2024
Dantrolene 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
Association of Somatic ATP2A2 Damaging Variants With Grover Disease
Seli D, Ellis K, Goldust M, Shah K, Hu R, Zhou J, McNiff J, Choate K. Association of Somatic ATP2A2 Damaging Variants With Grover Disease. JAMA Dermatology 2023, 159: 745-749. PMID: 37195706, PMCID: PMC10193258, DOI: 10.1001/jamadermatol.2023.1139.Peer-Reviewed Original ResearchConceptsGrover's diseaseGD tissuesSomatic single nucleotide variantsControl tissuesRetrospective case seriesCase series studyAnnotation-dependent depletion scoreConsecutive patientsCase seriesKidney failureHistopathologic findingsAcantholytic disordersOrgan transplantationMAIN OUTCOMEBiopsy tissueSeries studyDarier's diseaseClinical diagnosisParticipant's DNAOlder individualsTissue DNADiseaseDisordersPatientsBiopsy
2016
Loss of function mutations in ATP2A2 and psychoses: A case report and literature survey
Nakamura T, Kazuno A, Nakajima K, Kusumi I, Tsuboi T, Kato T. Loss of function mutations in ATP2A2 and psychoses: A case report and literature survey. Psychiatry And Clinical Neurosciences 2016, 70: 342-350. PMID: 27106560, DOI: 10.1111/pcn.12395.Peer-Reviewed Original ResearchConceptsDarier's diseaseStop codonBipolar disorderGenome-wide association studiesEffects of loss-of-function mutationsMinigene splicing assayCase reports of patientsChromosome 12q23-24.1Mutations of ATP2A2Loss-of-function mutationsAutosomal dominant skin disorderAssociation of schizophreniaPathophysiology of psychosisPremature stop codonReports of patientsCausative genetic mutationsLGD mutationsComorbidity of psychosisATP2A2 mutationsSplice siteAssociation studiesSplicing assayCoding regionHeterozygous mutationsCase report
2015
Somatic ATP2A2 mutation in a case of papular acantholytic dyskeratosis: mosaic Darier disease
Knopp EA, Saraceni C, Moss J, McNiff JM, Choate KA. Somatic ATP2A2 mutation in a case of papular acantholytic dyskeratosis: mosaic Darier disease. Journal Of Cutaneous Pathology 2015, 42: 853-857. PMID: 26154588, PMCID: PMC4843784, DOI: 10.1111/cup.12551.Peer-Reviewed Original ResearchConceptsPapular acantholytic dyskeratosisAcantholytic dyskeratosisATP2A2 mutationsDarier's diseasePeripheral blood DNAUncommon eruptionVulvocrural areaAcantholytic dermatosisPeripheral bloodUninvolved skinAnogenital areaHistological similaritiesPruritic papulesDyskeratosisNormal tissuesBlood DNAGenetic causeLesionsChestDiseaseWomenSomatic mosaicismMutations
2011
Pityriasis rubra pilaris: the clinical context of acantholysis and other histologic features
Ko CJ, Milstone LM, Choi J, McNiff JM. Pityriasis rubra pilaris: the clinical context of acantholysis and other histologic features. International Journal Of Dermatology 2011, 50: 1480-1485. PMID: 22097993, DOI: 10.1111/j.1365-4632.2011.04990.x.Peer-Reviewed Original ResearchConceptsCases of PRPPityriasis rubra pilarisCases of erythrodermaCases of psoriasisHistologic featuresClinical contextCorrect clinical settingPresence of acantholysisHailey-Hailey diseaseLichenoid infiltratePapulosquamous lesionsPemphigus vulgarisFocal acantholysisHistologic cluesErythrodermaDarier's diseaseAcantholysisClinical settingDermatology literatureDiseasePsoriasisBiopsyDifferent causesDiagnosisInfiltrates
1993
Secondary Hyperparathyroidism in Patients With Ichthyosis Is Not Caused by Vitamin D Deficiency or Ingestion of Retinoids
Milstone L, Bale S, Insogna K. Secondary Hyperparathyroidism in Patients With Ichthyosis Is Not Caused by Vitamin D Deficiency or Ingestion of Retinoids. JAMA Dermatology 1993, 129: 648-648. PMID: 8481031, DOI: 10.1001/archderm.1993.01680260120024.Peer-Reviewed Original ResearchConceptsSecondary hyperparathyroidismParathyroid hormoneVitamin DSerum PTH valuesVitamin D deficiencyDisorders of keratinizationNonbullous ichthyosiform erythrodermaD deficiencyPTH levelsPTH valuesClinical findingsBiopsy specimensPatientsDarier's diseaseIchthyosis vulgarisIchthyosiform erythrodermaPlasma samplesLamellar ichthyosisHyperparathyroidismEpidermolytic hyperkeratosisSeparate groupsDiseaseIchthyosisInheritance patternNew Haven
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