112 related articles for article (PubMed ID: 8589690)
1. A mutation (T-45C) in the promoter region of the low-density-lipoprotein (LDL)-receptor gene is associated with a mild clinical phenotype in a patient with heterozygous familial hypercholesterolaemia (FH).
Sun XM; Neuwirth C; Wade DP; Knight BL; Soutar AK
Hum Mol Genet; 1995 Nov; 4(11):2125-9. PubMed ID: 8589690
[TBL] [Abstract][Full Text] [Related]
2. A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia.
Koivisto UM; Palvimo JJ; Jänne OA; Kontula K
Proc Natl Acad Sci U S A; 1994 Oct; 91(22):10526-30. PubMed ID: 7937987
[TBL] [Abstract][Full Text] [Related]
3. New promoter mutations in the low-density lipoprotein receptor gene which induce familial hypercholesterolaemia phenotype: molecular and functional analysis.
Francová H; Trbusek M; Zapletalová P; Kuhrová V
J Inherit Metab Dis; 2004; 27(4):523-8. PubMed ID: 15303010
[TBL] [Abstract][Full Text] [Related]
4. A mutation (-49C>T) in the promoter of the low density lipoprotein receptor gene associated with familial hypercholesterolemia.
Mozas P; Galetto R; Albajar M; Ros E; Pocoví M; Rodríguez-Rey JC
J Lipid Res; 2002 Jan; 43(1):13-8. PubMed ID: 11792717
[TBL] [Abstract][Full Text] [Related]
5. FH-Pyrgos: a novel mutation in the promoter (-45delT) of the low-density lipoprotein receptor gene associated with familial hypercholesterolemia.
Dedoussis GV; Pitsavos C; Kelberman D; Skoumas J; Prassa ME; Choumerianou DM; Stefanadis C; Humphries SE; Toutouzas P
Clin Genet; 2003 Nov; 64(5):414-9. PubMed ID: 14616764
[TBL] [Abstract][Full Text] [Related]
6. A functional mutation in the LDLR promoter (-139C>G) in a patient with familial hypercholesterolemia.
Smith AJ; Ahmed F; Nair D; Whittall R; Wang D; Taylor A; Norbury G; Humphries SE
Eur J Hum Genet; 2007 Nov; 15(11):1186-9. PubMed ID: 17625505
[TBL] [Abstract][Full Text] [Related]
7. Mutation -59c-->t in repeat 2 of the LDL receptor promoter: reduction in transcriptional activity and possible allelic interaction in a South African family with familial hypercholesterolaemia.
Scholtz CL; Peeters AV; Hoogendijk CF; Thiart R; de Villiers JN; Hillermann R; Liu J; Marais AD; Kotze MJ
Hum Mol Genet; 1999 Oct; 8(11):2025-30. PubMed ID: 10484771
[TBL] [Abstract][Full Text] [Related]
8. Comparison of the genetic defect with LDL-receptor activity in cultured cells from patients with a clinical diagnosis of heterozygous familial hypercholesterolemia. The Familial Hypercholesterolaemia Regression Study Group.
Sun XM; Patel DD; Knight BL; Soutar AK
Arterioscler Thromb Vasc Biol; 1997 Nov; 17(11):3092-101. PubMed ID: 9409298
[TBL] [Abstract][Full Text] [Related]
9. [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]
10. Characterization of a splice-site mutation in the gene for the LDL receptor associated with an unpredictably severe clinical phenotype in English patients with heterozygous FH.
Sun XM; Patel DD; Bhatnagar D; Knight BL; Soutar AK
Arterioscler Thromb Vasc Biol; 1995 Feb; 15(2):219-27. PubMed ID: 7749829
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. A 3-basepair deletion in repeat 1 of the LDL receptor promoter reduces transcriptional activity in a South African Pedi.
Peeters AV; Kotze MJ; Scholtz CL; De Waal LF; Rubinsztein DC; Coetzee GA; Zuliani G; Streiff R; Liu J; van der Westhuyzen DR
J Lipid Res; 1998 May; 39(5):1021-4. PubMed ID: 9610768
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Sterol-dependent repression of low density lipoprotein receptor promoter mediated by 16-base pair sequence adjacent to binding site for transcription factor Sp1.
Dawson PA; Hofmann SL; van der Westhuyzen DR; Südhof TC; Brown MS; Goldstein JL
J Biol Chem; 1988 Mar; 263(7):3372-9. PubMed ID: 3277969
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Influence of genotype at the low density lipoprotein (LDL) receptor gene locus on the clinical phenotype and response to lipid-lowering drug therapy in heterozygous familial hypercholesterolaemia. The Familial Hypercholesterolaemia Regression Study Group.
Sun XM; Patel DD; Knight BL; Soutar AK
Atherosclerosis; 1998 Jan; 136(1):175-85. PubMed ID: 9544745
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Relationship between apolipoprotein(a) phenotype, lipoprotein(a) concentration in plasma, and low density lipoprotein receptor function in a large kindred with familial hypercholesterolemia due to the pro664----leu mutation in the LDL receptor gene.
Soutar AK; McCarthy SN; Seed M; Knight BL
J Clin Invest; 1991 Aug; 88(2):483-92. PubMed ID: 1830890
[TBL] [Abstract][Full Text] [Related]
19. Genetic variation at a splicing branch point in intron 9 of the low density lipoprotein (LDL)-receptor gene: a rare mutation that disrupts mRNA splicing in a patient with familial hypercholesterolaemia and a common polymorphism.
Webb JC; Patel DD; Shoulders CC; Knight BL; Soutar AK
Hum Mol Genet; 1996 Sep; 5(9):1325-31. PubMed ID: 8872473
[TBL] [Abstract][Full Text] [Related]
20. Concerted regulation of low density lipoprotein receptor gene expression by follicle-stimulating hormone and insulin-like growth factor I in porcine granulosa cells: promoter activation, messenger ribonucleic acid stability, and sterol feedback.
LaVoie HA; Garmey JC; Day RN; Veldhuis JD
Endocrinology; 1999 Jan; 140(1):178-86. PubMed ID: 9886824
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]