메뉴 건너뛰기




Volumn 13, Issue 1, 2012, Pages

Common inversion polymorphism at 17q21.31 affects expression of multiple genes in tissue-specific manner

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOTROPIN RELEASING FACTOR RECEPTOR 1; TAU PROTEIN;

EID: 84865804544     PISSN: None     EISSN: 14712164     Source Type: Journal    
DOI: 10.1186/1471-2164-13-458     Document Type: Article
Times cited : (53)

References (25)
  • 2
    • 55949134996 scopus 로고    scopus 로고
    • Role of the tau gene region chromosome inversion in progressive supranuclear palsy, corticobasal degeneration, and related disorders
    • 10.1001/archneur.65.11.1473, 2680206, 19001166
    • Webb A, Miller B, Bonasera S, Boxer A, Karydas A, Wilhelmsen KC. Role of the tau gene region chromosome inversion in progressive supranuclear palsy, corticobasal degeneration, and related disorders. Arch Neurol 2008, 65(11):1473-1478. 10.1001/archneur.65.11.1473, 2680206, 19001166.
    • (2008) Arch Neurol , vol.65 , Issue.11 , pp. 1473-1478
    • Webb, A.1    Miller, B.2    Bonasera, S.3    Boxer, A.4    Karydas, A.5    Wilhelmsen, K.C.6
  • 5
    • 26444608642 scopus 로고    scopus 로고
    • Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region
    • 10.1093/hmg/ddi182, 15888485
    • Cruts M, Rademakers R, Gijselinck I, van der Zee J, Dermaut B, de Pooter T, de Rijk P, Del-Favero J, van Broeckhoven C. Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region. Hum Mol Genet 2005, 14(13):1753-1762. 10.1093/hmg/ddi182, 15888485.
    • (2005) Hum Mol Genet , vol.14 , Issue.13 , pp. 1753-1762
    • Cruts, M.1    Rademakers, R.2    Gijselinck, I.3    van der Zee, J.4    Dermaut, B.5    de Pooter, T.6    de Rijk, P.7    Del-Favero, J.8    van Broeckhoven, C.9
  • 8
    • 77955717301 scopus 로고    scopus 로고
    • Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotype
    • 10.1159/000315901, 3202913, 20606400
    • Rao PN, Li W, Vissers LE, Veltman JA, Ophoff RA. Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotype. Cytogenet Genome Res 2010, 129(4):275-279. 10.1159/000315901, 3202913, 20606400.
    • (2010) Cytogenet Genome Res , vol.129 , Issue.4 , pp. 275-279
    • Rao, P.N.1    Li, W.2    Vissers, L.E.3    Veltman, J.A.4    Ophoff, R.A.5
  • 10
    • 33847178181 scopus 로고    scopus 로고
    • The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts
    • 10.1016/j.nbd.2006.10.018, 17174556
    • Myers AJ, Pittman AM, Zhao AS, Rohrer K, Kaleem M, Marlowe L, Lees A, Leung D, McKeith IG, Perry RH, et al. The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts. Neurobiol Dis 2007, 25(3):561-570. 10.1016/j.nbd.2006.10.018, 17174556.
    • (2007) Neurobiol Dis , vol.25 , Issue.3 , pp. 561-570
    • Myers, A.J.1    Pittman, A.M.2    Zhao, A.S.3    Rohrer, K.4    Kaleem, M.5    Marlowe, L.6    Lees, A.7    Leung, D.8    McKeith, I.G.9    Perry, R.H.10
  • 11
    • 27744488802 scopus 로고    scopus 로고
    • High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy
    • 10.1093/hmg/ddi361, 16195395
    • Rademakers R, Melquist S, Cruts M, Theuns J, Del-Favero J, Poorkaj P, Baker M, Sleegers K, Crook R, De Pooter T, et al. High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy. Hum Mol Genet 2005, 14(21):3281-3292. 10.1093/hmg/ddi361, 16195395.
    • (2005) Hum Mol Genet , vol.14 , Issue.21 , pp. 3281-3292
    • Rademakers, R.1    Melquist, S.2    Cruts, M.3    Theuns, J.4    Del-Favero, J.5    Poorkaj, P.6    Baker, M.7    Sleegers, K.8    Crook, R.9    De Pooter, T.10
  • 12
    • 10944227282 scopus 로고    scopus 로고
    • Tau phosphorylation: physiological and pathological consequences
    • Stoothoff WH, Johnson GV. Tau phosphorylation: physiological and pathological consequences. Biochim Biophys Acta 2005, 1739(2-3):280-297.
