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Literature for peptidase S08.039: PCSK9 peptidase

Summary Gene structure Alignment Tree Sequences Sequence features Distribution Structure Literature Substrates Pharma

(References are filtered for relevance to Mutation. To remove the filter click here. See explanation.)

    2020
  1. Mikaeeli,S., Susan-Resiga,D., Girard,E., Ben Djoudi Ouadda,A., Day,R., Prost,S. and Seidah,N.G.
    Functional analysis of natural PCSK9 mutants in modern and archaic humans
    FEBS J287, 515-528. PubMed  Europe PubMed DOI  M
  2. Tada,H., Okada,H., Nomura,A., Nohara,A., Takamura,M. and Kawashiri,M.A.
    A healthy family of familial hypobetalipoproteinemia caused by a protein-truncating variant in the PCSK9 gene
    Intern Med59, 783-787. PubMed  Europe PubMed DOI  M
    3. 2019
  3. Sanchez-Hernandez,R.M., Di Taranto,M.D., Benito-Vicente,A., Uribe,K.B., Lamiquiz-Moneo,I., Larrea-Sebal,A., Jebari,S., Galicia-Garcia,U., Novoa,F.J., Boronat,M., Wagner,A.M., Civeira,F., Martin,C. and Fortunato,G.
    The Arg499His gain-of-function mutation in the C-terminal domain of PCSK9
    Atherosclerosis289, 162-172. PubMed  Europe PubMed DOI  M
    4. 2018
  4. Eroglu,Z., Tetik Vardarli,A., Duzgun,Z., Gunduz,C., Bozok Cetintas,V. and Kayikcioglu,M.
    Case-control study on PCSK9 R496W (rs374603772) and D374Y (rs137852912) mutations in Turkish patients with primary dyslipidemia
    Anatol J Cardiol19, 334-340. PubMed  Europe PubMed DOI  M
  5. Genga,K.R., Lo,C., Cirstea,M.S., Leitao Filho,F.S., Walley,K.R., Russell,J.A., Linder,A., Francis,G.A. and Boyd,J.H.
    Impact of PCSK9 loss-of-function genotype on 1-year mortality and recurrent infection in sepsis survivors
    EBioMedicine38, 257-264. PubMed  Europe PubMed DOI  M
  6. Hedayat,A.F., Park,K.H., Kwon,T.G., Woollard,J.R., Jiang,K., Carlson,D.F., Lerman,A. and Lerman,L.O.
    Peripheral vascular atherosclerosis in a novel PCSK9 gain-of-function mutant Ossabaw miniature pig model
    Transl Res192, 30-45. PubMed  Europe PubMed DOI  M
  7. Iacocca,M.A., Wang,J., Sarkar,S., Dron,J.S., Lagace,T., McIntyre,A.D., Lau,P., Robinson,J.F., Yang,P., Knoll,J.H., Cao,H., McPherson,R. and Hegele,R.A.
    Whole-gene duplication of PCSK9 as a novel genetic mechanism for severe familial hypercholesterolemia
    Can J Cardiol34, 1316-1324. PubMed  Europe PubMed DOI  M
  8. Paquette,M. and Baass,A.
    A novel cause of familial hypercholesterolemia: PCSK9 gene duplication
    Can J Cardiol34, 1259-1260. PubMed  Europe PubMed DOI  M
  9. Yuan,F., Guo,L., Park,K.H., Woollard,J.R., Taek-Geun,K., Jiang,K., Melkamu,T., Zang,B., Smith,S.L., Fahrenkrug,S.C., Kolodgie,F.D., Lerman,A., Virmani,R., Lerman,L.O. and Carlson,D.F.
    Ossabaw pigs with a PCSK9 gain-of-function mutation develop accelerated coronary atherosclerotic lesions: a novel model for preclinical studies
    J Am Heart Assoc7, PubMed  Europe PubMed DOI  M
    10. 2017
  10. Cirulli,E.T. and Ginsburg,G.S.
    Studying genetic resilience to improve human health
    Oral Dis23, 685-688. PubMed  Europe PubMed DOI  M
  11. Di Taranto,M.D., Benito-Vicente,A., Giacobbe,C., Uribe,K.B., Rubba,P., Etxebarria,A., Guardamagna,O., Gentile,M., Martin,C. and Fortunato,G.
