BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

91 related articles for article (PubMed ID: 19081568)

  • 1. Degradation of LDLR protein mediated by 'gain of function' PCSK9 mutants in normal and ARH cells.
    Fasano T; Sun XM; Patel DD; Soutar AK
    Atherosclerosis; 2009 Mar; 203(1):166-71. PubMed ID: 19081568
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Antagonism of secreted PCSK9 increases low density lipoprotein receptor expression in HepG2 cells.
    McNutt MC; Kwon HJ; Chen C; Chen JR; Horton JD; Lagace TA
    J Biol Chem; 2009 Apr; 284(16):10561-70. PubMed ID: 19224862
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Repurposing an endogenous degradation domain for antibody-mediated disposal of cell-surface proteins.
    Schmitt J; Poole E; Groves I; Owen DJ; Graham SC; Sinclair J; Kelly BT
    EMBO Rep; 2024 Mar; 25(3):951-970. PubMed ID: 38287192
    [TBL] [Abstract][Full Text] [Related]  

  • 4. ARH cooperates with AP-1B in the exocytosis of LDLR in polarized epithelial cells.
    Kang RS; Fölsch H
    J Cell Biol; 2011 Apr; 193(1):51-60. PubMed ID: 21444685
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A single injection of gain-of-function mutant PCSK9 adeno-associated virus vector induces cardiovascular calcification in mice with no genetic modification.
    Goettsch C; Hutcheson JD; Hagita S; Rogers MA; Creager MD; Pham T; Choi J; Mlynarchik AK; Pieper B; Kjolby M; Aikawa M; Aikawa E
    Atherosclerosis; 2016 Aug; 251():109-118. PubMed ID: 27318830
    [TBL] [Abstract][Full Text] [Related]  

  • 6. PCSK9 inhibition protects mice from food allergy.
    Lorant V; Klein M; Garçon D; Sotin T; Frey S; Cheminant MA; Ayer A; Croyal M; Flet L; Rimbert A; Colas L; Cariou B; Bouchaud G; Le May C
    Transl Res; 2024 Mar; 272():151-161. PubMed ID: 38471633
    [TBL] [Abstract][Full Text] [Related]  

  • 7.
    Vallejo-Vaz AJ
    Eur Cardiol; 2018 Aug; 13(1):7-8. PubMed ID: 30310462
    [No Abstract]   [Full Text] [Related]  

  • 8. Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
    Olfson E; Cottrell CE; Davidson NO; Gurnett CA; Heusel JW; Stitziel NO; Chen LS; Hartz S; Nagarajan R; Saccone NL; Bierut LJ
    PLoS One; 2015; 10(9):e0135193. PubMed ID: 26332594
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.
    Maxwell KN; Hart SN; Vijai J; Schrader KA; Slavin TP; Thomas T; Wubbenhorst B; Ravichandran V; Moore RM; Hu C; Guidugli L; Wenz B; Domchek SM; Robson ME; Szabo C; Neuhausen SL; Weitzel JN; Offit K; Couch FJ; Nathanson KL
    Am J Hum Genet; 2016 May; 98(5):801-817. PubMed ID: 27153395
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Loss- and gain-of-function PCSK9 variants: cleavage specificity, dominant negative effects, and low density lipoprotein receptor (LDLR) degradation.
    Benjannet S; Hamelin J; Chrétien M; Seidah NG
    J Biol Chem; 2012 Sep; 287(40):33745-55. PubMed ID: 22875854
    [TBL] [Abstract][Full Text] [Related]  

  • 11. PCSK 9 gain-of-function mutations (R496W and D374Y) and clinical cardiovascular characteristics in a cohort of Turkish patients with familial hypercholesterolemia.
    Kaya E; Kayıkçıoğlu M; Tetik Vardarlı A; Eroğlu Z; Payzın S; Can L
    Anatol J Cardiol; 2017 Oct; 18(4):266-272. PubMed ID: 28777095
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29,365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants.
    Huijgen R; Kindt I; Defesche JC; Kastelein JJ
    Eur Heart J; 2012 Sep; 33(18):2325-30. PubMed ID: 22390909
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Trafficking Dynamics of PCSK9-Induced LDLR Degradation: Focus on Human PCSK9 Mutations and C-Terminal Domain.
    Poirier S; Hamouda HA; Villeneuve L; Demers A; Mayer G
    PLoS One; 2016; 11(6):e0157230. PubMed ID: 27280970
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort.
    Ahmad Z; Adams-Huet B; Chen C; Garg A
    Circ Cardiovasc Genet; 2012 Dec; 5(6):666-75. PubMed ID: 23064986
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.
    Hopkins PN; Defesche J; Fouchier SW; Bruckert E; Luc G; Cariou B; Sjouke B; Leren TP; Harada-Shiba M; Mabuchi H; Rabès JP; Carrié A; van Heyningen C; Carreau V; Farnier M; Teoh YP; Bourbon M; Kawashiri MA; Nohara A; Soran H; Marais AD; Tada H; Abifadel M; Boileau C; Chanu B; Katsuda S; Kishimoto I; Lambert G; Makino H; Miyamoto Y; Pichelin M; Yagi K; Yamagishi M; Zair Y; Mellis S; Yancopoulos GD; Stahl N; Mendoza J; Du Y; Hamon S; Krempf M; Swergold GD
    Circ Cardiovasc Genet; 2015 Dec; 8(6):823-31. PubMed ID: 26374825
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.
    Thormaehlen AS; Schuberth C; Won HH; Blattmann P; Joggerst-Thomalla B; Theiss S; Asselta R; Duga S; Merlini PA; Ardissino D; Lander ES; Gabriel S; Rader DJ; Peloso GM; Pepperkok R; Kathiresan S; Runz H
    PLoS Genet; 2015 Feb; 11(2):e1004855. PubMed ID: 25647241
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features.
    Bertolini S; Calandra S; Arca M; Averna M; Catapano AL; Tarugi P;
    Atherosclerosis; 2020 Nov; 312():72-78. PubMed ID: 32977124
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Population genetic screening efficiently identifies carriers of autosomal dominant diseases.
    Grzymski JJ; Elhanan G; Morales Rosado JA; Smith E; Schlauch KA; Read R; Rowan C; Slotnick N; Dabe S; Metcalf WJ; Lipp B; Reed H; Sharma L; Levin E; Kao J; Rashkin M; Bowes J; Dunaway K; Slonim A; Washington N; Ferber M; Bolze A; Lu JT
    Nat Med; 2020 Aug; 26(8):1235-1239. PubMed ID: 32719484
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis.
    Chora JR; Medeiros AM; Alves AC; Bourbon M
    Genet Med; 2018 Jun; 20(6):591-598. PubMed ID: 29261184
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.