Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti

Journal of Clinical Investigation

Volumn 125, Issue 4, 2015, Pages 1703-1707

  Choate, Keith A ^a   Lu, Yin ^a   Zhou, Jing ^a   Elias, Peter M ^b   Zaidi, Samir ^a   Paller, Amy S ^c   Farhi, Anita ^a   Nelson Williams, Carol ^a   Crumrine, Debra ^b   Milstone, Leonard M ^a   Lifton, Richard P ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c NORTHWESTERN UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOKERATIN 1; CYTOKERATIN 10; KERATOHYALIN; KRT1 PROTEIN, HUMAN;

ADOLESCENT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CELL PROLIFERATION; CELL VACUOLE; CHILD; CHILDHOOD; CHROMOSOME 12; CONTROLLED STUDY; CUTANEOUS PARAMETERS; DISEASE COURSE; DISEASE DURATION; DISEASE SEVERITY; EPIDERMOLYTIC PALMOPLANTAR KERATODERMA; ERYTHRODERMA; FOLLOW UP; FRAMESHIFT MUTATION; HETEROZYGOSITY LOSS; HUMAN; HUMAN CELL; HUMAN TISSUE; ICHTHYOSIS; ICHTHYOSIS WITH CONFETTI; IMMUNOLOCALIZATION; INTERMEDIATE FILAMENT; MALE; MITOTIC RECOMBINATION; MOSAICISM; ONSET AGE; PALMOPLANTAR KERATODERMA; PARAKERATOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; REVERTANT; SKIN FRAGILITY; SKIN PIGMENTATION; SOMATIC MUTATION; ADULT; CELL NUCLEUS; CYTOSKELETON; GENETIC TRANSFECTION; GENETICS; KERATINOCYTE; METABOLISM; MOLECULAR GENETICS; PATHOLOGY; PHENOTYPE; PHYSIOLOGY; PROTEIN TRANSPORT; SINGLE NUCLEOTIDE POLYMORPHISM; TUMOR CELL LINE; ULTRASTRUCTURE;

ADULT; AGE OF ONSET; AMINO ACID SEQUENCE; CELL LINE, TUMOR; CELL NUCLEUS; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 12; CYTOSKELETON; FRAMESHIFT MUTATION; HUMANS; ICHTHYOSIS; INTERMEDIATE FILAMENTS; KERATIN-1; KERATINOCYTES; LOSS OF HETEROZYGOSITY; MALE; MOLECULAR SEQUENCE DATA; MOSAICISM; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN TRANSPORT; TRANSFECTION;

EID: 84926289431     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI64415     Document Type: Article

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