메뉴 건너뛰기




Volumn 13, Issue 8, 2017, Pages

Rare coding variants pinpoint genes that control human hematological traits

Author keywords

[No Author keywords available]

Indexed keywords

D DIMER; INTERLEUKIN 33; PLASMINOGEN; FIBRIN DEGRADATION PRODUCT; FIBRIN FRAGMENT D;

EID: 85028882963     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1006925     Document Type: Article
Times cited : (36)

References (55)
  • 1
    • 84995752422 scopus 로고    scopus 로고
    • The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease
    • 2786325
    • Astle WJ, Elding H, Jiang T, Allen D, Ruklisa D, Mann AL, et al. The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. Cell. 2016;167(5):1415–29 e19. doi: 10.1016/j.cell.2016.10.042 27863252.
    • (2016) Cell , vol.167 , Issue.5 , pp. 1415-29 e19
    • Astle, W.J.1    Elding, H.2    Jiang, T.3    Allen, D.4    Ruklisa, D.5    Mann, A.L.6
  • 2
    • 33645103550 scopus 로고    scopus 로고
    • Sequence variations in PCSK9, low LDL, and protection against coronary heart disease
    • 1655452
    • Cohen JC, Boerwinkle E, Mosley TH, Jr.Hobbs HH, Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N Engl J Med. 2006;354(12):1264–72. doi: 10.1056/NEJMoa054013 16554528.
    • (2006) N Engl J Med , vol.354 , Issue.12 , pp. 1264-1272
    • Cohen, J.C.1    Boerwinkle, E.2    Mosley, T.H.3    Hobbs, H.H.4
  • 3
    • 3843056691 scopus 로고    scopus 로고
    • Multiple rare alleles contribute to low plasma levels of HDL cholesterol
    • 1529767
    • Cohen JC, Kiss RS, Pertsemlidis A, Marcel YL, McPherson R, Hobbs HH, Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science. 2004;305(5685):869–72. doi: 10.1126/science.1099870 15297675.
    • (2004) Science , vol.305 , Issue.5685 , pp. 869-872
    • Cohen, J.C.1    Kiss, R.S.2    Pertsemlidis, A.3    Marcel, Y.L.4    McPherson, R.5    Hobbs, H.H.6
  • 4
    • 84923082408 scopus 로고    scopus 로고
    • Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction
    • 25487149,; PubMed Central PMCID: PMCPMC4319990
    • Do R, Stitziel NO, Won HH, Jorgensen AB, Duga S, Angelica Merlini P, et al. Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. Nature. 2015;518(7537):102–6. doi: 10.1038/nature13917 25487149; PubMed Central PMCID: PMCPMC4319990.
    • (2015) Nature , vol.518 , Issue.7537 , pp. 102-106
    • Do, R.1    Stitziel, N.O.2    Won, H.H.3    Jorgensen, A.B.4    Duga, S.5    Angelica Merlini, P.6
  • 5
    • 84903727023 scopus 로고    scopus 로고
    • Loss-of-function mutations in APOC3, triglycerides, and coronary disease
    • 24941081,; PubMed Central PMCID: PMCPMC4180269
    • Tg, Hdl Working Group of the Exome Sequencing Project NHLBlood ICrosby J, Peloso GM, Auer PL, et al. Loss-of-function mutations in APOC3, triglycerides, and coronary disease. N Engl J Med. 2014;371(1):22–31. doi: 10.1056/NEJMoa1307095 24941081; PubMed Central PMCID: PMCPMC4180269.
    • (2014) N Engl J Med , vol.371 , Issue.1 , pp. 22-31
    • Crosby, J.1    Peloso, G.M.2    Auer, P.L.3
  • 6
    • 85012918562 scopus 로고    scopus 로고
    • Rare and low-frequency coding variants alter human adult height
    • 28146470,; PubMed Central PMCID: PMCPMC5302847
    • Marouli E, Graff M, Medina-Gomez C, Lo KS, Wood AR, Kjaer TR, et al. Rare and low-frequency coding variants alter human adult height. Nature. 2017;542(7640):186–90. doi: 10.1038/nature21039 28146470; PubMed Central PMCID: PMCPMC5302847.
    • (2017) Nature , vol.542 , Issue.7640 , pp. 186-190
    • Marouli, E.1    Graff, M.2    Medina-Gomez, C.3    Lo, K.S.4    Wood, A.R.5    Kjaer, T.R.6
  • 7
    • 84901684867 scopus 로고    scopus 로고
    • Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits
    • 2477745
    • Auer PL, Teumer A, Schick U, O'Shaughnessy A, Lo KS, Chami N, et al. Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits. Nat Genet. 2014. doi: 10.1038/ng.2962 24777453.
