Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis

Journal of Allergy and Clinical Immunology

Volumn 136, Issue 2, 2015, Pages 507-509.e19

  Taylan, Fulya ^a,b   Nilsson, Daniel ^a,b   Asad, Samina ^a   Lieden, Agne ^a   Wahlgren, Carl Fredrik ^a   Winge, Mårten C G ^a   Bilcha, Kassahun Desalegn ^c   Nordenskjöld, Magnus ^a   Bradley, Maria ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b KAROLINSKA INSTITUTE   (Sweden)

^c UNIVERSITY OF GONDAR   (Ethiopia)

Author keywords

[No Author keywords available]

Indexed keywords

FILAGGRIN; ANTIGEN; CALCIUM BINDING PROTEIN; CRNN PROTEIN, HUMAN; FILAGGRIN-2 PROTEIN, HUMAN; HRNR PROTEIN, HUMAN; INTERMEDIATE FILAMENT PROTEIN; MEMBRANE PROTEIN; PROTEIN S 100; TCHH PROTEIN, HUMAN; TRICHOHYALIN-LIKE 1 PROTEIN, HUMAN; TUMOR PROTEIN;

ADOLESCENT; ADULT; AFRICAN; ATOPIC DERMATITIS; CHILD; CHROMOSOME 1Q; CHROMOSOME BAND; CLINICAL ARTICLE; CONTROLLED STUDY; DARIER DISEASE; ETHIOPIAN; EXOME; FEMALE; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; ICHTHYOSIS VULGARIS; LETTER; LOSS OF FUNCTION MUTATION; MALE; NONSENSE MUTATION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; WHOLE EXOME SEQUENCING; XEROSIS; DERMATITIS, ATOPIC; ETHIOPIA; GENETIC HETEROGENEITY; GENETICS; HIGH THROUGHPUT SEQUENCING; IMMUNOLOGY; INFANT; MUTATION; PATHOLOGY; PRESCHOOL CHILD; SKIN;

ADOLESCENT; ADULT; ANTIGENS; CALCIUM-BINDING PROTEINS; CHILD; CHILD, PRESCHOOL; DERMATITIS, ATOPIC; ETHIOPIA; EXOME; FEMALE; GENETIC HETEROGENEITY; GENETIC LOCI; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; ICHTHYOSIS VULGARIS; INFANT; INTERMEDIATE FILAMENT PROTEINS; MALE; MEMBRANE PROTEINS; MUTATION; NEOPLASM PROTEINS; S100 PROTEINS; SKIN;

EID: 84938740025     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2015.02.010     Document Type: Article

References (7)

1. F.J.D. Smith, A.D. Irvine, A. Terron-Kwiatkowski, A. Sandilands, L.E. Campbell, Y. Zhao, and et al. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris Nat Genet 38 2006 337 342
2. M.C. Winge, K.D. Bilcha, A. Liedén, D. Shibeshi, A. Sandilands, C.F. Wahlgren, and et al. Novel filaggrin mutation but no other loss-of-function variants found in Ethiopian patients with atopic dermatitis Br J Dermatol 165 2011 1074 1080
3. I. Polcari, L. Becker, S.L. Stein, M.S. Smith, and A.S. Paller Filaggrin gene mutations in African Americans with both ichthyosis vulgaris and atopic dermatitis Pediatr Dermatol 31 2014 489 492
4. I. Marenholz, V.A. Rivera, J. Esparza-Gordillo, A. Bauerfeind, M.A. Lee-Kirsch, A. Ciechanowicz, and et al. Association screening in the epidermal differentiation complex (EDC) identifies an SPRR3 repeat number variant as a risk factor for eczema J Invest Dermatol 131 2011 1644 1649
5. D.J. Margolis, J. Gupta, A.J. Apter, O. Hoffstad, M. Papadopoulos, T.R. Rebbeck, and et al. Exome sequencing of filaggrin and related genes in African-American children with atopic dermatitis J Invest Dermatol 134 2014 2272 2274
6. P. Fortugno, L. Furio, M. Teson, M. Berretti, M. El Hachem, G. Zambruno, and et al. The 420K LEKTI variant alters LEKTI proteolytic activation and results in protease deregulation: implications for atopic dermatitis Hum Mol Genet 21 2012 4187 4200
7. A. Kato, K. Fukai, N. Oiso, N. Hosomi, T. Murakami, and M. Ishii Cutaneous biology association of SPINK5 gene polymorphisms with atopic dermatitis in the Japanese population Br J Dermatol 148 2003 665 669