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Volumn 12, Issue 4, 2003, Pages 518-522

Mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia

Author keywords

DNA; Ectodysplasin; Furin; Skin; Tumor necrosis factor

Indexed keywords

ECTODYSPLASIN A; ECTODYSPLASIN A RECEPTOR; FURIN; GENE PRODUCT; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; RECEPTOR; TUMOR NECROSIS FACTOR; UNCLASSIFIED DRUG;

EID: 0043065396     PISSN: 09066705     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0625.2002.120423.x     Document Type: Article
Times cited : (19)

References (25)
  • 1
    • 9344250077 scopus 로고    scopus 로고
    • X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein
    • Kere J, Srivastava A K, Montonen O, et al. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet 1996: 13: 409-416.
    • (1996) Nat Genet , vol.13 , pp. 409-416
    • Kere, J.1    Srivastava, A.K.2    Montonen, O.3
  • 2
    • 12644310324 scopus 로고    scopus 로고
    • The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains
    • Srivastava A K, Pispa J, Hartung A J, et al. The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains. Proc Natl Acad Sci U S A 1997: 94: 13069-13074.
    • (1997) Proc Natl Acad Sci U S A , vol.94 , pp. 13069-13074
    • Srivastava, A.K.1    Pispa, J.2    Hartung, A.J.3
  • 3
    • 0030833393 scopus 로고    scopus 로고
    • Cloning of Tabby, the murine homolog of the human EDA gene: Evidence for a membrane-associated protein with a short collagenous domain
    • Fergusson B M, Brockdorff N, Formstone E, Nguyen T, Kronmiller J E, Zonana J. Cloning of Tabby, the murine homolog of the human EDA gene: Evidence for a membrane-associated protein with a short collagenous domain. Hum Mol Genet 1997: 6: 1589-1594.
    • (1997) Hum Mol Genet , vol.6 , pp. 1589-1594
    • Fergusson, B.M.1    Brockdorff, N.2    Formstone, E.3    Nguyen, T.4    Kronmiller, J.E.5    Zonana, J.6
  • 4
    • 0032852542 scopus 로고    scopus 로고
    • Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cystoskeletal structures at lateral and apical sufaces of cells
    • Ezer S, Bayes M, Elomaa O, Schlessinger D, Kere J. Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cystoskeletal structures at lateral and apical sufaces of cells. Hum Mol Genet 1999: 8: 2079-2086.
    • (1999) Hum Mol Genet , vol.8 , pp. 2079-2086
    • Ezer, S.1    Bayes, M.2    Elomaa, O.3    Schlessinger, D.4    Kere, J.5
  • 5
    • 0032775933 scopus 로고    scopus 로고
    • Involvement of a novel Tnf receptor homologue in hair follicle induction
    • Headon D J, Overbeek P A. Involvement of a novel Tnf receptor homologue in hair follicle induction. Nat Genet 1999: 22: 370-374.
    • (1999) Nat Genet , vol.22 , pp. 370-374
    • Headon, D.J.1    Overbeek, P.A.2
  • 6
    • 0032811085 scopus 로고    scopus 로고
    • Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia
    • Monreal A W, Ferguson B M, Headon D J, Street S L, Overbeek P A, Zonana J. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nat Genet 1999: 22: 366-369.
    • (1999) Nat Genet , vol.22 , pp. 366-369
    • Monreal, A.W.1    Ferguson, B.M.2    Headon, D.J.3    Street, S.L.4    Overbeek, P.A.5    Zonana, J.6
  • 7
    • 0030755074 scopus 로고    scopus 로고
    • Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder
    • Munoz F, Lestringant G, Sybert V, et al. Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder. Am J Hum Genet 1997: 61: 94-100.
    • (1997) Am J Hum Genet , vol.61 , pp. 94-100
    • Munoz, F.1    Lestringant, G.2    Sybert, V.3
  • 8
    • 0035924366 scopus 로고    scopus 로고
    • Gene defect in ectodermal dysplasia implicates a death domain adapter in development