    • (2014) Nat Genet
    • Auer, P.L.1    Teumer, A.2    Schick, U.3    O'Shaughnessy, A.4    Lo, K.S.5    Chami, N.6
  • 8
    • 84978055882 scopus 로고    scopus 로고
    • Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits
    • 27399967,; PubMed Central PMCID: PMCPMC5145000
    • Group CCHWMeta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits. Nat Genet. 2016;48(8):867–76. doi: 10.1038/ng.3607 27399967; PubMed Central PMCID: PMCPMC5145000.
    • (2016) Nat Genet , vol.48 , Issue.8 , pp. 867-876
  • 9
    • 84901684867 scopus 로고    scopus 로고
    • Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits
    • 24777453,; PubMed Central PMCID: PMCPMC4050975
    • Auer PL, Teumer A, Schick U, O'Shaughnessy A, Lo KS, Chami N, et al. Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits. Nat Genet. 2014;46(6):629–34. doi: 10.1038/ng.2962 24777453; PubMed Central PMCID: PMCPMC4050975.
    • (2014) Nat Genet , vol.46 , Issue.6 , pp. 629-634
    • Auer, P.L.1    Teumer, A.2    Schick, U.3    O'Shaughnessy, A.4    Lo, K.S.5    Chami, N.6
  • 10
    • 84989952555 scopus 로고    scopus 로고
    • Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals
    • 27346686,; PubMed Central PMCID: PMCPMC5005441
    • Eicher JD, Chami N, Kacprowski T, Nomura A, Chen MH, Yanek LR, et al. Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals. Am J Hum Genet. 2016;99(1):40–55. doi: 10.1016/j.ajhg.2016.05.005 27346686; PubMed Central PMCID: PMCPMC5005441.
    • (2016) Am J Hum Genet , vol.99 , Issue.1 , pp. 40-55
    • Eicher, J.D.1    Chami, N.2    Kacprowski, T.3    Nomura, A.4    Chen, M.H.5    Yanek, L.R.6
  • 11
    • 84989865856 scopus 로고    scopus 로고
    • Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits
    • 27346685,; PubMed Central PMCID: PMCPMC5005438
    • Chami N, Chen MH, Slater AJ, Eicher JD, Evangelou E, Tajuddin SM, et al. Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits. Am J Hum Genet. 2016;99(1):8–21. doi: 10.1016/j.ajhg.2016.05.007 27346685; PubMed Central PMCID: PMCPMC5005438.
    • (2016) Am J Hum Genet , vol.99 , Issue.1 , pp. 8-21
    • Chami, N.1    Chen, M.H.2    Slater, A.J.3    Eicher, J.D.4    Evangelou, E.5    Tajuddin, S.M.6
  • 12
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • 1956159
    • Kumar P, Henikoff S, Ng PC, Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009;4(7):1073–81. doi: 10.1038/nprot.2009.86 19561590.
    • (2009) Nat Protoc , vol.4 , Issue.7 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 13
    • 84878799611 scopus 로고    scopus 로고
    • Predicting functional effect of human missense mutations using PolyPhen-2
    • 23315928,.;Chapter 7:Unit7 20.; PubMed Central PMCID: PMCPMC4480630
    • Adzhubei I, Jordan DM, Sunyaev SR, Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet. 2013;Chapter 7:Unit7 20. doi: 10.1002/0471142905.hg0720s76 23315928; PubMed Central PMCID: PMCPMC4480630.
    • (2013) Curr Protoc Hum Genet
    • Adzhubei, I.1    Jordan, D.M.2    Sunyaev, S.R.3
  • 14
    • 84895858942 scopus 로고    scopus 로고
    • A general framework for estimating the relative pathogenicity of human genetic variants
    • 24487276,; PubMed Central PMCID: PMC3992975
    • Kircher M, Witten DM, Jain P, O'Roak BJ, Cooper GM, Shendure J, A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet. 2014;46(3):310–5. doi: 10.1038/ng.2892 24487276; PubMed Central PMCID: PMC3992975.
