메뉴 건너뛰기




Volumn 2, Issue 3, 2016, Pages

Screening for novel hexanucleotide repeat expansions at ALS-and FTD-associated loci

Author keywords

[No Author keywords available]

Indexed keywords

AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CLINICAL EVALUATION; CONTROLLED STUDY; DISEASE ASSOCIATION; FLUORESCENCE ANALYSIS; FRONTOTEMPORAL DEMENTIA; GENE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC SCREENING; HEXANUCLEOTIDE REPEAT; HUMAN; MAJOR CLINICAL STUDY; NUCLEOTIDE REPEAT; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RISK FACTOR; SCREENING TEST; UNITED STATES;

EID: 85014925885     PISSN: None     EISSN: 23767839     Source Type: Journal    
DOI: 10.1212/NXG.0000000000000071     Document Type: Article
Times cited : (5)

References (36)
  • 1
    • 80054837386 scopus 로고    scopus 로고
    • A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
    • Renton AE, Majounie E, Waite A, et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011; 72: 257-268
    • (2011) Neuron , vol.72 , pp. 257-268
    • Renton, A.E.1    Majounie, E.2    Waite, A.3
  • 2
    • 80054832080 scopus 로고    scopus 로고
    • Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
    • DeJesus-Hernandez M, Mackenzie IR, Boeve BF, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011; 72: 245-256
    • (2011) Neuron , vol.72 , pp. 245-256
    • DeJesus-Hernandez, M.1    Mackenzie, I.R.2    Boeve, B.F.3
  • 3
    • 84942374555 scopus 로고    scopus 로고
    • A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease
    • Gami P, Murray C, Schottlaender L, et al. A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease. Acta Neuropathol 2015; 130: 599-601
    • (2015) Acta Neuropathol , vol.130 , pp. 599-601
    • Gami, P.1    Murray, C.2    Schottlaender, L.3
  • 4
    • 84861943506 scopus 로고    scopus 로고
    • Cell biology of spinocerebellar ataxia
    • Orr HT. Cell biology of spinocerebellar ataxia. J Cell Biol 2012; 197: 167-177
    • (2012) J Cell Biol , vol.197 , pp. 167-177
    • Orr, H.T.1
  • 5
    • 0034574407 scopus 로고    scopus 로고
    • El Escorial revisited: Revised criteria for the diagnosis of amyotrophic lateral sclerosis
    • World Federation of Neurology Research Group on Motor Neuron Disease
    • Brooks BR, Miller RG, Swash M, Munsat TL; World Federation of Neurology Research Group on Motor Neuron Disease. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 2000; 1: 293-299
    • (2000) Amyotroph Lateral Scler Other Motor Neuron Disord , vol.1 , pp. 293-299
    • Brooks, B.R.1    Miller, R.G.2    Swash, M.3    Munsat, T.L.4
  • 6
    • 2442658908 scopus 로고    scopus 로고
    • DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4
    • Chen YZ, Bennett CL, Huynh HM, et al. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet 2004; 74: 1128-1135
    • (2004) Am J Hum Genet , vol.74 , pp. 1128-1135
    • Chen, Y.Z.1    Bennett, C.L.2    Huynh, H.M.3
  • 7
  • 8
    • 84926136044 scopus 로고    scopus 로고
    • Genetic causes of amyotrophic lateral sclerosis: New genetic analysis methodologies entailing new opportunities and challenges
    • Marangi G, Traynor BJ. Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges. Brain Res 2015; 1607: 75-93
    • (2015) Brain Res , vol.1607 , pp. 75-93
    • Marangi, G.1    Traynor, B.J.2
  • 9
    • 84876571339 scopus 로고    scopus 로고
    • Biogps and mygene.info: Organizing online, gene-centric information
