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 gene
2019
Phenotypic expansion of POFUT1 loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo‐centric lesions
Atzmony L, Zaki TD, Antaya RJ, Choate KA. Phenotypic expansion of POFUT1 loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo‐centric lesions. American Journal Of Medical Genetics Part A 2019, 179: 2469-2473. PMID: 31566882, PMCID: PMC7914397, DOI: 10.1002/ajmg.a.61362.Peer-Reviewed Original ResearchConceptsDowling-Degos diseasePhenotypic expansionMosaic disordersFunction mutationsDistinct clinical presentationsSomatic copy-neutral lossGermline heterozygous mutationsWhole-exome sequencingClinical presentationEczematous plaquesFollicular papulesAffected skinSkin diseasesBlaschko's linesCopy-neutral lossHeterozygous mutationsReticulated hyperpigmentationExome sequencingNormal keratinocytesPostzygotic mutationDisordersExpression levelsSomatic mutationsLesionsKeratinocytes
2018
Psychological stress and psoriasis: a systematic review and meta‐analysis
Snast I, Reiter O, Atzmony L, Leshem Y, Hodak E, Mimouni D, Pavlovsky L. Psychological stress and psoriasis: a systematic review and meta‐analysis. British Journal Of Dermatology 2018, 178: 1044-1055. PMID: 29124739, DOI: 10.1111/bjd.16116.Peer-Reviewed Original ResearchConceptsCase-control studyOdds ratioPsychological stressExacerbation of psoriasisOnset of psoriasisCross-sectional studyStress disorder diagnosisStressful eventsPsoriasis exacerbationRetrospective studyCohort studySystematic reviewMeta-analysesPsoriasisCochrane LibraryMeta-analysisPatientsExacerbationDisorder diagnosisStress reactivityAssociationSurveyStress levelsPsycINFOOdds
2016
Intra-familial Variation in Clinical Phenotype of CARD14-related Psoriasis.
Eskin-Schwartz M, Basel-Vanagaite L, David M, Lagovsky I, Ben-Amitai D, Smirin-Yosef P, Atzmony L, Hodak E. Intra-familial Variation in Clinical Phenotype of CARD14-related Psoriasis. Acta Dermato Venereologica 2016, 96: 885-887. PMID: 26984337, DOI: 10.2340/00015555-2405.Peer-Reviewed Original ResearchConceptsIntra-familial variationClinical phenotypeDisease onsetHLA-C*0602Multifactorial chronic inflammatory diseaseVariability of clinical presentationTime of disease onsetEarly disease onsetChronic inflammatory diseaseAffected family membersCARD14 geneClinical presentationCoding region polymorphismsActivating mutationsSeverely affected individualsPsoriatic phenotypePustular typesInflammatory diseasesPsoriasisCARD14Region polymorphismsDisease expressionCo-segregationDiseaseOnset