    • (2014) Nat Genet , vol.46 , Issue.3 , pp. 310-315
    • Kircher, M.1    Witten, D.M.2    Jain, P.3    O'Roak, B.J.4    Cooper, G.M.5    Shendure, J.6
  • 15
    • 84929120921 scopus 로고    scopus 로고
    • Sirtuin Inhibition Induces Apoptosis-like Changes in Platelets and Thrombocytopenia
    • 25829495,; PubMed Central PMCID: PMCPMC4424360
    • Kumari S, Chaurasia SN, Nayak MK, Mallick RL, Dash D, Sirtuin Inhibition Induces Apoptosis-like Changes in Platelets and Thrombocytopenia. J Biol Chem. 2015;290(19):12290–9. doi: 10.1074/jbc.M114.615948 25829495; PubMed Central PMCID: PMCPMC4424360.
    • (2015) J Biol Chem , vol.290 , Issue.19 , pp. 12290-12299
    • Kumari, S.1    Chaurasia, S.N.2    Nayak, M.K.3    Mallick, R.L.4    Dash, D.5
  • 16
    • 83055161438 scopus 로고    scopus 로고
    • New gene functions in megakaryopoiesis and platelet formation
    • 22139419, Epub 2011/12/06.; PubMed Central PMCID: PMC3335296
    • Gieger C, Radhakrishnan A, Cvejic A, Tang W, Porcu E, Pistis G, et al. New gene functions in megakaryopoiesis and platelet formation. Nature. 2011;480(7376):201–8. Epub 2011/12/06. doi: 10.1038/nature10659 22139419; PubMed Central PMCID: PMC3335296.
    • (2011) Nature , vol.480 , Issue.7376 , pp. 201-208
    • Gieger, C.1    Radhakrishnan, A.2    Cvejic, A.3    Tang, W.4    Porcu, E.5    Pistis, G.6
  • 17
    • 70350345564 scopus 로고    scopus 로고
    • Granulocyte colony-stimulating factor receptor: stimulating granulopoiesis and much more
    • 1969981
    • Liongue C, Wright C, Russell AP, Ward AC, Granulocyte colony-stimulating factor receptor: stimulating granulopoiesis and much more. Int J Biochem Cell Biol. 2009;41(12):2372–5. doi: 10.1016/j.biocel.2009.08.011 19699815.
    • (2009) Int J Biochem Cell Biol , vol.41 , Issue.12 , pp. 2372-2375
    • Liongue, C.1    Wright, C.2    Russell, A.P.3    Ward, A.C.4
  • 18
    • 77957113600 scopus 로고    scopus 로고
    • A large-scale, consortium-based genomewide association study of asthma
    • 20860503,; PubMed Central PMCID: PMCPMC4260321
    • Moffatt MF, Gut IG, Demenais F, Strachan DP, Bouzigon E, Heath S, et al. A large-scale, consortium-based genomewide association study of asthma. N Engl J Med. 2010;363(13):1211–21. doi: 10.1056/NEJMoa0906312 20860503; PubMed Central PMCID: PMCPMC4260321.
    • (2010) N Engl J Med , vol.363 , Issue.13 , pp. 1211-1221
    • Moffatt, M.F.1    Gut, I.G.2    Demenais, F.3    Strachan, D.P.4    Bouzigon, E.5    Heath, S.6
  • 19
    • 84881026639 scopus 로고    scopus 로고
    • A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci
    • 23817569,; PubMed Central PMCID: PMCPMC3753407
    • Hinds DA, McMahon G, Kiefer AK, Do CB, Eriksson N, Evans DM, et al. A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. Nat Genet. 2013;45(8):907–11. doi: 10.1038/ng.2686 23817569; PubMed Central PMCID: PMCPMC3753407.
    • (2013) Nat Genet , vol.45 , Issue.8 , pp. 907-911
    • Hinds, D.A.1    McMahon, G.2    Kiefer, A.K.3    Do, C.B.4    Eriksson, N.5    Evans, D.M.6
  • 20
    • 84874640154 scopus 로고    scopus 로고
    • Genome-wide association study link novel loci to endometriosis
    • 23472165,.; ():.; PubMed Central PMCID: PMCPMC3589333
    • Albertsen HM, Chettier R, Farrington P, Ward K, Genome-wide association study link novel loci to endometriosis. PLoS One. 2013;8(3):e58257. 10.1371/journal.pone.0058257. doi: 10.1371/journal.pone.0058257 23472165; PubMed Central PMCID: PMCPMC3589333.
    • (2013) PLoS One , vol.8 , Issue.3 , pp. e58257
    • Albertsen, H.M.1    Chettier, R.2    Farrington, P.3    Ward, K.4
  • 21
    • 85016564329 scopus 로고    scopus 로고
    • A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma
    • 2827307
    • Smith D, Helgason H, Sulem P, Bjornsdottir US, Lim AC, Sveinbjornsson G, et al. A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma. PLoS Genet. 2017;13(3):e1006659. doi: 10.1371/journal.pgen.1006659 28273074.
