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 ResearchMeSH KeywordsAdolescentAdultChildFemaleFluorescent Antibody TechniqueHigh-Throughput Nucleotide SequencingHumansMaleMutationNevusNIMA-Related KinasesPrognosisSkin NeoplasmsYoung AdultConceptsWhole-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