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. 1992 Sep;90(3):687–692. doi: 10.1172/JCI115938

Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases.

J Uitto 1, A M Christiano 1
PMCID: PMC329917  PMID: 1381721

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Amagai M., Karpati S., Prussick R., Klaus-Kovtun V., Stanley J. R. Autoantibodies against the amino-terminal cadherin-like binding domain of pemphigus vulgaris antigen are pathogenic. J Clin Invest. 1992 Sep;90(3):919–926. doi: 10.1172/JCI115968. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Arnemann J., Spurr N. K., Buxton R. S. The human gene (DSG3) coding for the pemphigus vulgaris antigen is, like the genes coding for the other two known desmogleins, assigned to chromosome 18. Hum Genet. 1992 May;89(3):347–350. doi: 10.1007/BF00220557. [DOI] [PubMed] [Google Scholar]
  3. Bauer E. A. Collagenase in recessive dystrophic epidermolysis bullosa. Ann N Y Acad Sci. 1985;460:311–320. doi: 10.1111/j.1749-6632.1985.tb51178.x. [DOI] [PubMed] [Google Scholar]
  4. Bonifas J. M., Rothman A. L., Epstein E. H., Jr Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities. Science. 1991 Nov 22;254(5035):1202–1205. doi: 10.1126/science.1720261. [DOI] [PubMed] [Google Scholar]
  5. Burgeson R. E., Lunstrum G. P., Rokosova B., Rimberg C. S., Rosenbaum L. M., Keene D. R. The structure and function of type VII collagen. Ann N Y Acad Sci. 1990;580:32–43. doi: 10.1111/j.1749-6632.1990.tb17915.x. [DOI] [PubMed] [Google Scholar]
  6. Bächinger H. P., Morris N. P., Lunstrum G. P., Keene D. R., Rosenbaum L. M., Compton L. A., Burgeson R. E. The relationship of the biophysical and biochemical characteristics of type VII collagen to the function of anchoring fibrils. J Biol Chem. 1990 Jun 15;265(17):10095–10101. [PubMed] [Google Scholar]
  7. Carter D. M., Lin A. N., Varghese M. C., Caldwell D., Pratt L. A., Eisinger M. Treatment of junctional epidermolysis bullosa with epidermal autografts. J Am Acad Dermatol. 1987 Aug;17(2 Pt 1):246–250. doi: 10.1016/s0190-9622(87)70199-6. [DOI] [PubMed] [Google Scholar]
  8. Carter W. G., Ryan M. C., Gahr P. J. Epiligrin, a new cell adhesion ligand for integrin alpha 3 beta 1 in epithelial basement membranes. Cell. 1991 May 17;65(4):599–610. doi: 10.1016/0092-8674(91)90092-d. [DOI] [PubMed] [Google Scholar]
  9. Compton J. G., DiGiovanna J. J., Santucci S. K., Kearns K. S., Amos C. I., Abangan D. L., Korge B. P., McBride O. W., Steinert P. M., Bale S. J. Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q. Nat Genet. 1992 Jul;1(4):301–305. doi: 10.1038/ng0792-301. [DOI] [PubMed] [Google Scholar]
  10. Coulombe P. A., Hutton M. E., Letai A., Hebert A., Paller A. S., Fuchs E. Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. Cell. 1991 Sep 20;66(6):1301–1311. doi: 10.1016/0092-8674(91)90051-y. [DOI] [PubMed] [Google Scholar]
  11. Diaz L. A., Ratrie H., 3rd, Saunders W. S., Futamura S., Squiquera H. L., Anhalt G. J., Giudice G. J. Isolation of a human epidermal cDNA corresponding to the 180-kD autoantigen recognized by bullous pemphigoid and herpes gestationis sera. Immunolocalization of this protein to the hemidesmosome. J Clin Invest. 1990 Oct;86(4):1088–1094. doi: 10.1172/JCI114812. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Fine J. D., Bauer E. A., Briggaman R. A., Carter D. M., Eady R. A., Esterly N. B., Holbrook K. A., Hurwitz S., Johnson L., Lin A. Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry. J Am Acad Dermatol. 1991 Jan;24(1):119–135. doi: 10.1016/0190-9622(91)70021-s. [DOI] [PubMed] [Google Scholar]
