A 3-basepair deletion in repeat 1 of the LDL receptor promoter reduces transcriptional activity in a South African Pedi-Reference-Cited by-同舟云学术

A 3-basepair deletion in repeat 1 of the LDL receptor promoter reduces transcriptional activity in a South African Pedi

Published:1998-05 Issue:5 Volume:39 Page:1021-1024
ISSN:0022-2275
Container-title:Journal of Lipid Research
language:en
Short-container-title:Journal of Lipid Research

Author:

Peeters Armand V.,Kotze Maritha J.,Scholtz Charlotte L.,De Waal Linda F.,Rubinsztein David C.,Coetzee Gerhard A.,Zuliani Giovanni,Streiff Raphael,Liu Jingwen,van der Westhuyzen Deneys R.

Publisher

Elsevier BV

Subject

Cell Biology,Endocrinology,Biochemistry

Reference17 articles.

1. Familial hypercholesterolemia;Goldstein,1995

2. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia;Hobbs;Hum. Mutat.,1992

3. Three direct repeats and a TATA-like sequence are required for regulated expression of the human low density lipoprotein receptor gene;Südhof;J. Biol. Chem.,1987

4. Sterol-dependent repression of low density lipoprotein receptor promoter mediated by 16-base pair sequence adjacent to binding site for transcription factor Sp1;Dawson;J. Biol. Chem.,1988

5. SREBP-1, a basic-helix-loop-helix-leucine zipper protein that controls transcription of the low density lipoprotein receptor gene;Yokoyama;Cell,1993

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1. New promoter mutations in the low-density lipoprotein receptor gene which induce familial hypercholesterolaemia phenotype: Molecular and functional analysis;Journal of Inherited Metabolic Disease;2004-07

2. FH-Pyrgos: a novel mutation in the promoter (−45delT) of the low-density lipoprotein receptor gene associated with familial hypercholesterolemia;Clinical Genetics;2003-10-21

3. Allelic variation in the promoter region of the LDL receptor gene: analysis of an African-specific variant in the FP2 cis-acting regulatory element;Molecular and Cellular Probes;2003-08

4. Analysis of mutations and identification of several polymorphisms in the putative promoter region of the P34CDC2-relatedCDC2L1 gene located at 1P36 in melanoma cell lines and melanoma families;International Journal of Cancer;2002-05-24

5. A mutation (−49C>T) in the promoter of the low density lipoprotein receptor gene associated with familial hypercholesterolemia;Journal of Lipid Research;2002-01