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Volumn 158, Issue 3, 2008, Pages 483-486

Analysis of the VCX3A, VCX2 and VCX3B genes shows that VCX3A gene deletion is not sufficient to result in mental retardation in X-linked ichthyosis

Author keywords

Mental retardation; Steroid sulphatase; STS gene; VCX3A gene; X linked ichthyosis

Indexed keywords

DNA; STERYL SULFATASE;

EID: 39049156843     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2007.08373.x     Document Type: Article
Times cited : (38)

References (24)
  • 1
    • 0024802646 scopus 로고
    • Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome
    • Ballabio A, Bardoni B, Carrozzo R et al. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc Natl Acad Sci USA 1989 86 : 10001 5.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 10001-5
    • Ballabio, A.1    Bardoni, B.2    Carrozzo, R.3
  • 2
    • 0026021152 scopus 로고
    • Human placental sterylsulfatase. Interaction of the isolated enzyme with substrates, products, transition-state analogues, amino-acid modifiers and anion transport inhibitors
    • Dibbelt L, Kuss E. Human placental sterylsulfatase. Interaction of the isolated enzyme with substrates, products, transition-state analogues, amino-acid modifiers and anion transport inhibitors. Biol Chem Hoppe Seyler 1991 372 : 173 85.
    • (1991) Biol Chem Hoppe Seyler , vol.372 , pp. 173-85
    • Dibbelt, L.1    Kuss, E.2
  • 3
    • 17044428337 scopus 로고    scopus 로고
    • Steroid sulfatase: Molecular biology, regulation, and inhibition
    • Reed MJ, Purohit A, Woo LW et al. Steroid sulfatase: molecular biology, regulation, and inhibition. Endocr Rev 2005 26 : 171 202.
    • (2005) Endocr Rev , vol.26 , pp. 171-202
    • Reed, M.J.1    Purohit, A.2    Woo, L.W.3
  • 4
    • 84919585371 scopus 로고
    • X-linked ichthyosis due to steroid-sulphatase deficiency
    • Webster D, France JT, Shapiro LJ, Weiss R. X-linked ichthyosis due to steroid-sulphatase deficiency. Lancet 1978 i : 70 2.
    • (1978) Lancet , vol.1 , pp. 70-2
    • Webster, D.1    France, J.T.2    Shapiro, L.J.3    Weiss, R.4
  • 5
    • 0033843150 scopus 로고    scopus 로고
    • A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation
    • Fukami M, Kirsch S, Schiller S et al. A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation. Am J Hum Genet 2000 67 : 563 73.
    • (2000) Am J Hum Genet , vol.67 , pp. 563-73
    • Fukami, M.1    Kirsch, S.2    Schiller, S.3
  • 6
    • 15844427598 scopus 로고    scopus 로고
    • Xp22.3 microdeletion including VCX-A and VCX-B1 genes in an X-linked ichthyosis family: No difference in deletion size for patients with and without mental retardation
    • Lesca G, Sinilnikova O, Theuil G et al. Xp22.3 microdeletion including VCX-A and VCX-B1 genes in an X-linked ichthyosis family: no difference in deletion size for patients with and without mental retardation. Clin Genet 2005 67 : 367 8.
    • (2005) Clin Genet , vol.67 , pp. 367-8
    • Lesca, G.1    Sinilnikova, O.2    Theuil, G.3
  • 7
    • 33751541451 scopus 로고    scopus 로고
    • Identification of an mRNA-decapping regulator implicated in X-linked mental retardation
    • Jiao X, Wang Z, Kiledjian M. Identification of an mRNA-decapping regulator implicated in X-linked mental retardation. Mol Cell 2006 24 : 713 22.
    • (2006) Mol Cell , vol.24 , pp. 713-22
    • Jiao, X.1    Wang, Z.2    Kiledjian, M.3
  • 8
    • 0009462761 scopus 로고
    • Molecular studies of deletions at the human steroid sulfatase locus
    • Shapiro LJ, Yen P, Pomerantz D et al. Molecular studies of deletions at the human steroid sulfatase locus. Proc Natl Acad Sci USA 1989 86 : 8477 81.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 8477-81
    • Shapiro, L.J.1    Yen, P.2    Pomerantz, D.3
  • 9
    • 0024527636 scopus 로고
    • Molecular heterogeneity of steroid sulfatase deficiency: A multicenter study on 57 unrelated patients, at DNA and protein levels
    • Ballabio A, Carrozzo R, Parenti G et al. Molecular heterogeneity of steroid sulfatase deficiency: a multicenter study on 57 unrelated patients, at DNA and protein levels. Genomics 1989 4 : 36 40.
    • (1989) Genomics , vol.4 , pp. 36-40
    • Ballabio, A.1    Carrozzo, R.2    Parenti, G.3
  • 10
    • 0035717589 scopus 로고    scopus 로고
    • Deletion pattern of the STS gene in X-linked ichthyosis in a Mexican population
    • Jimenez Vaca AL, Valdes-Flores M, Rivera-Vega MR et al. Deletion pattern of the STS gene in X-linked ichthyosis in a Mexican population. Mol Med 2001 7 : 845 9.
    • (2001) Mol Med , vol.7 , pp. 845-9
    • Jimenez Vaca, A.L.1    Valdes-Flores, M.2    Rivera-Vega, M.R.3
  • 11
    • 0031819644 scopus 로고    scopus 로고
    • Deletion pattern of the steroid sulphatase gene in Japanese patients with X-linked ichthyosis
    • Saeki H, Kuwata S, Nakagawa H et al. Deletion pattern of the steroid sulphatase gene in Japanese patients with X-linked ichthyosis. Br J Dermatol 1998 139 : 96 8.
    • (1998) Br J Dermatol , vol.139 , pp. 96-8
    • Saeki, H.1    Kuwata, S.2    Nakagawa, H.3
