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Absence of Detectable a6 Integrin in Pyloric Atresia-Junctional Epidermolysis Bullosa Syndrome: Application for Prenatal Diagnosis in a Family at Risk for Recurrence

Absence of Detectable a6 Integrin in Pyloric Atresia-Junctional Epidermolysis Bullosa Syndrome:... Abstract Background and Design: The expression of basement membrane—related antigens was surveyed in 2 Japanese siblings who died of pyloric atresia—junctional epidermolysis bullosa syndrome in early infancy. Results: The skin specimens of both patients demonstrated complete absence of detectable α6 integrin and markedly reduced amounts of β4 integrin. All the other subtypes of epidermolysis bullosa used as controls demonstrated normal intensity of expression of α6 and β4 integrin. In contrast to the negative immunoreactivity of monoclonal antibody GB3 in gravis-Herlitz junctional epidermolysis bullosa (n=4), a bright linear pattern along the epidermal basement membrane was demonstrated in the skin of both siblings with pyloric atresia—junctional epidermolysis bullosa syndrome. Based on these data, a monoclonal antibody against α6 integrin was successfully used as a prenatal diagnostic probe for a skin biopsy specimen from a fetus at risk for pyloric atresia— junctional epidermolysis bullosa syndrome in this family. Conclusion: The absence of detectable α6 integrin, but not β4 integrin, in these cases raises the possibility that α6 integrin or its ligands are responsible for the pyloric atresia—junctional epidermolysis bullosa syndrome phenotype seen in this family.Arch Dermatol. 1996;132:919-925 References 1. Fine JD, Bauer EA, Briggaman RA, et al. Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa . J Am Acad Dermatol. 1991; 24:119-135.Crossref 2. Lestringant GG, Akel SR, Qayed KI. The pyloric atresia—junctional epidermolysis bullosa syndrome: report of a case and review of the literature . Arch Dermatol. 1992;128:1083-1086.Crossref 3. Nazzaro V, Nicolini U, De LL, Berti E, Caputo R. Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia . J Med Genet. 1990;27:244-248.Crossref 4. Lacour JP, Hoffman P, Bastiani GF, Boutte P, Pisani A, Ortonne JP. Lethal junctional epidermolysis bullosa with normal expression of BM 600 and antropyloric atresia . Eur J Pediatr. 1992;151:252-257.Crossref 5. Hashimoto I, Schnyder UW, Anton LI. Epidermolysis bullosa hereditaria with junctional blistering in an adult . Dermatologica. 1976;152:72-86.Crossref 6. Tidman MJ, Eady RA. Hemidesmosome heterogeneity in junctional epidermolysis bullosa revealed by morphometric analysis . J Invest Dermatol. 1986; 86:51-56.Crossref 7. Verrando P, Blanchet BC, Pisani A, et al. Monoclonal antibody GB3 defines a widespread defect of several basement membranes and a keratinocyte dysfunction in patients with lethal junctional epidermolysis bullosa . Lab Invest. 1991;64:85-92. 8. Heagerty AH, Kennedy AR, Eady RA, et al. GB3 monoclonal antibody for diagnosis of junctional epidermolysis bullosa . Lancet. 1986;1:860.Crossref 9. Fine JD, Horiguchi Y, Couchman JR. 19-DEJ-1, a hemidesmosome-anchoring filament complex-associated monoclonal antibody: definition of a new skin basement membrane antigenic defect in junctional and dystrophic epidermolysis bullosa . Arch Dermatol. 1989;125:520-523.Crossref 10. Fine JD, Holbrook KA, Elias S, Anton LI, Rauskolb R. Applicability of 19-DEJ-1 monoclonal antibody for the prenatal diagnosis or exclusion of junctional epidermolysis bullosa . Prenat Diagn. 1990;10:219-229.Crossref 11. Burgeson RE, Chiquet N, Deutzmann R, et al. A new nomenclature for laminins . Matrix Biol. 1994;14:209-211.Crossref 12. Aberdam D, Galliano MF, Vailly J, et al. Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5) . Nat Genet. 1994;6:299-304.Crossref 13. Kivirikko S, McGrath JA, Baudoin C, et al. A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa . Hum Mol Genet. 1995;4:959-962.Crossref 14. McGrath JA, Pulkkinen L, Christiano AM, Leigh IM, Eady RAJ, Uitto J. Altered laminin 5 expression due to mutations in the gene encoding the β3 chains (LAMB3) in generalized atrophic benign epidermolysis bullosa . J Invest Dermatol. 1995;104:467-474.Crossref 15. Pulkkinen L, Christiano AM, Airenne T, Haakana H, Tryggvason K, Uitto J. Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa . Nat Genet. 1994;6:293-297.Crossref 16. Pulkkinen L, Christiano AM, Gerecke DR, et al. A homozygous nonsense mutation in the β3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa . Genomics. 1994;24:357-360.Crossref 17. Stanley JR, Woodley DT, Katz SI. Identification and partial characterization of pemphigoid antigen extracted from normal human skin . J Invest Dermatol. 1984;82:108-111.Crossref 18. Shimizu H, McDonald JN, Kennedy AR, Eady RA. Demonstration of intra- and extracellular localization of bullous pemphigoid antigen using cryofixation and freeze substitution for postembedding immunoelectron microscopy . Arch Dermatol Res. 1989;281:443-448.Crossref 19. Tanaka T, Korman NJ, Shimizu H, et al. Production of rabbit antibodies against carboxy-terminal epitopes encoded by bullous pemphigoid cDNA . J Invest Dermatol. 1990;94:617-623.Crossref 20. Fine JD. Epidermolysis bullosa . J Invest Dermatol. 1985;85:47-49.Crossref 21. Amagai M, Elgart GW, Klaus KV, Stanley JR. Southern analysis of the 230-kD bullous pemphigoid antigen gene in normal humans, animals, and patients with junctional epidermolysis bullosa . J Invest Dermatol. 1991;97: 249-253.Crossref 22. Diaz LA, Ratrie Hd, Saunders WS, et al. Isolation of a human epidermal cDNA corresponding to the 180-kD autoantigen recognized by bullous pemphigoid and herpes gestationis sera . J Clin Invest. 1990;86:1088-1094.Crossref 23. Ishiko A, Shimizu H, Kikuchi A, Ebihara T, Hashimoto T, Nishikawa T. Human autoantibodies against the 230-kD bullous pemphigoid antigen (BPAG1) bind only to the intracellular domain of the hemidesmosome, whereas those against the 180-kD bullous pemphigoid antigen (BPAG2) bind along the plasma membrane of the hemidesmosome in normal human and swine skin . J Clin Invest. 1993;91:1608-1615.Crossref 24. Jonkman MF, de Jong MC, Heeres K, et al. 180-kD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa . J Clin Invest. 1995;95:1345-1352.Crossref 25. McGrath JA, Gatalica B, Christiano AM, et al. Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa . Nat Genet. 1995;11:83-86.Crossref 26. Shimizu H, Fine J-D, Suzumori K, Hatta N, Shozu M, Nishikawa T. Prenatal exclusion of pyloric atresia—junctional epidermolysis bullosa syndrome . J Am Acad Dermatol. 1994;31:429-433.Crossref 27. Phillips RJ, Aplin JD, Lake BD. Antigenic expression of integrin alpha 6 beta 4 in junctional epidermolysis bullosa . Histopathology. 1994;24:571-576.Crossref 28. Gil SG, Brown TA, Ryan MC, Carter WG. Junctional epidermolysis bullosis . J Invest Dermatol. 1994;103:31s-38s.Crossref 29. Vidal F, Aberdam D, Miquel C, et al. Integrin beta-4 mutations associated with junctional epidermolysis bullosa with pyloric atresia . Nat Genet. 1995;10:229-234.Crossref 30. Sonnenberg A, Janssen H, Hogervorst F. A complex of platelet glycoproteins Ic and IIa identified by a rat monoclonal antibody . J Biol Chem. 1987;103: 10376-10383. 31. Kennel SJ, Foote LJ, Falcioni R, et al. Analysis of the tumor-associated antigen T58-180: identity with α6β4 in the integrin superfamily . J Biol Chem. 1989; 264:15515-15521. 