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Volumn 80, Issue 1, 1998, Pages 32-41

Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy?

Author keywords

Cognitive impairment; Deletions; Dp140; Dp71; Duchenne muscular dystrophy (DMD); Duplications

Indexed keywords

ARTICLE; CLINICAL ARTICLE; DISEASE ASSOCIATION; DNA SEQUENCE; DUCHENNE MUSCULAR DYSTROPHY; GENE DELETION; GENE SEQUENCE; GENETIC LINKAGE; HUMAN; MENTAL DEFICIENCY; PRIORITY JOURNAL; PROMOTER REGION;

EID: 0031666477     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19981102)80:1<32::AID-AJMG6>3.0.CO;2-Y     Document Type: Article
Times cited : (106)

References (37)
  • 1
    • 0025244924 scopus 로고
    • Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
    • Beggs AH, Koenig M, Boyce FM, Kunkel LM (1990): Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 86:45-48.
    • (1990) Hum Genet , vol.86 , pp. 45-48
    • Beggs, A.H.1    Koenig, M.2    Boyce, F.M.3    Kunkel, L.M.4
  • 4
    • 0026013330 scopus 로고
    • Dystrophin is transcribed in brain from a distant upstream promoter
    • Boyce FM, Beggs AH, Feener C, Kunkel LM (1991): Dystrophin is transcribed in brain from a distant upstream promoter. Proc Natl Acad Sci USA 88:1276-1280.
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 1276-1280
    • Boyce, F.M.1    Beggs, A.H.2    Feener, C.3    Kunkel, L.M.4
  • 7
    • 0024245082 scopus 로고
    • Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
    • Chamberlain JS, Gibbs RA, Ranvier JE, Nguyen PN, Caskey CT (1988): Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 16:11141-11156.
    • (1988) Nucleic Acids Res , vol.16 , pp. 11141-11156
    • Chamberlain, J.S.1    Gibbs, R.A.2    Ranvier, J.E.3    Nguyen, P.N.4    Caskey, C.T.5
  • 8
    • 0023277545 scopus 로고
    • Single-step method of RNA isolation by acid guanidium thiocyanate-phenol-chloroform extraction
    • Chomczynski P, Sacchi N (1987): Single-step method of RNA isolation by acid guanidium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156-159.
    • (1987) Anal Biochem , vol.162 , pp. 156-159
    • Chomczynski, P.1    Sacchi, N.2
  • 10
    • 0025738298 scopus 로고
    • Genotype-phenotype correlation and germline mosaicism in DMD/BMD patients with deletions of the dystrophin gene
    • Covone AE, Lerone M, Romeo G (1991): Genotype-phenotype correlation and germline mosaicism in DMD/BMD patients with deletions of the dystrophin gene. Hum Genet 87:353-360.
    • (1991) Hum Genet , vol.87 , pp. 353-360
    • Covone, A.E.1    Lerone, M.2    Romeo, G.3
  • 14
  • 15
    • 0028941158 scopus 로고
    • Specific expression of G-dystrophin (Dp71) in the brain
    • Gorecki DC, Barnard E (1995): Specific expression of G-dystrophin (Dp71) in the brain. Neuroreport 6:893-896.
    • (1995) Neuroreport , vol.6 , pp. 893-896
    • Gorecki, D.C.1    Barnard, E.2
  • 16
    • 0027052612 scopus 로고
    • Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy, with special reference to mental ability
    • Hodgson SV, Abbs S, Clark S, Manzur A, Heckmatt JZH, Dubowitz V, Bobrow M (1992): Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy, with special reference to mental ability. Neuromusc Disord 2:269-276.
    • (1992) Neuromusc Disord , vol.2 , pp. 269-276
    • Hodgson, S.V.1    Abbs, S.2    Clark, S.3    Manzur, A.4    Heckmatt, J.Z.H.5    Dubowitz, V.6    Bobrow, M.7
  • 19
    • 0027739691 scopus 로고
    • Characterization and subcellular localization of the dystrophin-protein 71 (Dp71) from the brain
    • Jung D, Filliol D, Metz-Boutigue MH, Rendon A (1993): Characterization and subcellular localization of the dystrophin-protein 71 (Dp71) from the brain. Neuromusc Disord 3:515-518.
    • (1993) Neuromusc Disord , vol.3 , pp. 515-518
    • Jung, D.1    Filliol, D.2    Metz-Boutigue, M.H.3    Rendon, A.4
  • 20
    • 0023614271 scopus 로고
    • Complete cloning of the Duchenne Muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
    • Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM (1987): Complete cloning of the Duchenne Muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50:509-517.
    • (1987) Cell , vol.50 , pp. 509-517
    • Koenig, M.1    Hoffman, E.P.2    Bertelson, C.J.3    Monaco, A.P.4    Feener, C.5    Kunkel, L.M.6