    Identification and in vitro characterization of two new PCSK9 gain of function variants found in patients with familial hypercholesterolemia
    Sci Rep7, 15282-15282. PubMed  Europe PubMed DOI  M
  12. Dron,J.S. and Hegele,R.A.
    Complexity of mechanisms among human proprotein convertase subtilisin-kexin type 9 variants
    Curr Opin Lipidol28, 161-169. PubMed  Europe PubMed DOI  M
  13. El Khoury,P., Elbitar,S., Ghaleb,Y., Khalil,Y.A., Varret,M., Boileau,C. and Abifadel,M.
    PCSK9 Mutations in familial hypercholesterolemia: from a groundbreaking discovery to anti-PCSK9 therapies
    Curr Atheroscler Rep19, 49-49. PubMed  Europe PubMed DOI  M  V
  14. Gielen,S.
    PCSK9 deficiency: a double-edged sword?
    Eur J Prev Cardiol24, 1867-1869. PubMed  Europe PubMed DOI  M
  15. Varret,M., Abifadel,M., Despina Kalopissis,A., Fatoumata Maiga,S., Lambert,G., Seidah,N.G., Boileau,C. and Chabert,M.
    Effect of the p.Arg357His mutation of PCSK9 on basal and postprandial lipoprotein metabolism
    Atherosclerosis263, e2-e2. PubMed  Europe PubMed DOI  M
    16. 2016
  16. Garvie,C.W., Fraley,C.V., Elowe,N.H., Culyba,E.K., Lemke,C.T., Hubbard,B.K., Kaushik,V.K. and Daniels,D.S.
    Point mutations at the catalytic site of PCSK9 inhibit folding, autoprocessing, and interaction with the LDL receptor
    Protein Sci25, 2018-2027. PubMed  Europe PubMed DOI  M
  17. He,X.M., Chen,L., Wang,T.S., Zhang,Y.B., Luo,J.B. and Feng,X.X.
    E670G polymorphism of PCSK9 gene of patients with coronary heart disease among Han population in Hainan and three provinces in the northeast of China
    Asian Pac J Trop Med9, 172-176. PubMed  Europe PubMed DOI  M
  18. Langsted,A., Nordestgaard,B.G., Benn,M., Tybjaerg-Hansen,A. and Kamstrup,P.R.
    PCSK9 R46L loss-of-function mutation reduces lipoprotein(a), LDL cholesterol, and risk of aortic valve stenosis
    J Clin Endocrinol Metab101, 3281-3287. PubMed  Europe PubMed DOI  M
  19. Lu,H., Howatt,D.A., Balakrishnan,A., Graham,M.J., Mullick,A.E. and Daugherty,A.
    Hypercholesterolemia induced by a PCSK9 gain-of-function mutation augments angiotensin II-induced abdominal aortic aneurysms in C57BL/6 mice-brief report
    Arterioscler Thromb Vasc Biol36, 1753-1757. PubMed  Europe PubMed DOI  M
  20. Ohta,N., Hori,M., Takahashi,A., Ogura,M., Makino,H., Tamanaha,T., Fujiyama,H., Miyamoto,Y. and Harada-Shiba,M.
    Proprotein convertase subtilisin/kexin 9 V4I variant with LDLR mutations modifies the phenotype of familial hypercholesterolemia
    J Clin Lipidol10, 547-555. PubMed  Europe PubMed DOI  M
  21. Pedro-Botet,J. and Badimon,L.
    [PCSK9: Structure and function. PCSK9 and low-density lipoprotein receptor. Mutations and their effects]
    Clin Investig Arterioscler28 Suppl 2, 3-8. PubMed  Europe PubMed DOI  M
  22. Poirier,S., Hamouda,H.A., Villeneuve,L., Demers,A. and Mayer,G.
    Trafficking dynamics of PCSK9-induced LDLR degradation: focus on human PCSK9 mutations and C-terminal domain
    PLoS ONE11, e0157230-e0157230. PubMed  Europe PubMed DOI  M
  23. Wierod,L., Cameron,J., Strom,T.B. and Leren,T.P.
    Studies of the autoinhibitory segment comprising residues 31-60 of the prodomain of PCSK9: possible implications for the mechanism underlying gain-of-function mutations
    Mol Genet Metab Rep9, 86-93. PubMed  Europe PubMed DOI  M
    24. 2015
  24. Alves,A.C., Etxebarria,A., Medeiros,A.M., Benito-Vicente,A., Thedrez,A., Passard,M., Croyal,M., Martin,C., Lambert,G. and Bourbon,M.
