메뉴 건너뛰기




Volumn 5, Issue DEC, 2014, Pages

Lupus risk variants in the PXK locus alter B-cell receptor internalization

(45)  Vaughn, Samuel E a,b   Foley, Corinne c   Shen, Nan a,f   Harley, Isaac T W a,b   Zoller, Erin b   Magnusen, Albert F b   Williams, Adrienne H d   Ziegler, Julie T d   Comeau, Mary E d   Marion, Miranda C d   Glenn, Stuart B e   Adler, Adam e   Nath, Swapan e   Stevens, Anne M g,h   Freedman, Barry I d   Tsao, Betty P i   Jacob, Chaim O j   Kamen, Diane L k   Brown, Elizabeth E l,m   Gilkeson, Gary S k   more..


Author keywords

B cells; BCR; Fine mapping; Lupus; PXK

Indexed keywords

B LYMPHOCYTE RECEPTOR; PXK PROTEIN; SHORT HAIRPIN RNA; SORTING NEXIN; UNCLASSIFIED DRUG; EPIDERMAL GROWTH FACTOR RECEPTOR;

EID: 84917727211     PISSN: None     EISSN: 16648021     Source Type: Journal    
DOI: 10.3389/fgene.2014.00450     Document Type: Article
Times cited : (26)

References (57)
  • 1
    • 84865473936 scopus 로고    scopus 로고
    • Genetic susceptibility to lupus: the biological basis of genetic risk found in B cell signaling pathways
    • S.E. Vaughn, L.C. Kottyan, M.E. Munroe, and J.B. Harley, Genetic susceptibility to lupus: the biological basis of genetic risk found in B cell signaling pathways. Journal of Leukocyte Biology 92 (2012) 577-591.
    • (2012) Journal of Leukocyte Biology , vol.92 , pp. 577-591
    • Vaughn, S.E.1    Kottyan, L.C.2    Munroe, M.E.3    Harley, J.B.4
  • 5
    • 33748461590 scopus 로고    scopus 로고
    • The Phox (PX) domain proteins and membrane traffic.
    • L.-F. Seet, and W. Hong, The Phox (PX) domain proteins and membrane traffic. Biochim Biophys Acta 1761 (2006) 878-896.
    • (2006) Biochim Biophys Acta , vol.1761 , pp. 878-896
    • Seet, L.-F.1    Hong, W.2
  • 6
    • 0035893581 scopus 로고    scopus 로고
    • The Phox homology (PX) domain, a new player in phosphoinositide signalling
    • Y. Xu, L.F. Seet, B. Hanson, and W. Hong, The Phox homology (PX) domain, a new player in phosphoinositide signalling. Biochem J 360 (2001) 513-530.
    • (2001) Biochem J , vol.360 , pp. 513-530
    • Xu, Y.1    Seet, L.F.2    Hanson, B.3    Hong, W.4
  • 9
    • 77949381391 scopus 로고    scopus 로고
    • Characterization of PXK as a protein involved in epidermal growth factor receptor trafficking.
    • H. Takeuchi, T. Takeuchi, J. Gao, L.C. Cantley, and M. Hirata, Characterization of PXK as a protein involved in epidermal growth factor receptor trafficking. Mol Cell Biol 30 (2010) 1689-1702.
    • (2010) Mol Cell Biol , vol.30 , pp. 1689-1702
    • Takeuchi, H.1    Takeuchi, T.2    Gao, J.3    Cantley, L.C.4    Hirata, M.5
  • 10
    • 84867230859 scopus 로고    scopus 로고
    • The PtdIns3P-binding protein Phafin 2 mediates epidermal growth factor receptor degradation by promoting endosome fusion.
    • N.M. Pedersen, C. Raiborg, A. Brech, E. Skarpen, I. Roxrud, H.W. Platta, K. Liestøl, and H. Stenmark, The PtdIns3P-binding protein Phafin 2 mediates epidermal growth factor receptor degradation by promoting endosome fusion. Traffic 13 (2012) 1547-1563.
    • (2012) Traffic , vol.13 , pp. 1547-1563
    • Pedersen, N.M.1    Raiborg, C.2    Brech, A.3    Skarpen, E.4    Roxrud, I.5    Platta, H.W.6    Liestøl, K.7    Stenmark, H.8
  • 12
    • 80053896562 scopus 로고    scopus 로고
    • Integrating autoimmune risk loci with gene-expression data identifies specific pathogenic immune cell subsets.
