2017
Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma
Boyden LM, Vincent NG, Zhou J, Hu R, Craiglow BG, Bayliss SJ, Rosman IS, Lucky AW, Diaz LA, Goldsmith LA, Paller AS, Lifton RP, Baserga SJ, Choate KA. Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma. American Journal Of Human Genetics 2017, 100: 978-984. PMID: 28575652, PMCID: PMC5473720, DOI: 10.1016/j.ajhg.2017.05.003.Peer-Reviewed Original ResearchConceptsYeast complementation studiesNew genetic determinantsCeramide synthesis pathwayKb inversionComplementation studiesRecessive Mendelian disordersCDNA sequencingGenome sequencingCeramide generationMendelian disordersSynthesis pathwayBase changesGenetic determinantsMutationsSequencingExome sequencingRetinoic acidProgressive symmetric erythrokeratodermaEpidermal functionMultiple probandsAlternative pathwayPathwayScaly skinSplicingExons
2016
Somatic Mutations in NEK9 Cause Nevus Comedonicus
Levinsohn JL, Sugarman JL, Genomics Y, McNiff JM, Antaya RJ, Choate KA. Somatic Mutations in NEK9 Cause Nevus Comedonicus. American Journal Of Human Genetics 2016, 98: 1030-1037. PMID: 27153399, PMCID: PMC4863661, DOI: 10.1016/j.ajhg.2016.03.019.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingNevus comedonicusAcne vulgarisNormal follicular differentiationFirst-degree relativesFollicular plugsRare disorderSevere diseaseNormal folliclesFollicular differentiationComedo formationGain of functionMost adolescentsAffected tissuesKeratin 10Differentiation markersComedonesFollicular homeostasisSomatic mutationsCystsFolliclesGenetic determinantsKinase activationPotential regulatorEctopic expression