These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

96 related articles for article (PubMed ID: 18710658)

  • 1. Identification of mutations in the apolipoprotein B-100 gene and in the PCSK9 gene as the cause of hypocholesterolemia.
    Leren TP; Berge KE
    Clin Chim Acta; 2008 Nov; 397(1-2):92-5. PubMed ID: 18710658
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Missense mutations in the PCSK9 gene are associated with hypocholesterolemia and possibly increased response to statin therapy.
    Berge KE; Ose L; Leren TP
    Arterioscler Thromb Vasc Biol; 2006 May; 26(5):1094-100. PubMed ID: 16424354
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia.
    Leren TP
    Clin Genet; 2004 May; 65(5):419-22. PubMed ID: 15099351
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia.
    Allard D; Amsellem S; Abifadel M; Trillard M; Devillers M; Luc G; Krempf M; Reznik Y; Girardet JP; Fredenrich A; Junien C; Varret M; Boileau C; Benlian P; Rabès JP
    Hum Mutat; 2005 Nov; 26(5):497. PubMed ID: 16211558
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 30(4):520-9. PubMed ID: 19191301
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 24(8):1448-53. PubMed ID: 15166014
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Characterization of novel mutations in the catalytic domain of the PCSK9 gene.
    Cameron J; Holla OL; Laerdahl JK; Kulseth MA; Ranheim T; Rognes T; Berge KE; Leren TP
    J Intern Med; 2008 Apr; 263(4):420-31. PubMed ID: 18266662
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.
    Abifadel M; Varret M; Rabès JP; Allard D; Ouguerram K; Devillers M; Cruaud C; Benjannet S; Wickham L; Erlich D; Derré A; Villéger L; Farnier M; Beucler I; Bruckert E; Chambaz J; Chanu B; Lecerf JM; Luc G; Moulin P; Weissenbach J; Prat A; Krempf M; Junien C; Seidah NG; Boileau C
    Nat Genet; 2003 Jun; 34(2):154-6. PubMed ID: 12730697
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genetic heterogeneity of autosomal dominant hypercholesterolemia in Mexico.
    Robles-Osorio L; Huerta-Zepeda A; Ordóñez ML; Canizales-Quinteros S; Díaz-Villaseñor A; Gutiérrez-Aguilar R; Riba L; Huertas-Vázquez A; Rodríguez-Torres M; Gómez-Díaz RA; Salinas S; Ongay-Larios L; Codiz-Huerta G; Mora-Cabrera M; Mehta R; Gómez Pérez FJ; Rull JA; Rabès JP; Tusié-Luna MT; Durán-Vargas S; Aguilar-Salinas CA
    Arch Med Res; 2006 Jan; 37(1):102-8. PubMed ID: 16314194
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Efficacy and Safety of Alirocumab in Patients With Autosomal Dominant Hypercholesterolemia Associated With Proprotein Convertase Subtilisin/Kexin Type 9 Gain-of-Function or Apolipoprotein B Loss-of-Function Mutations.
    Krempf M; Hopkins PN; Bruckert E; Lee S; Donahue S
    Am J Cardiol; 2020 Mar; 125(6):880-886. PubMed ID: 31932084
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Functional characterization of mutant genes associated with autosomal dominant familial hypercholesterolemia: integration and evolution of genetic diagnosis.
    Di Taranto MD; D'Agostino MN; Fortunato G
    Nutr Metab Cardiovasc Dis; 2015 Nov; 25(11):979-87. PubMed ID: 26165249
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family.
    Garcia-Garcia AB; Ivorra C; Martinez-Hervas S; Blesa S; Fuentes MJ; Puig O; Martín-de-Llano JJ; Carmena R; Real JT; Chaves FJ
    Atherosclerosis; 2011 Oct; 218(2):423-30. PubMed ID: 21868016
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutation S462P in the PCSK9 gene reduces secretion of mutant PCSK9 without affecting the autocatalytic cleavage.
    Cameron J; Holla ØL; Laerdahl JK; Kulseth MA; Berge KE; Leren TP
    Atherosclerosis; 2009 Mar; 203(1):161-5. PubMed ID: 19022446
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in Morocco.
    Chater R; Aït Chihab K; Rabès JP; Varret M; Chabraoui L; El Jahiri Y; Adlouni A; Boileau C; Kettani A; El Messal M
    Clin Chim Acta; 2006 Nov; 373(1-2):62-9. PubMed ID: 16806138
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The C679X mutation in PCSK9 is present and lowers blood cholesterol in a Southern African population.
    Hooper AJ; Marais AD; Tanyanyiwa DM; Burnett JR
    Atherosclerosis; 2007 Aug; 193(2):445-8. PubMed ID: 16989838
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification and characterization of two non-secreted PCSK9 mutants associated with familial hypercholesterolemia in cohorts from New Zealand and South Africa.
    Homer VM; Marais AD; Charlton F; Laurie AD; Hurndell N; Scott R; Mangili F; Sullivan DR; Barter PJ; Rye KA; George PM; Lambert G
    Atherosclerosis; 2008 Feb; 196(2):659-66. PubMed ID: 17765244
    [TBL] [Abstract][Full Text] [Related]  

  • 18. No genetic linkage or molecular evidence for involvement of the PCSK9, ARH or CYP7A1 genes in the Familial Hypercholesterolemia phenotype in a sample of Danish families without pathogenic mutations in the LDL receptor and apoB genes.
    Damgaard D; Jensen JM; Larsen ML; Soerensen VR; Jensen HK; Gregersen N; Jensen LG; Faergeman O
    Atherosclerosis; 2004 Dec; 177(2):415-22. PubMed ID: 15530918
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The cellular trafficking of the secretory proprotein convertase PCSK9 and its dependence on the LDLR.
    Nassoury N; Blasiole DA; Tebon Oler A; Benjannet S; Hamelin J; Poupon V; McPherson PS; Attie AD; Prat A; Seidah NG
    Traffic; 2007 Jun; 8(6):718-32. PubMed ID: 17461796
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.