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
Post‐zygotic ACTB mutations underlie congenital smooth muscle hamartomas
Atzmony L, Ugwu N, Zaki TD, Antaya RJ, Choate KA. Post‐zygotic ACTB mutations underlie congenital smooth muscle hamartomas. Journal Of Cutaneous Pathology 2020, 47: 681-685. PMID: 32170967, PMCID: PMC7943230, DOI: 10.1111/cup.13683.Peer-Reviewed Original ResearchConceptsCongenital smooth muscle hamartomaSmooth muscle hamartomaBecker's nevusMuscle hamartomaBecker nevus syndromeDirect sequencingHistopathological featuresHistopathological overlapBenign lesionsMosaic disordersPhenotypic spectrumNeviUnaffected tissueAffected tissuesHamartomaPost-zygotic mutationsHemihypertrophyEnrichment assayTissueMutationsACTB geneClues to primary vismodegib resistance lie in histology and genetics
Sun Q, Atzmony L, Zaki T, Peng A, Sugarman J, Choate KA. Clues to primary vismodegib resistance lie in histology and genetics. Journal Of Clinical Pathology 2020, 73: 678-680. PMID: 32217615, PMCID: PMC7513245, DOI: 10.1136/jclinpath-2020-206448.Peer-Reviewed Original ResearchConceptsBasal cell carcinomaCommon human malignant neoplasmInfundibulocystic basal cell carcinomaBasal cell nevus syndromeHuman malignant neoplasmsWhole-exome sequencingClinical featuresBCC subtypesCell carcinomaMalignant neoplasmsHistological resultsHedgehog pathwayBiopsyVismodegibCarcinomaNeoplasmsSyndromeHistologyLesionsSubtypesMutationsBlood
2019
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
2008
Cytomegalovirus-associated splenic infarcts in a female patient with Factor V Leiden mutation: a case report
Atzmony L, Saar N, Chundadze T, Arbel Y, Justo D, Mashav N. Cytomegalovirus-associated splenic infarcts in a female patient with Factor V Leiden mutation: a case report. Journal Of Medical Case Reports 2008, 2: 385. PMID: 19087249, PMCID: PMC2615038, DOI: 10.1186/1752-1947-2-385.Peer-Reviewed Original ResearchFactor V Leiden mutationV Leiden mutationSplenic infarctionAcute cytomegalovirus infectionConclusionThis case reportTrans-esophageal echocardiographySpontaneous splenic infarctionCytomegalovirus infectionImmunocompromized patientsAnticoagulant treatmentFemale patientsCase reportCaucasian womenMural thrombusPatientsMedical literatureThrombosisInfarctionCytomegalovirusMutationsEchocardiographyThrombusInfectionCases