    • Headon D J, Emmal S A, Ferguson B M, et al. Gene defect in ectodermal dysplasia implicates a death domain adapter in development. Nature 2001: 414: 913-916.
    • (2001) Nature , vol.414 , pp. 913-916
    • Headon, D.J.1    Emmal, S.A.2    Ferguson, B.M.3
  • 10
    • 0035951783 scopus 로고    scopus 로고
    • The ectodermal dysplasia receptor activates the nuclear factor-κB, JNK, and cell death pathways and binds to ectodysplasin A
    • Kumar A, Eby M T, Sinha S, Jasmin A, Chaudhary P M. The ectodermal dysplasia receptor activates the nuclear factor-κB, JNK, and cell death pathways and binds to ectodysplasin A. J Biol Chem 2001: 276: 2668-2677.
    • (2001) J Biol Chem , vol.276 , pp. 2668-2677
    • Kumar, A.1    Eby, M.T.2    Sinha, S.3    Jasmin, A.4    Chaudhary, P.M.5
  • 11
    • 0031716740 scopus 로고    scopus 로고
    • The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats
    • Bayes M, Hartung A J, Ezer S, et al. The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats. Hum Mol Genet 1998: 7: 1661-1669.
    • (1998) Hum Mol Genet , vol.7 , pp. 1661-1669
    • Bayes, M.1    Hartung, A.J.2    Ezer, S.3
  • 12
    • 0032231350 scopus 로고    scopus 로고
    • Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations
    • [published erratum appears in Am J Hum Genet 1998: 63: 1253-1255]
    • Monreal A W, Zonana J, Ferguson B. Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations. Am J Hum Genet 1998: 63: 380-389 [published erratum appears in Am J Hum Genet 1998: 63: 1253-1255].
    • (1998) Am J Hum Genet , vol.63 , pp. 380-389
    • Monreal, A.W.1    Zonana, J.2    Ferguson, B.3
  • 13
    • 0031980020 scopus 로고    scopus 로고
    • Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: Diagnostic implications
    • Ferguson B M, Thomas N S T, Munoz F, Morgan D, Clarke A, Zonana J. Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: Diagnostic implications. J Med Genet 1998: 35: 112-115.
    • (1998) J Med Genet , vol.35 , pp. 112-115
    • Ferguson, B.M.1    Thomas, N.S.T.2    Munoz, F.3    Morgan, D.4    Clarke, A.5    Zonana, J.6
  • 14
    • 0035320883 scopus 로고    scopus 로고
    • The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia
    • Paakkonen K, Cambiaghi S, Novelli G, et al. The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia. Hum Mutat 2001: 17: 349-353.
    • (2001) Hum Mutat , vol.17 , pp. 349-353
    • Paakkonen, K.1    Cambiaghi, S.2    Novelli, G.3
  • 15
    • 0031892339 scopus 로고    scopus 로고
    • A novel missense mutation (402C→T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia
    • Hertz J M, Hansen K N, Juncker I, Kjeldsen M, Gregersen N. A novel missense mutation (402C→T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia. Clin Genet 1998: 53: 205-209.
    • (1998) Clin Genet , vol.53 , pp. 205-209
    • Hertz, J.M.1    Hansen, K.N.2    Juncker, I.3    Kjeldsen, M.4    Gregersen, N.5
  • 16
    • 0031605074 scopus 로고    scopus 로고
    • Mutation in the regulatory region of the EDA gene coincides with the symptoms of anhidrotic ectodermal dysplasia
    • Kobielak K, Kobielak A, Limon J, Trzeciak Wh. Mutation in the regulatory region of the EDA gene coincides with the symptoms of anhidrotic ectodermal dysplasia. Acta Biochim Pol 1998: 45: 245-250.
    • (1998) Acta Biochim Pol , vol.45 , pp. 245-250
    • Kobielak, K.1    Kobielak, A.2    Limon, J.3    Trzeciak, Wh.4
  • 17
    • 0035341488 scopus 로고    scopus 로고
    • Mutations in the EDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X-linked anhidrotic ectodermal dysplasia
