2024
412 Persistent cutaneous lesions of darier disease are associated with second-hit somatic variants in ATP2A2 gene
Atzmony L, Zagairy F, Tatour Y, Danial-Farran N, Dodiuk-Gad R, Barak E. 412 Persistent cutaneous lesions of darier disease are associated with second-hit somatic variants in ATP2A2 gene. Journal Of Investigative Dermatology 2024, 144: s71. DOI: 10.1016/j.jid.2024.06.428.Peer-Reviewed Original ResearchSomatic variantsATP2A2 genePersistent Cutaneous Lesions of Darier Disease and Second-Hit Somatic Variants in ATP2A2 Gene
Atzmony L, Zagairy F, Mawassi B, Shehade M, Tatour Y, Danial-Farran N, Khayat M, Warrour N, Dodiuk-Gad R, Cohen-Barak E. Persistent Cutaneous Lesions of Darier Disease and Second-Hit Somatic Variants in ATP2A2 Gene. JAMA Dermatology 2024, 160: 518-524. PMID: 38536168, PMCID: PMC10974685, DOI: 10.1001/jamadermatol.2024.0152.Peer-Reviewed Original ResearchConceptsSomatic variantsATP2A2 geneDeep sequencingResponse to environmental factorsCopy number variantsRestriction fragment length polymorphismLoss of heterozygosityWhole-exome sequencingChromosomal microarray analysisDarier's diseaseFragment length polymorphismPaired whole exome sequencingPathogenic germline variantsHeterozygous pathogenic germline variantsDD lesionsGenomic characteristicsGenetic analysisGenetic skin disordersGermline variantsSanger sequencingLength polymorphismSkin lesionsTransient lesionsHeterozygous variantsMicroarray analysis
2023
65 Persistent cutaneous lesions of darier disease are associated with second-hit somatic variants in ATP2A2 gene
Atzmony L, Zagairy F, Ziv M, Farran N, Dudiok-Gad R, Barak E. 65 Persistent cutaneous lesions of darier disease are associated with second-hit somatic variants in ATP2A2 gene. Journal Of Investigative Dermatology 2023, 143: s343. DOI: 10.1016/j.jid.2023.09.073.Peer-Reviewed Original Research