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Molecular basis of Japanese with Herlitz epidermolysis bullosa and Its application to the diagnosis and prenatal diagnosis

Research Project

Project/Area Number 07457191
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Dermatology
Research InstitutionKeio University

Principal Investigator

SHIMIZU Hiroshi  Keio Univ, Sch, Med., Associate Prof., 医学部・皮膚科, 助教授 (00146672)

Co-Investigator(Kenkyū-buntansha) AMAGAI Masayuki  Keio Univ, Sch, Med., Assist.Prof., 医学部, 講師 (90212563)
HASHIMOTO Takashi  Kurume Univ.Shc.Med., Professor, 医学部・皮膚科, 教授 (20129597)
NISHIKAWA Takeji  Keio Univ, Sch, Med., Professor, 医学部, 教授 (50051579)
Project Period (FY) 1995 – 1996
Project Status Completed (Fiscal Year 1996)
Budget Amount *help
¥7,300,000 (Direct Cost: ¥7,300,000)
Fiscal Year 1996: ¥2,100,000 (Direct Cost: ¥2,100,000)
Fiscal Year 1995: ¥5,200,000 (Direct Cost: ¥5,200,000)
Keywordsepidermolysis bullosa / Herlitz / prenatal diagnosis / LAMB3 / laminin5 / lethal type / DNA
Research Abstract

Laminin 5 is a candidate gene/protein system for most patients with junctional epidermolysis bullosa (JEB), a heterogeneous conditions with descriptions of both lethal and non-lethal variants. Laminin 5 consists of three subunit polypeptide chains, a3, b3 and g2, encoded by distinct genes LAMA3, LAMB3 and LAMC2, respectively. Recent study indicated that the two mutational hotspots in LAMB3 gene, R42X and R635X,were noted in over 50% of the mutant LAMB3 alleles in JEB.To elucidate the prevalence of these mutational hotspots in Japanese patients with JEB,genomic DNA from 12 distinct families with JEB were analyzed by PCR,heteroduplex and restriction enzyme digestion system. As results, no R42X and R635X mutations were detected in any of 24 alleles wer have examined. These results indicated that the mutational hotspots of laminin 5 in Japanese JEB might be different from those of Caucasians. Subsequently, we have found two new mutations of LAMB3 gene in two unrelated Japanese family with Herlitz JEB.Based on these data, we have successfully performed DNA based prenatal diagno is for the fetuses at risk in those two families.

Report

(3 results)
  • 1996 Annual Research Report   Final Research Report Summary
  • 1995 Annual Research Report
  • Research Products

    (35 results)

All Other

All Publications (35 results)

  • [Publications] Shimizu H.et al.: "Absence of detectable 6 integrin in pykoric atresia-junctional epidermolysis bullosa syndrome and its application for prenatal diagnosis in a family at risk for recurrence." Arch Dermatol. 132. 919-925 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Shimizu H.et al.: "Molecular basis of recessive dystrophic epidermolysis bullosa:genotype/phenotype correlation in a case of moderate clinical severity." J Invest Dermatol. 106. 119-124 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Shimizu H.et al.: "Heterogeneous reactivity with LH7.2 and the first prenatal diagnosis of generalized recessive dystrophic epidermolysis bullos among Japanese patients." Dermatology. 192. 203-207 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Pulkkinen L.et al.: "Homozygous delection mutations in the plectin gene(PLFC1)in patients with epidermolysis bullosa simplex associated with lateonset muscular dystrophy." Hum Mol Genet. 5. 1539-1546 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Shimizu H.et al.: "Absence of R42X and R635X mutations in the LAMB3 gene in 12 Japanese patients with junctional epidermolysis bullosa." Arch Dermatol Res. (in press).

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Shimizu H et al.: "Absence of detectable alpha6 integrin in pyloric atresia-junctional epidermolysis bullosa syndrome and its application for prenatal diagnosis in a family at risk for recurrence." Arch Dermatol. 132. 919-925 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Zillikens D et al.: "A novel subepidermal blistering disease with autoantibodies to a 200-kDa antigen of he basement membrane zone." J Invest Dermatol. 106. 465-470 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Shimizu H et al.: "Molecular basis of recessive dystrophic epidermolysis bullosa : genotype/phenotype correlation in a case of moderate clinical severity." J Invest Dermatol. 106. 119-124 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Shimizu H et al.: "Heterogeneous reactivity with LH7.2 and the first prenatal diagnosis of generalized recessive dystrophic epidermolysis bullosa among Japanese patients." Dermatology. 192. 203-207 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Ishiko A et al.: "Epidermolysis bullosa acquisita : report of a case with comparative immunogold electron microscopic study using pre- and post-embedding labelling." Br J Dermatol. 134. 147-151 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Ishiko A et al.: "97-kD linear IgA bullous dermatosis (LAD) antigen localizes to the lamina lucida of the epidermal basement membrane." J Invest Dermatol. 106. 739-743 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Horiguchi Y et al.: "An acquired bullous dermatosis due to autoimmune reaction against uncein." Br J Dermatol. 134. 934-938 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Chen K-R et al.: "Coexistence of psoriasis and an unusual IgG-mediated subepidermal bullous dermatosis : identification of a novel 200-kDa lower lamina lucida target antigen." Br J Dermatol. 134. 340-346 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Christiano AM et al.: "Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1)" Molecular Medicine. 2. 59-76 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Ban M et al.: "Kindler's syndrome with recurrence of bullae in the fifth decade." Br J Dermatol. 135. 503-504 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Nomura K et al.: "A novel keratin 5 mutation in Dowling-Meara epidermolysis bullosa simplex." J Invest Dermatol. 107. 253-254 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Pulkkinen L et al.: "Homozygous delection mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy." Hum Mol Genet. 5. 1539-1546 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Masunaga T et al.: "Localization of laminin-5 in the epidermal basement membrane." J Histochem Cyto-chem. 44. 1223-1230 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Shimizu H et al.: "Absence of R42X and R635X mutations in the LAMB3 gene in 12 Japanese patients with junctional epidermolysis bullosa." Arch Dermatol Res. (in press).