    Characterization of the first PCSK9 gain of function homozygote
    J Am Coll Cardiol66, 2152-2154. PubMed  Europe PubMed DOI  M
  25. Bonnefond,A., Yengo,L., Le May,C., Fumeron,F., Marre,M., Balkau,B., Charpentier,G., Franc,S., Froguel,P. and Cariou,B.
    The loss-of-function PCSK9 p.R46L genetic variant does not alter glucose homeostasis
    Diabetologia58, 2051-2055. PubMed  Europe PubMed DOI  M
  26. Geschwindner,S., Andersson,G.M., Beisel,H.G., Breuer,S., Hallberg,C., Kihlberg,B.M., Lindqvist,A.M., O'Mahony,G., Plowright,A.T., Raubacher,F. and Knecht,W.
    Characterisation of de novo mutations in the C-terminal domain of proprotein convertase subtilisin/kexin type 9
    Protein Eng Des Sel28, 117-125. PubMed  Europe PubMed DOI  M
    27. 2014
  27. Cariou,B., Benoit,I. and Le May,C.
    Preserved adrenal function in fully PCSK9-deficient subject
    Int J Cardiol176, 499-500. PubMed  Europe PubMed DOI  M
  28. Chorba,J.S. and Shokat,K.M.
    The proprotein convertase subtilisin/kexin type 9 (PCSK9) active site and cleavage sequence differentially regulate protein secretion from proteolysis
    J Biol Chem289, 29030-29043. PubMed  Europe PubMed DOI  M  I
  29. Wu,N.Q. and Li,J.J.
    PCSK9 gene mutations and low-density lipoprotein cholesterol
    Clin Chim Acta431, 148-153. PubMed  Europe PubMed DOI  M
    30. 2013
  30. Al-Mashhadi,R.H., Sorensen,C.B., Kragh,P.M., Christoffersen,C., Mortensen,M.B., Tolbod,L.P., Thim,T., Du,Y., Li,J., Liu,Y., Moldt,B., Schmidt,M., Vajta,G., Larsen,T., Purup,S., Bolund,L., Nielsen,L.B., Callesen,H., Falk,E., Mikkelsen,J.G. and Bentzon,J.F.
    Familial hypercholesterolemia and atherosclerosis in cloned minipigs created by DNA transposition of a human PCSK9 gain-of-function mutant
    Sci Transl Med5, 166ra1-166ra1. PubMed  Europe PubMed DOI  M
  31. Postmus,I., Trompet,S., de Craen,A.J., Buckley,B.M., Ford,I., Stott,D.J., Sattar,N., Slagboom,P.E., Westendorp,R.G. and Jukema,J.W.
    PCSK9 SNP rs11591147 is associated with low cholesterol levels but not with cognitive performance or noncardiovascular clinical events in an elderly population
    J Lipid Res54, 561-566. PubMed  Europe PubMed DOI  M
    32. 2012
  32. Benjannet,S., Hamelin,J., Chretien,M. and Seidah,N.G.
    Loss- and gain-of-function PCSK9 variants: cleavage specificity, dominant negative effects, and low density lipoprotein receptor (LDLR) degradation
    J Biol Chem287, 33745-33755. PubMed  Europe PubMed DOI  M  P
  33. Chretien,M.
    My road to Damascus: how I converted to the prohormone theory and the proprotein convertases
    Biochem Cell Biol90, 750-768. PubMed  Europe PubMed DOI  M
    34. 2011
  34. Cariou,B., Le May,C. and Costet,P.
    Clinical aspects of PCSK9
    Atherosclerosis216, 258-265. PubMed  Europe PubMed DOI  M  V
  35. Mayne,J., Dewpura,T., Raymond,A., Bernier,L., Cousins,M., Ooi,T.C., Davignon,J., Seidah,N.G., Mbikay,M. and Chretien,M.
