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 geneDantrolene corrects cellular disease features of Darier disease and may be a novel treatment
Hunt M, Wang N, Pupinyo N, Curman P, Torres M, Jebril W, Chatzinikolaou M, Lorent J, Silberberg G, Bansal R, Burner T, Zhou J, Kimeswenger S, Hoetzenecker W, Choate K, Bachar-Wikstrom E, Wikstrom J. Dantrolene corrects cellular disease features of Darier disease and may be a novel treatment. EMBO Molecular Medicine 2024, 16: 1986-2001. PMID: 39060641, PMCID: PMC11392931, DOI: 10.1038/s44321-024-00104-3.Peer-Reviewed Original ResearchDarier's diseaseER stressCell adhesionER calcium levelsUpregulation of ER stressInhibited calcium releaseRyanodine receptor antagonistEndoplasmic reticulum calcium homeostasisTarget pathogenic mechanismsFeatures of Darier's diseaseIdentified dysregulated genesMechanisms of DDNon-dermatological indicationsCellular calcium dynamicsCellular functionsER calciumHomeostasis pathwaysATP2A2 geneIn vitro modelReceptor antagonistPumps calciumCalcium releasePromote cell adhesionIsoform 2Suppressed apoptosisPersistent 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
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