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Journal Abstract Search

337 related items for 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
    [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
    [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 25; 56(5):566-72. PubMed ID: 15497035
    [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 Oct 25; 36(1):46-52. PubMed ID: 16326120
    [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 25; 403(1-2):131-5. PubMed ID: 19361455
    [Abstract] [Full Text] [Related]

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  • 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 25; 24(2):187. PubMed ID: 15241806
    [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 25; 33(1):232-43. PubMed ID: 21990180
    [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 25; 117(3):683-92. PubMed ID: 17290305
    [Abstract] [Full Text] [Related]

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  • 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 25; 13(2):243-8. PubMed ID: 19371225
    [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 25; 400(1-2):42-7. PubMed ID: 19013141
    [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 Feb 25; 66(4):317-28. PubMed ID: 16777760
    [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 25; 28(1):7-15. PubMed ID: 17694954
    [Abstract] [Full Text] [Related]

  • 15. Incomplete nonsense-mediated mRNA decay in Giardia lamblia.
    Chen YH, Su LH, Sun CH.
    Int J Parasitol; 2008 Sep 25; 38(11):1305-17. PubMed ID: 18430426
    [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 Sep 25; 12(2):95-102. PubMed ID: 9671270
    [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 25; 20(2):138-42. PubMed ID: 12673584
    [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 25; 21(1):14-8. PubMed ID: 14767901
    [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 05; 324(1):186-92. PubMed ID: 15465000
    [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 05; 120(19):1694-9. PubMed ID: 17935672
    [Abstract] [Full Text] [Related]

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