    • (2017) PLoS Genet , vol.13 , Issue.3 , pp. e1006659
    • Smith, D.1    Helgason, H.2    Sulem, P.3    Bjornsdottir, U.S.4    Lim, A.C.5    Sveinbjornsson, G.6
  • 22
    • 0021146897 scopus 로고
    • Constitutional hypoplastic anemia associated with familial "bird-headed" dwarfism (Seckel syndrome)
    • 646547
    • Lilleyman JS, Constitutional hypoplastic anemia associated with familial "bird-headed" dwarfism (Seckel syndrome). Am J Pediatr Hematol Oncol. 1984;6(2):207–9. 6465473.
    • (1984) Am J Pediatr Hematol Oncol , vol.6 , Issue.2 , pp. 207-209
    • Lilleyman, J.S.1
  • 23
    • 77949502698 scopus 로고    scopus 로고
    • Red cell distribution width and mortality in older adults: a meta-analysis
    • 19880817,; PubMed Central PMCID: PMCPMC2822283
    • Patel KV, Semba RD, Ferrucci L, Newman AB, Fried LP, Wallace RB, et al. Red cell distribution width and mortality in older adults: a meta-analysis. J Gerontol A Biol Sci Med Sci. 2010;65(3):258–65. doi: 10.1093/gerona/glp163 19880817; PubMed Central PMCID: PMCPMC2822283.
    • (2010) J Gerontol A Biol Sci Med Sci , vol.65 , Issue.3 , pp. 258-265
    • Patel, K.V.1    Semba, R.D.2    Ferrucci, L.3    Newman, A.B.4    Fried, L.P.5    Wallace, R.B.6
  • 24
    • 84903743893 scopus 로고    scopus 로고
    • Loss-of-function mutations in APOC3 and risk of ischemic vascular disease
    • 2494108
    • Jorgensen AB, Frikke-Schmidt R, Nordestgaard BG, Tybjaerg-Hansen A, Loss-of-function mutations in APOC3 and risk of ischemic vascular disease. N Engl J Med. 2014;371(1):32–41. doi: 10.1056/NEJMoa1308027 24941082.
    • (2014) N Engl J Med , vol.371 , Issue.1 , pp. 32-41
    • Jorgensen, A.B.1    Frikke-Schmidt, R.2    Nordestgaard, B.G.3    Tybjaerg-Hansen, A.4
  • 25
    • 84897406127 scopus 로고    scopus 로고
    • A promoter-level mammalian expression atlas
    • 24670764,; PubMed Central PMCID: PMCPMC4529748
    • Forrest AR, Kawaji H, Rehli M, et al. A promoter-level mammalian expression atlas. Nature. 2014;507(7493):462–70. doi: 10.1038/nature13182 24670764; PubMed Central PMCID: PMCPMC4529748.
    • (2014) Nature , vol.507 , Issue.7493 , pp. 462-470
    • Forrest, A.R.1    Kawaji, H.2    Rehli, M.3
  • 26
    • 33846900261 scopus 로고    scopus 로고
    • Altered expression and endocytic function of CD205 in human dendritic cells, and detection of a CD205-DCL-1 fusion protein upon dendritic cell maturation
    • 17163964,; PubMed Central PMCID: PMCPMC2265885
    • Butler M, Morel AS, Jordan WJ, Eren E, Hue S, Shrimpton RE, et al. Altered expression and endocytic function of CD205 in human dendritic cells, and detection of a CD205-DCL-1 fusion protein upon dendritic cell maturation. Immunology. 2007;120(3):362–71. doi: 10.1111/j.1365-2567.2006.02512.x 17163964; PubMed Central PMCID: PMCPMC2265885.
    • (2007) Immunology , vol.120 , Issue.3 , pp. 362-371
    • Butler, M.1    Morel, A.S.2    Jordan, W.J.3    Eren, E.4    Hue, S.5    Shrimpton, R.E.6
  • 27
    • 0141706658 scopus 로고    scopus 로고
    • Hodgkin's lymphoma cell lines express a fusion protein encoded by intergenically spliced mRNA for the multilectin receptor DEC-205 (CD205) and a novel C-type lectin receptor DCL-1
    • 1282419
    • Kato M, Khan S, Gonzalez N, O'Neill BP, McDonald KJ, Cooper BJ, et al. Hodgkin's lymphoma cell lines express a fusion protein encoded by intergenically spliced mRNA for the multilectin receptor DEC-205 (CD205) and a novel C-type lectin receptor DCL-1. J Biol Chem. 2003;278(36):34035–41. doi: 10.1074/jbc.M303112200 12824192.
