Truncated type XVII collagen expression in a patient with non-Herlitz junctional epidermolysis bullosa caused by a homozygous splice-site mutation

Laboratory Investigation

Volumn 81, Issue 6, 2001, Pages 887-894

  Van Leusden, Manuel R ^a   Pas, Hendri H ^a   Gedde Dahl, Tobias ^b   Sonnenberg, Arnoud ^c   Jonkman, Marcel F ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b UNIVERSITY OF OSLO   (Norway)

^c NETHERLANDS CANCER INSTITUTE   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA; COLLAGEN; PEPTIDE FRAGMENT; RECOMBINANT DNA;

AGED; ARTICLE; BULLOUS SKIN DISEASE; CASE REPORT; CELL CULTURE; DNA SEQUENCE; ELECTRON MICROSCOPY; EPIDERMOLYSIS BULLOSA; EXON; FEMALE; GENE MUTATION; HEMIDESMOSOME; HUMAN; IMMUNOBLOTTING; KERATINOCYTE; PEMPHIGOID; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TRIPLE HELIX; FLUORESCENT ANTIBODY TECHNIQUE; GENETICS; HOMOZYGOTE; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE;

AGED; BASE SEQUENCE; COLLAGEN; DNA, RECOMBINANT; EPIDERMOLYSIS BULLOSA; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; HOMOZYGOTE; HUMANS; IMMUNOBLOTTING; MUTATION; PEPTIDE FRAGMENTS; RNA, MESSENGER;

EID: 0034743681     PISSN: 00236837     EISSN: None     Source Type: Journal    
DOI: 10.1038/labinvest.3780297     Document Type: Article

References (45)

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2. A recombinant form of the human BP180 ectodomain forms collagen-like homotrimeric complex
3. The localization of bullous pemphigoid antigen 180 (BP180) in hemidesmosomes is mediated by its cytoplasmic domain and seems to be regulated by the beta4 integrin subunit
4. Fluorescence overlay antigen mapping of the epidermal basement membrane zone: I. Geometric errors
5. A homozygous in-frame deletion in the collagenous domain of bullous pephoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa
6. Premature termination codons are present on both alleles of the bullous pemphigoid antigen 2/type XVII collagen gene in five Austrian families with generalized atrophic benign epidermolysis bullosa
7. Cycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice-site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosa
8. 19-DE J-1, a monoclonal antibody to the hemidesmosome-anchoring filament complex, is the only reliable immunohistochemical probe for all major forms of junctional epidermolysis bullosa
9. Novel homozygous and compound heterozygous COL17A1 mutations associated with junctional epidermolysis bullosa
10. Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa
11. Cloning of the human type XVII collagen gene (COL17a1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa
12. Junctional epidermolysis bullosa inversa (locus EBR2A) assigned to 1q31 by linkage and association to LAMC1
13. Cloning and primary structural analysis of the bullous pemphigoid autoantigen BP180
14. Epidermolysis bullosa hereditaria with junctional blistering in an adult
15. Generalized atrophic benign epidermolysis bullosa
16. Demonstration of the molecular shape of BP180, a 180-kDa pemphigoid antigen and its potential for trimer formation
17. Molecular genetic studies of a human epidermal autoantigen (the 180 kD bullous pemphigoid antigen/BP180): Identification of functionally important sequences within the BP180 molecule and evidence for an interaction between BP180 and α6 integrin
18. The N terminus of the transmembrane protein BP180 interacts with the N-terminal domain of BP230, thereby mediating keratin cytoskeleton anchorage to the cell surface at the site of the hemidesmosome
19. 180 kD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa
20. Expression of integrin α6β4 in junctional epidermolysis bullosa
21. Generalized atrophic benign epidermolysis bullosa: Either 180-kd bullous pemphoid antigen or laminin 5 deficiency
22. Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion
23. A hemidesmosomal transmembrane collagenous molecule, the 180-kDa bullous pemphigoid antigen (BPA II), is phosphorylated with 12-Otetradecanoylphorbol-13-acetate in a human squamous cell carcinoma cell line (DJM-1)
24. 180-kDa bullous pemphigoid antigen defective generalized atrophic benign epidermolysis bullosa: Report of four cases with an unusually mild phenotype
25. A homozygous deletion mutation in the gene encoding the 180-kDa bullous pemphigoid antigen (BPAG2) in a family with generalized atrophic benign epidermolysis bullosa
26. Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa
27. Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition
28. Cultivation of human epidermal keratinocytes in serum-free growth medium
29. HD4, a 180 kDa bullous pemphigoid antigen, is a major transmembrane glycoprotein of the hemidesmosome
30. Signals for the selection of a splice site in pre-mRNA: Computer analysis of splice junction sequences and like sequences
31. Bullous pemphigoid and linear IgA dermatosis sera recognize a similar 120-kDa keratinocyte collagenous glycoprotein with antigenic cross-reactivity to BP180
32. Type XVII collagen (BP180) and LAD-1 are present as separate trimeric complexes
33. Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa
34. Compound heterozygosity for novel splice site mutations in the BPAG2/COL17A1 gene underlies generalized atrophic benign epidermolysis bullosa
35. The extracellular domain of BP180 binds laminin-5
36. Hemidesmosome formation is initiated by the β4 integrin subunit, requires complex formation of β4 and HD1/plectin, and involves a direct interaction between β4 and the bullous pemphigoid antigen 180
37. Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder: The example of the collagen type XVII (COL17A1)locus in generalised atrophic benign epidermolysis bullosa
38. Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: Relation to biological and clinical phenotypes of junctional epidermolysis bullosa
39. RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression
40. New insights into the immunoultrastructural organization of cutaneous basement membrane zone molecules
41. The 97 kDa linear IgA bullous dermatosis antigen is not expressed in a patient with generalized atrophic benign epidermolysis bullosa with a novel homozygous G258X mutation in COL17A1
42. Hemizygosity for a glycine substitution in collagen XVII: Unfolding and degradation of the ectodomain
43. Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa
44. Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant