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Volumn 44, Issue 9, 2012, Pages 1026-1029

Genome-wide association study identifies a susceptibility locus for thyrotoxic periodic paralysis at 17q24.3

Author keywords

[No Author keywords available]

Indexed keywords

INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR2.1;

EID: 84865680031     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2367     Document Type: Article
Times cited : (39)

References (20)
  • 1
    • 33745786609 scopus 로고    scopus 로고
    • Clinical Review: Thyrotoxic periodic paralysis: A diagnostic challenge
    • DOI 10.1210/jc.2006-0356
    • Kung, A.W. Clinical review: thyrotoxic periodic paralysis: a diagnostic challenge. J. Clin. Endocrinol. Metab. 91, 2490-2495 (2006). (Pubitemid 44024605)
    • (2006) Journal of Clinical Endocrinology and Metabolism , vol.91 , Issue.7 , pp. 2490-2495
    • Kung, A.W.C.1
  • 2
    • 73349132366 scopus 로고    scopus 로고
    • Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis
    • Ryan, D.P. et al. Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis. Cell 140, 88-98 (2010).
    • (2010) Cell , vol.140 , pp. 88-98
    • Ryan, D.P.1
  • 3
    • 0023890867 scopus 로고
    • Measuring the accuracy of diagnostic systems
    • Swets, J.A. Measuring the accuracy of diagnostic systems. Science 240, 1285-1293 (1988).
    • (1988) Science , vol.240 , pp. 1285-1293
    • Swets, J.A.1
  • 4
    • 0020083498 scopus 로고
    • The meaning and use of the area under a receiver operating characteristic (ROC) curve
    • Hanley, J.A. & McNeil, B.J. The meaning and use of the area under a receiver operating characteristic (ROC) curve. Radiology 143, 29-36 (1982). (Pubitemid 12142173)
    • (1982) Radiology , vol.143 , Issue.1 , pp. 29-36
    • Hanley, J.A.1    McNeil, B.J.2
  • 5
    • 79952256739 scopus 로고    scopus 로고
    • The architecture of gene regulatory variation across multiple human tissues: The MuTHER study
    • Nica, A.C. et al. The architecture of gene regulatory variation across multiple human tissues: the MuTHER study. PLoS Genet. 7, e1002003 (2011).
    • (2011) PLoS Genet , vol.7
    • Nica, A.C.1
  • 6
    • 84861632259 scopus 로고    scopus 로고
    • A genome-wide association study identifes novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis
    • Jongjaroenprasert, W. et al. A genome-wide association study identifes novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis. J. Hum. Genet. 57, 301-304 (2012).
    • (2012) J. Hum. Genet. , vol.57 , pp. 301-304
    • Jongjaroenprasert, W.1
  • 7
    • 0033757980 scopus 로고    scopus 로고
    • + channel subunit kir5.1 (KCNJ16) maps to chromosome 17q25 and is expressed in kidney and pancreas
    • + channel subunit kir5.1 (KCNJ16) maps to chromosome 17q25 and is expressed in kidney and pancreas. Cytogenet. Cell Genet. 90, 60-63 (2000).
    • (2000) Cytogenet. Cell Genet. , vol.90 , pp. 60-63
    • Liu, Y.1
  • 8
    • 78650952629 scopus 로고    scopus 로고
    • 2/pH sensitivity
    • 2/pH sensitivity. J. Biol. Chem. 286, 192-198 (2011).
    • (2011) J. Biol. Chem. , vol.286 , pp. 192-198
    • D'Adamo, M.C.1
  • 9
    • 74949143771 scopus 로고    scopus 로고
    • Inwardly rectifying potassium channels: Their structure, function, and physiological roles
    • Hibino, H. et al. Inwardly rectifying potassium channels: their structure, function, and physiological roles. Physiol. Rev. 90, 291-366 (2010).
    • (2010) Physiol. Rev. , vol.90 , pp. 291-366
    • Hibino, H.1
  • 10
    • 79551678672 scopus 로고    scopus 로고
    • Dual-mode phospholipid regulation of human inward rectifying potassium channels
    • Cheng, W.W., D'Avanzo, N., Doyle, D.A. & Nichols, C.G. Dual-mode phospholipid regulation of human inward rectifying potassium channels. Biophys. J. 100, 620-628 (2011).
    • (2011) Biophys. J. , vol.100 , pp. 620-628
    • Cheng, W.W.1    D'Avanzo, N.2    Doyle, D.A.3    Nichols, C.G.4
  • 11
    • 79953190402 scopus 로고    scopus 로고
    • Kir2.6 regulates the surface expression of Kir2.x inward rectifer potassium channels
    • Dassau, L., Conti, L.R., Radeke, C.M., Ptacek, L.J. & Vandenberg, C.A. Kir2.6 regulates the surface expression of Kir2.x inward rectifer potassium channels. J. Biol. Chem. 286, 9526-9541 (2011).
    • (2011) J. Biol. Chem. , vol.286 , pp. 9526-9541
    • Dassau, L.1    Conti, L.R.2    Radeke, C.M.3    Ptacek, L.J.4    Vandenberg, C.A.5
  • 13
    • 0015124692 scopus 로고
    • Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome?
    • Andersen, E.D., Krasilnikoff, P.A. & Overvad, H. Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome? Acta Paediatr. Scand. 60, 559-564 (1971).
    • (1971) Acta Paediatr. Scand. , vol.60 , pp. 559-564
    • Andersen, E.D.1    Krasilnikoff, P.A.2    Overvad, H.3
  • 14
    • 0036724842 scopus 로고    scopus 로고
    • KCNJ2 mutation results in Andersen syndrome with sex-specifc cardiac and skeletal muscle phenotypes
    • Andelfnger, G. et al. KCNJ2 mutation results in Andersen syndrome with sex-specifc cardiac and skeletal muscle phenotypes. Am. J. Hum. Genet. 71, 663-668 (2002).
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 663-668
    • Andelfnger, G.1
  • 16
    • 78649508578 scopus 로고    scopus 로고
    • MaCH: Using sequence and genotype data to estimate haplotypes and unobserved genotypes
    • Li, Y., Willer, C.J., Ding, J., Scheet, P. & Abecasis, G.R. MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet. Epidemiol. 34, 816-834 (2010).
    • (2010) Genet. Epidemiol. , vol.34 , pp. 816-834
    • Li, Y.1    Willer, C.J.2    Ding, J.3    Scheet, P.4    Abecasis, G.R.5
  • 17
    • 71149105110 scopus 로고    scopus 로고
    • Genetic structure of the Han Chinese population revealed by genome-wide SNP variation
    • Chen, J. et al. Genetic structure of the Han Chinese population revealed by genome-wide SNP variation. Am. J. Hum. Genet. 85, 775-785 (2009).
    • (2009) Am. J. Hum. Genet. , vol.85 , pp. 775-785
    • Chen, J.1
  • 18
    • 13444269543 scopus 로고    scopus 로고
    • Haploview: Analysis and visualization of LD and haplotype maps
    • DOI 10.1093/bioinformatics/bth457
    • Barrett, J.C., Fry, B., Maller, J. & Daly, M.J. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21, 263-265 (2005). (Pubitemid 40202029)
    • (2005) Bioinformatics , vol.21 , Issue.2 , pp. 263-265
    • Barrett, J.C.1    Fry, B.2    Maller, J.3    Daly, M.J.4
  • 19
    • 77956586071 scopus 로고    scopus 로고
    • LocusZoom: Regional visualization of genome-wide association scan results
    • Pruim, R.J. et al. LocusZoom: regional visualization of genome-wide association scan results. Bioinformatics 26, 2336-2337 (2010).
    • (2010) Bioinformatics , vol.26 , pp. 2336-2337
    • Pruim, R.J.1
  • 20
    • 77957232748 scopus 로고    scopus 로고
    • Genevar: A database and Java application for the analysis and visualization of SNP-gene associations in eQTL studies
    • Yang, T.P. et al. Genevar: a database and Java application for the analysis and visualization of SNP-gene associations in eQTL studies. Bioinformatics 26, 2474-2476 (2010).
    • (2010) Bioinformatics , vol.26 , pp. 2474-2476
    • Yang, T.P.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.