    • (2003) J Biol Chem , vol.278 , Issue.36 , pp. 34035-34041
    • Kato, M.1    Khan, S.2    Gonzalez, N.3    O'Neill, B.P.4    McDonald, K.J.5    Cooper, B.J.6
  • 28
    • 0025364470 scopus 로고
    • Purification and characterization of a major phosphatidylserine-binding phosphoprotein from human platelets
    • 2390065,; PubMed Central PMCID: PMCPMC1131648
    • Burgener R, Wolf M, Ganz T, Baggiolini M, Purification and characterization of a major phosphatidylserine-binding phosphoprotein from human platelets. Biochem J. 1990;269(3):729–34. 2390065; PubMed Central PMCID: PMCPMC1131648.
    • (1990) Biochem J , vol.269 , Issue.3 , pp. 729-734
    • Burgener, R.1    Wolf, M.2    Ganz, T.3    Baggiolini, M.4
  • 29
    • 70350513338 scopus 로고    scopus 로고
    • The platelet protein kinase C substrate pleckstrin binds directly to SDPR protein
    • 1985268
    • Baig A, Bao X, Wolf M, Haslam RJ, The platelet protein kinase C substrate pleckstrin binds directly to SDPR protein. Platelets. 2009;20(7):446–57. doi: 10.3109/09537100903137314 19852682.
    • (2009) Platelets , vol.20 , Issue.7 , pp. 446-457
    • Baig, A.1    Bao, X.2    Wolf, M.3    Haslam, R.J.4
  • 30
    • 80055024880 scopus 로고    scopus 로고
    • Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma
    • 22001757,; PubMed Central PMCID: PMCPMC3482372
    • Chambers JC, Zhang W, Sehmi J, Li X, Wass MN, Van der Harst P, et al. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. Nat Genet. 2011;43(11):1131–8. doi: 10.1038/ng.970 22001757; PubMed Central PMCID: PMCPMC3482372.
    • (2011) Nat Genet , vol.43 , Issue.11 , pp. 1131-1138
    • Chambers, J.C.1    Zhang, W.2    Sehmi, J.3    Li, X.4    Wass, M.N.5    Van der Harst, P.6
  • 31
    • 84907916620 scopus 로고    scopus 로고
    • Transcriptional diversity during lineage commitment of human blood progenitors
    • 25258084,..; ():.; PubMed Central PMCID: PMCPMC4254742
    • Chen L, Kostadima M, Martens JH, Canu G, Garcia SP, Turro E, et al. Transcriptional diversity during lineage commitment of human blood progenitors. Science. 2014;345(6204):1251033. doi: 10.1126/science.1251033 25258084; PubMed Central PMCID: PMCPMC4254742.
    • (2014) Science , vol.345 , Issue.6204 , pp. 1251033
    • Chen, L.1    Kostadima, M.2    Martens, J.H.3    Canu, G.4    Garcia, S.P.5    Turro, E.6
  • 32
    • 84904626934 scopus 로고    scopus 로고
    • The role of TMPRSS6/matriptase-2 in iron regulation and anemia
    • 24966834,.;:.; PubMed Central PMCID: PMCPMC4053654
    • Wang CY, Meynard D, Lin HY, The role of TMPRSS6/matriptase-2 in iron regulation and anemia. Front Pharmacol. 2014;5:114. doi: 10.3389/fphar.2014.00114 24966834; PubMed Central PMCID: PMCPMC4053654.
    • (2014) Front Pharmacol , vol.5 , pp. 114
    • Wang, C.Y.1    Meynard, D.2    Lin, H.Y.3
  • 33
    • 84904723183 scopus 로고    scopus 로고
    • Iron-refractory iron deficiency anemia (IRIDA)
    • 25064705,.; (): –, v
    • Heeney MM, Finberg KE, Iron-refractory iron deficiency anemia (IRIDA). Hematol Oncol Clin North Am. 2014;28(4):637–52, v. doi: 10.1016/j.hoc.2014.04.009 25064705.
    • (2014) Hematol Oncol Clin North Am , vol.28 , Issue.4 , pp. 637-652
    • Heeney, M.M.1    Finberg, K.E.2
  • 34
    • 36348973495 scopus 로고    scopus 로고
    • Plasminogen deficiency
    • 1790027
    • Schuster V, Hugle B, Tefs K, Plasminogen deficiency. J Thromb Haemost. 2007;5(12):2315–22. doi: 10.1111/j.1538-7836.2007.02776.x 17900274.
