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 *

116 related articles for article (PubMed ID: 9684750)

  • 1. Analysis of two duplications of the LDL receptor gene affecting intracellular transport, catabolism, and surface binding of the LDL receptor.
    Patel DD; Lelli N; Garuti R; Li Volti S; Bertolini S; Knight BL; Calandra S
    J Lipid Res; 1998 Jul; 39(7):1466-75. PubMed ID: 9684750
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Partial duplication of the EGF precursor homology domain of the LDL-receptor protein causing familial hypercholesterolemia (FH-Salerno).
    Bertolini S; Patel DD; Coviello DA; Lelli N; Ghisellini M; Tiozzo R; Masturzo P; Elicio N; Knight BL; Calandra S
    J Lipid Res; 1994 Aug; 35(8):1422-30. PubMed ID: 7989866
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Two novel partial deletions of LDL-receptor gene in Italian patients with familial hypercholesterolemia (FH Siracusa and FH Reggio Emilia).
    Garuti R; Lelli N; Barozzini M; Tiozzo R; Ghisellini M; Simone ML; Li Volti S; Garozzo R; Mollica F; Vergoni W; Bertolini S; Calandra S
    Atherosclerosis; 1996 Mar; 121(1):105-17. PubMed ID: 8678915
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Analysis of a recycling-impaired mutant of low density lipoprotein receptor in familial hypercholesterolemia.
    Miyake Y; Tajima S; Funahashi T; Yamamoto A
    J Biol Chem; 1989 Oct; 264(28):16584-90. PubMed ID: 2777800
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. Deletion of exon encoding cysteine-rich repeat of low density lipoprotein receptor alters its binding specificity in a subject with familial hypercholesterolemia.
    Hobbs HH; Brown MS; Goldstein JL; Russell DW
    J Biol Chem; 1986 Oct; 261(28):13114-20. PubMed ID: 3020025
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A 'de novo' point mutation of the low-density lipoprotein receptor gene in an Italian subject with primary hypercholesterolemia.
    Cassanelli S; Bertolini S; Rolleri M; De Stefano F; Casarino L; Elicio N; Naselli A; Calandra S
    Clin Genet; 1998 May; 53(5):391-5. PubMed ID: 9660059
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Occurrence of multiple aberrantly spliced mRNAs of the LDL-receptor gene upon a donor splice site mutation that causes familial hypercholesterolemia (FHBenevento).
    Lelli N; Garuti R; Ghisellini M; Tiozzo R; Rolleri M; Aimale V; Ginocchio E; Naselli A; Bertolini S; Calandra S
    J Lipid Res; 1995 Jun; 36(6):1315-24. PubMed ID: 7545204
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. Two partial deletion mutations involving the same Alu sequence within intron 8 of the LDL receptor gene in Korean patients with familial hypercholesterolemia.
    Chae JJ; Park YB; Kim SH; Hong SS; Song GJ; Han KH; Namkoong Y; Kim HS; Lee CC
    Hum Genet; 1997 Feb; 99(2):155-63. PubMed ID: 9048913
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Heterozygosity for the missense mutation Ala370-->Thr in exon 8 of the low density lipoprotein receptor gene does not cause hypercholesterolemia.
    Weiss N; Binder G; Keller C
    Eur J Med Res; 1998 Feb; 3(1-2):20-4. PubMed ID: 9512963
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Association of an exon 3 mutation (Trp66-->Gly) of the LDL receptor with variable expression of familial hypercholesterolemia in a French Canadian family.
    Levy E; Minnich A; Cacan SL; Thibault L; Giroux LM; Davignon J; Lambert M
    Biochem Mol Med; 1997 Feb; 60(1):59-69. PubMed ID: 9066982
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Deletion of two growth-factor repeats from the low-density-lipoprotein receptor accelerates its degradation.
    van der Westhuyzen DR; Stein ML; Henderson HE; Marais AD; Fourie AM; Coetzee GA
    Biochem J; 1991 Aug; 277 ( Pt 3)(Pt 3):677-82. PubMed ID: 1872803
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Low density lipoprotein receptor mutations in a selected population of individuals with moderate hypercholesterolemia.
    Arca M; Jokinen E
    Atherosclerosis; 1998 Jan; 136(1):187-94. PubMed ID: 9544746
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [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]  

  • 19. A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor.
    Miyake Y; Tajima S; Funahashi T; Yamamura T; Yamamoto A
    Eur J Biochem; 1992 Nov; 210(1):1-7. PubMed ID: 1446662
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Duplication of exons 13, 14 and 15 of the LDL-receptor gene in a patient with heterozygous familial hypercholesterolemia.
    Lelli N; Ghisellini M; Calandra S; Gaddi A; Ciarrocchi A; Coviello DA; Bertolini S
    Hum Genet; 1991 Feb; 86(4):359-62. PubMed ID: 1999337
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.