    • X. Hu, H. Kim, E. Stahl, R. Plenge, M. Daly, and S. Raychaudhuri, Integrating autoimmune risk loci with gene-expression data identifies specific pathogenic immune cell subsets. American journal of human genetics 89 (2011) 496-506.
    • (2011) American journal of human genetics , vol.89 , pp. 496-506
    • Hu, X.1    Kim, H.2    Stahl, E.3    Plenge, R.4    Daly, M.5    Raychaudhuri, S.6
  • 13
    • 13544259968 scopus 로고    scopus 로고
    • B cell selection and susceptibility to autoimmunity.
    • C.M. Grimaldi, R. Hicks, and B. Diamond, B cell selection and susceptibility to autoimmunity. J Immunol 174 (2005) 1775-1781.
    • (2005) J Immunol , vol.174 , pp. 1775-1781
    • Grimaldi, C.M.1    Hicks, R.2    Diamond, B.3
  • 15
    • 0031882091 scopus 로고    scopus 로고
    • A new role for B cells in systemic autoimmunity: B cells promote spontaneous T cell activation in MRL-lpr/lpr mice.
    • O. Chan, and M.J. Shlomchik, A new role for B cells in systemic autoimmunity: B cells promote spontaneous T cell activation in MRL-lpr/lpr mice. Journal of immunology 160 (1998) 51-9.
    • (1998) Journal of immunology , vol.160 , pp. 51-59
    • Chan, O.1    Shlomchik, M.J.2
  • 16
    • 0033214474 scopus 로고    scopus 로고
    • B cells are required for lupus nephritis in the polygenic, Fas-intact MRL model of systemic autoimmunity
    • O.T. Chan, M.P. Madaio, and M.J. Shlomchik, B cells are required for lupus nephritis in the polygenic, Fas-intact MRL model of systemic autoimmunity. Journal of immunology 163 (1999) 3592-6.
    • (1999) Journal of immunology , vol.163 , pp. 3592-3596
    • Chan, O.T.1    Madaio, M.P.2    Shlomchik, M.J.3
  • 17
    • 80054928885 scopus 로고    scopus 로고
    • Endocytosed BCRs sequentially regulate MAPK and Akt signaling pathways from intracellular compartments
    • A. Chaturvedi, R. Martz, D. Dorward, M. Waisberg, and S.K. Pierce, Endocytosed BCRs sequentially regulate MAPK and Akt signaling pathways from intracellular compartments. Nat Immunol (2011) 1-9.
    • (2011) Nat Immunol , pp. 1-9
    • Chaturvedi, A.1    Martz, R.2    Dorward, D.3    Waisberg, M.4    Pierce, S.K.5
  • 19
    • 44649161194 scopus 로고    scopus 로고
    • The B cell receptor governs the subcellular location of Toll-like receptor 9 leading to hyperresponses to DNA-containing antigens.
    • A. Chaturvedi, D. Dorward, and S.K. Pierce, The B cell receptor governs the subcellular location of Toll-like receptor 9 leading to hyperresponses to DNA-containing antigens. Immunity 28 (2008) 799-809.
    • (2008) Immunity , vol.28 , pp. 799-809
    • Chaturvedi, A.1    Dorward, D.2    Pierce, S.K.3
  • 22
    • 0031229830 scopus 로고    scopus 로고
    • Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus.
    • M.C. Hochberg, Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis and Rheumatism 40 (1997) 1725.
    • (1997) Arthritis and Rheumatism , vol.40 , pp. 1725
    • Hochberg, M.C.1
  • 24
    • 0033930943 scopus 로고    scopus 로고
    • Estimation of admixture and detection of linkage in admixed populations by a Bayesian approach: application to African-American populations.
    • P.M. McKeigue, J.R. Carpenter, E.J. Parra, and M.D. Shriver, Estimation of admixture and detection of linkage in admixed populations by a Bayesian approach: application to African-American populations. Annals of human genetics 64 (2000) 171-86.
    • (2000) Annals of human genetics , vol.64 , pp. 171-186
    • McKeigue, P.M.1    Carpenter, J.R.2    Parra, E.J.3    Shriver, M.D.4
  • 25
    • 33746512512 scopus 로고    scopus 로고
    • Principal components analysis corrects for stratification in genome-wide association studies
    • A.L. Price, N.J. Patterson, R.M. Plenge, M.E. Weinblatt, N.A. Shadick, and D. Reich, Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 38 (2006) 904-9.
    • (2006) Nat Genet , vol.38 , 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
  • 29
    • 42949172329 scopus 로고    scopus 로고
    • A panel of ancestry informative markers for estimating individual biogeographical ancestry and admixture from four continents: utility and applications.
    • I. Halder, M. Shriver, M. Thomas, J.R. Fernandez, and T. Frudakis, A panel of ancestry informative markers for estimating individual biogeographical ancestry and admixture from four continents: utility and applications. Human mutation 29 (2008) 648-58.
    • (2008) Human mutation , vol.29 , pp. 648-658
    • Halder, I.1    Shriver, M.2    Thomas, M.3    Fernandez, J.R.4    Frudakis, T.5
  • 30
    • 85048370129 scopus 로고    scopus 로고
    • L.C. Kottyan, E.E. Zoller, J. Bene, X. Lu, J.A. Kelly, A.M. Rupert, C.J. Lessard, S.E. Vaughn, M. Marion, M.T. Weirauch, B. Namjou, A. Adler, A. Rasmussen, S. Glenn, C.G. Montgomery, G.M. Hirschfield, G. Xie, C. Coltescu, C. Amos, H. Li, J.A. Ice, S.K. Nath, X. Mariette, S. Bowman, U.K.P.S.s.S.R. for, M. Rischmueller, S. Lester, J.G. Brun, L.G. Goransson, E. Harboe, R. Omdal, D.S. Cunninghame-Graham, T. Vyse, C. Miceli-Richard, M.T. Brennan, J.A. Lessard, M. Wahren-Herlenius, M. Kvarnstrom, G.G. Illei, T. Witte, R. Jonsson, P. Eriksson, G. Nordmark, W.F. Ng, U.K.P.S.s.S.R. for, J.M. Anaya, N.L. Rhodus, B.M. Segal, J.T. Merrill, J.A. James, J.M. Guthridge, R. Hal Scofield, M. Alarcon-Riquelme, S.C. Bae, S.A. Boackle, L.A. Criswell, G. Gilkeson, D.L. Kamen, C.O. Jacob, R. Kimberly, E. Brown, J. Edberg, G.S. Alarcon, J.D. Reveille, L.M. Vila, M. Petri, R. Ramsey-Goldman, B.I. Freedman, T. Niewold, A.M. Stevens, B.P. Tsao, J. Ying, M.D. Mayes, O.Y. Gorlova, W. Wakeland, T. Radstake, E. Martin, J. Martin, K. Siminovitch, K.L. Moser Sivils, P.M. Gaffney, C.D. Langefeld, J.B. Harley, and K.M. Kaufman, The IRF5-TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share. Hum. Mol. Genet. (2014).
  • 32
    • 34347344976 scopus 로고    scopus 로고
    • A new multipoint method for genome-wide association studies by imputation of genotypes.
    • J. Marchini, B. Howie, S. Myers, G. McVean, and P. Donnelly, A new multipoint method for genome-wide association studies by imputation of genotypes. Nat Genet 39 (2007) 906-13.
    • (2007) Nat Genet , vol.39 , pp. 906-913
    • Marchini, J.1    Howie, B.2    Myers, S.3    McVean, G.4    Donnelly, P.5
  • 33
    • 70949106022 scopus 로고    scopus 로고
    • Haploview: Visualization and analysis of SNP genotype data.
    • pdb ip71
    • J.C. Barrett, Haploview: Visualization and analysis of SNP genotype data. Cold Spring Harbor protocols 2009 (2009) pdb ip71.
    • (2009) Cold Spring Harbor protocols , vol.2009
    • Barrett, J.C.1
  • 34
    • 13444269543 scopus 로고    scopus 로고
    • Haploview: analysis and visualization of LD and haplotype maps.
    • J.C. Barrett, B. Fry, J. Maller, and M.J. Daly, Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21 (2005) 263-5.
