메뉴 건너뛰기




Volumn 5, Issue 11, 2010, Pages

Screening for familial APP mutations in sporadic cerebral amyloid angiopathy

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID PRECURSOR PROTEIN;

EID: 78649753680     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0013949     Document Type: Article
Times cited : (16)

References (22)
  • 1
    • 43549084587 scopus 로고    scopus 로고
    • Monogenic diabetes in the young, pharmaco-genetics and relevance to multifactorial forms of type 2 diabetes
    • Vaxillaire M, Froguel P (2008) Monogenic diabetes in the young, pharmaco-genetics and relevance to multifactorial forms of type 2 diabetes. Endocr Rev 29: 254-64.
    • (2008) Endocr Rev , vol.29 , pp. 254-264
    • Vaxillaire, M.1    Froguel, P.2
  • 2
    • 0037317981 scopus 로고    scopus 로고
    • Large scale association studies of variants in genes encoding the pancreatic b-cell K-ATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with increased risk of type 2 diabetes
    • Gloyn AL, Weedon MN, Owen KR, Turner MJ, Knight BA, et al. (2003) Large scale association studies of variants in genes encoding the pancreatic b-cell K-ATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with increased risk of type 2 diabetes. Diabetes 52: 568-572
    • (2003) Diabetes , vol.52 , pp. 568-572
    • Gloyn, A.L.1    Weedon, M.N.2    Owen, K.R.3    Turner, M.J.4    Knight, B.A.5
  • 3
    • 2342561802 scopus 로고    scopus 로고
    • Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region
    • Florez JC, Burtt N, de Bakker PI, Almgren P, Tuomi T, et al. (2004) Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region. Diabetes 53: 1360-1368.
    • (2004) Diabetes , vol.53 , pp. 1360-1368
    • Florez, J.C.1    Burtt, N.2    de Bakker, P.I.3    Almgren, P.4    Tuomi, T.5
  • 4
    • 0035957075 scopus 로고    scopus 로고
    • Clinical diagnosis of cerebral amyloid angiopathy: Validation of the boston criteria
    • Knudsen KA, Rosand J, Karluk D, Greenberg SM (2001) Clinical diagnosis of cerebral amyloid angiopathy: Validation of the boston criteria. Neurology 56: 537-539.
    • (2001) Neurology , vol.56 , pp. 537-539
    • Knudsen, K.A.1    Rosand, J.2    Karluk, D.3    Greenberg, S.M.4
  • 5
    • 33746853958 scopus 로고    scopus 로고
    • Progression of white matter lesions and hemorrhages in cerebral amyloid angiopathy
    • Chen YW, Gurol ME, Rosand J, Viswanathan A, Rakich SM, et al. (2006) Progression of white matter lesions and hemorrhages in cerebral amyloid angiopathy. Neurology 67: 83-87.
    • (2006) Neurology , vol.67 , pp. 83-87
    • Chen, Y.W.1    Gurol, M.E.2    Rosand, J.3    Viswanathan, A.4    Rakich, S.M.5
  • 6
    • 8644231001 scopus 로고    scopus 로고
    • White matter lesions, cognition, and recurrent hemorrhage in lobar intracerebral hemorrhage
    • Smith EE, Gurol ME, Eng JA, Engel CR, Nguyen TN, et al. (2004) White matter lesions, cognition, and recurrent hemorrhage in lobar intracerebral hemorrhage. Neurology 63: 1606-1612.
    • (2004) Neurology , vol.63 , pp. 1606-1612
    • Smith, E.E.1    Gurol, M.E.2    Eng, J.A.3    Engel, C.R.4    Nguyen, T.N.5
  • 8
    • 0036096013 scopus 로고    scopus 로고
    • Genetic and environmental risk factors for intracerebral hemorrhage: Preliminary results of a population-based study