32. Kennel SJ, Epler RG, Lankford TK, et al. Second generation monoclonal antibodies to the human integrin α6β4 . Hybridoma. 1990;9:243-255.Crossref 33. Leigh IM, Purkis PE, Bruckner-Tuderman L. LH7.2 monoclonal antibody detects type VII collagen in the sublamina densa zone of ectodermally-derived epithelia, including skin . Epithelia. 1987;1:17-29. 34. Shimizu H, McDonald JN, Gunner DB, et al. Epidermolysis bullosa acquisita antigen and the carboxy terminus of type VII collagen have a common immunolocalization to anchoring fibrils and lamina densa of basement membrane . Br J Dermatol. 1990;122:577-585.Crossref 35. Shimizu H, Ishida YA, Eady RA. The use of silver-enhanced 1-nm gold probes for light and electron microscopic localization of intra- and extracellular antigens in skin . J Histochem Cytochem. 1992;40:883-888.Crossref 36. Heagerty AH, Kennedy AR, Gunner DB, Eady RA. Rapid prenatal diagnosis and exclusion of epidermolysis bullosa using novel antibody probes . J Invest Dermatol. 1986;86:603-605.Crossref 37. Heagerty AH, Kennedy AR, Leigh IM, Purkis P, Eady RA. Identification of an epidermal basement membrane defect in recessive forms of dystrophic epidermolysis bullosa by LH 7:2 monoclonal antibody: use in diagnosis . Br J Dermatol. 1986;115:125-131.Crossref 38. Shimizu H, Onodera Y, Ikeda S, Ogawa H, Suzumori K, Nishikawa T. Prenatal diagnosis of epidermolysis bullosa . Dermatology. 1994;188:46-49.Crossref 39. Hynes RO. Integrins: a family of cell surface receptors . Cell. 1987;48:549-554.Crossref 40. Sonnenberg A, Linders CJ, Daams JH, Kennel SJ. The alpha 6 beta 1 (VLA-6) and alpha 6 beta 4 protein complexes . J Cell Sci. 1990;96:207-217. 41. Sonnenberg A, Calafat J, Janssen H, et al. Integrin alpha 6/beta 4 complex is located in hemidesmosomes, suggesting a major role in epidermal cell— basement membrane adhesion . J Cell Biol. 1991;113:907-917.Crossref 42. Natali PG, Nicotra MR, Bigotti A, De Martino C. Localization of the a6 and b4 integrin subunits in normal human non-lymphoid tissues . J Cell Sci. 1992; 103:1243-1247. 43. Nazzaro V, Berti E, Cerri A, Brusasco A, Cavalli R, Caputo R. Expression of integrins in junctional and dystrophic epidermolysis bullosa . J Invest Dermatol. 1990;95:60-64.Crossref 44. Fine J-D, Quaranta V, Horiguchi Y, Yoshiki T, Ueda M, Briggaman RA. Relative expression of four hemidesmosome-associated proteins in junctional epidermolysis bullosa, a disease of epithelial dysadhesion with known abnormal hemidesmosomes . J Cell Biol. 1991;115:34a. Abstract. 45. Jonkman MF, de Jong MCJM, Heeres K, Sonnenberg A. Expression of integrin alpha 6 beta 4 in junctional epidermolysis bullosa . J Invest Dermatol. 1992; 99:489-496.Crossref 46. Vailly J, Pulkkinen L, Miquel C, et al. Identification of a homozygous one-basepair deletion in exon 14 of the Lamb3 gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrence . J Invest Dermatol. 1995;104:462-466.Crossref 47. McGrath JA, Kivirikko S, Ciatti S, et al. A homozygous nonsense mutation in the α3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in the fetus at risk . Genomics. 1995;29:282-284.Crossref 48. Dolan CR, Smith LT, Sybert VP. Prenatal detection of epidermolysis bullosa letalis with pyloric atresia in a fetus by abnormal ultrasound and elevated alpha-fetoprotein . Am J Med Genet. 1993;47:395-400.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Dermatology American Medical Association

Absence of Detectable a6 Integrin in Pyloric Atresia-Junctional Epidermolysis Bullosa Syndrome: Application for Prenatal Diagnosis in a Family at Risk for Recurrence

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Publisher
American Medical Association
Copyright
Copyright © 1996 American Medical Association. All Rights Reserved.
