메뉴 건너뛰기




Volumn 116, Issue 2, 2007, Pages 107-116

Hybridization analysis of D4Z4 repeat arrays linked to FSHD

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL CELL; ARTICLE; CHROMOSOME 10Q; CHROMOSOME 4; CHROMOSOME 4Q; CHROMOSOME TRANSLOCATION; CONTROLLED STUDY; CROSS HYBRIDIZATION; DNA HYBRIDIZATION; DNA MICROARRAY; DNA PROBE; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE SEQUENCE; HUMAN; HUMAN CELL; MALE; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PULSED ELECTRIC FIELD; PULSED FIELD GEL ELECTROPHORESIS; SEQUENCE HOMOLOGY; STRUCTURAL CHROMOSOME ABERRATION; TANDEM REPEAT;

EID: 33947098405     PISSN: 00095915     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00412-006-0080-6     Document Type: Article
Times cited : (20)

References (33)
  • 1
    • 0041379846 scopus 로고    scopus 로고
    • Facioscapulohumeral muscular dystrophy. Phenotype-genotype correlation in patients with borderline D4Z4 repeat numbers
    • Butz M, Koch MC, Muller-Felber W, Lemmers RJ, van der Maarel SM, Schreiber H (2003) Facioscapulohumeral muscular dystrophy. Phenotype-genotype correlation in patients with borderline D4Z4 repeat numbers. J Neurol 250:932-937
    • (2003) J Neurol , vol.250 , pp. 932-937
    • Butz, M.1    Koch, M.C.2    Muller-Felber, W.3    Lemmers, R.J.4    van der Maarel, S.M.5    Schreiber, H.6
  • 2
    • 0029913030 scopus 로고    scopus 로고
    • Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD)
    • Deidda G, Cacurri S, Piazzo N, Felicetti L (1996) Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD). J Med Genet 33:361-365
    • (1996) J Med Genet , vol.33 , pp. 361-365
    • Deidda, G.1    Cacurri, S.2    Piazzo, N.3    Felicetti, L.4
  • 3
    • 3042576275 scopus 로고    scopus 로고
    • Exploring hypotheses about the molecular etiology of FSHD: Loss of heterochromatin spreading and other long-range interaction models
    • In: Cooper DN, Upadhyaya M (eds) BIOS Scientific Publishers, New York, NY
    • Ehrlich M (2004) Exploring hypotheses about the molecular etiology of FSHD: Loss of heterochromatin spreading and other long-range interaction models. In: Cooper DN, Upadhyaya M (eds) FSHD facioscapulohumeral muscular dystrophy: Molecular cell biology and clinical medicine. BIOS Scientific Publishers, New York, NY, pp 253-276
    • (2004) FSHD Facioscapulohumeral Muscular Dystrophy: Molecular Cell Biology and Clinical Medicine , pp. 253-276
    • Ehrlich, M.1
  • 4
    • 0037047439 scopus 로고    scopus 로고
    • Inappropriate gene activation in FSHD: A repressor complex binds a chromosomal repeat deleted in dystrophic muscle
    • Gabellini D, Green MR, Tupler R (2002) Inappropriate gene activation in FSHD: A repressor complex binds a chromosomal repeat deleted in dystrophic muscle. Cell 110:339-348
    • (2002) Cell , vol.110 , pp. 339-348
    • Gabellini, D.1    Green, M.R.2    Tupler, R.3
  • 5
    • 33645971656 scopus 로고    scopus 로고
    • Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy
    • Goto K, Nishino I, Hayashi YK (2006) Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy. Neuromuscul Disord 16:256-261
    • (2006) Neuromuscul Disord , vol.16 , pp. 256-261
    • Goto, K.1    Nishino, I.2    Hayashi, Y.K.3
  • 7
    • 0345227304 scopus 로고    scopus 로고
    • Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q
    • Jiang G, Yang F, Van Overveld PG, Vedanarayanan V, Van Der Maarel S, Ehrlich M (2003) Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q. Hum Mol Genet 12:2909-2921
    • (2003) Hum Mol Genet , vol.12 , pp. 2909-2921
    • Jiang, G.1    Yang, F.2    Van Overveld, P.G.3    Vedanarayanan, V.4    Van Der Maarel, S.5    Ehrlich, M.6
  • 15
    • 2542606540 scopus 로고    scopus 로고
    • Facioscapulohumeral muscular dystrophy: Diagnostic and molecular aspects
    • In: Deymeer F (ed) Monogr Clin Neurosci (Karger, Basel)
    • Lunt P (2000) Facioscapulohumeral muscular dystrophy: Diagnostic and molecular aspects. In: Deymeer F Fed) Neuromuscular diseases: from basic mechanisms to clinical management, vol 18. Monogr Clin Neurosci (Karger, Basel) pp 44-60
    • (2000) Neuromuscular Diseases: From Basic Mechanisms to Clinical Management , vol.18 , pp. 44-60
    • Lunt, P.1
  • 16
    • 0029038951 scopus 로고
    • Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)
    • Lunt PW, Jardine PE, Koch MC, Maynard J, Osborn M, Williams M, Harper PS, Upadhyaya M (1995) Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD). Hum Mol Genet 4:951-958
    • (1995) Hum Mol Genet , vol.4 , pp. 951-958