    • (2007) J Thromb Haemost , vol.5 , Issue.12 , pp. 2315-2322
    • Schuster, V.1    Hugle, B.2    Tefs, K.3
  • 35
  • 36
    • 85006240169 scopus 로고    scopus 로고
    • The Unravelling of the Genetic Architecture of Plasminogen Deficiency and its Relation to Thrombotic Disease
    • 27976734,..;:.; PubMed Central PMCID: PMCPMC5157013
    • Martin-Fernandez L, Marco P, Corrales I, Perez R, Ramirez L, Lopez S, et al. The Unravelling of the Genetic Architecture of Plasminogen Deficiency and its Relation to Thrombotic Disease. Sci Rep. 2016;6:39255. doi: 10.1038/srep39255 27976734; PubMed Central PMCID: PMCPMC5157013.
    • (2016) Sci Rep , vol.6 , pp. 39255
    • Martin-Fernandez, L.1    Marco, P.2    Corrales, I.3    Perez, R.4    Ramirez, L.5    Lopez, S.6
  • 37
    • 33751181659 scopus 로고    scopus 로고
    • Molecular and clinical spectrum of type I plasminogen deficiency: A series of 50 patients
    • 1684964
    • Tefs K, Gueorguieva M, Klammt J, Allen CM, Aktas D, Anlar FY, et al. Molecular and clinical spectrum of type I plasminogen deficiency: A series of 50 patients. Blood. 2006;108(9):3021–6. doi: 10.1182/blood-2006-04-017350 16849641.
    • (2006) Blood , vol.108 , Issue.9 , pp. 3021-3026
    • Tefs, K.1    Gueorguieva, M.2    Klammt, J.3    Allen, C.M.4    Aktas, D.5    Anlar, F.Y.6
  • 38
    • 0031878998 scopus 로고    scopus 로고
    • Is plasminogen deficiency a thrombotic risk factor? A study on 23 thrombophilic patients and their family members
    • 968480
    • Demarmels Biasiutti F, Sulzer I, Stucki B, Wuillemin WA, Furlan M, Lammle B, Is plasminogen deficiency a thrombotic risk factor? A study on 23 thrombophilic patients and their family members. Thromb Haemost. 1998;80(1):167–70. 9684804.
    • (1998) Thromb Haemost , vol.80 , Issue.1 , pp. 167-170
    • Demarmels Biasiutti, F.1    Sulzer, I.2    Stucki, B.3    Wuillemin, W.A.4    Furlan, M.5    Lammle, B.6
  • 39
    • 0033623943 scopus 로고    scopus 로고
    • Proteolytic modulation of thrombopoietin activity: comparison of thrombin, plasmin, and urokinase
    • 1089624
    • Reiner AP, Aramaki KM, Proteolytic modulation of thrombopoietin activity: comparison of thrombin, plasmin, and urokinase. Thromb Haemost. 2000;83(6):909–14. 10896248.
    • (2000) Thromb Haemost , vol.83 , Issue.6 , pp. 909-914
    • Reiner, A.P.1    Aramaki, K.M.2
  • 40
    • 0033528761 scopus 로고    scopus 로고
    • Plasmin desensitization of the PAR1 thrombin receptor: kinetics, sites of truncation, and implications for thrombolytic therapy
    • 1019437
    • Kuliopulos A, Covic L, Seeley SK, Sheridan PJ, Helin J, Costello CE, Plasmin desensitization of the PAR1 thrombin receptor: kinetics, sites of truncation, and implications for thrombolytic therapy. Biochemistry. 1999;38(14):4572–85. doi: 10.1021/bi9824792 10194379.
    • (1999) Biochemistry , vol.38 , Issue.14 , pp. 4572-4585
    • Kuliopulos, A.1    Covic, L.2    Seeley, S.K.3    Sheridan, P.J.4    Helin, J.5    Costello, C.E.6
  • 41
    • 2442452711 scopus 로고    scopus 로고
    • Plasmin-mediated activation of platelets occurs by cleavage of protease-activated receptor 4
    • 1497313
    • Quinton TM, Kim S, Derian CK, Jin J, Kunapuli SP, Plasmin-mediated activation of platelets occurs by cleavage of protease-activated receptor 4. J Biol Chem. 2004;279(18):18434–9. doi: 10.1074/jbc.M401431200 14973136.
