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Volumn 386, Issue 6627, 1997, Pages 847-851

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy

Author keywords

[No Author keywords available]

Indexed keywords

CYSTATIN;

EID: 0030964106     PISSN: 00280836     EISSN: None     Source Type: Journal    
DOI: 10.1038/386847a0     Document Type: Article
Times cited : (297)

References (30)
  • 1
    • 0018428007 scopus 로고
    • Progressive myoclonus epilepsy: Genetic and nosological aspects with special reference to 107 Finnish patients
    • Norio, R. & Koskiniemi, M. Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients. Clin. Genet. 15, 82-398 (1979).
    • (1979) Clin. Genet. , vol.15 , pp. 82-398
    • Norio, R.1    Koskiniemi, M.2
  • 2
    • 0025098965 scopus 로고
    • The Ramsay-Hunt syndrome revisited: Mediterranean myoclonus versus mitochondrial encephalomyopathy with ragged-red fibers and Baltic myoclonus
    • Genton, P., Michelucci, R., Tassinari, C. A. & Roger, J. The Ramsay-Hunt syndrome revisited: Mediterranean myoclonus versus mitochondrial encephalomyopathy with ragged-red fibers and Baltic myoclonus. Acta Neurol. Scand. 81, 8-15 (1990).
    • (1990) Acta Neurol. Scand. , vol.81 , pp. 8-15
    • Genton, P.1    Michelucci, R.2    Tassinari, C.A.3    Roger, J.4
  • 3
    • 13344269666 scopus 로고    scopus 로고
    • Mutations in the gene encoding Cystatin B in progressive myoclonus epilepsy (EPM1)
    • Pennacchio, L. A. et al. Mutations in the gene encoding Cystatin B in progressive myoclonus epilepsy (EPM1). Science 271, 1731-1734 (1996).
    • (1996) Science , vol.271 , pp. 1731-1734
    • Pennacchio, L.A.1
  • 4
    • 16944365407 scopus 로고    scopus 로고
    • Identification of mutations in Cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1)
    • Lalioti, M. D. et al. Identification of mutations in Cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1). Am. J. Hum. Genet. 60, 342-351 (1997).
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 342-351
    • Lalioti, M.D.1
  • 5
    • 0031034894 scopus 로고    scopus 로고
    • Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1
    • Lafrenière, R. G. et al. Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1. Nature Genet. 15, 298-302 (1997).
    • (1997) Nature Genet. , vol.15 , pp. 298-302
    • Lafrenière, R.G.1
  • 6
    • 0027236091 scopus 로고
    • Localisation of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: Linkage disequilibrium allows high resolution mapping
    • Lehesjoki, A.-E. et al. Localisation of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping. Hum. Mol. Genet. 2, 1229-1234 (1993).
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 1229-1234
    • Lehesjoki, A.-E.1
  • 7
    • 0025280026 scopus 로고
    • Centre d'etude du polymorphisme humain (CEPH): Collaborative genetic mapping of the human genome
    • Dausset, J. et al. Centre d'etude du polymorphisme humain (CEPH): collaborative genetic mapping of the human genome. Genomics 6, 575-577 (1990).
    • (1990) Genomics , vol.6 , pp. 575-577
    • Dausset, J.1
  • 8
    • 0029051470 scopus 로고
    • The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutabiity in germline and somatic cells
    • Talbot, C. C. et al. The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutabiity in germline and somatic cells. Hum. Mol. Genet. 4, 1193-1199 (1995).
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1193-1199
    • Talbot, C.C.1
  • 9
    • 1842385248 scopus 로고    scopus 로고
    • Allelic heterogeneity of Mediterranean myoclonus
    • in the press
    • Labauge, P. et al. Allelic heterogeneity of Mediterranean myoclonus. Ann. Neurol. (in the press).
    • Ann. Neurol.
    • Labauge, P.1
  • 10
    • 0029968460 scopus 로고    scopus 로고
    • Trinucleotide repeats in neurogenetic disorders
    • Paulson, H. L. & Fischbeck, K. H. Trinucleotide repeats in neurogenetic disorders. Annu. Rev. Neurosci. 19, 79-107 (1996).
    • (1996) Annu. Rev. Neurosci. , vol.19 , pp. 79-107
    • Paulson, H.L.1    Fischbeck, K.H.2
  • 11
    • 0029584496 scopus 로고
    • Trinucleotide repeat expansion and human disease
    • Ashley, C. T. & Warren, S. T. Trinucleotide repeat expansion and human disease. Annu. Rev. Genet. 29, 703-728 (1995).
    • (1995) Annu. Rev. Genet. , vol.29 , pp. 703-728
    • Ashley, C.T.1    Warren, S.T.2
  • 12
    • 0026767610 scopus 로고
    • Dynamic mutations: A new class of mutations causing human disease
    • Richards, R. I. & Sutherland, G. R. Dynamic mutations: a new class of mutations causing human disease. Cell 70, 709-712 (1992).
    • (1992) Cell , vol.70 , pp. 709-712
    • Richards, R.I.1    Sutherland, G.R.2
  • 13
    • 13344270899 scopus 로고    scopus 로고
    • Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
    • Campuzano, V. et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271, 1423-1427 (1996).
    • (1996) Science , vol.271 , pp. 1423-1427
    • Campuzano, V.1
  • 14
    • 0030974861 scopus 로고    scopus 로고
    • Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeat
    • Yu, S. et al. Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeat. Cell 88, 367-374 (1996).
    • (1996) Cell , vol.88 , pp. 367-374
    • Yu, S.1
  • 15
    • 0025817602 scopus 로고
    • The cystatins: Protein inhibitors of cysteine proteinases
    • Turk, V. & Bode, W. The cystatins: protein inhibitors of cysteine proteinases. FEBS Lett. 285, 213-219 (1991).
    • (1991) FEBS Lett. , vol.285 , pp. 213-219
    • Turk, V.1    Bode, W.2
  • 16
    • 0025833298 scopus 로고
    • Absence of expression ofthe FMR-1 gene in fragile X syndrome
    • Pieretti, M. et al. Absence of expression ofthe FMR-1 gene in fragile X syndrome. Cell 66, 817-822 (1991).
    • (1991) Cell , vol.66 , pp. 817-822
    • Pieretti, M.1
  • 17
    • 0030137717 scopus 로고    scopus 로고
    • Identification of the gene FMR2, associated with FRAXE mental retardation
    • Gecz, J., Gedeon, A. K., Sutherland, G. R. & Mulley, J. C. Identification of the gene FMR2, associated with FRAXE mental retardation. Nat Genet. 13, 105-108 (1996).
    • (1996) Nat Genet. , vol.13 , pp. 105-108
    • Gecz, J.1    Gedeon, A.K.2    Sutherland, G.R.3    Mulley, J.C.4
  • 18
    • 0030138905 scopus 로고    scopus 로고
    • Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island
    • Gu, Y., Shen, Y., Gibbs, R. A. & Nelson, D. L. Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Nat. Genet. 13, 109-113 (1996).
    • (1996) Nat. Genet. , vol.13 , pp. 109-113
    • Gu, Y.1    Shen, Y.2    Gibbs, R.A.3    Nelson, D.L.4
  • 19
    • 0027246344 scopus 로고
    • Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy
    • Fu, Y.-H. et al. Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy. Science 260, 235-238 (1993).
    • (1993) Science , vol.260 , pp. 235-238
    • Fu, Y.-H.1
  • 20
    • 0027163546 scopus 로고
    • Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene
    • Sabouri, L. A. et al. Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene. Nature Genet. 4, 233-238 (1993).
    • (1993) Nature Genet. , vol.4 , pp. 233-238
    • Sabouri, L.A.1
  • 21
    • 0026339303 scopus 로고
    • Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
    • Oberle, I. et al. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252, 1097-1102 (1991).
    • (1991) Science , vol.252 , pp. 1097-1102
    • Oberle, I.1
  • 22
    • 0027203684 scopus 로고
    • Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation
    • Knight, S. J. L. et al. Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 74, 127-134 (1993).
    • (1993) Cell , vol.74 , pp. 127-134
    • Knight, S.J.L.1
  • 23
    • 0025905795 scopus 로고
    • Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
    • Verkerk, A. J. et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65, 905-914 (1991).
    • (1991) Cell , vol.65 , pp. 905-914
    • Verkerk, A.J.1
  • 24
    • 0026566108 scopus 로고
    • Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
    • Brook, J.D. et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 68, 799-808 (1992).
    • (1992) Cell , vol.68 , pp. 799-808
    • Brook, J.D.1
  • 26
    • 0024412752 scopus 로고
    • Transcriptional repression of eukaryotic promoters
    • Levine, M. & Manley, J.-L. Transcriptional repression of eukaryotic promoters. Cell 59, 405-408 (1989).
    • (1989) Cell , vol.59 , pp. 405-408
    • Levine, M.1    Manley, J.-L.2
  • 27
    • 0027386971 scopus 로고
    • Transcriptional inhibition of the murine erythropoietin receptor gene by an upstream repetitive element
    • Youssoufian, H. & Lodish, H. F. Transcriptional inhibition of the murine erythropoietin receptor gene by an upstream repetitive element. Mol. Cell. Biol. 13, 98-104 (1993).
    • (1993) Mol. Cell. Biol. , vol.13 , pp. 98-104
    • Youssoufian, H.1    Lodish, H.F.2
  • 28
    • 0028673327 scopus 로고
    • Families of cysteine peptidases
    • Rawlings, N. D. & Barrett, A. J. Families of cysteine peptidases. Meth. Enzymol. 244, 461-486 (1994).
    • (1994) Meth. Enzymol. , vol.244 , pp. 461-486
    • Rawlings, N.D.1    Barrett, A.J.2
  • 30
    • 0029806140 scopus 로고    scopus 로고
    • Isolation and characterization of the mouse cystatin B gene
    • Pennacchio, L. A. & Myers, R. M. Isolation and characterization of the mouse cystatin B gene. Genome Res. 6, 1103-1109 (1996).
    • (1996) Genome Res. , vol.6 , pp. 1103-1109
    • Pennacchio, L.A.1    Myers, R.M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.