BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

97 related articles for article (PubMed ID: 3443032)

  • 21. Familial hypercholesterolemia. Acceptor splice site (G-->C) mutation in intron 7 of the LDL-R gene: alternate RNA editing causes exon 8 skipping or a premature stop codon in exon 8. LDL-R(Honduras-1) [LDL-R1061(-1) G-->C].
    Yu L; Heere-Ress E; Boucher B; Defesche JC; Kastelein J; Lavoie MA; Genest J
    Atherosclerosis; 1999 Sep; 146(1):125-31. PubMed ID: 10487495
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Deletion in cysteine-rich region of LDL receptor impedes transport to cell surface in WHHL rabbit.
    Yamamoto T; Bishop RW; Brown MS; Goldstein JL; Russell DW
    Science; 1986 Jun; 232(4755):1230-7. PubMed ID: 3010466
    [TBL] [Abstract][Full Text] [Related]  

  • 23. A new missense mutation (Cys297-->Phe) of the low density lipoprotein receptor in Italian patients with familial hypercholesterolemia (FHTrieste).
    Lelli N; Garuti R; Pedrazzi P; Ghisellini M; Simone ML; Tiozzo R; Cattin L; Valenti M; Rolleri M; Bertolini S
    Hum Genet; 1994 May; 93(5):538-40. PubMed ID: 8168830
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Mutations of the low density lipoprotein receptor in Japanese kindreds with familial hypercholesterolemia.
    Funahashi T; Miyake Y; Yamamoto A; Matsuzawa Y; Kishino B
    Hum Genet; 1988 Jun; 79(2):103-8. PubMed ID: 3391611
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. Familial hypercholesterolaemia and LDL receptor mutations.
    Soutar AK
    J Intern Med; 1992 Jun; 231(6):633-41. PubMed ID: 1619386
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Rapid screening for specific mutations in patients with a clinical diagnosis of familial hypercholesterolaemia.
    Talmud P; Tybjaerg-Hansen A; Bhatnagar D; Mbewu A; Miller JP; Durrington P; Humphries S
    Atherosclerosis; 1991 Aug; 89(2-3):137-41. PubMed ID: 1793440
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A modified conformation sensitive gel electrophoresis (CSGE) method for rapid and accurate detection of low density lipoprotein (LDL) receptor gene mutations in Familial Hypercholesterolemia.
    Fard-Esfahani P; Khatami S; Zeinali C; Taghikhani M; Allahyari M
    Clin Biochem; 2005 Jun; 38(6):579-83. PubMed ID: 15885240
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. Identification of the 664 proline to leucine mutation in the low density lipoprotein receptor in four unrelated patients with familial hypercholesterolaemia in the UK.
    King-Underwood L; Gudnason V; Humphries S; Seed M; Patel D; Knight B; Soutar A
    Clin Genet; 1991 Jul; 40(1):17-28. PubMed ID: 1884514
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Familial hypercholesterolemia kindred in Utah with novel C54S mutations of the LDL receptor gene.
    Emi M; Yamaki E; Hirayama T; Katsumata H; Pozharov V; Wu LL; Hopkins PN; Williams RR
    Jpn Heart J; 1998 Nov; 39(6):785-9. PubMed ID: 10089940
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Novel gene mutations at the low density lipoprotein receptor locus: FH-Kanazawa and FH-Okayama.
    Kajinami K; Mabuchi H; Inazu A; Fujita H; Koizumi J; Takeda R; Matsue T; Kibata M
    J Intern Med; 1990 Apr; 227(4):247-51. PubMed ID: 2324680
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. Two mutations in the same low-density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia.
    Jensen HK; Jensen TG; Faergeman O; Jensen LG; Andresen BS; Corydon MJ; Andreasen PH; Hansen PS; Heath F; Bolund L; Gregersen N
    Hum Mutat; 1997; 9(5):437-44. PubMed ID: 9143924
    [TBL] [Abstract][Full Text] [Related]  

  • 35. The identification of two low-density lipoprotein receptor gene mutations in South African familial hypercholesterolaemia.
    Kotze MJ; Langenhoven E; Warnich L; du Plessis L; Marx MP; Oosthuizen CJ; Retief AE
    S Afr Med J; 1989 Oct; 76(8):399-401. PubMed ID: 2799589
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Cells of an internalization-defective familial hypercholesterolemia mutant secrete low density lipoprotein receptors.
    Miyake Y; Funahashi T; Yamamoto A
    J Biochem; 1987 Jun; 101(6):1355-60. PubMed ID: 3312181
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Immunocytochemical localization of mutant low density lipoprotein receptors that fail to reach the Golgi complex.
    Pathak RK; Merkle RK; Cummings RD; Goldstein JL; Brown MS; Anderson RG
    J Cell Biol; 1988 Jun; 106(6):1831-41. PubMed ID: 2898477
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Diagnosis of familial hypercholesterolaemia using DNA probes for the low-density lipoprotein (LDL) receptor gene.
    Armston AE; Iversen SA; Burke JF
    Ann Clin Biochem; 1988 Mar; 25 ( Pt 2)():142-9. PubMed ID: 2898232
    [TBL] [Abstract][Full Text] [Related]  

  • 39. A novel deletion/inversion mutation in the low-density lipoprotein receptor gene as a cause of heterozygous familial hypercholesterolemia.
    Koivisto UM; Kontula K
    Hum Mutat; 1996; 8(4):326-32. PubMed ID: 8956037
    [TBL] [Abstract][Full Text] [Related]  

  • 40. FH Afrikaner-3 LDL receptor mutation results in defective LDL receptors and causes a mild form of familial hypercholesterolemia.
    Graadt van Roggen JF; van der Westhuyzen DR; Coetzee GA; Marais AD; Steyn K; Langenhoven E; Kotze MJ
    Arterioscler Thromb Vasc Biol; 1995 Jun; 15(6):765-72. PubMed ID: 7773731
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 5.