  • 12
    • 0033995677 scopus 로고    scopus 로고
    • Deletion patterns of the STS gene and flanking sequences in Israeli X-linked ichthyosis patients and carriers: Analysis by polymerase chain reaction and fluorescence in situ hybridization techniques
    • Aviram-Goldring A, Goldman B, Netanelov-Shapira I et al. Deletion patterns of the STS gene and flanking sequences in Israeli X-linked ichthyosis patients and carriers: analysis by polymerase chain reaction and fluorescence in situ hybridization techniques. Int J Dermatol 2000 39 : 182 7.
    • (2000) Int J Dermatol , vol.39 , pp. 182-7
    • Aviram-Goldring, A.1    Goldman, B.2    Netanelov-Shapira, I.3
  • 13
    • 0025220144 scopus 로고
    • Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification
    • Ballabio A, Ranier JE, Chamberlain JS et al. Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification. Hum Genet 1990 84 : 571 2.
    • (1990) Hum Genet , vol.84 , pp. 571-2
    • Ballabio, A.1    Ranier, J.E.2    Chamberlain, J.S.3
  • 14
    • 0027291742 scopus 로고
    • A high resolution deletion map of human chromosome Xp22
    • Schaefer L, Ferrero GB, Grillo A et al. A high resolution deletion map of human chromosome Xp22. Nat Genet 1993 4 : 272 9.
    • (1993) Nat Genet , vol.4 , pp. 272-9
    • Schaefer, L.1    Ferrero, G.B.2    Grillo, A.3
  • 16
    • 23944517115 scopus 로고    scopus 로고
    • Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis
    • van Esch H, Hollanders K, Badisco L et al. Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis. Hum Mol Genet 2005 14 : 1795 803.
    • (2005) Hum Mol Genet , vol.14 , pp. 1795-803
    • Van Esch, H.1    Hollanders, K.2    Badisco, L.3
  • 17
    • 0024532110 scopus 로고
    • An extremely polymorphic locus on the short arm of the human X chromosome with homology to the long arm of the Y chromosome
    • Knowlton RG, Nelson CA, Brown VA et al. An extremely polymorphic locus on the short arm of the human X chromosome with homology to the long arm of the Y chromosome. Nucleic Acids Res 1989 17 : 423 37.
    • (1989) Nucleic Acids Res , vol.17 , pp. 423-37
    • Knowlton, R.G.1    Nelson, C.A.2    Brown, V.A.3
  • 18
    • 0026548122 scopus 로고
    • Characterization of a low copy repetitive element S232 involved in the generation of frequent deletions of the distal short arm of the human X chromosome
    • Li XM, Yen PH, Shapiro LJ. Characterization of a low copy repetitive element S232 involved in the generation of frequent deletions of the distal short arm of the human X chromosome. Nucleic Acids Res 1992 20 : 1117 22.
    • (1992) Nucleic Acids Res , vol.20 , pp. 1117-22
    • Li, X.M.1    Yen, P.H.2    Shapiro, L.J.3
  • 19
    • 33845710459 scopus 로고    scopus 로고
    • Deletion of distal promoter of VCXA in a patient with X-linked ichthyosis associated with borderline mental retardation
    • Hosomi N, Oiso N, Fukai K et al. Deletion of distal promoter of VCXA in a patient with X-linked ichthyosis associated with borderline mental retardation. J Dermatol Sci 2007 45 : 31 6.
    • (2007) J Dermatol Sci , vol.45 , pp. 31-6
    • Hosomi, N.1    Oiso, N.2    Fukai, K.3
  • 20
    • 0034944769 scopus 로고    scopus 로고
    • Absence of learning difficulties in a hyperactive boy with a terminal Xp deletion encompassing the MRX49 locus
    • Tobias ES, Bryce G, Farmer G et al. Absence of learning difficulties in a hyperactive boy with a terminal Xp deletion encompassing the MRX49 locus. J Med Genet 2001 38 : 466 70.
    • (2001) J Med Genet , vol.38 , pp. 466-70
    • Tobias, E.S.1    Bryce, G.2    Farmer, G.3
  • 21
    • 0347364702 scopus 로고    scopus 로고
    • An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits
    • Doherty MJ, Glas IA, Bennet CL et al. An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits. Epilepsia 2003 44 : 1529 35.
    • (2003) Epilepsia , vol.44 , pp. 1529-35
    • Doherty, M.J.1    Glas, I.A.2    Bennet, C.L.3
  • 22
    • 0033978639 scopus 로고    scopus 로고
    • A human sex-chromosomal gene family expressed in male germ cells and encoding variably charged proteins
    • Lahn BT, Page DC. A human sex-chromosomal gene family expressed in male germ cells and encoding variably charged proteins. Hum Mol Genet 2000 9 : 311 19.
    • (2000) Hum Mol Genet , vol.9 , pp. 311-19
    • Lahn, B.T.1    Page, D.C.2
  • 23
    • 0037656313 scopus 로고    scopus 로고
    • Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
    • Jamain S, Quach H, Betancur C et al. Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet 2003 34 : 27 9.
    • (2003) Nat Genet , vol.34 , pp. 27-9
    • Jamain, S.1    Quach, H.2    Betancur, C.3
  • 24
    • 12144291350 scopus 로고    scopus 로고
    • X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family
    • Laumonnier F, Bonnet-Brilhault F, Gomot M et al. X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am J Hum Genet 2004 74 : 552 7.
    • (2004) Am J Hum Genet , vol.74 , pp. 552-7
    • Laumonnier, F.1    Bonnet-Brilhault, F.2    Gomot, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.