    • (2004) J Biol Chem , vol.279 , Issue.18 , pp. 18434-18439
    • Quinton, T.M.1    Kim, S.2    Derian, C.K.3    Jin, J.4    Kunapuli, S.P.5
  • 42
    • 81755172551 scopus 로고    scopus 로고
    • Quebec platelet disorder: update on pathogenesis, diagnosis, and treatment
    • 2210227
    • Blavignac J, Bunimov N, Rivard GE, Hayward CP, Quebec platelet disorder: update on pathogenesis, diagnosis, and treatment. Semin Thromb Hemost. 2011;37(6):713–20. doi: 10.1055/s-0031-1291382 22102275.
    • (2011) Semin Thromb Hemost , vol.37 , Issue.6 , pp. 713-720
    • Blavignac, J.1    Bunimov, N.2    Rivard, G.E.3    Hayward, C.P.4
  • 43
    • 84989906739 scopus 로고    scopus 로고
    • Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases
    • 27346689,; PubMed Central PMCID: PMCPMC5005433
    • Tajuddin SM, Schick UM, Eicher JD, Chami N, Giri A, Brody JA, et al. Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases. Am J Hum Genet. 2016;99(1):22–39. doi: 10.1016/j.ajhg.2016.05.003 27346689; PubMed Central PMCID: PMCPMC5005433.
    • (2016) Am J Hum Genet , vol.99 , Issue.1 , pp. 22-39
    • Tajuddin, S.M.1    Schick, U.M.2    Eicher, J.D.3    Chami, N.4    Giri, A.5    Brody, J.A.6
  • 44
    • 84899540947 scopus 로고    scopus 로고
    • Quality control and conduct of genome-wide association meta-analyses
    • 24762786,; PubMed Central PMCID: PMC4083217
    • Winkler TW, Day FR, Croteau-Chonka DC, Wood AR, Locke AE, Magi R, et al. Quality control and conduct of genome-wide association meta-analyses. Nat Protoc. 2014;9(5):1192–212. doi: 10.1038/nprot.2014.071 24762786; PubMed Central PMCID: PMC4083217.
    • (2014) Nat Protoc , vol.9 , Issue.5 , pp. 1192-1212
    • Winkler, T.W.1    Day, F.R.2    Croteau-Chonka, D.C.3    Wood, A.R.4    Locke, A.E.5    Magi, R.6
  • 46
    • 0032076955 scopus 로고    scopus 로고
    • Actin mutations in dilated cardiomyopathy, a heritable form of heart failure
    • 956395
    • Olson TM, Michels VV, Thibodeau SN, Tai YS, Keating MT, Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science. 1998;280(5364):750–2. 9563954.
    • (1998) Science , vol.280 , Issue.5364 , pp. 750-752
    • Olson, T.M.1    Michels, V.V.2    Thibodeau, S.N.3    Tai, Y.S.4    Keating, M.T.5
  • 47
    • 84924060689 scopus 로고    scopus 로고
    • Efficient Bayesian mixed-model analysis increases association power in large cohorts
    • 25642633,; PubMed Central PMCID: PMCPMC4342297
    • Loh PR, Tucker G, Bulik-Sullivan BK, Vilhjalmsson BJ, Finucane HK, Salem RM, et al. Efficient Bayesian mixed-model analysis increases association power in large cohorts. Nat Genet. 2015;47(3):284–90. doi: 10.1038/ng.3190 25642633; PubMed Central PMCID: PMCPMC4342297.
    • (2015) Nat Genet , vol.47 , Issue.3 , pp. 284-290
    • Loh, P.R.1    Tucker, G.2    Bulik-Sullivan, B.K.3    Vilhjalmsson, B.J.4    Finucane, H.K.5    Salem, R.M.6
  • 48
    • 77955894071 scopus 로고    scopus 로고
    • METAL: Fast and efficient meta-analysis of genomewide association scans
    • 20616382, Epub 2010/07/10
    • Willer CJ, Li Y, Abecasis GR, METAL: Fast and efficient meta-analysis of genomewide association scans. Bioinformatics. 2010;26(17):2190–1. Epub 2010/07/10. doi: 10.1093/bioinformatics/btq340 20616382.
    • (2010) Bioinformatics , vol.26 , Issue.17 , pp. 2190-2191
    • Willer, C.J.1    Li, Y.2    Abecasis, G.R.3
  • 49
    • 0002572171 scopus 로고
    • Epidemiological approaches to heart disease: the Framingham Study
    • 14819398, Epub 1951/03/01.; PubMed Central PMCID: PMC1525365
    • Dawber TR, Meadors GF, Moore FE, Jr.Epidemiological approaches to heart disease: the Framingham Study. Am J Public Health Nations Health. 1951;41(3):279–81. Epub 1951/03/01. 14819398; PubMed Central PMCID: PMC1525365.
