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2024
Statins Inhibit Cutaneous Squamous Cell Carcinoma Cells
HACKETT A, COHEN A, RUTENBERG T, HODAK E, MOYAL L, ATZMONY L. Statins Inhibit Cutaneous Squamous Cell Carcinoma Cells. Acta Dermato Venereologica 2024, 104: 25097. PMID: 39185545, PMCID: PMC11367778, DOI: 10.2340/actadv.v104.25097.Peer-Reviewed Original ResearchLB941 KM-001, a novel TRPV3 inhibitor, demonstrates safety and preliminary efficacy in Phase 1b clinical study for the treatment of palmoplantar keratoderma
Cernova J, Eskin-Schwartz M, Atzmony L, Samuelov L, De Brito M, Chan J, Aviezer D, Brener E, Lederman R, Mashriki T, Michel D, Barak S, Braiman L, Sprecher E, O’Toole E. LB941 KM-001, a novel TRPV3 inhibitor, demonstrates safety and preliminary efficacy in Phase 1b clinical study for the treatment of palmoplantar keratoderma. Journal Of Investigative Dermatology 2024, 144: s164. DOI: 10.1016/j.jid.2024.06.1114.Peer-Reviewed Original Research412 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 ResearchPersistent 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 ResearchFacial hypopigmentation as an unusual manifestation of Demodex infestation – a case series
Holzman R, Hackett A, Pavlovsky L, Feuerman H, Hodak E, Didkovsky E, Segal R, Atzmony L. Facial hypopigmentation as an unusual manifestation of Demodex infestation – a case series. International Journal Of Dermatology 2023, 62: 1289-1291. PMID: 37162494, DOI: 10.1111/ijd.16703.Peer-Reviewed Original ResearchBiological treatment for bullous pemphigoid
Oren-Shabtai M, Mimouni D, Nosrati A, Atzmony L, Kaplan B, Barzilai A, Baum S. Biological treatment for bullous pemphigoid. Frontiers In Immunology 2023, 14: 1157250. PMID: 37180101, PMCID: PMC10172582, DOI: 10.3389/fimmu.2023.1157250.Peer-Reviewed Original ResearchConceptsBullous pemphigoidImmunosuppressive therapyPatients treated with rituximabLong-term corticosteroid useAdjuvant immunosuppressive therapyConventional immunosuppressive therapySteroid-sparing agentsAutoimmune subepidermal bullous diseaseFirst-line treatmentPrevious treatment failuresSeries of patientsFollow-up periodFollow-up visitSignificant side effectsNo adverse eventsSubepidermal bullous diseasesBP durationRecalcitrant BPRituximab coursesSystemic corticosteroidsClinical responseTreatment failureCorticosteroid useImmunobiological therapyBiologic therapyClinical features in adults with acquired cutis laxa: a retrospective review
O’Connell K, Schaefer M, Atzmony L, Vleugels R, Choate K, LaChance A, Min M. Clinical features in adults with acquired cutis laxa: a retrospective review. British Journal Of Dermatology 2023, 188: 800-816. PMID: 36849736, PMCID: PMC10230959, DOI: 10.1093/bjd/ljad043.Peer-Reviewed Original ResearchConceptsAcquired cutis laxaCutis laxaThorough systemic investigationRare dermatological conditionMedication exposureAdult patientsRetrospective reviewPatient historyDermatological conditionsGenetic predispositionGenetic mutationsPatientsSystemic investigationEnvironmental insultsExposureComorbiditiesEtiologyInsultLaxaSymptomatology
2022
Segmental basaloid follicular hamartomas derive from a post‐zygotic SMO p.L412F pathogenic variant and express hair follicle development‐related proteins in a pattern that distinguish them from basal cell carcinomas
Atzmony L, Ugwu N, Bercovitch LG, Robinson‐Bostom L, Ko CJ, Myung P, Choate KA. Segmental basaloid follicular hamartomas derive from a post‐zygotic SMO p.L412F pathogenic variant and express hair follicle development‐related proteins in a pattern that distinguish them from basal cell carcinomas. American Journal Of Medical Genetics Part A 2022, 188: 3525-3530. PMID: 35972041, PMCID: PMC9669121, DOI: 10.1002/ajmg.a.62951.Peer-Reviewed Original ResearchConceptsBasal cell carcinomaCell carcinomaFollicular hamartomaProliferation indexBasaloid skin tumorsSporadic basal cell carcinomasBasaloid follicular hamartomaKi-67 expressionLow proliferation indexCentral nervous systemWhole-exome sequencingSystemic involvementExpression of hedgehogMultiple lesionsSkin tumorsWnt/beta-catenin pathwayBasaloid lesionsNervous systemVariable involvementPathogenic variantsSegmental distributionPost-zygotic mutational eventSOX-9 expressionNormal tissuesExome sequencingInflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disorders
Atzmony L, Ugwu N, Hamilton C, Paller A, Zech L, Antaya R, Choate K. Inflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disorders. Pediatric Dermatology 2022, 39: 903-907. PMID: 35853659, PMCID: PMC9712156, DOI: 10.1111/pde.15094.Peer-Reviewed Original ResearchConceptsInflammatory linear verrucous epidermal nevusVerrucous epidermal nevusEpidermal nevusCARD14 mutationsHotspot mutationsLinear verrucous epidermal nevusPathogenesis-directed therapyCohort of patientsErythematous scaly plaquesRare skin diseaseLines of BlaschkoSomatic pathogenic variantsNSDHL mutationsHistopathological evaluationInflammatory disordersScaly plaquesHistopathologic evaluationHistopathological criteriaLinear porokeratosisSkin lesionsAffected skinPatientsSkin diseasesClinical descriptorsHeterogenous group
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