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104 related items for PubMed ID: 18559913

  • 1. A new PCSK9 gene promoter variant affects gene expression and causes autosomal dominant hypercholesterolemia.
    Blesa S, Vernia S, Garcia-Garcia AB, Martinez-Hervas S, Ivorra C, Gonzalez-Albert V, Ascaso JF, Martín-Escudero JC, Real JT, Carmena R, Casado M, Chaves FJ.
    J Clin Endocrinol Metab; 2008 Sep; 93(9):3577-83. PubMed ID: 18559913
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  • 2. 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; 222(1):158-66. PubMed ID: 22417841
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  • 5. Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia.
    Abifadel M, Guerin M, Benjannet S, Rabès JP, Le Goff W, Julia Z, Hamelin J, Carreau V, Varret M, Bruckert E, Tosolini L, Meilhac O, Couvert P, Bonnefont-Rousselot D, Chapman J, Carrié A, Michel JB, Prat A, Seidah NG, Boileau C.
    Atherosclerosis; 2012 Aug; 223(2):394-400. PubMed ID: 22683120
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  • 7. 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
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  • 9. Urine-sample-derived human induced pluripotent stem cells as a model to study PCSK9-mediated autosomal dominant hypercholesterolemia.
    Si-Tayeb K, Idriss S, Champon B, Caillaud A, Pichelin M, Arnaud L, Lemarchand P, Le May C, Zibara K, Cariou B.
    Dis Model Mech; 2016 Jan; 9(1):81-90. PubMed ID: 26586530
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  • 10. Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
    Bertolini S, Pisciotta L, Rabacchi C, Cefalù AB, Noto D, Fasano T, Signori A, Fresa R, Averna M, Calandra S.
    Atherosclerosis; 2013 Apr; 227(2):342-8. PubMed ID: 23375686
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  • 11. Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels.
    Huijgen R, Sjouke B, Vis K, de Randamie JS, Defesche JC, Kastelein JJ, Hovingh GK, Fouchier SW.
    Hum Mutat; 2012 Feb; 33(2):448-55. PubMed ID: 22095935
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  • 12. Genetic heterogeneity of autosomal dominant hypercholesterolemia.
    Varret M, Abifadel M, Rabès JP, Boileau C.
    Clin Genet; 2008 Jan; 73(1):1-13. PubMed ID: 18028451
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  • 13. A common PCSK9 haplotype, encompassing the E670G coding single nucleotide polymorphism, is a novel genetic marker for plasma low-density lipoprotein cholesterol levels and severity of coronary atherosclerosis.
    Chen SN, Ballantyne CM, Gotto AM, Tan Y, Willerson JT, Marian AJ.
    J Am Coll Cardiol; 2005 May 17; 45(10):1611-9. PubMed ID: 15893176
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  • 16. Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia.
    Motazacker MM, Pirruccello J, Huijgen R, Do R, Gabriel S, Peter J, Kuivenhoven JA, Defesche JC, Kastelein JJ, Hovingh GK, Zelcer N, Kathiresan S, Fouchier SW.
    Eur Heart J; 2012 Jun 17; 33(11):1360-6. PubMed ID: 22408029
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  • 17. APOE p.Leu167del mutation in familial hypercholesterolemia.
    Awan Z, Choi HY, Stitziel N, Ruel I, Bamimore MA, Husa R, Gagnon MH, Wang RH, Peloso GM, Hegele RA, Seidah NG, Kathiresan S, Genest J.
    Atherosclerosis; 2013 Dec 17; 231(2):218-22. PubMed ID: 24267230
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  • 18. Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.
    Abifadel M, Rabès JP, Devillers M, Munnich A, Erlich D, Junien C, Varret M, Boileau C.
    Hum Mutat; 2009 Apr 17; 30(4):520-9. PubMed ID: 19191301
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  • 19. Apolipoprotein B100 metabolism in autosomal-dominant hypercholesterolemia related to mutations in PCSK9.
    Ouguerram K, Chetiveaux M, Zair Y, Costet P, Abifadel M, Varret M, Boileau C, Magot T, Krempf M.
    Arterioscler Thromb Vasc Biol; 2004 Aug 17; 24(8):1448-53. PubMed ID: 15166014
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