    • Kobielak K, Kobielak A, Roszkiewicz J, Wierzba J, Limon J, Trzeciak Wh. Mutations in the EDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X-linked anhidrotic ectodermal dysplasia. Am J Med Genet 2001: 100: 191-197.
    • (2001) Am J Med Genet , vol.100 , pp. 191-197
    • Kobielak, K.1    Kobielak, A.2    Roszkiewicz, J.3    Wierzba, J.4    Limon, J.5    Trzeciak, Wh.6
  • 18
    • 0033506530 scopus 로고    scopus 로고
    • X-linked anhidrotic (hypohidrotic) ectodermal dysplasia caused by a novel mutation in EDA1 gene: 406T>G (Leu55Arg)
    • Martinez F, Millan J M, Orellana C, Prieto F. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia caused by a novel mutation in EDA1 gene: 406T>G (Leu55Arg). J Invest Dermatol 1999: 113: 285-286.
    • (1999) J Invest Dermatol , vol.113 , pp. 285-286
    • Martinez, F.1    Millan, J.M.2    Orellana, C.3    Prieto, F.4
  • 19
    • 0034981134 scopus 로고    scopus 로고
    • Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia
    • Vincent MC, Biancalana V, Ginisty D, Mandel J L, Calvas P. Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia. Eur J Hum Genet 2001: 9: 355-363.
    • (2001) Eur J Hum Genet , vol.9 , pp. 355-363
    • Vincent, M.C.1    Biancalana, V.2    Ginisty, D.3    Mandel, J.L.4    Calvas, P.5
  • 20
    • 0035379554 scopus 로고    scopus 로고
    • Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A
    • Schneider P, Street S L, Gaide O, et al. Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A. J Biol Chem 2001: 276: 18819-18827.
    • (2001) J Biol Chem , vol.276 , pp. 18819-18827
    • Schneider, P.1    Street, S.L.2    Gaide, O.3
  • 21
    • 0032457229 scopus 로고    scopus 로고
    • A novel point mutation of the EDA gene in a Japanese family with anhidrotic ectodermal dysplasia
    • Yotsumoto S, Fukumaru S, Matsushita S, et al. A novel point mutation of the EDA gene in a Japanese family with anhidrotic ectodermal dysplasia. J Invest Dermatol 1998: 111: 1246-1247.
    • (1998) J Invest Dermatol , vol.111 , pp. 1246-1247
    • Yotsumoto, S.1    Fukumaru, S.2    Matsushita, S.3
  • 22
    • 0033624559 scopus 로고    scopus 로고
    • A novel arginine→serine mutation in EDA1 in a Japanese family with X-linked anhidrotic ectodermal dysplasia
    • Aoki N, Ito K, Tachibana T, Ito M. A novel arginine→serine mutation in EDA1 in a Japanese family with X-linked anhidrotic ectodermal dysplasia. J Invest Dermatol 2000: 115: 329-330.
    • (2000) J Invest Dermatol , vol.115 , pp. 329-330
    • Aoki, N.1    Ito, K.2    Tachibana, T.3    Ito, M.4
  • 23
    • 0028127041 scopus 로고
    • Ectodermal dysplasias: A clinical classification and a causal review
    • Pinheiro M, Freire-Maia N. Ectodermal dysplasias: A clinical classification and a causal review. Am J Med Genet 1994: 53: 153-162.
    • (1994) Am J Med Genet , vol.53 , pp. 153-162
    • Pinheiro, M.1    Freire-Maia, N.2
  • 24
    • 0035912849 scopus 로고    scopus 로고
    • Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia
    • Chen Y, Molloy S S, Thomas L, et al. Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia. Proc Natl Acad Sci USA 2001: 98: 7218-7223.
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 7218-7223
    • Chen, Y.1    Molloy, S.S.2    Thomas, L.3
  • 25
    • 0030725756 scopus 로고    scopus 로고
    • Furin: A mammalian subtilisin/Kex2p-like endoprotease involved in processing of a wide variety of precursor proteins
    • Nakayama K. Furin: A mammalian subtilisin/Kex2p-like endoprotease involved in processing of a wide variety of precursor proteins. Biochem J 1997: 327: 625-635.
    • (1997) Biochem J , vol.327 , pp. 625-635
    • Nakayama, K.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.