2025
Nonsyndromic epidermal differentiation disorders: New classification and nomenclature based on disease-associated genes leading to targeted therapy
Akiyama M, Choate K, Hernandez-Martin A, Aldwin-Easton M, Bodemer C, Gostyński A, Hovnanian A, Ishida-Yamamoto A, Malovitski K, O’Toole E, Paller A, Schmuth M, Schwartz J, Sprecher E, Teng J, Tournier C, Mazereeuw-Hautier J, Tadini G, Fischer J. Nonsyndromic epidermal differentiation disorders: New classification and nomenclature based on disease-associated genes leading to targeted therapy. British Journal Of Dermatology 2025, ljaf154. PMID: 40308026, DOI: 10.1093/bjd/ljaf154.Peer-Reviewed Original ResearchDisease-associated genesAutosomal recessive congenital ichthyosisDevelopment of targeted therapiesGene-based classificationErythrokeratodermia variabilis et progressivaExtensive cutaneous involvementAbnormal epidermal differentiationDarier-White diseaseHailey-Hailey diseaseCutaneous involvementGenetic changesCongenital ichthyosisTargeted therapyPhenotypic characteristicsAltered genesAdnexal structuresPalmoplantar keratodermaTherapeutic guidanceSyndrome subtypesClinical relevanceExtracutaneous tissuesDifferentiation disordersHystrixIchthyosisInherited conditionPalmoplantar epidermal differentiation disorders: a new classification towards pathogenesis-based therapy
Sprecher E, Ishida-Yamamoto A, Schwartz J, Akiyama M, Aldwin-Easton M, Choate K, Fischer J, Gostyński A, Tournier C, Hernandez-Martin A, Hovnanian A, Malovitski K, Mazereeuw-Hautier J, Paller A, Schmuth M, Tadini G, Teng J, Bodemer C, O’Toole E. Palmoplantar epidermal differentiation disorders: a new classification towards pathogenesis-based therapy. British Journal Of Dermatology 2025, ljaf054. PMID: 40106577, DOI: 10.1093/bjd/ljaf054.Peer-Reviewed Original Research
2012
BRAF mutation testing in clinical practice
Ziai J, Hui P. BRAF mutation testing in clinical practice. Expert Review Of Molecular Diagnostics 2012, 12: 127-138. PMID: 22369373, DOI: 10.1586/erm.12.1.Peer-Reviewed Original ResearchConceptsHairy cell leukemiaBRAF mutation testingPapillary thyroid carcinomaMalignant melanomaThyroid carcinomaCell leukemiaClinical practiceCutaneous malignant melanomaSerine/threonine-protein kinase BRAFCurrent clinical practiceImportant biological markerMEK/ERKTreatment paradigmClinical trialsHigh prevalenceBRAF inhibitorsBRAF mutationsMutation testingPrecision cancer therapyTherapeutic guidanceMutant BRAFLethal diseaseBiological markersCancerHuman cancers
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