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Volumn 69, Issue 1, 2011, Pages 206-211

Large genomic deletions: A novel cause of Ullrich congenital muscular dystrophy

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Indexed keywords

COLLAGEN TYPE 6;

EID: 79551493692     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.22283     Document Type: Article
Times cited : (39)

References (19)
  • 1
    • 0036378561 scopus 로고    scopus 로고
    • Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy
    • Bertini E, Pepe G., Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Eur J Paediatr Neurol 2002; 6: 193-198.
    • (2002) Eur J Paediatr Neurol , vol.6 , pp. 193-198
    • Bertini, E.1    Pepe, G.2
  • 4
    • 0024203949 scopus 로고
    • Amino acid sequence of the triple-helical domain of human collagen type VI
    • Chu ML, Conway D, Pan TC, etal. Amino acid sequence of the triple-helical domain of human collagen type VI. J Biol Chem 1988; 263: 18601-18606.
    • (1988) J Biol Chem , vol.263 , pp. 18601-18606
    • Chu, M.L.1    Conway, D.2    Pan, T.C.3
  • 5
    • 0024449634 scopus 로고
    • Sequence analysis of alpha 1(VI) and alpha 2(VI) chains of human type VI collagen reveals internal triplication of globular domains similar to the A domains of von Willebrand factor and two alpha 2(VI) chain variants that differ in the carboxy terminus
    • Chu ML, Pan TC, Conway D, etal. Sequence analysis of alpha 1(VI) and alpha 2(VI) chains of human type VI collagen reveals internal triplication of globular domains similar to the A domains of von Willebrand factor and two alpha 2(VI) chain variants that differ in the carboxy terminus. EMBO J 1989; 8: 1939-1946.
    • (1989) EMBO J , vol.8 , pp. 1939-1946
    • Chu, M.L.1    Pan, T.C.2    Conway, D.3
  • 6
    • 0025055088 scopus 로고
    • Mosaic structure of globular domains in the human type VI collagen alpha 3 chain: Similarity to von Willebrand factor, fibronectin, actin, salivary proteins and aprotinin type protease inhibitors
    • Chu ML, Zhang RZ, Pan TC, etal. Mosaic structure of globular domains in the human type VI collagen alpha 3 chain: similarity to von Willebrand factor, fibronectin, actin, salivary proteins and aprotinin type protease inhibitors. EMBO J 1990; 9: 385-393.
    • (1990) EMBO J , vol.9 , pp. 385-393
    • Chu, M.L.1    Zhang, R.Z.2    Pan, T.C.3
  • 7
    • 0028803889 scopus 로고
    • Head to tail organization of the human COL6A1 and COL6A2 genes by fiber-FISH
    • Heiskanen M, Saitta B, Palotie A, Chu ML., Head to tail organization of the human COL6A1 and COL6A2 genes by fiber-FISH. Genomics 1995; 29: 801-803.
    • (1995) Genomics , vol.29 , pp. 801-803
    • Heiskanen, M.1    Saitta, B.2    Palotie, A.3    Chu, M.L.4
  • 8
    • 0023913292 scopus 로고
    • Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen
    • Weil D, Mattei MG, Passage E, etal. Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen. Am J Hum Genet 1988; 42: 435-445.
    • (1988) Am J Hum Genet , vol.42 , pp. 435-445
    • Weil, D.1    Mattei, M.G.2    Passage, E.3
  • 9
    • 0035912809 scopus 로고    scopus 로고
    • Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI
    • Camacho Vanegas O, Bertini E, Zhang RZ, etal. Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad Sci USA 2001; 98: 7516-7521.
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 7516-7521
    • Camacho Vanegas, O.1    Bertini, E.2    Zhang, R.Z.3
  • 10
    • 0041664084 scopus 로고    scopus 로고
    • New molecular mechanism for Ullrich congenital muscular dystrophy: A heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype
    • Pan TC, Zhang RZ, Sudano DG, etal. New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. Am J Hum Genet 2003; 73: 355-369.
    • (2003) Am J Hum Genet , vol.73 , pp. 355-369
    • Pan, T.C.1    Zhang, R.Z.2    Sudano, D.G.3
  • 11
    • 0000747486 scopus 로고
    • Congenital atonic-sclerotic muscular dystrophy: An additional type of heredodegenerative disease of the neuromuscular system
    • Ullrich O., Congenital atonic-sclerotic muscular dystrophy: an additional type of heredodegenerative disease of the neuromuscular system. Z Ges Neurol Psychiat 1930; 126: 171-201.
    • (1930) Z Ges Neurol Psychiat , vol.126 , pp. 171-201
    • Ullrich, O.1
  • 12
    • 70449522888 scopus 로고    scopus 로고
    • Autosomal recessive inheritance of classic Bethlem myopathy
    • Foley AR, Hu Y, Zou Y, etal. Autosomal recessive inheritance of classic Bethlem myopathy. Neuromuscul Disord 2009; 19: 813-817.
    • (2009) Neuromuscul Disord , vol.19 , pp. 813-817
    • Foley, A.R.1    Hu, Y.2    Zou, Y.3
  • 13
    • 73349096286 scopus 로고    scopus 로고
    • Autosomal recessive Bethlem myopathy
    • Gualandi F, Urciuolo A, Martoni E, etal. Autosomal recessive Bethlem myopathy. Neurology 2009; 73: 1883-1891.
    • (2009) Neurology , vol.73 , pp. 1883-1891
    • Gualandi, F.1    Urciuolo, A.2    Martoni, E.3
  • 14
    • 0017259099 scopus 로고
    • Benign myopathy, with autosomal dominant inheritance: A report on three pedigrees
    • Bethlem J, van Wijnaarden GK., Benign myopathy, with autosomal dominant inheritance: a report on three pedigrees. Brain 1976; 99: 91-100.
    • (1976) Brain , vol.99 , pp. 91-100
    • Bethlem, J.1    Van Wijnaarden, G.K.2
  • 15
    • 18144425478 scopus 로고    scopus 로고
    • A genome-wide scalable SNP genotyping assay using microarray technology
    • Gunderson KL, Steemers FJ, Lee G, etal. A genome-wide scalable SNP genotyping assay using microarray technology. Nat Genet 2005; 37: 549-554.
    • (2005) Nat Genet , vol.37 , pp. 549-554
    • Gunderson, K.L.1    Steemers, F.J.2    Lee, G.3
  • 16
    • 69749121852 scopus 로고    scopus 로고
    • High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications
    • Shaikh TH, Gai X, Perin JC, etal. High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res 2009; 19: 1682-1690.
    • (2009) Genome Res , vol.19 , pp. 1682-1690
    • Shaikh, T.H.1    Gai, X.2    Perin, J.C.3
  • 17
    • 0033030311 scopus 로고    scopus 로고
    • A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen
    • Pepe G, Bertini E, Giusti B, etal. A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen. Neuromuscul Disord 1999; 9: 264-271.
    • (1999) Neuromuscul Disord , vol.9 , pp. 264-271
    • Pepe, G.1    Bertini, E.2    Giusti, B.3
  • 18
    • 29944447209 scopus 로고    scopus 로고
    • COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy
    • Pepe G, Lucarini L, Zhang RZ, etal. COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy. Ann Neurol 2006; 59: 190-195.
    • (2006) Ann Neurol , vol.59 , pp. 190-195
    • Pepe, G.1    Lucarini, L.2    Zhang, R.Z.3
  • 19
    • 0031832572 scopus 로고    scopus 로고
    • Reduced collagen VI causes Bethlem myopathy: A heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency
    • Lamande SR, Bateman JF, Hutchison W, etal. Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency. Hum Mol Genet 1998; 7: 981-989.
    • (1998) Hum Mol Genet , vol.7 , pp. 981-989
    • Lamande, S.R.1    Bateman, J.F.2    Hutchison, W.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.