Lamellar ichthyosis

Dermatology Online Journal

Volumn 11, Issue 4, 2005, Pages

  Victor, Frank ^a   Schaffer, Julie V ^a  

^a NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER A1; ABCA 12 TRANSPORTER; ARACHIDONATE 12 LIPOXYGENASE; ICHTHYNIN; LIPOXYGENASE; LIPOXYGENASE III; PROTEIN; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; ERYTHRODERMA; GENE MUTATION; GENETIC CODE; HISTORY OF MEDICINE; HUMAN; LAMELLAR ICHTHYOSIS; MALE; MEMBRANE; PHENOTYPE; PRESCHOOL CHILD;

EID: 30144433683     PISSN: 10872108     EISSN: 10872108     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

1. Akiyama M, et al. The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. Clin Exp Dermatol 2003;28:235
2. Candi E, et al. Transglutaminase 1 mutations in lamellar ichthyosis: loss of activity due to failure of activation by proteolytic processing. J Biol Chem 1998;273:13693
3. Hennies HC, et al. Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis. Am J Hum Genet 1998;62:1052
4. Jeon S, et al. Inability of keratinocytes lacking their specific transglutaminase to form cross-linked envelopes: absence of envelopes as a simple diagnostic test for lamellar ichthyosis. Proc Natl Acad Sci 1998;95:687
5. Lefèvre C, et al. Mutations in the transporter ABCA12 are associatred with lamellar ichthyosis type 2. Hum Molec Genet 2003;12:2369
6. Kelsell DP, et al. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet 2005;76:794
7. Redondo P, et al. Topical N-acetylcysteine for lamellar ichthyosis. Lancet 1999;354:1880
8. Choate KA, et al. Transglutaminase 1 delivery to lamellar ichthyosis keratinocytes. Hum Gene Ther 1996;7:2247
9. Choate KA, et al. Corrective gene transfer in the human skin disorder lamellar ichthyosis. Nat Med 1996;2:1263