    • Woo D, Sauerbeck LR, Kissela BM, Khoury JC, Szaflarski JP, et al. (2002) Genetic and environmental risk factors for intracerebral hemorrhage: Preliminary results of a population-based study. Stroke 33: 1190-1196.
    • (2002) Stroke , vol.33 , pp. 1190-1196
    • Woo, D.1    Sauerbeck, L.R.2    Kissela, B.M.3    Khoury, J.C.4    Szaflarski, J.P.5
  • 9
    • 0025989981 scopus 로고
    • DNA diagnosis for hereditary cerebral hemorrhage with amyloidosis (dutch type)
    • Bakker E, van Broeckhoven C, Haan J, Voorhoeve E, van Hul W, et al. (1991) DNA diagnosis for hereditary cerebral hemorrhage with amyloidosis (dutch type). Am J Hum Genet. 49: 518-521.
    • (1991) Am J Hum Genet , vol.49 , pp. 518-521
    • Bakker, E.1    van Broeckhoven, C.2    Haan, J.3    Voorhoeve, E.4    van Hul, W.5
  • 10
    • 0034282630 scopus 로고    scopus 로고
    • Substitutions at codon 22 of alzheimer's abeta peptide induce diverse conformational changes and apoptotic effects in human cerebral endothelial cells
    • Miravalle L, Tokuda T, Chiarle R, Giaccone G, Bugiani O, et al. (2000) Substitutions at codon 22 of alzheimer's abeta peptide induce diverse conformational changes and apoptotic effects in human cerebral endothelial cells. J Biol Chem 275: 27110-27116.
    • (2000) J Biol Chem , vol.275 , pp. 27110-27116
    • Miravalle, L.1    Tokuda, T.2    Chiarle, R.3    Giaccone, G.4    Bugiani, O.5
  • 11
    • 0000378557 scopus 로고    scopus 로고
    • A novel app mutation (e693g). The arctic mutation, causing alzheimer's disease with vascular symptoms
    • Nilsberth C, Forsell C, Axelman K, Gustafsson C, Luthman J, et al. (1999) A novel app mutation (e693g). The arctic mutation, causing alzheimer's disease with vascular symptoms. Soc Neurosci Abs 25: 297.
    • (1999) Soc Neurosci Abs , vol.25 , pp. 297
    • Nilsberth, C.1    Forsell, C.2    Axelman, K.3    Gustafsson, C.4    Luthman, J.5
  • 12
    • 0034982951 scopus 로고    scopus 로고
    • Novel amyloid precursor protein mutation in an iowa family with dementia and severe cerebral amyloid angiopathy
    • Grabowski TJ, Cho HS, Vonsattel JP, Rebeck GW, Greenberg SM (2001) Novel amyloid precursor protein mutation in an iowa family with dementia and severe cerebral amyloid angiopathy. Ann Neurol 49: 697-705.
    • (2001) Ann Neurol , vol.49 , pp. 697-705
    • Grabowski, T.J.1    Cho, H.S.2    Vonsattel, J.P.3    Rebeck, G.W.4    Greenberg, S.M.5
  • 13
    • 0026879650 scopus 로고
    • Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene
    • Hendriks L, van Duijn CM, Cras P, Cruts M, Van Hul W, et al. (1992) Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene. Nature Genetics 1: 218-221.
    • (1992) Nature Genetics , vol.1 , pp. 218-221
    • Hendriks, L.1    van Duijn, C.M.2    Cras, P.3    Cruts, M.4    van Hul, W.5
  • 14
    • 25444432529 scopus 로고    scopus 로고
    • A novel abetapp mutation exclusively associated with cerebral amyloid angiopathy
    • Obici L, Demarchi A, de Rosa G, Bellotti V, Marciano S, et al. (2005) A novel abetapp mutation exclusively associated with cerebral amyloid angiopathy. Ann Neurol 58: 639-644.
    • (2005) Ann Neurol , vol.58 , pp. 639-644
    • Obici, L.1    Demarchi, A.2    de Rosa, G.3    Bellotti, V.4    Marciano, S.5
  • 15
