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1214 related items for PubMed ID: 25278291

  • 1. PCSK9 R46L, lower LDL, and cardiovascular disease risk in familial hypercholesterolemia: a cross-sectional cohort study.
    Saavedra YG, Dufour R, Davignon J, Baass A.
    Arterioscler Thromb Vasc Biol; 2014 Dec; 34(12):2700-5. PubMed ID: 25278291
    [Abstract] [Full Text] [Related]

  • 2. Loss-of-function mutation R46L in the PCSK9 gene has little impact on the levels of total serum cholesterol in familial hypercholesterolemia heterozygotes.
    Strøm TB, Holla ØL, Cameron J, Berge KE, Leren TP.
    Clin Chim Acta; 2010 Feb; 411(3-4):229-33. PubMed ID: 19917273
    [Abstract] [Full Text] [Related]

  • 3. Healthy individuals carrying the PCSK9 p.R46L variant and familial hypercholesterolemia patients carrying PCSK9 p.D374Y exhibit lower plasma concentrations of PCSK9.
    Humphries SE, Neely RD, Whittall RA, Troutt JS, Konrad RJ, Scartezini M, Li KW, Cooper JA, Acharya J, Neil A.
    Clin Chem; 2009 Dec; 55(12):2153-61. PubMed ID: 19797716
    [Abstract] [Full Text] [Related]

  • 4. The PCSK9 gene R46L variant is associated with lower plasma lipid levels and cardiovascular risk in healthy U.K. men.
    Scartezini M, Hubbart C, Whittall RA, Cooper JA, Neil AH, Humphries SE.
    Clin Sci (Lond); 2007 Dec; 113(11):435-41. PubMed ID: 17550346
    [Abstract] [Full Text] [Related]

  • 5. Elevated plasma PCSK9 level is equally detrimental for patients with nonfamilial hypercholesterolemia and heterozygous familial hypercholesterolemia, irrespective of low-density lipoprotein receptor defects.
    Lambert G, Petrides F, Chatelais M, Blom DJ, Choque B, Tabet F, Wong G, Rye KA, Hooper AJ, Burnett JR, Barter PJ, Marais AD.
    J Am Coll Cardiol; 2014 Jun 10; 63(22):2365-73. PubMed ID: 24632287
    [Abstract] [Full Text] [Related]

  • 6. Serum levels of proprotein convertase subtilisin/kexin type 9 in subjects with familial hypercholesterolemia indicate that proprotein convertase subtilisin/kexin type 9 is cleared from plasma by low-density lipoprotein receptor-independent pathways.
    Cameron J, Bogsrud MP, Tveten K, Strøm TB, Holven K, Berge KE, Leren TP.
    Transl Res; 2012 Aug 10; 160(2):125-30. PubMed ID: 22683370
    [Abstract] [Full Text] [Related]

  • 7. A novel type of familial hypercholesterolemia: double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene.
    Tada H, Kawashiri MA, Ohtani R, Noguchi T, Nakanishi C, Konno T, Hayashi K, Nohara A, Inazu A, Kobayashi J, Mabuchi H, Yamagishi M.
    Atherosclerosis; 2011 Dec 10; 219(2):663-6. PubMed ID: 21872251
    [Abstract] [Full Text] [Related]

  • 8. Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia.
    Grenkowitz T, Kassner U, Wühle-Demuth M, Salewsky B, Rosada A, Zemojtel T, Hopfenmüller W, Isermann B, Borucki K, Heigl F, Laufs U, Wagner S, Kleber ME, Binner P, März W, Steinhagen-Thiessen E, Demuth I.
    Atherosclerosis; 2016 Oct 10; 253():88-93. PubMed ID: 27596133
    [Abstract] [Full Text] [Related]

  • 9. Proprotein convertase subtilisin/kexin 9 V4I variant with LDLR mutations modifies the phenotype of familial hypercholesterolemia.
    Ohta N, Hori M, Takahashi A, Ogura M, Makino H, Tamanaha T, Fujiyama H, Miyamoto Y, Harada-Shiba M.
    J Clin Lipidol; 2016 Oct 10; 10(3):547-555.e5. PubMed ID: 27206942
    [Abstract] [Full Text] [Related]

  • 10. Familial hypercholesterolemia: PCSK9 InsLEU genetic variant and prediabetes/diabetes risk.
    Saavedra YGL, Dufour R, Baass A.
    J Clin Lipidol; 2015 Oct 10; 9(6):786-793.e1. PubMed ID: 26687699
    [Abstract] [Full Text] [Related]