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Shimizu H et al.: "Immunohistochemical, ultrastructural and molecular features of Kindler's syndrome distinguish it from dystrophic epidermolysis bullosa." Arch Dermatol. (in submission).

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Takizawa Y et al.: "Novel ITGB4 mutations in a patients with junctional epidermolysis bullosa with pyloric atresia and negative basement membrane zone immunofluorescence for the alpha6 integrin subunit." J Invest Dermatol. (in submission).

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Shimizu H et al.: "Successful prenatal exclusions of an unspecified subtypes of severe epidermolysis bullosa." Int J Dermatol. (in submission).

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Shimizu H et al.: "Most anchoring fibrils in human skin originate and terminate in the lamina densa." Lab Invest. (in submission).

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Shimizu H,Suzumori K,Hatta N,Nishikawa T: "Absence of detectable α6 integrin in pyloric atresia-junctional epidermolysis bullosa syndrome and its application for prenatal diagnosis in a family at risk for recurrence" Arch Dermatol. 132. 919-925 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] Shimizu H,McGrath JA,Christiano AM,Nishikawa T,Uitto J: "Molecular basis of recessive dystrophic epidermolysis bullosa:genotype/phenotype correlation in a case of moderate clinical saverity" J Invest Dermatol. 106. 119-124 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] Shimizu H,Suzumori K,Nishikawa T: "Heterogeneous reactivity with LH7.2 and the first prenatal diagnosis of generalized recessive dystrophic epidermolysis bullosa amon Japanese patients" Dermatology. 192. 203-207 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] Pulkkinen L,Smith FJD,Shimizu H,Murata S,Yaoita H,Hachisuga H,Nishikawa T,McLean WHI,Uitto J: "Homozygous delection mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy" Hum Mol Genet. 5. 1539-1546 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] Shimizu H,Takizawa Y,McGrath JA,Pulkkinen L,Christiano AM,Uitto J,Burgeson RE,Iwatsuki K,Niimi N,Noguchi M,Imayama S,Abe Y,Shirakata Y,Hagiwara S,Saida R,Ogawa H,Hashimoto I,Nishikawa T: "Abesence of R42X and R635X mutations in the LAMB3 gene in 12 Japanese patients with junctional epidermolysis bullosa." Arch Dermatol Res (in press).

    • Related Report
      1996 Annual Research Report
  • [Publications] Hashimoto, T.: "Regulation of translocation of the desmoyokin/AHNAK protein to the plasma membrane in keratinocytes by protein kinase C." Experimental Cell Research. 217. 258-266 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] Amagai,M.: "Antigen-specific immunoadsorption of pathogenic autoantibodies in pemphigus foliaceus." Journal of Investigative Dermatology. 104. 895-901 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] Shimizu, H.: "Pemphigus vulgaris and pemphigus foliaceus sera show an inversely graded binding pattern to extracellular regions of desmosomes in different layers of human epidermis." Journal of Investigative Dermatology. 105. 153-159 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] Hashimoto, T.: "A case of linear IgA bullous dermatosis with IgA anti-type VII collagen autoantibodies." British Journal of Dermatology. 134. 336-339 (1996)

    • Related Report
      1995 Annual Research Report
  • [Publications] Shimizu, H.: "Molecular basis of recessive dystrophic epidermolysis bullosa: Genotype/phenotype correlation in a case of moderate clinical severity." Journal of Investigative Dermatology. 106. 119-124 (1996)

    • Related Report
      1995 Annual Research Report
  • [Publications] Shimizu, H.: "Molecular basis of recessive dystrophic epidermolysis bullosa: Genotype/phenotype correlation in a case of moderate clinical severity." Journal of Investigative Dermatology. 106. 119-124 (1996)Shimizu, H:

    • Related Report
      1995 Annual Research Report
  • [Publications] Shimizu, H: "mmunogoldsilver staining Ples, methods, and applications" CRC Press, 6 (1995)

    • Related Report
      1995 Annual Research Report

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Published: 1995-04-01   Modified: 2016-04-21  

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