    Novel loss-of-function PCSK9 variant is associated with low plasma LDL cholesterol in a French-Canadian family and with impaired processing and secretion in cell culture
    Clin Chem57, 1415-1423. PubMed  Europe PubMed DOI  M
    36. 2010
  36. Benn,M., Nordestgaard,B.G., Grande,P., Schnohr,P. and Tybjaerg-Hansen,A.
    PCSK9 R46L, low-density lipoprotein cholesterol levels, and risk of ischemic heart disease: 3 independent studies and meta-analyses
    J Am Coll Cardiol55, 2833-2842. PubMed  Europe PubMed DOI  M
  37. Lin,J., Wang,L.Y., Liu,S., Wang,X.M., Yong,Q., Yang,Y., Du,L.P., Pan,X.D., Wang,X. and Jiang,Z.S.
    A novel mutation in proprotein convertase subtilisin/kexin type 9 gene leads to familial hypercholesterolemia in a Chinese family
    Chin Med J (Engl)123, 1133-1138. PubMed  Europe PubMed DOI  M
  38. Noguchi,T., Katsuda,S., Kawashiri,M.A., Tada,H., Nohara,A., Inazu,A., Yamagishi,M., Kobayashi,J. and Mabuchi,H.
    The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolaemia by increasing PCSK9 function and concentration in the circulation
    Atherosclerosis210, 166-172. PubMed  Europe PubMed DOI  M
  39. Norata,G.D., Garlaschelli,K., Grigore,L., Raselli,S., Tramontana,S., Meneghetti,F., Artali,R., Noto,D., Cefalu,A.B., Buccianti,G., Averna,M. and Catapano,A.L.
    Effects of PCSK9 variants on common carotid artery intima media thickness and relation to ApoE alleles
    Atherosclerosis208, 177-182. PubMed  Europe PubMed DOI  M
  40. Strom,T.B., Holla,O.L., Cameron,J., Berge,K.E. and Leren,T.P.
    Loss-of-function mutation R46L in the PCSK9 gene has little impact on the levels of total serum cholesterol in familial hypercholesterolemia heterozygotes
    Clin Chim Acta411, 229-233. PubMed  Europe PubMed DOI  M
    41. 2009
  41. Abifadel,M., Rabes,J.P., Devillers,M., Munnich,A., Erlich,D., Junien,C., Varret,M. and Boileau,C.
    Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease
    Hum Mutat30, 520-529. PubMed  Europe PubMed DOI  M
  42. Cariou,B., Ouguerram,K., Zair,Y., Guerois,R., Langhi,C., Kourimate,S., Benoit,I., Le May,C., Gayet,C., Belabbas,K., Dufernez,F., Chetiveaux,M., Tarugi,P., Krempf,M., Benlian,P. and Costet,P.
    PCSK9 dominant negative mutant results in increased LDL catabolic rate and familial hypobetalipoproteinemia
    Arterioscler Thromb Vasc Biol29, 2191-2197. PubMed  Europe PubMed DOI  M
  43. Humphries,S.E., Neely,R.D., Whittall,R.A., Troutt,J.S., Konrad,R.J., Scartezini,M., Li,K.W., Cooper,J.A., Acharya,J. and Neil,A.
    Healthy individuals carrying the PCSK9 p.R46L variant and familial hypercholesterolemia patients carrying PCSK9 p.D374Y exhibit lower plasma concentrations of PCSK9
