BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

97 related articles for article (PubMed ID: 3443032)

  • 1. The LDL receptor: oligonucleotide-directed mutagenesis of the cytoplasmic domain.
    Davis CG
    Ciba Found Symp; 1987; 130():34-51. PubMed ID: 3443032
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors.
    Davis CG; Lehrman MA; Russell DW; Anderson RG; Brown MS; Goldstein JL
    Cell; 1986 Apr; 45(1):15-24. PubMed ID: 3955657
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain.
    Lehrman MA; Goldstein JL; Brown MS; Russell DW; Schneider WJ
    Cell; 1985 Jul; 41(3):735-43. PubMed ID: 3924410
    [TBL] [Abstract][Full Text] [Related]  

  • 4. New type of the internalization-defective low-density lipoprotein receptor owing to two-nucleotide deletion (2199delCA or 2201delCA) in Japanese patients with familial hypercholesterolaemia.
    Tashiro J; Endo M; Bujo H; Shinomiya M; Morisaki N; Saito Y
    Eur J Clin Invest; 1998 Sep; 28(9):712-9. PubMed ID: 9767370
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains.
    Lehrman MA; Schneider WJ; Südhof TC; Brown MS; Goldstein JL; Russell DW
    Science; 1985 Jan; 227(4683):140-6. PubMed ID: 3155573
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Characterization of a disease-causing Glu119-Lys mutation in the low-density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemia.
    Jensen HK; Jensen TG; Jensen LG; Hansen PS; Kjeldsen M; Andresen BS; Nielsen V; Meinertz H; Hansen AB; Bolund L
    Hum Mutat; 1994; 4(2):102-13. PubMed ID: 7981713
    [TBL] [Abstract][Full Text] [Related]  

  • 7. NPXY, a sequence often found in cytoplasmic tails, is required for coated pit-mediated internalization of the low density lipoprotein receptor.
    Chen WJ; Goldstein JL; Brown MS
    J Biol Chem; 1990 Feb; 265(6):3116-23. PubMed ID: 1968060
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Finnish type of low density lipoprotein receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization-defective phenotype.
    Aalto-Setälä K; Helve E; Kovanen PT; Kontula K
    J Clin Invest; 1989 Aug; 84(2):499-505. PubMed ID: 2760198
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Deletion in the first cysteine-rich repeat of low density lipoprotein receptor impairs its transport but not lipoprotein binding in fibroblasts from a subject with familial hypercholesterolemia.
    Leitersdorf E; Hobbs HH; Fourie AM; Jacobs M; van der Westhuyzen DR; Coetzee GA
    Proc Natl Acad Sci U S A; 1988 Nov; 85(21):7912-6. PubMed ID: 3263645
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The low density lipoprotein receptor. Identification of amino acids in cytoplasmic domain required for rapid endocytosis.
    Davis CG; van Driel IR; Russell DW; Brown MS; Goldstein JL
    J Biol Chem; 1987 Mar; 262(9):4075-82. PubMed ID: 3104336
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews.
    Leitersdorf E; Reshef A; Meiner V; Dann EJ; Beigel Y; van Roggen FG; van der Westhuyzen DR; Coetzee GA
    Hum Genet; 1993 Mar; 91(2):141-7. PubMed ID: 8462973
    [TBL] [Abstract][Full Text] [Related]  

  • 12. FH-Freiburg: a novel missense mutation (C317Y) in growth factor repeat A of the low density lipoprotein receptor gene in a German patient with homozygous familial hypercholesterolemia.
    Nauck MS; Scharnagl H; Nissen H; Schürmann C; Matern D; Nauck MA; Wieland H; März W
    Atherosclerosis; 2000 Aug; 151(2):525-34. PubMed ID: 10924730
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Expression of an LDL receptor allele with two different mutations (E256K and I402T).
    Ekström U; Abrahamson M; Sveger T; Sun XM; Soutar AK; Nilsson-Ehle P
    Mol Pathol; 2000 Feb; 53(1):31-6. PubMed ID: 10884919
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors.
    Soutar AK; Knight BL; Patel DD
    Proc Natl Acad Sci U S A; 1989 Jun; 86(11):4166-70. PubMed ID: 2726768
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Familial hypercholesterolaemia caused by a non-sense mutation in codon 329 of the LDL receptor gene.
    Solberg K; Rødningen OK; Tonstad S; Ose L; Leren TP
    Scand J Clin Lab Invest; 1994 Dec; 54(8):605-9. PubMed ID: 7709162
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A common W556S mutation in the LDL receptor gene of Danish patients with familial hypercholesterolemia encodes a transport-defective protein.
    Jensen HK; Holst H; Jensen LG; Jørgensen MM; Andreasen PH; Jensen TG; Andresen BS; Heath F; Hansen PS; Neve S; Kristiansen K; Faergeman O; Kølvraa S; Bolund L; Gregersen N
    Atherosclerosis; 1997 May; 131(1):67-72. PubMed ID: 9180246
    [TBL] [Abstract][Full Text] [Related]  

  • 17. An acceptor splice site mutation in intron 16 of the low density lipoprotein receptor gene leads to an elongated, internalization defective receptor.
    Lombardi P; Hoffer MJ; Top B; de Wit E; Gevers Leuven JA; Frants RR; Havekes LM
    Atherosclerosis; 1993 Dec; 104(1-2):117-28. PubMed ID: 8141835
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia.
    Leren TP; Solberg K; Rødningen OK; Tonstad S; Ose L
    Hum Genet; 1995 Aug; 96(2):241-2. PubMed ID: 7635482
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The LDL receptor in familial hypercholesterolemia: use of human mutations to dissect a membrane protein.
    Russell DW; Lehrman MA; Südhof TC; Yamamoto T; Davis CG; Hobbs HH; Brown MS; Goldstein JL
    Cold Spring Harb Symp Quant Biol; 1986; 51 Pt 2():811-9. PubMed ID: 3472763
    [TBL] [Abstract][Full Text] [Related]  

  • 20. An exon 4 mutation identified in the majority of South African familial hypercholesterolaemics.
    Kotze MJ; Warnich L; Langenhoven E; du Plessis L; Retief AE
    J Med Genet; 1990 May; 27(5):298-302. PubMed ID: 2352257
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.