    • (2005) Bioinformatics , vol.21 , pp. 263-265
    • Barrett, J.C.1    Fry, B.2    Maller, J.3    Daly, M.J.4
  • 36
    • 70349303959 scopus 로고    scopus 로고
    • Bayesian statistical methods for genetic association studies.
    • M. Stephens, and D.J. Balding, Bayesian statistical methods for genetic association studies. Nature reviews. Genetics 10 (2009) 681-90.
    • (2009) Nature reviews. Genetics , vol.10 , pp. 681-690
    • Stephens, M.1    Balding, D.J.2
  • 40
    • 84855174922 scopus 로고    scopus 로고
    • Performance of genotype imputations using data from the 1000 Genomes Project.
    • Y.J. Sung, L. Wang, T. Rankinen, C. Bouchard, and D.C. Rao, Performance of genotype imputations using data from the 1000 Genomes Project. Human heredity 73 (2012) 18-25.
    • (2012) Human heredity , vol.73 , pp. 18-25
    • Sung, Y.J.1    Wang, L.2    Rankinen, T.3    Bouchard, C.4    Rao, D.C.5
  • 41
    • 84873873911 scopus 로고    scopus 로고
    • On combining reference data to improve imputation accuracy.
    • J. Chen, J.G. Zhang, J. Li, Y.F. Pei, and H.W. Deng, On combining reference data to improve imputation accuracy. PloS one 8 (2013) e55600.
    • (2013) PloS one , vol.8
    • Chen, J.1    Zhang, J.G.2    Li, J.3    Pei, Y.F.4    Deng, H.W.5
  • 42
    • 12244264435 scopus 로고    scopus 로고
    • Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits.
    • S. Purcell, S.S. Cherny, and P.C. Sham, Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics 19 (2003) 149-150.
    • (2003) Bioinformatics , vol.19 , pp. 149-150
    • Purcell, S.1    Cherny, S.S.2    Sham, P.C.3
  • 43
    • 0035710746 scopus 로고    scopus 로고
    • Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method.
    • K.J. Livak, and T.D. Schmittgen, Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 25 (2001) 402-8.
    • (2001) Methods , vol.25 , pp. 402-408
    • Livak, K.J.1    Schmittgen, T.D.2
  • 44
    • 73649113139 scopus 로고    scopus 로고
    • Vav and Rac activation in B cell antigen receptor endocytosis involves Vav recruitment to the adapter protein LAB.
    • S. Malhotra, S. Kovats, W. Zhang, and K.M. Coggeshall, Vav and Rac activation in B cell antigen receptor endocytosis involves Vav recruitment to the adapter protein LAB. J Biol Chem 284 (2009) 36202-36212.
    • (2009) J Biol Chem , vol.284 , pp. 36202-36212
    • Malhotra, S.1    Kovats, S.2    Zhang, W.3    Coggeshall, K.M.4
  • 45
    • 69949135619 scopus 로고    scopus 로고
    • B cell antigen receptor endocytosis and antigen presentation to T cells require Vav and dynamin.
    • S. Malhotra, S. Kovats, W. Zhang, and K.M. Coggeshall, B cell antigen receptor endocytosis and antigen presentation to T cells require Vav and dynamin. J Biol Chem 284 (2009) 24088-24097.
    • (2009) J Biol Chem , vol.284 , pp. 24088-24097
    • Malhotra, S.1    Kovats, S.2    Zhang, W.3    Coggeshall, K.M.4
  • 46
    • 84863845193 scopus 로고    scopus 로고
    • Genotype imputation with thousands of genomes.
    • B. Howie, J. Marchini, and M. Stephens, Genotype imputation with thousands of genomes. G3 (Bethesda) 1 (2011) 457-470.
    • (2011) G3 (Bethesda) , vol.1 , pp. 457-470
    • Howie, B.1    Marchini, J.2    Stephens, M.3
  • 48
    • 85048357841 scopus 로고    scopus 로고