    • Wu C, Macleod I, Su AI. BioGPS and MyGene.info: organizing online, gene-centric information. Nucleic Acids Res 2013; 41: D561-D565
    • (2013) Nucleic Acids Res , vol.41 , pp. D561-D565
    • Wu, C.1    Macleod, I.2    Su, A.I.3
  • 10
    • 84901611036 scopus 로고    scopus 로고
    • Mass-spectrometry-based draft of the human proteome
    • Wilhelm M, Schlegl J, Hahne H, et al. Mass-spectrometry-based draft of the human proteome. Nature 2014; 509: 582-587
    • (2014) Nature , vol.509 , pp. 582-587
    • Wilhelm, M.1    Schlegl, J.2    Hahne, H.3
  • 11
    • 84877344506 scopus 로고    scopus 로고
    • C9ORF72 expansion in a family with bipolar disorder
    • Meisler MH, Grant AE, Jones JM, et al. C9ORF72 expansion in a family with bipolar disorder. Bipolar Disord 2013; 15: 326-332
    • (2013) Bipolar Disord , vol.15 , pp. 326-332
    • Meisler, M.H.1    Grant, A.E.2    Jones, J.M.3
  • 12
    • 77956876046 scopus 로고    scopus 로고
    • Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: A genome-wide association study
    • Laaksovirta H, Peuralinna T, Schymick JC, et al. Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. Lancet Neurol 2010; 9: 978-985
    • (2010) Lancet Neurol , vol.9 , pp. 978-985
    • Laaksovirta, H.1    Peuralinna, T.2    Schymick, J.C.3
  • 13
    • 77956877621 scopus 로고    scopus 로고
    • Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: A genome-wide association study
    • Shatunov A, Mok K, Newhouse S, et al. Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol 2010; 9: 986-994
    • (2010) Lancet Neurol , vol.9 , pp. 986-994
    • Shatunov, A.1    Mok, K.2    Newhouse, S.3
  • 14
    • 70349592269 scopus 로고    scopus 로고
    • Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
    • van Es MA, Veldink JH, Saris CG, et al. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet 2009; 41: 1083-1087
    • (2009) Nat Genet , vol.41 , pp. 1083-1087
    • Van Es, M.A.1    Veldink, J.H.2    Saris, C.G.3
  • 15
    • 84884163243 scopus 로고    scopus 로고
    • Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): A cross-sectional cohort study
    • van Blitterswijk M, DeJesus-Hernandez M, Niemantsverdriet E, et al. Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study. Lancet Neurol 2013; 12: 978-988
    • (2013) Lancet Neurol , vol.12 , pp. 978-988
    • Van Blitterswijk, M.1    DeJesus-Hernandez, M.2    Niemantsverdriet, E.3
  • 16
    • 10744230604 scopus 로고    scopus 로고
    • Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxiaocular apraxia 2
    • Moreira MC, Klur S, Watanabe M, et al. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxiaocular apraxia 2. Nat Genet 2004; 36: 225-227
    • (2004) Nat Genet , vol.36 , pp. 225-227
    • Moreira, M.C.1    Klur, S.2    Watanabe, M.3
  • 17
    • 84921417056 scopus 로고    scopus 로고
    • Processing of double-R-loops in (CAG)$(CTG) and C9orf72 (GGGGCC)$ (GGCCCC) repeats causes instability
    • Reddy K, Schmidt MH, Geist JM, et al. Processing of double-R-loops in (CAG)$(CTG) and C9orf72 (GGGGCC)$ (GGCCCC) repeats causes instability. Nucleic Acids Res 2014; 42: 10473-10487
    • (2014) Nucleic Acids Res , vol.42 , pp. 10473-10487
    • Reddy, K.1    Schmidt, M.H.2    Geist, J.M.3
  • 18
    • 84858622829 scopus 로고    scopus 로고
    • Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study
    • Majounie E, Renton AE, Mok K, et al. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol 2012; 11: 323-330