    Clin Chem55, 2153-2161. PubMed  Europe PubMed DOI  M
  44. Leigh,S.E., Leren,T.P. and Humphries,S.E.
    Commentary PCSK9 variants: a new database
    Atherosclerosis203, 32-33. PubMed  Europe PubMed DOI  M
    45. 2008
  45. Cameron,J., Holla,O.L., Laerdahl,J.K., Kulseth,M.A., Ranheim,T., Rognes,T., Berge,K.E. and Leren,T.P.
    Characterization of novel mutations in the catalytic domain of the PCSK9 gene
    J Intern Med263, 420-431. PubMed  Europe PubMed DOI  M
  46. Ding,K. and Kullo,I.J.
    Molecular population genetics of PCSK9: a signature of recent positive selection
    Pharmacogenet Genomics18, 169-179. PubMed  Europe PubMed DOI  M
  47. Kostrzewa,G., Broda,G., Kurjata,P., Piotrowski,W. and Ploski,R.
    Effect of protein convertase subtilisin/kexin type 9 (PCSK9) 46L gene polymorphism on LDL cholesterol concentration in a Polish adult population
    Mol Genet Metab94, 259-262. PubMed  Europe PubMed DOI  M
  48. Leren,T.P. and Berge,K.E.
    Identification of mutations in the apolipoprotein B-100 gene and in the PCSK9 gene as the cause of hypocholesterolemia
    Clin Chim Acta397, 92-95. PubMed  Europe PubMed DOI  M
  49. Pandit,S., Wisniewski,D., Santoro,J.C., Ha,S., Ramakrishnan,V., Cubbon,R.M., Cummings,R.T., Wright,S.D., Sparrow,C.P., Sitlani,A. and Fisher,T.S.
    Functional analysis of sites within PCSK9 responsible for hypercholesterolemia
    J Lipid Res49, 1333-1343. PubMed  Europe PubMed DOI  M
  50. Polisecki,E., Peter,I., Robertson,M., McMahon,A.D., Ford,I., Packard,C., Shepherd,J., Jukema,J.W., Blauw,G.J., Westendorp,R.G., de Craen,A.J., Trompet,S., Buckley,B.M., Murphy,M.B., Ordovas,J.M. and Schaefer,E.J.
    Genetic variation at the PCSK9 locus moderately lowers low-density lipoprotein cholesterol levels, but does not significantly lower vascular disease risk in an elderly population
    Atherosclerosis200, 95-101. PubMed  Europe PubMed DOI  M
  51. Ranheim,T., Mattingsdal,M., Lindvall,J.M., Holla,O.L., Berge,K.E., Kulseth,M.A. and Leren,T.P.
    Genome-wide expression analysis of cells expressing gain of function mutant D374Y-PCSK9
    J Cell Physiol217, 459-467. PubMed  Europe PubMed DOI  M
  52. Sirois,F., Gbeha,E., Sanni,A., Chretien,M., Labuda,D. and Mbikay,M.
    Ethnic differences in the frequency of the cardioprotective C679X PCSK9 mutation in a West African population
    Genet Test12, 377-380. PubMed  Europe PubMed DOI  M
  53. Varret,M., Abifadel,M., Rabes,J.P. and Boileau,C.
    Genetic heterogeneity of autosomal dominant hypercholesterolemia
    Clin Genet73, 1-13. PubMed  Europe PubMed DOI  M
    54. 2007
  54. Abboud,S., Karhunen,P.J., Lutjohann,D., Goebeler,S., Luoto,T., Friedrichs,S., Lehtimaki,T., Pandolfo,M. and Laaksonen,R.
    Proprotein convertase subtilisin/kexin type 9 (PCSK9) gene is a risk factor of large-vessel atherosclerosis stroke
    PLoS ONE2, e1043-e1043. PubMed  Europe PubMed DOI  M
  55. Cunningham,D., Danley,D.E., Geoghegan,K.F., Griffor,M.C., Hawkins,J.L., Subashi,T.A., Varghese,A.H., Ammirati,M.J., Culp,J.S., Hoth,L.R., Mansour,M.N., McGrath,K.M., Seddon,A.P., Shenolikar,S., Stutzman-Engwall,K.J., Warren,L.C., Xia,D. and Qiu,X.
