrent somatic GJA4 mutation reveal a pathway for vascular malformation
Ugwu N, Atzmony L, Ellis KT, Panse G, Jain D, Ko CJ, Nassiri N, Choate KA. Cutaneous and hepatic vascular lesions due to a recurrent somatic GJA4 mutation reveal a pathway for vascular malformation. Human Genetics And Genomics Advances 2021, 2: 100028. PMID: 33912852, PMCID: PMC8078848, DOI: 10.1016/j.xhgg.2021.100028.Peer-Reviewed Original ResearchSerum/glucocorticoid-regulated kinase 1Serine/threonine kinaseWhole-exome sequencingFirst transmembrane domainCell morphologyPrimary human endothelial cellsSomatic mutationsNon-canonical activationGlucocorticoid-regulated kinase 1Threonine kinaseTransmembrane domainEndothelial cellsSGK1 activationKinase 1Human endothelial cellsGenetic driversAlpha 4Lentiviral transductionInhibitors of angiogenesisSmooth muscle cellsMutationsCell proliferationSequencingUnrelated individualsSame mutation
2019
Recessive 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