  13. Giudice G. J., Squiquera H. L., Elias P. M., Diaz L. A. Identification of two collagen domains within the bullous pemphigoid autoantigen, BP180. J Clin Invest. 1991 Feb;87(2):734–738. doi: 10.1172/JCI115054. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Hatzfeld M., Weber K. The coiled coil of in vitro assembled keratin filaments is a heterodimer of type I and II keratins: use of site-specific mutagenesis and recombinant protein expression. J Cell Biol. 1990 Apr;110(4):1199–1210. doi: 10.1083/jcb.110.4.1199. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Hovnanian A., Duquesnoy P., Amselem S., Blanchet-Bardon C., Lathrop M., Dubertret L., Goossens M. Exclusion of linkage between the collagenase gene and generalized recessive dystrophic epidermolysis bullosa phenotype. J Clin Invest. 1991 Nov;88(5):1716–1721. doi: 10.1172/JCI115489. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Jensen P. K., Bolund L. Tissue culture of human epidermal keratinocytes: a differentiating model system for gene testing and somatic gene therapy. J Cell Sci. 1991 Oct;100(Pt 2):255–259. doi: 10.1242/jcs.100.2.255. [DOI] [PubMed] [Google Scholar]
  17. Li K. H., Sawamura D., Giudice G. J., Diaz L. A., Mattei M. G., Chu M. L., Uitto J. Genomic organization of collagenous domains and chromosomal assignment of human 180-kDa bullous pemphigoid antigen-2, a novel collagen of stratified squamous epithelium. J Biol Chem. 1991 Dec 15;266(35):24064–24069. [PubMed] [Google Scholar]
  18. Parente M. G., Chung L. C., Ryynänen J., Woodley D. T., Wynn K. C., Bauer E. A., Mattei M. G., Chu M. L., Uitto J. Human type VII collagen: cDNA cloning and chromosomal mapping of the gene. Proc Natl Acad Sci U S A. 1991 Aug 15;88(16):6931–6935. doi: 10.1073/pnas.88.16.6931. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Prockop D. J. Seminars in medicine of the Beth Israel Hospital, Boston. Mutations in collagen genes as a cause of connective-tissue diseases. N Engl J Med. 1992 Feb 20;326(8):540–546. doi: 10.1056/NEJM199202203260807. [DOI] [PubMed] [Google Scholar]
  20. Rousselle P., Lunstrum G. P., Keene D. R., Burgeson R. E. Kalinin: an epithelium-specific basement membrane adhesion molecule that is a component of anchoring filaments. J Cell Biol. 1991 Aug;114(3):567–576. doi: 10.1083/jcb.114.3.567. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Ryynänen J., Sollberg S., Olsen D. R., Uitto J. Transforming growth factor-beta up-regulates type VII collagen gene expression in normal and transformed epidermal keratinocytes in culture. Biochem Biophys Res Commun. 1991 Oct 31;180(2):673–680. doi: 10.1016/s0006-291x(05)81118-0. [DOI] [PubMed] [Google Scholar]
  22. Ryynänen M., Knowlton R. G., Parente M. G., Chung L. C., Chu M. L., Uitto J. Human type VII collagen: genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa. Am J Hum Genet. 1991 Oct;49(4):797–803. [PMC free article] [PubMed] [Google Scholar]
  23. Ryynänen M., Knowlton R. G., Uitto J. Mapping of epidermolysis bullosa simplex mutation to chromosome 12. Am J Hum Genet. 1991 Nov;49(5):978–984. [PMC free article] [PubMed] [Google Scholar]
  24. Ryynänen M., Ryynänen J., Sollberg S., Iozzo R. V., Knowlton R. G., Uitto J. Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils. J Clin Invest. 1992 Mar;89(3):974–980. doi: 10.1172/JCI115680. [DOI] [PMC free article] [PubMed] [Google Scholar]
