BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

167 related articles for article (PubMed ID: 26755827)

  • 1. Exploring the complete mutational space of the LDL receptor LA5 domain using molecular dynamics: linking SNPs with disease phenotypes in familial hypercholesterolemia.
    Angarica VE; Orozco M; Sancho J
    Hum Mol Genet; 2016 Mar; 25(6):1233-46. PubMed ID: 26755827
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.
    Jensen HK
    Dan Med Bull; 2002 Nov; 49(4):318-45. PubMed ID: 12553167
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A Chinese homozygote of familial hypercholesterolemia: identification of a novel C263R mutation in the LDL receptor gene.
    Wang D; Wu B; Li Y; Heng W; Zhong H; Mu Y; Wang J
    J Hum Genet; 2001; 46(3):152-4. PubMed ID: 11310584
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Genetics and kinetics of familial hypercholesterolemia, with the special focus on FH-(Marburg) p.W556R.
    Soufi M; Kurt B; Schweer H; Sattler AM; Klaus G; Zschocke J; Schaefer JR
    Atheroscler Suppl; 2009 Dec; 10(5):5-11. PubMed ID: 20129366
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Computational diagnosis of protein conformational diseases: short molecular dynamics simulations reveal a fast unfolding of r-LDL mutants that cause familial hypercholesterolemia.
    Cuesta-López S; Falo F; Sancho J
    Proteins; 2007 Jan; 66(1):87-95. PubMed ID: 17044057
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.
    Radovica-Spalvina I; Latkovskis G; Silamikelis I; Fridmanis D; Elbere I; Ventins K; Ozola G; Erglis A; Klovins J
    BMC Med Genet; 2015 Sep; 16():86. PubMed ID: 26415676
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Six novel mutations of the LDL receptor gene in FH kindred of Sicilian and Paraguayan descent.
    Cefalù AB; Barraco G; Noto D; Valenti V; Barbagallo CM; Elisir GD; Cuniberti LA; Werba JP; Libra M; Costa S; Gianguzza F; Notarbartolo A; Travali S; Averna MR
    Int J Mol Med; 2006 Mar; 17(3):539-46. PubMed ID: 16465405
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland.
    Koivisto UM; Turtola H; Aalto-Setälä K; Top B; Frants RR; Kovanen PT; Syvänen AC; Kontula K
    J Clin Invest; 1992 Jul; 90(1):219-28. PubMed ID: 1634609
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Familial hypercholesterolemia: molecular, biochemical, and clinical characterization of a French-Canadian pediatric population.
    Assouline L; Levy E; Feoli-Fonseca JC; Godbout C; Lambert M
    Pediatrics; 1995 Aug; 96(2 Pt 1):239-46. PubMed ID: 7630677
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.
    Wang J; Huff E; Janecka L; Hegele RA
    Hum Mutat; 2001 Oct; 18(4):359. PubMed ID: 11668627
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Molecular basis of familial hypercholesterolemia-like phenotype heterogeneity].
    Wang LY; Lin J; Liu S; Chen BS
    Yi Chuan Xue Bao; 2005 Jul; 32(7):770-7. PubMed ID: 16078748
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [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]  

  • 15. Identification of two novel LDL receptor gene defects in French-Canadian pediatric population: mutational analysis and biochemical studies.
    Assouline L; Leitersdorf E; Lambert M; Reshef A; Feoli-Fonseca JC; Levy E
    Hum Mutat; 1997; 9(6):555-62. PubMed ID: 9195230
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of two new LDL-receptor mutations causing homozygous familial hypercholesterolemia in a South African of Indian origin.
    Rubinsztein DC; Jialal I; Leitersdorf E; Coetzee GA; van der Westhuyzen DR
    Biochim Biophys Acta; 1993 Aug; 1182(1):75-82. PubMed ID: 8347689
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The molecular basis of familial hypercholesterolemia in The Netherlands.
    Fouchier SW; Defesche JC; Umans-Eckenhausen MW; Kastelein JP
    Hum Genet; 2001 Dec; 109(6):602-15. PubMed ID: 11810272
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands.
    Lombardi MP; Redeker EJ; Defesche JC; Kamerling SW; Trip MD; Mannens MM; Havekes LM; Kastelein JJ
    Clin Genet; 2000 Feb; 57(2):116-24. PubMed ID: 10735632
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical studies in a kindred with a kinetic LDL receptor mutation causing familial hypercholesterolemia.
    Bilheimer DW; East C; Grundy SM; Nora JJ
    Am J Med Genet; 1985 Nov; 22(3):593-8. PubMed ID: 4061492
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.
    Sharifi M; Walus-Miarka M; Idzior-Waluś B; Malecki MT; Sanak M; Whittall R; Li KW; Futema M; Humphries SE
    Metabolism; 2016 Mar; 65(3):48-53. PubMed ID: 26892515
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.