    • 29444442794 scopus 로고    scopus 로고
    • App locus duplication causes autosomal dominant early-onset alzheimer disease with cerebral amyloid angiopathy
    • Rovelet-Lecrux A, Hannequin D, Raux G, Le Meur N, Laquerriere A, et al. (2006) App locus duplication causes autosomal dominant early-onset alzheimer disease with cerebral amyloid angiopathy. Nature Genetics 38: 24-26.
    • (2006) Nature Genetics , vol.38 , pp. 24-26
    • Rovelet-Lecrux, A.1    Hannequin, D.2    Raux, G.3    Meur, N.L.4    Laquerriere, A.5
  • 16
    • 0030872838 scopus 로고    scopus 로고
    • PolyPhred: Automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing
    • Nickerson DA, Tobe VO, Taylor SL (1997) PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing. Nucleic Acids Res 25: 2745-2751.
    • (1997) Nucleic Acids Res , vol.25 , pp. 2745-2751
    • Nickerson, D.A.1    Tobe, V.O.2    Taylor, S.L.3
  • 17
    • 79959524146 scopus 로고    scopus 로고
    • A haplotype map of the human genome
    • The International HapMap Consortium
    • The International HapMap Consortium (2005) A haplotype map of the human genome. Nature 437: 1299-1320.
    • (2005) Nature , vol.437 , pp. 1299-1320
  • 18
    • 78649737152 scopus 로고    scopus 로고
    • New York: Duxbury Ed. (Thomson Learning)
    • Rosner B (2000) Fundamental of Biostatistics. New York: Duxbury Ed. (Thomson Learning). 195 p.
    • (2000) Fundamental of Biostatistics , pp. 195
    • Rosner, B.1
  • 19
    • 0030798816 scopus 로고    scopus 로고
    • Diagnosis of cerebral amyloid angiopathy. Sensitivity and specificity of cortical biopsy
    • Greenberg SM, Vonsattel JP (1997) Diagnosis of cerebral amyloid angiopathy. Sensitivity and specificity of cortical biopsy. Stroke 28: 1418-1422.
    • (1997) Stroke , vol.28 , pp. 1418-1422
    • Greenberg, S.M.1    Vonsattel, J.P.2
  • 20
    • 0026004781 scopus 로고
    • Cerebral amyloid angiopathy without and with cerebral hemorrhages: A comparative histological study
    • Vonsattel JP, Myers RH, Hedley-Whyte ET, Ropper AH, Bird ED, et al. (1991) Cerebral amyloid angiopathy without and with cerebral hemorrhages: A comparative histological study. Ann Neurol 30: 637-649.
    • (1991) Ann Neurol , vol.30 , pp. 637-649
    • Vonsattel, J.P.1    Myers, R.H.2    Hedley-Whyte, E.T.3    Ropper, A.H.4    Bird, E.D.5
  • 21
    • 8644240928 scopus 로고    scopus 로고
    • Vascular pathologies and cognition in a population-based cohort of elderly people
    • MRC Cognitive Function and Ageing Neuropathology Study Group
    • Fernando MS, Ince PG, MRC Cognitive Function and Ageing Neuropathology Study Group (2004) Vascular pathologies and cognition in a population-based cohort of elderly people. J Neurol Sci 226: 13-17.
    • (2004) J Neurol Sci , vol.226 , pp. 13-17
    • Fernando, M.S.1    Ince, P.G.2
  • 22
    • 3843056691 scopus 로고    scopus 로고
    • Multiple rare alleles contribute to low plasma levels of HDL cholesterol
    • Cohen JC, Kiss RS, Pertsemlidis A, Marcel YL, McPherson R, et al. (2004) Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science 305: 869-72.
    • (2004) Science , vol.305 , pp. 869-872
    • Cohen, J.C.1    Kiss, R.S.2    Pertsemlidis, A.3    Marcel, Y.L.4    McPherson, R.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.