ISSN
0003-987X
eISSN
1538-3652
DOI
10.1001/archderm.1996.03890320067011
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Abstract

Abstract Background and Design: The expression of basement membrane—related antigens was surveyed in 2 Japanese siblings who died of pyloric atresia—junctional epidermolysis bullosa syndrome in early infancy. Results: The skin specimens of both patients demonstrated complete absence of detectable α6 integrin and markedly reduced amounts of β4 integrin. All the other subtypes of epidermolysis bullosa used as controls demonstrated normal intensity of expression of α6 and β4 integrin. In contrast to the negative immunoreactivity of monoclonal antibody GB3 in gravis-Herlitz junctional epidermolysis bullosa (n=4), a bright linear pattern along the epidermal basement membrane was demonstrated in the skin of both siblings with pyloric atresia—junctional epidermolysis bullosa syndrome. Based on these data, a monoclonal antibody against α6 integrin was successfully used as a prenatal diagnostic probe for a skin biopsy specimen from a fetus at risk for pyloric atresia— junctional epidermolysis bullosa syndrome in this family. Conclusion: The absence of detectable α6 integrin, but not β4 integrin, in these cases raises the possibility that α6 integrin or its ligands are responsible for the pyloric atresia—junctional epidermolysis bullosa syndrome phenotype seen in this family.Arch Dermatol. 1996;132:919-925 References 1. Fine JD, Bauer EA, Briggaman RA, et al. Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa . J Am Acad Dermatol. 1991; 24:119-135.Crossref 2. Lestringant GG, Akel SR, Qayed KI. The pyloric atresia—junctional epidermolysis bullosa syndrome: report of a case and review of the literature . Arch Dermatol. 1992;128:1083-1086.Crossref 3. Nazzaro V, Nicolini U, De LL, Berti E, Caputo R. Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia . J Med Genet. 1990;27:244-248.Crossref 4. Lacour JP, Hoffman P, Bastiani GF, Boutte P, Pisani A, Ortonne JP. Lethal junctional epidermolysis bullosa with normal expression of BM 600 and antropyloric atresia . Eur J Pediatr. 1992;151:252-257.Crossref 5. Hashimoto I, Schnyder UW, Anton LI. Epidermolysis bullosa hereditaria with junctional blistering in an adult . Dermatologica. 1976;152:72-86.Crossref 6. Tidman MJ, Eady RA. Hemidesmosome heterogeneity in junctional epidermolysis bullosa revealed by morphometric analysis . J Invest Dermatol. 1986; 86:51-56.Crossref 7. Verrando P, Blanchet BC, Pisani A, et al. Monoclonal antibody GB3 defines a widespread defect of several basement membranes and a keratinocyte dysfunction in patients with lethal junctional epidermolysis bullosa . Lab Invest. 1991;64:85-92. 8. Heagerty AH, Kennedy AR, Eady RA, et al. GB3 monoclonal antibody for diagnosis of junctional epidermolysis bullosa . Lancet. 1986;1:860.Crossref 9. Fine JD, Horiguchi Y, Couchman JR. 19-DEJ-1, a hemidesmosome-anchoring filament complex-associated monoclonal antibody: definition of a new skin basement membrane antigenic defect in junctional and dystrophic epidermolysis bullosa . Arch Dermatol. 1989;125:520-523.Crossref 10. Fine JD, Holbrook KA, Elias S, Anton LI, Rauskolb R. Applicability of 19-DEJ-1 monoclonal antibody for the prenatal diagnosis or exclusion of junctional epidermolysis bullosa . Prenat Diagn. 1990;10:219-229.Crossref 11. Burgeson RE, Chiquet N, Deutzmann R, et al. A new nomenclature for laminins . Matrix Biol. 1994;14:209-211.Crossref 12. Aberdam D, Galliano MF, Vailly J, et al. Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5) . Nat Genet. 