    • (2005) Biochim Biophys Acta , vol.1739 , Issue.2-3 , pp. 280-297
    • Stoothoff, W.H.1    Johnson, G.V.2
  • 15
    • 39749179636 scopus 로고    scopus 로고
    • A new heterozygous mutation (R714C) of the osteopetrosis gene, pleckstrin homolog domain containing family M (with run domain) member 1 (PLEKHM1), impairs vesicular acidification and increases TRACP secretion in osteoclasts
    • Del Fattore A, Fornari R, Van Wesenbeeck L, de Freitas F, Timmermans JP, Peruzzi B, Cappariello A, Rucci N, Spera G, Helfrich MH, et al. A new heterozygous mutation (R714C) of the osteopetrosis gene, pleckstrin homolog domain containing family M (with run domain) member 1 (PLEKHM1), impairs vesicular acidification and increases TRACP secretion in osteoclasts. J Bone Miner Res 2008, 23(3):380-391.
    • (2008) J Bone Miner Res , vol.23 , Issue.3 , pp. 380-391
    • Del Fattore, A.1    Fornari, R.2    Van Wesenbeeck, L.3    de Freitas, F.4    Timmermans, J.P.5    Peruzzi, B.6    Cappariello, A.7    Rucci, N.8    Spera, G.9    Helfrich, M.H.10
  • 16
    • 77952888304 scopus 로고    scopus 로고
    • The CRF system, stress, depression and anxiety-insights from human genetic studies
    • 10.1038/mp.2009.141, 20010888
    • Binder EB, Nemeroff CB. The CRF system, stress, depression and anxiety-insights from human genetic studies. Mol Psychiatry 2010, 15(6):574-588. 10.1038/mp.2009.141, 20010888.
    • (2010) Mol Psychiatry , vol.15 , Issue.6 , pp. 574-588
    • Binder, E.B.1    Nemeroff, C.B.2
  • 20
    • 84863661788 scopus 로고    scopus 로고
    • Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome
    • 10.1371/journal.pgen.1002692, 3355074, 22615578
    • Li J, Harris RA, Cheung SW, Coarfa C, Jeong M, Goodell MA, White LD, Patel A, Kang SH, Shaw C, et al. Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome. PLoS genetics 2012, 8(5):e1002692. 10.1371/journal.pgen.1002692, 3355074, 22615578.
    • (2012) PLoS genetics , vol.8 , Issue.5
    • Li, J.1    Harris, R.A.2    Cheung, S.W.3    Coarfa, C.4    Jeong, M.5    Goodell, M.A.6    White, L.D.7    Patel, A.8    Kang, S.H.9    Shaw, C.10
  • 23
    • 0037316303 scopus 로고    scopus 로고
    • A comparison of normalization methods for high density oligonucleotide array data based on variance and bias
    • 10.1093/bioinformatics/19.2.185, 12538238
    • Bolstad BM, Irizarry RA, Astrand M, Speed TP. A comparison of normalization methods for high density oligonucleotide array data based on variance and bias. Bioinformatics 2003, 19(2):185-193. 10.1093/bioinformatics/19.2.185, 12538238.
    • (2003) Bioinformatics , vol.19 , Issue.2 , pp. 185-193
    • Bolstad, B.M.1    Irizarry, R.A.2    Astrand, M.3    Speed, T.P.4
  • 24
    • 46249088370 scopus 로고    scopus 로고
    • Lumi: a pipeline for processing Illumina microarray
    • 10.1093/bioinformatics/btn224, 18467348
    • Du P, Kibbe WA, Lin SM. Lumi: a pipeline for processing Illumina microarray. Bioinformatics 2008, 24(13):1547-1548. 10.1093/bioinformatics/btn224, 18467348.
    • (2008) Bioinformatics , vol.24 , Issue.13 , pp. 1547-1548
    • Du, P.1    Kibbe, W.A.2    Lin, S.M.3
  • 25
    • 33746512512 scopus 로고    scopus 로고
    • Principal components analysis corrects for stratification in genome-wide association studies
    • 10.1038/ng1847, 16862161
    • Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, Reich D. Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 2006, 38(8):904-909. 10.1038/ng1847, 16862161.
    • (2006) Nat Genet , vol.38 , Issue.8 , pp. 904-909
    • Price, A.L.1    Patterson, N.J.2    Plenge, R.M.3    Weinblatt, M.E.4    Shadick, N.A.5    Reich, D.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.