Epidermolysis bullosa: New and emerging trends

American Journal of Clinical Dermatology

Volumn 3, Issue 6, 2002, Pages 371-380

  Pai, Shan ^a,b   Marinkovich, M Peter ^a,b  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b VA PALO ALTO HEALTH CARE SYSTEM   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA TOCOPHEROL; ANTIMALARIAL AGENT; CORTICOSTEROID; CYCLOSPORIN; RETINOID;

BLISTER; CANCER PREVENTION; CANCER SCREENING; DISEASE SEVERITY; EPIDERMOLYSIS BULLOSA; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EPIDERMOLYSIS BULLOSA SIMPLEX; GENE THERAPY; NUTRITIONAL SUPPORT; PRIORITY JOURNAL; REVIEW; SKIN CARE; SQUAMOUS CELL CARCINOMA; WOUND CARE;

BASEMENT MEMBRANE; DERMIS; EPIDERMIS; EPIDERMOLYSIS BULLOSA; GENE THERAPY; HUMANS; MUTAGENESIS, SITE-DIRECTED;

EID: 0036345511     PISSN: 11750561     EISSN: None     Source Type: Journal    
DOI: 10.2165/00128071-200203060-00001     Document Type: Review

References (89)

1. The dermal-epidermal junction
2. The molecular genetics of basement membrane diseases
3. The expression of keratin genes in epidermis and cultured epidermal cells
4. Identification of a new major hemidesmosomal protein. HDl: A major high molecular mass component of isolated hemidesmosomes
5. The complete cDNA coding sequence and tissue-specific expression of the mouse laminin alpha4 chain
6. Human bullous pemphigoid antigen (BPAG1): Amino acid sequence deduced from cloned cDNAs predicts biologically important peptide segments and protein domains
7. Linking integrin alpha6beta4-based cell adhesion to the intermediate filament cytoskeleton: Direct interaction between the beta4 subunit and plectin at multiple molecular sites
8. Role of the bullous pemphigoid antigen 180 (BP180) in the assembly of hemidesmosomes and cell adhesion: Reexpression of BP180 in generalized atrophic benign epidermolysis bullosa keratinocytes
9. Kalinin: An epithelium-specific basement membrane adhesion molecule that is a component of anchoring filaments
10. The anchoring filament protein kalinin is synthesized and secreted as a high molecular weight precursor
11. The dermal-epidermal junction of human skin contains a novel laminin variant
12. Cloning and primary structural analysis of the bullous pemphigoid autoantigen BP180
13. Integrin a6b4 complex is located in hemidesomosomes, suggesting a major role in epidermal cell-basement membrane adhesion
14. Human amnion contains a novel laminin variant, laminin 7, which like laminin 6, covalently associates with laminin 5 to promote stable epithelial-stromal attachment
15. The a6 b4 integrin is a receptor for both laminin and kalinin
16. The structure and function of type VII collagen
17. Laminin 5 binds the NC-1 domain of type VII collagen
18. Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa
19. Epidermolysis bullosa: A spectrum of clinical phenotypes explained by molecular heterogeneity
20. Biology of anchoring fibrils: Lessons from dystrophic epidermolysis bullosa
21. Inherited epidermolysis bullosa
22. Epidermolysis bullosa simplex: Evidence in two families for keratin gene abnormalities
23. Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyzes
24. Genetic linkage of recessive epidermolysis bullosa to the type VII collagen gene
25. Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex
26. Hereditare anlage zur blasenbildung
27. Recurrent bullous eruption on the feet in a child
28. Kalinin is abnormally expressed in epithelial basement membranes of Herlitz's junctional epidermolysis bullosa patients
29. 180-kD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa
30. Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the g2 subunit of nicein/kalinin (LAMININ-5)
31. A homozygous nonsense mutation in the β 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa
32. Mutations in the g2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa
33. Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa
34. The basement membrane proteins kalinin and nicein are structurally and immunologically identical
35. Epidermolysis bullosa hereditaria with junctional blistering in an adult
36. Generalized atrophic benign epidermolysis bullosa
37. Molecular basis of the dystrophic and junctional form of epidermolysis bullosa: Mutations in the type VII collagen and kalinin (laminin-5) genes
38. Human type VII collagen: cDNA cloning and chromosomal mapping of the gene