    • Lunt, P.W.1    Jardine, P.E.2    Koch, M.C.3    Maynard, J.4    Osborn, M.5    Williams, M.6    Harper, P.S.7    Upadhyaya, M.8
  • 17
    • 0029113034 scopus 로고
    • The FSHD-associated repeat, D4Z4, is a member of a dispersed family of homeobox-containing repeats, subsets of which are clustered on the short arms of the acrocentric chromosomes
    • Lyle R, Wright TJ, Clark LN, Hewitt JE (1995) The FSHD-associated repeat, D4Z4, is a member of a dispersed family of homeobox-containing repeats, subsets of which are clustered on the short arms of the acrocentric chromosomes. Genomics 28:389-397
    • (1995) Genomics , vol.28 , pp. 389-397
    • Lyle, R.1    Wright, T.J.2    Clark, L.N.3    Hewitt, J.E.4
  • 18
  • 20
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 23
    • 0035201141 scopus 로고    scopus 로고
    • Hypermethylation of the FSHD syndrome-linked subtelomeric repeat in normal and FSHD cells but not in ICF syndrome cells
    • Tsien F, Sun B, Hopkins NE, Vedanarayanan V, Figlewicz D, Winokur S, Ehrlich M (2001) Hypermethylation of the FSHD syndrome-linked subtelomeric repeat in normal and FSHD cells but not in ICF syndrome cells. Mol Genet Metab 74:322-331
    • (2001) Mol Genet Metab , vol.74 , pp. 322-331
    • Tsien, F.1    Sun, B.2    Hopkins, N.E.3    Vedanarayanan, V.4    Figlewicz, D.5    Winokur, S.6    Ehrlich, M.7
  • 24
    • 0030909143 scopus 로고    scopus 로고
    • Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): Validation of the differential double digestion for FSHD
    • Upadhyaya M, Maynard J, Rogers MT, Lunt PW, Jardine P, Ravine D, Harper PS (1997) Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): Validation of the differential double digestion for FSHD. J Med Genet 34:476-479
    • (1997) J Med Genet , vol.34 , pp. 476-479
    • Upadhyaya, M.1    Maynard, J.2    Rogers, M.T.3    Lunt, P.W.4    Jardine, P.5    Ravine, D.6    Harper, P.S.7
  • 25
    • 0029827344 scopus 로고    scopus 로고
    • Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: Implications for genetic counselling and etiology of FSHD1
    • van Deutekom JC, Bakker E, Lemmers RJ, van der Wielen MJ, Bik E, Hofker MH, Padberg GW, Frants RR (1996) Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1. Hum Mol Genet 5:1997-2003
    • (1996) Hum Mol Genet , vol.5 , pp. 1997-2003
    • van Deutekom, J.C.1    Bakker, E.2    Lemmers, R.J.3    van der Wielen, M.J.4    Bik, E.5    Hofker, M.H.6    Padberg, G.W.7    Frants, R.R.8
  • 29
    • 0028303398 scopus 로고
    • The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: Implications for a role of chromatin structure in the pathogenesis of the disease
    • Winokur ST, Bengtsson U, Feddersen J, Mathews KD, Weiffenbach B, Bailey H, Markovich RP, Murray JC, Wasmuth JJ, Altherr MR, Schutte BC (1994) The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease. Chromosome Res 2:225-234
    • (1994) Chromosome Res , vol.2 , pp. 225-234
    • Winokur, S.T.1    Bengtsson, U.2    Feddersen, J.3    Mathews, K.D.4    Weiffenbach, B.5    Bailey, H.6    Markovich, R.P.7    Murray, J.C.8    Wasmuth, J.J.9    Altherr, M.R.10    Schutte, B.C.11
  • 31
    • 0027486339 scopus 로고
    • Fine mapping of the FSHD gene region orientates the rearranged fragment detected by the probe p13E-11
    • Wright TJ, Wijmenga C, Clark LN, Frants RR, Williamson R, Hewitt JE (1993) Fine mapping of the FSHD gene region orientates the rearranged fragment detected by the probe p13E-11. Hum Mol Genet 2:1673-1678
    • (1993) Hum Mol Genet , vol.2 , pp. 1673-1678
    • Wright, T.J.1    Wijmenga, C.2    Clark, L.N.3    Frants, R.R.4    Williamson, R.5    Hewitt, J.E.6
  • 32
    • 3543137156 scopus 로고    scopus 로고
    • FSHD in Chinese population: Characteristics of translocation and genotype-phenotype correlation
    • Wu ZY, Wang ZQ, Murong SX, Wang N (2004) FSHD in Chinese population: characteristics of translocation and genotype-phenotype correlation. Neurology 63:581-583
    • (2004) Neurology , vol.63 , pp. 581-583
    • Wu, Z.Y.1    Wang, Z.Q.2    Murong, S.X.3    Wang, N.4
  • 33
    • 0023618208 scopus 로고
    • Hypermethylation of human DNA sequences in embryonal carcinoma cells and somatic tissues but not in sperm
    • Zhang XY, Loflin PT, Gehrke CW, Andrews PA, Ehrlich M (1987) Hypermethylation of human DNA sequences in embryonal carcinoma cells and somatic tissues but not in sperm. Nucleic Acids Res. 15:9429-9449
    • (1987) Nucleic Acids Res. , vol.15 , pp. 9429-9449
    • Zhang, X.Y.1    Loflin, P.T.2    Gehrke, C.W.3    Andrews, P.A.4    Ehrlich, M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.