1994;6:299-304.Crossref 13. Kivirikko S, McGrath JA, Baudoin C, et al. A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa . Hum Mol Genet. 1995;4:959-962.Crossref 14. McGrath JA, Pulkkinen L, Christiano AM, Leigh IM, Eady RAJ, Uitto J. Altered laminin 5 expression due to mutations in the gene encoding the β3 chains (LAMB3) in generalized atrophic benign epidermolysis bullosa . J Invest Dermatol. 1995;104:467-474.Crossref 15. Pulkkinen L, Christiano AM, Airenne T, Haakana H, Tryggvason K, Uitto J. Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa . Nat Genet. 1994;6:293-297.Crossref 16. Pulkkinen L, Christiano AM, Gerecke DR, et al. A homozygous nonsense mutation in the β3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa . Genomics. 1994;24:357-360.Crossref 17. Stanley JR, Woodley DT, Katz SI. Identification and partial characterization of pemphigoid antigen extracted from normal human skin . J Invest Dermatol. 1984;82:108-111.Crossref 18. Shimizu H, McDonald JN, Kennedy AR, Eady RA. Demonstration of intra- and extracellular localization of bullous pemphigoid antigen using cryofixation and freeze substitution for postembedding immunoelectron microscopy . Arch Dermatol Res. 1989;281:443-448.Crossref 19. Tanaka T, Korman NJ, Shimizu H, et al. Production of rabbit antibodies against carboxy-terminal epitopes encoded by bullous pemphigoid cDNA . J Invest Dermatol. 1990;94:617-623.Crossref 20. Fine JD. Epidermolysis bullosa . J Invest Dermatol. 1985;85:47-49.Crossref 21. Amagai M, Elgart GW, Klaus KV, Stanley JR. Southern analysis of the 230-kD bullous pemphigoid antigen gene in normal humans, animals, and patients with junctional epidermolysis bullosa . J Invest Dermatol. 1991;97: 249-253.Crossref 22. Diaz LA, Ratrie Hd, Saunders WS, et al. Isolation of a human epidermal cDNA corresponding to the 180-kD autoantigen recognized by bullous pemphigoid and herpes gestationis sera . J Clin Invest. 1990;86:1088-1094.Crossref 23. Ishiko A, Shimizu H, Kikuchi A, Ebihara T, Hashimoto T, Nishikawa T. Human autoantibodies against the 230-kD bullous pemphigoid antigen (BPAG1) bind only to the intracellular domain of the hemidesmosome, whereas those against the 180-kD bullous pemphigoid antigen (BPAG2) bind along the plasma membrane of the hemidesmosome in normal human and swine skin . J Clin Invest. 1993;91:1608-1615.Crossref 24. Jonkman MF, de Jong MC, Heeres K, et al. 180-kD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa . J Clin Invest. 1995;95:1345-1352.Crossref 25. McGrath JA, Gatalica B, Christiano AM, et al. Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa . Nat Genet. 1995;11:83-86.Crossref 26. Shimizu H, Fine J-D, Suzumori K, Hatta N, Shozu M, Nishikawa T. Prenatal exclusion of pyloric atresia—junctional epidermolysis bullosa syndrome . J Am Acad Dermatol. 1994;31:429-433.Crossref 27. Phillips RJ, Aplin JD, Lake BD. Antigenic expression of integrin alpha 6 beta 4 in junctional epidermolysis bullosa . Histopathology. 1994;24:571-576.Crossref 28. Gil SG, Brown TA, Ryan MC, Carter WG. Junctional epidermolysis bullosis . J Invest Dermatol. 1994;103:31s-38s.Crossref 29. Vidal F, Aberdam D, Miquel C, et al. Integrin beta-4 mutations associated with junctional epidermolysis bullosa with pyloric atresia . Nat Genet. 1995;10:229-234.Crossref 30. Sonnenberg A, Janssen H, Hogervorst F. A complex of platelet glycoproteins Ic and IIa identified by a rat monoclonal antibody . J Biol Chem. 1987;103: 10376-10383. 