    • (1951) Am J Public Health Nations Health , vol.41 , Issue.3 , pp. 279-281
    • Dawber, T.R.1    Meadors, G.F.2    Moore, F.E.3
  • 50
    • 84880062762 scopus 로고    scopus 로고
    • Best practices and joint calling of the HumanExome BeadChip: the CHARGE Consortium
    • 23874508,..; ():.; PubMed Central PMCID: PMCPMC3709915
    • Grove ML, Yu B, Cochran BJ, Haritunians T, Bis JC, Taylor KD, et al. Best practices and joint calling of the HumanExome BeadChip: the CHARGE Consortium. PLoS One. 2013;8(7):e68095. doi: 10.1371/journal.pone.0068095 23874508; PubMed Central PMCID: PMCPMC3709915.
    • (2013) PLoS One , vol.8 , Issue.7 , pp. e68095
    • Grove, M.L.1    Yu, B.2    Cochran, B.J.3    Haritunians, T.4    Bis, J.C.5    Taylor, K.D.6
  • 51
    • 77954145555 scopus 로고    scopus 로고
    • Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists
    • 20526338,; PubMed Central PMCID: PMCPMC3057573
    • Johnson AD, Yanek LR, Chen MH, Faraday N, Larson MG, Tofler G, et al. Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists. Nat Genet. 2010;42(7):608–13. doi: 10.1038/ng.604 20526338; PubMed Central PMCID: PMCPMC3057573.
    • (2010) Nat Genet , vol.42 , Issue.7 , pp. 608-613
    • Johnson, A.D.1    Yanek, L.R.2    Chen, M.H.3    Faraday, N.4    Larson, M.G.5    Tofler, G.6
  • 52
    • 84942364202 scopus 로고    scopus 로고
    • Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF
    • 26105150,; PubMed Central PMCID: PMCPMC4566813
    • Huffman JE, de Vries PS, Morrison AC, Sabater-Lleal M, Kacprowski T, Auer PL, et al. Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF. Blood. 2015;126(11):e19–29. doi: 10.1182/blood-2015-02-624551 26105150; PubMed Central PMCID: PMCPMC4566813.
    • (2015) Blood , vol.126 , Issue.11 , pp. e19-29
    • Huffman, J.E.1    de Vries, P.S.2    Morrison, A.C.3    Sabater-Lleal, M.4    Kacprowski, T.5    Auer, P.L.6
  • 53
    • 33845709506 scopus 로고    scopus 로고
    • Multiple biomarkers for the prediction of first major cardiovascular events and death
    • 1718298
    • Wang TJ, Gona P, Larson MG, Tofler GH, Levy D, Newton-Cheh C, et al. Multiple biomarkers for the prediction of first major cardiovascular events and death. N Engl J Med. 2006;355(25):2631–9. doi: 10.1056/NEJMoa055373 17182988.
    • (2006) N Engl J Med , vol.355 , Issue.25 , pp. 2631-2639
    • Wang, T.J.1    Gona, P.2    Larson, M.G.3    Tofler, G.H.4    Levy, D.5    Newton-Cheh, C.6
  • 54
    • 84962907400 scopus 로고    scopus 로고
    • Plasminogen activator inhibitor and the risk of cardiovascular disease: The Framingham Heart Study
    • 2689660
    • Tofler GH, Massaro J, O'Donnell CJ, Wilson PW, Vasan RS, Sutherland PA, et al. Plasminogen activator inhibitor and the risk of cardiovascular disease: The Framingham Heart Study. Thromb Res. 2016;140:30–5. doi: 10.1016/j.thromres.2016.02.002 26896607.
    • (2016) Thromb Res , vol.140 , pp. 30-35
    • Tofler, G.H.1    Massaro, J.2    O'Donnell, C.J.3    Wilson, P.W.4    Vasan, R.S.5    Sutherland, P.A.6
  • 55
    • 61449172037 scopus 로고    scopus 로고
    • Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources
    • 1913195
    • Huang da W, Sherman BT, Lempicki RA, Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources. Nat Protoc. 2009;4(1):44–57. doi: 10.1038/nprot.2008.211 19131956.
    • (2009) Nat Protoc , vol.4 , Issue.1 , pp. 44-57
    • Huang da, W.1    Sherman, B.T.2    Lempicki, R.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.