    • N.Y. Oparina, A.M. Delgado-Vega, M. Martinez-Bueno, C. Magro-Checa, C. Fernández, R.O. Castro, B.A. Pons-Estel, S. D'alfonso, G.D. Sebastiani, T. Witte, B.R. Lauwerys, E. Endreffy, L. Kovács, A. Escudero, C. López-Pedrera, C. Vasconcelos, B.M. da Silva, J. Frostegård, L. Truedsson, J. Martin, E. Raya, N. Ortego-Centeno, M. de Los Angeles Aguirre, E. de Ramón Garrido, M.-J.C. Palma, M.E. Alarcón-Riquelme, and S.V. Kozyrev, PXK locus in systemic lupus erythematosus: fine mapping and functional analysis reveals novel susceptibility gene ABHD6. Ann Rheum Dis (2014). [49] R.R. Graham, C. Cotsapas, L. Davies, R. Hackett, C.J. Lessard, J.M. Leon, N.P. Burtt, C. Guiducci, M. Parkin, C. Gates, R.M. Plenge, T.W. Behrens, J.E. Wither, J.D. Rioux, P.R. Fortin, D.C. Graham, A.K. Wong, T.J. Vyse, M.J. Daly, D. Altshuler, K.L. Moser, and P.M. Gaffney, Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. Nat Genet 40 (2008) 1059-61.
  • 50
    • 82255192363 scopus 로고    scopus 로고
    • S.M. Al-Mayouf, A. Sunker, R. Abdwani, S.A. Abrawi, F. Almurshedi, N. Alhashmi, A. Al Sonbul, W. Sewairi, A. Qari, E. Abdallah, M. Al-Owain, S. Al Motywee, H. Al-Rayes, M. Hashem, H. Khalak, L. Al-Jebali, and F.S. Alkuraya, Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus. Nat Genet (2011)
  • 53
    • 37149013708 scopus 로고    scopus 로고
    • A Comprehensive Profile of Brain Enzymes that Hydrolyze the Endocannabinoid 2-Arachidonoylglycerol
    • J.L. Blankman, G.M. Simon, and B.F. Cravatt, A Comprehensive Profile of Brain Enzymes that Hydrolyze the Endocannabinoid 2-Arachidonoylglycerol. Chemistry & Biology 14 (2007) 1347-1356.
    • (2007) Chemistry & Biology , vol.14 , pp. 1347-1356
    • Blankman, J.L.1    Simon, G.M.2    Cravatt, B.F.3
  • 55
    • 84886389627 scopus 로고    scopus 로고
    • Implication of the anti-inflammatory bioactive lipid prostaglandin D2-glycerol ester in the control of macrophage activation and inflammation by ABHD6.
    • M. Alhouayek, J. Masquelier, P.D. Cani, D.M. Lambert, and G.G. Muccioli, Implication of the anti-inflammatory bioactive lipid prostaglandin D2-glycerol ester in the control of macrophage activation and inflammation by ABHD6. Proc Natl Acad Sci USA 110 (2013) 17558-17563.
    • (2013) Proc Natl Acad Sci USA , vol.110 , pp. 17558-17563
    • Alhouayek, M.1    Masquelier, J.2    Cani, P.D.3    Lambert, D.M.4    Muccioli, G.G.5
  • 56
    • 84875409960 scopus 로고    scopus 로고
    • Selective Inhibition of Alpha/Beta-Hydrolase Domain 6 Attenuates Neurodegeneration, Alleviates Blood Brain Barrier Breakdown, and Improves Functional Recovery in a Mouse Model of Traumatic Brain Injury.
    • F. Tchantchou, and Y. Zhang, Selective Inhibition of Alpha/Beta-Hydrolase Domain 6 Attenuates Neurodegeneration, Alleviates Blood Brain Barrier Breakdown, and Improves Functional Recovery in a Mouse Model of Traumatic Brain Injury. Journal of Neurotrauma 30 (2013) 565-579.
    • (2013) Journal of Neurotrauma , vol.30 , pp. 565-579
    • Tchantchou, F.1    Zhang, Y.2
  • 57
    • 84877144492 scopus 로고    scopus 로고
    • Endocannabinoid metabolism in the prefrontal cortex in schizophrenia.
    • D.W. Volk, B.I. Siegel, C.D. Verrico, and D.A. Lewis, Endocannabinoid metabolism in the prefrontal cortex in schizophrenia. Schizophrenia Research 147 (2013) 53-57.
    • (2013) Schizophrenia Research , vol.147 , pp. 53-57
    • Volk, D.W.1    Siegel, B.I.2    Verrico, C.D.3    Lewis, D.A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.