39. Epidermolysis bullosa complicated by squamous cell carcinoma: Report of 10 cases
40. Ultrastructural findings in epidermolysis bullosa
41. Update on inherited bullous dermatoses
42. Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization
43. A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy
44. Plectin transcript diversity: Identification and tissue distribution of variants with distinct first coding exons and rodless isoforms
45. A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia
46. Integrin β 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia
47. Esophageal stenosis in childhood: Dystrophic epidermolysis bullosa without skin blistering due to collagen VII mutations
48. Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: Missense versus nonsense
49. Epidermolysis bullosa with congenital pyloric atresia: Novel mutations in the β 4 integrin gene (ITGB4) and genotype/phenotype correlations
50. Hemidesmosome heterogeneity in junctional epidermolysis bullosa revealed by morphometric analysis
51. Evaluation of anchoring fibrils and other components of the dermal-epidermal junction in dystrophic epidermolysis bullosa by a quantitative ultrastructural technique
52. Histopathologic and ultrastructional findings in certain genodermatoses
53. Treatment of junctional epidermolysis bullosa with epidermal autografts
54. Treatment of chronic erosions of junctional epidermolysis bullosa with human epidermal allografts
55. Radiation therapy for squamous cell carcinoma in dystrophic epidermolysis: Case reports and literature review
56. Surgical treatment and postoperative splinting of recessive dystrophic epidermolysis bullosa
57. Experience in the surgical management of the hand in dystrophic epidermolysis bullosa
58. Surgical treatment of contracture and syndactyly of children with epidermolysis bullosa
59. The surgical management of dystrophic epidermolysis bullosa (excluding the hand)
60. Oral and gastrointestinal manifestations of epidermolysis bullosa
61. The anesthetic management of patients with dystrophic epidermolysis bullosa: A review of 44 patients over a 10 year period
62. Endoscopic balloon dilation of esophageal strictures in children
63. Gastrostomy and growth in dystrophic epidermolysis bullosa
64. Constipation in epidermolysis bullosa: Successful treatment with a liquid fiber-containing formula
65. Review of ophthalmic findings in 204 patients with epidermolysis bullosa
66. The eye in epidermolysis bullosa
67. Dental carries risk of hereditary epidermolysis bullosa
68. Nutritional and metabolic profile of children with epidermolysis bullosa
69. Nutrition management of patients with epidermolysis bullosa
70. Generalized atrophic benign epidermolysis bullosa
71. Correction of the anemia of epidermolysis bullosa with intravenous iron and erythropoietin
72. Intravenous iron (III) hydroxide-sucrose complex for anemia in epidermolysis bullosa
73. Lack of efficacy of phenytoin in recessive dystrophic epidermolysis bullosa: Epidermolysis Bullosa Study Group
74. Epidermolysis bullosa dystrophica treated with vitamin E and oral corticosteroids
75. Vitamin E treatment of dermolytic bullous dermatosis: A controlled study
76. High-dose tocopherol acetate therapy in epidermolysis bullosa siblings of the Cockayne-Touraine type
77. Retinoid therapy of recessive dystrophic epidermolysis bullosa
78. Epidermolysis bullosa simplex responding to isotretinoin
79. Cyclosporin for dystrophic epidermolysis bullosa
80. Exogenous laminin 5 protein therapy corrects JEB keratinocyte adhesive defects in vitro and basement membrane defects in a JEB skin equivalent system
81. Genetic correction of inherited epidermal disorders
82. Corrective transduction of human epidermal stem cells in laminin-5-dependent junctional epidermolysis bullosa
83. In vivo restoration of laminin 5 β 3 expression and function in junctional epidermolysis bullosa
84. Gene correction of integrin β 4-dependent pyloric atresia-junctional epidermolysis bullosa keratinocytes establishes a role for β 4 tyrosines 1422 and 1440 in hemidesmosome assembly
85. Gene therapy: Progress, problems, prospects
86. Different frequency of gene targeting events by the RNA-DNA oligonucleotide among epithelial cells
87. The gene gun: Current applications in cutaneous gene therapy
88. Differential expression of tissue-specific promoters by gene gun