    Structural and biophysical studies of PCSK9 and its mutants linked to familial hypercholesterolemia
    Nat Struct Mol Biol14, 413-419. PubMed  Europe PubMed DOI  M
  56. Folsom,A.R., Peacock,J.M. and Boerwinkle,E.
    Sequence variation in proprotein convertase subtilisin/kexin type 9 serine protease gene, low LDL cholesterol, and cancer incidence
    Cancer Epidemiol Biomarkers Prev16, 2455-2458. PubMed  Europe PubMed DOI  M
  57. Hooper,A.J., Marais,A.D., Tanyanyiwa,D.M. and Burnett,J.R.
    The C679X mutation in PCSK9 is present and lowers blood cholesterol in a Southern African population
    Atherosclerosis193, 445-448. PubMed  Europe PubMed DOI  M
  58. Mbikay,M., Mayne,J., Seidah,N.G. and Chretien,M.
    Of PCSK9, cholesterol homeostasis and parasitic infections: possible survival benefits of loss-of-function PCSK9 genetic polymorphisms
    Med Hypotheses69, 1010-1017. PubMed  Europe PubMed DOI  M
    59. 2006
  59. [YEAR:15-8-2006]Benjannet,S., Rhainds,D., Hamelin,J., Nassoury,N. and Seidah,N.G.
    The proprotein convertase (PC) PCSK9 is inactivated by furin and/or PC5/6A: functional consequences of natural mutations and post-translational modifications
    J Biol Chem281, 30561-30572. PubMed  Europe PubMed DOI  M
  60. Berge,K.E., Ose,L. and Leren,T.P.
    Missense mutations in the PCSK9 gene are associated with hypocholesterolemia and possibly increased response to statin therapy
    Arterioscler Thromb Vasc Biol26, 1094-1100. PubMed  Europe PubMed DOI  M
  61. Kotowski,I.K., Pertsemlidis,A., Luke,A., Cooper,R.S., Vega,G.L., Cohen,J.C. and Hobbs,H.H.
    A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol
    Am J Hum Genet78, 410-422. PubMed  Europe PubMed DOI  M
  62. Zhao,Z., Tuakli-Wosornu,Y., Lagace,T.A., Kinch,L., Grishin,N.V., Horton,J.D., Cohen,J.C. and Hobbs,H.H.
    Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote
    Am J Hum Genet79, 514-523. PubMed  Europe PubMed DOI  M
    63. 2005
  63. Allard,D., Amsellem,S., Abifadel,M., Trillard,M., Devillers,M., Luc,G., Krempf,M., Reznik,Y., Girardet,J.P., Fredenrich,A., Junien,C., Varret,M., Boileau,C., Benlian,P. and Rabes,J.P.
    Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia
    Hum Mutat26, 497-497. PubMed  Europe PubMed DOI  M
  64. Cohen,J., Pertsemlidis,A., Kotowski,I.K., Graham,R., Garcia,C.K. and Hobbs,H.H.
    Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9
    Nat Genet37, 161-165. PubMed  Europe PubMed DOI  M
  65. Naoumova,R.P., Tosi,I., Patel,D., Neuwirth,C., Horswell,S.D., Marais,A.D., van Heyningen,C. and Soutar,A.K.
    Severe hypercholesterolemia in four British families with the D374Y mutation in the PCSK9 gene: long-term follow-up and treatment response
    Arterioscler Thromb Vasc Biol25, 2654-2660. PubMed  Europe PubMed DOI  M
    66. 2004
  66. Leren,T.P.
    Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia
    Clin Genet65, 419-422. PubMed  Europe PubMed DOI  M
  67. Timms,K.M., Wagner,S., Samuels,M.E., Forbey,K., Goldfine,H., Jammulapati,S., Skolnick,M.H., Hopkins,P.N., Hunt,S.C. and Shattuck,D.M.
    A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree
    Hum Genet114, 349-353. PubMed  Europe PubMed DOI  M
    68. 2003
  68. Abifadel,M., Varret,M., Rabes,J.P., Allard,D., Ouguerram,K., Devillers,M., Cruaud,C., Benjannet,S., Wickham,L., Erlich,D., Derre,A., Villeger,L., Farnier,M., Beucler,I., Bruckert,E., Chambaz,J., Chanu,B., Lecerf,J.M., Luc,G., Moulin,P., Weissenbach,J., Prat,A., Krempf,M., Junien,C., Seidah,N.G. and Boileau,C.
    Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
    Nat Genet34, 154-156. PubMed  Europe PubMed DOI  M

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