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
2020
Type 3 Inositol 1,4,5‐Trisphosphate Receptor Is Increased and Enhances Malignant Properties in Cholangiocarcinoma
Ueasilamongkol P, Khamphaya T, Guerra MT, Rodrigues M, Gomes DA, Kong Y, Wei W, Jain D, Trampert DC, Ananthanarayanan M, Banales JM, Roberts LR, Farshidfar F, Nathanson MH, Weerachayaphorn J. Type 3 Inositol 1,4,5‐Trisphosphate Receptor Is Increased and Enhances Malignant Properties in Cholangiocarcinoma. Hepatology 2020, 71: 583-599. PMID: 31251815, PMCID: PMC6934938, DOI: 10.1002/hep.30839.Peer-Reviewed Original ResearchConceptsType 3 inositolCCA cellsIntracellular calcium ionsPathogenesis of malignanciesCCA cell linesCommon malignancyPoor prognosisTrisphosphate receptorMalignant featuresMitochondrial CaITPR3 expressionCholangiocarcinomaRegions of ERMalignant propertiesCCA samplesCell proliferationCholangiocytesEndoplasmic reticulumType of tissueMalignancyCell linesITPR3PathogenesisCell deathCell migration