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Compound Heterozygous Mutations with a Novel Variant in Integrin Beta4 Cause Epidermolysis Bullosa with Pyloric Atresia and Urologic Abnormalities

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참고문헌 (16)

  1. Nakamura H, "Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene(PLEC1)", J Mol Diagn, 7, pp.28~35 (2005)
  2. Charlesworth A, "Identification of a lethal form of epi-dermolysis bullosa simplex associated with a homozygous genetic mutation in plectin", J Invest Dermatol, 121, pp.1344~1348 (2003)
  3. Schaapveld RQ, "Hemidesmosome formation is initiated by the beta4 integrin subunit, requires complex formation of beta4 and HD1", plectin, and involves a direct interaction between beta4 and the bullous pemphigoid antigen 180, 1998, pp.142, 271~284
  4. Chung HJ, "Epidermolysis bullosa with pyloric atresia", Dermatol Clin, 28, pp.43~54 (2010)
  5. Dang N, "Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome : three novel mutations and a review of the literature", Acta Derm Venereol, 88, pp.438~448 (2008)
  6. Koster J, "Role of binding of plectin to the integrin beta4 subunit in the assembly of hemidesmosomes", Mol Biol Cell, 15, pp.1211~1223 (2004)
  7. Wang JY, "Epidermolysis bullosa with pyloric atresia consistently demonstrates concurrent low intrabasal epidermal and lamina lucida cleavage planes : a survey of six cases", J Eur Acad Dermatol Venereol, 34, pp.e200~e203 (2020)
  8. Kim DK, "Epidermolysis bullosa simplex(Dowling-Meara type)associated with pyloric atresia and congenital urologic abnormalities", Yonsei Med J, 41, pp.411~415 (2000)
  9. Hattori M, "Mild phenotype of junctional epidermolysis bullosa with pyloric atresia due to a novel mutation of the ITGB4 gene", J Dermatol, 45, pp.e203~e204 (2018)
  10. Masunaga T, "Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel 594insC", Q425P mutations in integrin beta4 gene(ITGB4), 2004, pp.13, 61~64
  11. Yoshihara N, "A case of junctional epidermolysis bullosa with pyloric atresia due to integrin β4 gene mutations", Dermatol Open J, 4, pp.7~9 (2019)
  12. "ClinVar;VCV000202108.5"[URL]
  13. Jonkman MF, "Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex", J Invest Dermatol, 119, pp.1275~1281 (2002)
  14. Chavanas S, "Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing", Hum Mol Genet, 8, pp.2097~2105 (1999)
  15. Hayashi AH, "Congenital pyloric atresia and junctional epidermolysis bullosa : a report of long-term survival and a review of the literature", J Pediatr Surg, 26, pp.1341~1345 (1991)
  16. Mellerio JE, "Pyloric atresia-junctional epidermolysis bullosa syndrome : mutations in the integrin beta4 gene(ITGB4)in two unrelated patients with mild disease", Br J Dermatol, 139, pp.862~871 (1998)

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