  • 11. Removal of plasma mature and furin-cleaved proprotein convertase subtilisin/kexin 9 by low-density lipoprotein-apheresis in familial hypercholesterolemia: development and application of a new assay for PCSK9.
    Hori M, Ishihara M, Yuasa Y, Makino H, Yanagi K, Tamanaha T, Kishimoto I, Kujiraoka T, Hattori H, Harada-Shiba M.
    J Clin Endocrinol Metab; 2015 Jan 10; 100(1):E41-9. PubMed ID: 25313916
    [Abstract] [Full Text] [Related]

  • 12. Effect of mutations in LDLR and PCSK9 genes on phenotypic variability in Tunisian familial hypercholesterolemia patients.
    Slimani A, Jelassi A, Jguirim I, Najah M, Rebhi L, Omezzine A, Maatouk F, Hamda KB, Kacem M, Rabès JP, Abifadel M, Boileau C, Rouis M, Slimane MN, Varret M.
    Atherosclerosis; 2012 May 10; 222(1):158-66. PubMed ID: 22417841
    [Abstract] [Full Text] [Related]

  • 13. Association Between Cholesterol Efflux Capacity and Atherosclerotic Cardiovascular Disease in Patients With Familial Hypercholesterolemia.
    Ogura M, Hori M, Harada-Shiba M.
    Arterioscler Thromb Vasc Biol; 2016 Jan 10; 36(1):181-8. PubMed ID: 26543100
    [Abstract] [Full Text] [Related]

  • 14. Genotypic and phenotypic features in homozygous familial hypercholesterolemia caused by proprotein convertase subtilisin/kexin type 9 (PCSK9) gain-of-function mutation.
    Mabuchi H, Nohara A, Noguchi T, Kobayashi J, Kawashiri MA, Inoue T, Mori M, Tada H, Nakanishi C, Yagi K, Yamagishi M, Ueda K, Takegoshi T, Miyamoto S, Inazu A, Koizumi J, Hokuriku FH Study Group.
    Atherosclerosis; 2014 Sep 10; 236(1):54-61. PubMed ID: 25014035
    [Abstract] [Full Text] [Related]

  • 15. Targeting the proprotein convertase subtilisin/kexin type 9 for the treatment of dyslipidemia and atherosclerosis.
    Urban D, Pöss J, Böhm M, Laufs U.
    J Am Coll Cardiol; 2013 Oct 15; 62(16):1401-8. PubMed ID: 23973703
    [Abstract] [Full Text] [Related]

  • 16. The loss-of-function PCSK9 p.R46L genetic variant does not alter glucose homeostasis.
    Bonnefond A, Yengo L, Le May C, Fumeron F, Marre M, Balkau B, Charpentier G, Franc S, Froguel P, Cariou B, DESIR study group.
    Diabetologia; 2015 Sep 15; 58(9):2051-5. PubMed ID: 26049403
    [Abstract] [Full Text] [Related]

  • 17. Lipoprotein(a) in Familial Hypercholesterolemia With Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Gain-of-Function Mutations.
    Tada H, Kawashiri MA, Yoshida T, Teramoto R, Nohara A, Konno T, Inazu A, Mabuchi H, Yamagishi M, Hayashi K.
    Circ J; 2016 Sep 15; 80(2):512-8. PubMed ID: 26632531
    [Abstract] [Full Text] [Related]

  • 18. Carriers of the PCSK9 R46L Variant Are Characterized by an Antiatherogenic Lipoprotein Profile Assessed by Nuclear Magnetic Resonance Spectroscopy-Brief Report.
    Verbeek R, Boyer M, Boekholdt SM, Hovingh GK, Kastelein JJ, Wareham N, Khaw KT, Arsenault BJ.
    Arterioscler Thromb Vasc Biol; 2017 Jan 15; 37(1):43-48. PubMed ID: 27856457
    [Abstract] [Full Text] [Related]

  • 19. The contribution of PCSK9 levels to the phenotypic severity of familial hypercholesterolemia is independent of LDL receptor genotype.
    Drouin-Chartier JP, Tremblay AJ, Hogue JC, Ooi TC, Lamarche B, Couture P.
    Metabolism; 2015 Nov 15; 64(11):1541-7. PubMed ID: 26371983
    [Abstract] [Full Text] [Related]

  • 20. Leucine 10 allelic variant in signal peptide of PCSK9 increases the LDL cholesterol-lowering effect of statins in patients with familial hypercholesterolaemia.
    Pisciotta L, Sallo R, Rabacchi C, Wunsch A, Calandra S, Bertolini S.
    Nutr Metab Cardiovasc Dis; 2012 Oct 15; 22(10):831-5. PubMed ID: 21920719
    [Abstract] [Full Text] [Related]

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