  25. Sawamura D., Li K., Chu M. L., Uitto J. Human bullous pemphigoid antigen (BPAG1). Amino acid sequences deduced from cloned cDNAs predict biologically important peptide segments and protein domains. J Biol Chem. 1991 Sep 25;266(27):17784–17790. [PubMed] [Google Scholar]
  26. Sawamura D., Nomura K., Sugita Y., Mattei M. G., Chu M. L., Knowlton R., Uitto J. Bullous pemphigoid antigen (BPAG1): cDNA cloning and mapping of the gene to the short arm of human chromosome 6. Genomics. 1990 Dec;8(4):722–726. doi: 10.1016/0888-7543(90)90261-r. [DOI] [PubMed] [Google Scholar]
  27. Stanley J. R. Pemphigus and pemphigoid as paradigms of organ-specific, autoantibody-mediated diseases. J Clin Invest. 1989 May;83(5):1443–1448. doi: 10.1172/JCI114036. [DOI] [PMC free article] [PubMed] [Google Scholar]
  28. Stanley J. R., Tanaka T., Mueller S., Klaus-Kovtun V., Roop D. Isolation of complementary DNA for bullous pemphigoid antigen by use of patients' autoantibodies. J Clin Invest. 1988 Dec;82(6):1864–1870. doi: 10.1172/JCI113803. [DOI] [PMC free article] [PubMed] [Google Scholar]
  29. Stepp M. A., Spurr-Michaud S., Tisdale A., Elwell J., Gipson I. K. Alpha 6 beta 4 integrin heterodimer is a component of hemidesmosomes. Proc Natl Acad Sci U S A. 1990 Nov;87(22):8970–8974. doi: 10.1073/pnas.87.22.8970. [DOI] [PMC free article] [PubMed] [Google Scholar]
  30. Tang D. C., DeVit M., Johnston S. A. Genetic immunization is a simple method for eliciting an immune response. Nature. 1992 Mar 12;356(6365):152–154. doi: 10.1038/356152a0. [DOI] [PubMed] [Google Scholar]
  31. Timpl R., Dziadek M. Structure, development, and molecular pathology of basement membranes. Int Rev Exp Pathol. 1986;29:1–112. [PubMed] [Google Scholar]
  32. Uitto J., Bauer E. A., Moshell A. N. Symposium on epidermolysis bullosa: molecular biology and pathology of the cutaneous basement membrane zone. Jefferson Medical College, Philadelphia, Pennsylvania, October 4 and 5, 1991. J Invest Dermatol. 1992 Mar;98(3):391–395. doi: 10.1111/1523-1747.ep12499822. [DOI] [PubMed] [Google Scholar]
  33. Uitto J., Chung-Honet L. C., Christiano A. M. Molecular biology and pathology of type VII collagen. Exp Dermatol. 1992 Jul;1(1):2–11. doi: 10.1111/j.1600-0625.1992.tb00065.x. [DOI] [PubMed] [Google Scholar]
  34. Vassar R., Coulombe P. A., Degenstein L., Albers K., Fuchs E. Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease. Cell. 1991 Jan 25;64(2):365–380. doi: 10.1016/0092-8674(91)90645-f. [DOI] [PubMed] [Google Scholar]
  35. Verrando P., Pisani A., Ortonne J. P. The new basement membrane antigen recognized by the monoclonal antibody GB3 is a large size glycoprotein: modulation of its expression by retinoic acid. Biochim Biophys Acta. 1988 Jul 7;942(1):45–56. doi: 10.1016/0005-2736(88)90273-8. [DOI] [PubMed] [Google Scholar]
  36. Wetzels R. H., Robben H. C., Leigh I. M., Schaafsma H. E., Vooijs G. P., Ramaekers F. C. Distribution patterns of type VII collagen in normal and malignant human tissues. Am J Pathol. 1991 Aug;139(2):451–459. [PMC free article] [PubMed] [Google Scholar]
  37. Woodley D. T., Burgeson R. E., Lunstrum G., Bruckner-Tuderman L., Reese M. J., Briggaman R. A. Epidermolysis bullosa acquisita antigen is the globular carboxyl terminus of type VII procollagen. J Clin Invest. 1988 Mar;81(3):683–687. doi: 10.1172/JCI113373. [DOI] [PMC free article] [PubMed] [Google Scholar]

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