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 *

336 related articles for article (PubMed ID: 19148831)

  • 1. Nonsense-mediated decay of human LDL receptor mRNA.
    Holla ØL; Kulseth MA; Berge KE; Leren TP; Ranheim T
    Scand J Clin Lab Invest; 2009; 69(3):409-17. PubMed ID: 19148831
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Mutation screening and functional analysis of low density lipoprotein receptor in a familial hypercholesterolemia family].
    Cheng XH; Zheng F; Zhou X; Xiong CL; Ding J; Chen YM
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Feb; 25(1):55-8. PubMed ID: 18247305
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Identification of a novel mutation at the point of low density lipoprotein receptor gene from a subject with familial hypercholesterolemia].
    Liu YR; Tao QM; Chen JZ; Tao M; Guo XG; Shang YP; Zhu JH; Zhang FR; Zheng LR; Wang XX
    Sheng Li Xue Bao; 2004 Oct; 56(5):566-72. PubMed ID: 15497035
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Analysis of nonsense-mediated mRNA decay in mutant alleles identified in Spanish Gaucher disease patients.
    Montfort M; Chabás A; Vilageliu L; Grinberg D
    Blood Cells Mol Dis; 2006; 36(1):46-52. PubMed ID: 16326120
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Splice-site mutation c.313+1, G>A in intron 3 of the LDL receptor gene results in transcripts with skipping of exon 3 and inclusion of intron 3.
    Cameron J; Holla ØL; Kulseth MA; Leren TP; Berge KE
    Clin Chim Acta; 2009 May; 403(1-2):131-5. PubMed ID: 19361455
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutant transcripts of the LDL receptor gene: mRNA structure and quantity.
    Rødningen OK; Tonstad S; Saugstad OD; Ose L; Leren TP
    Hum Mutat; 1999; 13(3):186-96. PubMed ID: 10090473
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.
    Mozas P; Castillo S; Tejedor D; Reyes G; Alonso R; Franco M; Saenz P; Fuentes F; Almagro F; Mata P; Pocoví M
    Hum Mutat; 2004 Aug; 24(2):187. PubMed ID: 15241806
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Functional characterization of splicing and ligand-binding domain variants in the LDL receptor.
    Etxebarria A; Palacios L; Stef M; Tejedor D; Uribe KB; Oleaga A; Irigoyen L; Torres B; Ostolaza H; Martin C
    Hum Mutat; 2012 Jan; 33(1):232-43. PubMed ID: 21990180
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin.
    Linde L; Boelz S; Nissim-Rafinia M; Oren YS; Wilschanski M; Yaacov Y; Virgilis D; Neu-Yilik G; Kulozik AE; Kerem E; Kerem B
    J Clin Invest; 2007 Mar; 117(3):683-92. PubMed ID: 17290305
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Knock-in mice reveal nonsense-mediated mRNA decay in the brain.
    Contet C; Dierich A; Kieffer BL
    Genesis; 2007 Jan; 45(1):38-43. PubMed ID: 17216605
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Functional analysis of the synonymous R385R mutation in the low-density lipoprotein receptor gene.
    Tveten K; Khoo KL; Berge KE; Leren TP; Kulseth MA
    Genet Test Mol Biomarkers; 2009 Apr; 13(2):243-8. PubMed ID: 19371225
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel method for determining functional LDL receptor activity in familial hypercholesterolemia: application of the CD3/CD28 assay in lymphocytes.
    Tada H; Kawashiri MA; Noguchi T; Mori M; Tsuchida M; Takata M; Nohara A; Inazu A; Kobayashi J; Yachie A; Mabuchi H; Yamagishi M
    Clin Chim Acta; 2009 Feb; 400(1-2):42-7. PubMed ID: 19013141
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Low-density lipoprotein receptor activity in Epstein-Barr virus-transformed lymphocytes from heterozygotes for the D374Y mutation in the PCSK9 gene.
    Holla ØL; Cameron J; Berge KE; Kulseth MA; Ranheim T; Leren TP
    Scand J Clin Lab Invest; 2006; 66(4):317-28. PubMed ID: 16777760
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Use of the denaturing gradient gel electrophoresis (DGGE) method for mutational screening of patients with familial hypercholesterolaemia (FH) and Familial defective apolipoprotein B100 (FDB).
    Azian M; Hapizah MN; Khalid BA; Khalid Y; Rosli A; Jamal R
    Malays J Pathol; 2006 Jun; 28(1):7-15. PubMed ID: 17694954
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Incomplete nonsense-mediated mRNA decay in Giardia lamblia.
    Chen YH; Su LH; Sun CH
    Int J Parasitol; 2008 Sep; 38(11):1305-17. PubMed ID: 18430426
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Effects of a 9.6-kb deletion of the LDL receptor gene (FH Helsinki) on structure and levels of mRNA.
    Rødningen OK; Tonstad S; Ose L; Berg K; Leren TP
    Hum Mutat; 1998; 12(2):95-102. PubMed ID: 9671270
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Analysis of low density lipoprotein receptor function and gene mutation in familial hypercholesterolemic patients].
    Guan X; Li M; Fan L; Chen Q
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Apr; 20(2):138-42. PubMed ID: 12673584
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Identification of a novel splice mutation of low density lipoprotein receptor gene in a Chinese family with familial hypercholesterolemia].
    Lin J; Wang LY; Liu S; Pan XD; Du LP; Shi FR; Qin YW; Zhao Q; Guo HY
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Feb; 21(1):14-8. PubMed ID: 14767901
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Cytoplasmic nonsense-mediated mRNA decay for a nonsense (W262X) transcript of the gene responsible for hereditary tyrosinemia, fumarylacetoacetate hydrolase.
    Dreumont N; Maresca A; Khandjian EW; Baklouti F; Tanguay RM
    Biochem Biophys Res Commun; 2004 Nov; 324(1):186-92. PubMed ID: 15465000
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Two novel mutations of the LDL receptor gene associated with familial hypercholesterolemia in a Chinese family.
    Xie L; Gong QH; Xie ZG; Liang ZM; Hu ZM; Xia K; Xia JH; Yang YF
    Chin Med J (Engl); 2007 Oct; 120(19):1694-9. PubMed ID: 17935672
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.