31. Kennel SJ, Foote LJ, Falcioni R, et al. Analysis of the tumor-associated antigen T58-180: identity with α6β4 in the integrin superfamily . J Biol Chem. 1989; 264:15515-15521. 32. Kennel SJ, Epler RG, Lankford TK, et al. Second generation monoclonal antibodies to the human integrin α6β4 . Hybridoma. 1990;9:243-255.Crossref 33. Leigh IM, Purkis PE, Bruckner-Tuderman L. LH7.2 monoclonal antibody detects type VII collagen in the sublamina densa zone of ectodermally-derived epithelia, including skin . Epithelia. 1987;1:17-29. 34. Shimizu H, McDonald JN, Gunner DB, et al. Epidermolysis bullosa acquisita antigen and the carboxy terminus of type VII collagen have a common immunolocalization to anchoring fibrils and lamina densa of basement membrane . Br J Dermatol. 1990;122:577-585.Crossref 35. Shimizu H, Ishida YA, Eady RA. The use of silver-enhanced 1-nm gold probes for light and electron microscopic localization of intra- and extracellular antigens in skin . J Histochem Cytochem. 1992;40:883-888.Crossref 36. Heagerty AH, Kennedy AR, Gunner DB, Eady RA. Rapid prenatal diagnosis and exclusion of epidermolysis bullosa using novel antibody probes . J Invest Dermatol. 1986;86:603-605.Crossref 37. Heagerty AH, Kennedy AR, Leigh IM, Purkis P, Eady RA. Identification of an epidermal basement membrane defect in recessive forms of dystrophic epidermolysis bullosa by LH 7:2 monoclonal antibody: use in diagnosis . Br J Dermatol. 1986;115:125-131.Crossref 38. Shimizu H, Onodera Y, Ikeda S, Ogawa H, Suzumori K, Nishikawa T. Prenatal diagnosis of epidermolysis bullosa . Dermatology. 1994;188:46-49.Crossref 39. Hynes RO. Integrins: a family of cell surface receptors . Cell. 1987;48:549-554.Crossref 40. Sonnenberg A, Linders CJ, Daams JH, Kennel SJ. The alpha 6 beta 1 (VLA-6) and alpha 6 beta 4 protein complexes . J Cell Sci. 1990;96:207-217. 41. Sonnenberg A, Calafat J, Janssen H, et al. Integrin alpha 6/beta 4 complex is located in hemidesmosomes, suggesting a major role in epidermal cell— basement membrane adhesion . J Cell Biol. 1991;113:907-917.Crossref 42. Natali PG, Nicotra MR, Bigotti A, De Martino C. Localization of the a6 and b4 integrin subunits in normal human non-lymphoid tissues . J Cell Sci. 1992; 103:1243-1247. 43. Nazzaro V, Berti E, Cerri A, Brusasco A, Cavalli R, Caputo R. Expression of integrins in junctional and dystrophic epidermolysis bullosa . J Invest Dermatol. 1990;95:60-64.Crossref 44. Fine J-D, Quaranta V, Horiguchi Y, Yoshiki T, Ueda M, Briggaman RA. Relative expression of four hemidesmosome-associated proteins in junctional epidermolysis bullosa, a disease of epithelial dysadhesion with known abnormal hemidesmosomes . J Cell Biol. 1991;115:34a. Abstract. 45. Jonkman MF, de Jong MCJM, Heeres K, Sonnenberg A. Expression of integrin alpha 6 beta 4 in junctional epidermolysis bullosa . J Invest Dermatol. 1992; 99:489-496.Crossref 46. Vailly J, Pulkkinen L, Miquel C, et al. Identification of a homozygous one-basepair deletion in exon 14 of the Lamb3 gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrence . J Invest Dermatol. 1995;104:462-466.Crossref 47. McGrath JA, Kivirikko S, Ciatti S, et al. A homozygous nonsense mutation in the α3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in the fetus at risk . Genomics. 1995;29:282-284.Crossref 48. Dolan CR, Smith LT, Sybert VP. Prenatal detection of epidermolysis bullosa letalis with pyloric atresia in a fetus by abnormal ultrasound and elevated alpha-fetoprotein . Am J Med Genet. 1993;47:395-400.Crossref

Journal

Archives of DermatologyAmerican Medical Association

Published: Aug 1, 1996

References