LB731 GJA4 somatic mutations drive venous malformation in the skin and liver and reveal a novel pathway for therapeutic intervention
Ugwu N, Atzmony L, Ellis K, Panse G, Jain D, Ko C, Nassiri N, Choate K. LB731 GJA4 somatic mutations drive venous malformation in the skin and liver and reveal a novel pathway for therapeutic intervention. Journal Of Investigative Dermatology 2021, 141: b8. DOI: 10.1016/j.jid.2021.07.021.Peer-Reviewed Original ResearchCutaneous 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