    • (2012) Lancet Neurol , vol.11 , pp. 323-330
    • Majounie, E.1    Renton, A.E.2    Mok, K.3
  • 19
    • 34547692622 scopus 로고    scopus 로고
    • Trinucleotide repeat disorders
    • Orr HT, Zoghbi HY. Trinucleotide repeat disorders. Annu Rev Neurosci 2007; 30: 575-621
    • (2007) Annu Rev Neurosci , vol.30 , pp. 575-621
    • Orr, H.T.1    Zoghbi, H.Y.2
  • 20
    • 84896699287 scopus 로고    scopus 로고
    • The widening spectrum of C9ORF72-related disease; Genotype/phenotype correlations and potential modifiers of clinical phenotype
    • Cooper-Knock J, Shaw PJ, Kirby J. The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype. Acta Neuropathol 2014; 127: 333-345
    • (2014) Acta Neuropathol , vol.127 , pp. 333-345
    • Cooper-Knock, J.1    Shaw, P.J.2    Kirby, J.3
  • 21
    • 80054807478 scopus 로고    scopus 로고
    • RGS14 at the interface of hippocampal signaling and synaptic plasticity
    • Vellano CP, Lee SE, Dudek SM, Hepler JR. RGS14 at the interface of hippocampal signaling and synaptic plasticity. Trends Pharmacol Sci 2011; 32: 666-674
    • (2011) Trends Pharmacol Sci , vol.32 , pp. 666-674
    • Vellano, C.P.1    Lee, S.E.2    Dudek, S.M.3    Hepler, J.R.4
  • 22
    • 80051549115 scopus 로고    scopus 로고
    • Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement
    • Kobayashi H, Abe K, Matsuura T, et al. Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement. Am J Hum Genet 2011; 89: 121-130
    • (2011) Am J Hum Genet , vol.89 , pp. 121-130
    • Kobayashi, H.1    Abe, K.2    Matsuura, T.3
  • 23
    • 77956155218 scopus 로고    scopus 로고
    • Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
    • Elden AC, Kim HJ, Hart MP, et al. Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature 2010; 466: 1069-1075
    • (2010) Nature , vol.466 , pp. 1069-1075
    • Elden, A.C.1    Kim, H.J.2    Hart, M.P.3
  • 24
    • 84861156712 scopus 로고    scopus 로고
    • NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis
    • Blauw HM, van Rheenen W, Koppers M, et al. NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis. Hum Mol Genet 2012; 21: 2497-2502
    • (2012) Hum Mol Genet , vol.21 , pp. 2497-2502
    • Blauw, H.M.1    Van Rheenen, W.2    Koppers, M.3
  • 25
    • 85058205487 scopus 로고    scopus 로고
    • Evaluating noncoding nucleotide repeat expansions in amyotrophic lateral sclerosis
    • Figley MD, Thomas A, Gitler AD. Evaluating noncoding nucleotide repeat expansions in amyotrophic lateral sclerosis. Neurobiol Aging 2014; 35: 936.e1-936.e4
    • (2014) Neurobiol Aging , vol.35 , pp. 936e1-936e4
    • Figley, M.D.1    Thomas, A.2    Gitler, A.D.3
  • 26
    • 79959652226 scopus 로고    scopus 로고
    • Evaluating the prevalence of polyglutamine repeat expansions in amyotrophic lateral sclerosis
    • Lee T, Li YR, Chesi A, et al. Evaluating the prevalence of polyglutamine repeat expansions in amyotrophic lateral sclerosis. Neurology 2011; 76: 2062-2065
    • (2011) Neurology , vol.76 , pp. 2062-2065
    • Lee, T.1    Li, Y.R.2    Chesi, A.3
  • 27
    • 84861891366 scopus 로고    scopus 로고
    • CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis
    • Groen EJ, van Rheenen W, Koppers M, et al. CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis. Neurobiol Aging 2012; 33: 1852.e1-1852.e3
    • (2012) Neurobiol Aging , vol.33 , pp. 1852e1-1852e3
    • Groen, E.J.1    Van Rheenen, W.2    Koppers, M.3
  • 28
    • 34548083742 scopus 로고    scopus 로고