  • 21
    • 0023904860 scopus 로고
    • The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein
    • Koenig M, Monaco AP, Kunkel M (1988): The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 53:219-228.
    • (1988) Cell , vol.53 , pp. 219-228
    • Koenig, M.1    Monaco, A.P.2    Kunkel, M.3
  • 23
    • 4244116604 scopus 로고
    • Du diagnostic de la dyslexie à l'étude clinique de la lecture. Un nouvel instrument: Le test de l'Alouette
    • Lefavrais P (1963): Du diagnostic de la dyslexie à l'étude clinique de la lecture. Un nouvel instrument: Le test de l'Alouette. Revue de Psychologie Appliquée 13:189-207.
    • (1963) Revue de Psychologie Appliquée , vol.13 , pp. 189-207
    • Lefavrais, P.1
  • 24
    • 0027484533 scopus 로고
    • Point mutations at the carboxy terminus of the human dystrophin gene: Implications for an association with mental retardation in DMD patients
    • Lenk U, Hanke R, Thiele H, Speer A (1993): Point mutations at the carboxy terminus of the human dystrophin gene: Implications for an association with mental retardation in DMD patients. Hum Mol Genet 2: 1877-1881.
    • (1993) Hum Mol Genet , vol.2 , pp. 1877-1881
    • Lenk, U.1    Hanke, R.2    Thiele, H.3    Speer, A.4
  • 25
    • 0030016360 scopus 로고    scopus 로고
    • A cystein 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave
    • Lenk U, Oexle K, Voit T, Ancker U, Hellner KA, Speer A, Hübner C (1996): A cystein 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave. Hum Mol Genet 5:973-975.
    • (1996) Hum Mol Genet , vol.5 , pp. 973-975
    • Lenk, U.1    Oexle, K.2    Voit, T.3    Ancker, U.4    Hellner, K.A.5    Speer, A.6    Hübner, C.7
  • 26
    • 0025648083 scopus 로고
    • Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons
    • Lidov HGW, Byers J, Watkins SC, Kunkel LM (1990): Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons. Nature 348:725-727.
    • (1990) Nature , vol.348 , pp. 725-727
    • Lidov, H.G.W.1    Byers, J.2    Watkins, S.C.3    Kunkel, L.M.4
  • 27
    • 0028937525 scopus 로고
    • Dp140: A novel 140 kDa CNS transcript from the dystrophin locus
    • Lidov HGW, Selig S, Kunkel LM (1995): Dp140: A novel 140 kDa CNS transcript from the dystrophin locus. Hum Mol Genet 4:329-335.
    • (1995) Hum Mol Genet , vol.4 , pp. 329-335
    • Lidov, H.G.W.1    Selig, S.2    Kunkel, L.M.3
  • 30
    • 0026338937 scopus 로고
    • Apparent association of mental retardation and specific patterns of deletions screened with probes cf56a and cf23a in Duchenne muscular dystrophy
    • Rapaport D, Passos-Bueno MR, Brandao L, Love D, Vainzof M, Zatz M (1991): Apparent association of mental retardation and specific patterns of deletions screened with probes cf56a and cf23a in Duchenne muscular dystrophy. Am J Med Genet 39:437-441.
    • (1991) Am J Med Genet , vol.39 , pp. 437-441
    • Rapaport, D.1    Passos-Bueno, M.R.2    Brandao, L.3    Love, D.4    Vainzof, M.5    Zatz, M.6
  • 33
    • 0028303798 scopus 로고
    • Searching for the 1 in 2,400,000: A review of dystrophin gene point mutations
    • Roberts RG, Gardner R, Bobrow M (1994): Searching for the 1 in 2,400,000: A review of dystrophin gene point mutations. Hum Mutat 4:1-11.
    • (1994) Hum Mutat , vol.4 , pp. 1-11
    • Roberts, R.G.1    Gardner, R.2    Bobrow, M.3
  • 35
    • 0027071665 scopus 로고
    • Prediction of dystrophin phenotype by DNA analysis in Duchenne/Becker muscular dystrophy
    • Specht LA, Beggs AH, Korf B, Kunkel LM, Shapiro F (1992): Prediction of dystrophin phenotype by DNA analysis in Duchenne/Becker muscular dystrophy. Pediatr Neurol 8:432-436.
    • (1992) Pediatr Neurol , vol.8 , pp. 432-436
    • Specht, L.A.1    Beggs, A.H.2    Korf, B.3    Kunkel, L.M.4    Shapiro, F.5
  • 36
    • 0029144051 scopus 로고
    • Protein truncation test: Analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation
    • Tuffery S, Lenk U, Roberts RG, Coubes C, Demaille J, Claustres M (1995): Protein truncation test: Analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation. Hum Mutat 6:126-135.
    • (1995) Hum Mutat , vol.6 , pp. 126-135
    • Tuffery, S.1    Lenk, U.2    Roberts, R.G.3    Coubes, C.4    Demaille, J.5    Claustres, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.