BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

217 related articles for article (PubMed ID: 16183066)

  • 1. Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia.
    Pisciotta L; Priore Oliva C; Cefalù AB; Noto D; Bellocchio A; Fresa R; Cantafora A; Patel D; Averna M; Tarugi P; Calandra S; Bertolini S
    Atherosclerosis; 2006 Jun; 186(2):433-40. PubMed ID: 16183066
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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;
    Atherosclerosis; 2014 Sep; 236(1):54-61. PubMed ID: 25014035
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Phenotypic variability in 4 homozygous familial hypercholesterolemia siblings compound heterozygous for LDLR mutations.
    Rabacchi C; Bigazzi F; Puntoni M; Sbrana F; Sampietro T; Tarugi P; Bertolini S; Calandra S
    J Clin Lipidol; 2016; 10(4):944-952.e1. PubMed ID: 27578127
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 64(11):1541-7. PubMed ID: 26371983
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 253():88-93. PubMed ID: 27596133
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 63(22):2365-73. PubMed ID: 24632287
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 219(2):663-6. PubMed ID: 21872251
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular genetics of familial hypercholesterolemia in Israel-revisited.
    Durst R; Ibe UK; Shpitzen S; Schurr D; Eliav O; Futema M; Whittall R; Szalat A; Meiner V; Knobler H; Gavish D; Henkin Y; Ellis A; Rubinstein A; Harats D; Bitzur R; Hershkovitz B; Humphries SE; Leitersdorf E
    Atherosclerosis; 2017 Feb; 257():55-63. PubMed ID: 28104544
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Effect of a splice site mutation in LDLR gene and two variations in PCSK9 gene in Tunisian families with familial hypercholesterolaemia.
    Jelassi A; Slimani A; Jguirim I; Najah M; Maatouk F; Varret M; Slimane MN
    Ann Clin Biochem; 2011 Jan; 48(Pt 1):83-6. PubMed ID: 21115573
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.
    Humphries SE; Whittall RA; Hubbart CS; Maplebeck S; Cooper JA; Soutar AK; Naoumova R; Thompson GR; Seed M; Durrington PN; Miller JP; Betteridge DJ; Neil HA;
    J Med Genet; 2006 Dec; 43(12):943-9. PubMed ID: 17142622
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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; 80(2):512-8. PubMed ID: 26632531
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Next generation sequencing to identify novel genetic variants causative of autosomal dominant familial hypercholesterolemia associated with increased risk of coronary heart disease.
    Al-Allaf FA; Athar M; Abduljaleel Z; Taher MM; Khan W; Ba-Hammam FA; Abalkhail H; Alashwal A
    Gene; 2015 Jul; 565(1):76-84. PubMed ID: 25839937
    [TBL] [Abstract][Full Text] [Related]  

  • 15. LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance.
    Snozek CL; Lagerstedt SA; Khoo TK; Rubenfire M; Isley WL; Train LJ; Baudhuin LM
    Eur J Hum Genet; 2009 Jan; 17(1):85-90. PubMed ID: 18648394
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene.
    Abifadel M; Rabès JP; Jambart S; Halaby G; Gannagé-Yared MH; Sarkis A; Beaino G; Varret M; Salem N; Corbani S; Aydénian H; Junien C; Munnich A; Boileau C
    Hum Mutat; 2009 Jul; 30(7):E682-91. PubMed ID: 19319977
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 10(3):547-555.e5. PubMed ID: 27206942
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolaemia by increasing PCSK9 function and concentration in the circulation.
    Noguchi T; Katsuda S; Kawashiri MA; Tada H; Nohara A; Inazu A; Yamagishi M; Kobayashi J; Mabuchi H
    Atherosclerosis; 2010 May; 210(1):166-72. PubMed ID: 20006333
    [TBL] [Abstract][Full Text] [Related]  

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

  • 20. Hyperlipidemia patients carrying LDLR splicing mutation c.1187-2A>G respond favorably to rosuvastatin and PCSK9 inhibitor evolocumab.
    Zhang X; Liu Q; Zhang H; Tan C; Zhu Q; Chen S; Du Y; Yang H; Li Q; Xu C; Wu C; Wang QK
    Mol Genet Genomics; 2022 May; 297(3):833-841. PubMed ID: 35441343
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.