    • Wholegenome analysis of sporadic amyotrophic lateral sclerosis
    • Dunckley T, Huentelman MJ, Craig DW, et al. Wholegenome analysis of sporadic amyotrophic lateral sclerosis. N Engl J Med 2007; 357: 775-788
    • (2007) N Engl J Med , vol.357 , pp. 775-788
    • Dunckley, T.1    Huentelman, M.J.2    Craig, D.W.3
  • 29
    • 33847622526 scopus 로고    scopus 로고
    • Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: First stage analysis and public release of data
    • Schymick JC, Scholz SW, Fung HC, et al. Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol 2007; 6: 322-328
    • (2007) Lancet Neurol , vol.6 , pp. 322-328
    • Schymick, J.C.1    Scholz, S.W.2    Fung, H.C.3
  • 30
    • 39749119374 scopus 로고    scopus 로고
    • A genome-wide association study of sporadic ALS in a homogenous Irish population
    • Cronin S, Berger S, Ding J, et al. A genome-wide association study of sporadic ALS in a homogenous Irish population. Hum Mol Genet 2008; 17: 768-774
    • (2008) Hum Mol Genet , vol.17 , pp. 768-774
    • Cronin, S.1    Berger, S.2    Ding, J.3
  • 31
    • 37549062995 scopus 로고    scopus 로고
    • Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis
    • van Es MA, van Vught PW, Blauw HM, et al. Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis. Nat Genet 2008; 40: 29-31
    • (2008) Nat Genet , vol.40 , pp. 29-31
    • Van Es, M.A.1    Van Vught, P.W.2    Blauw, H.M.3
  • 32
    • 64549117768 scopus 로고    scopus 로고
    • A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis
    • Chio A, Schymick JC, Restagno G, et al. A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. Hum Mol Genet 2009; 18: 1524-1532
    • (2009) Hum Mol Genet , vol.18 , pp. 1524-1532
    • Chio, A.1    Schymick, J.C.2    Restagno, G.3
  • 33
    • 67049155508 scopus 로고    scopus 로고
    • Reduced expression of the kinesin-associated protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis
    • Landers JE, Melki J, Meininger V, et al. Reduced expression of the kinesin-associated protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. Proc Natl Acad Sci USA 2009; 106: 9004-9009
    • (2009) Proc Natl Acad Sci USA , vol.106 , pp. 9004-9009
    • Landers, J.E.1    Melki, J.2    Meininger, V.3
  • 34
    • 80052253329 scopus 로고    scopus 로고
    • A functional variant in ZNF512B is associated with susceptibility to amyotrophic lateral sclerosis in Japanese
    • Iida A, Takahashi A, Kubo M, et al. A functional variant in ZNF512B is associated with susceptibility to amyotrophic lateral sclerosis in Japanese. Hum Mol Genet 2011; 20: 3684-3692
    • (2011) Hum Mol Genet , vol.20 , pp. 3684-3692
    • Iida, A.1    Takahashi, A.2    Kubo, M.3
  • 35
    • 84859015231 scopus 로고    scopus 로고
    • A high-density genomewide association screen of sporadic ALS in US veterans
    • Kwee LC, Liu Y, Haynes C, et al. A high-density genomewide association screen of sporadic ALS in US veterans. PLoS One 2012; 7: e32768
    • (2012) Plos One , vol.7 , pp. e32768
    • Kwee, L.C.1    Liu, Y.2    Haynes, C.3
  • 36
    • 84878723887 scopus 로고    scopus 로고
    • Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis
    • Deng M, Wei L, Zuo X, et al. Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis. Nat Genet 2013; 45: 697-700
    • (2013) Nat Genet , vol.45 , pp. 697-700
    • Deng, M.1    Wei, L.2    Zuo, X.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.