ArticleNucleic acids research1998
LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis.
Article in Nucleic acids research, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 91 citations in OpenAlex.
- Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals.Journal of human genetics · 2018Trial
- Common and rare single nucleotide polymorphisms in the LDLR gene are present in a black South African population and associate with low-density lipoprotein cholesterol levels.Journal of human genetics · 2014Trial
- Use of PCSK9 Inhibitor in a Mexican Boy with Compound Heterozygous Familial Hypercholesterolemia: A Case Report.Journal of the Endocrine Society · 2020Article
- Structure-Function Relationships of LDL Receptor Missense Mutations Using Homology Modeling.The protein journal · 2019Article
- A Japanese case of familial hypercholesterolemia with a novel mutation in theClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2019Article
- Expression and regulation of a low-density lipoprotein receptor exon 12 splice variant.Journal of neurochemistry · 2010Article
- Solution structure of factor I-like modules from complement C7 reveals a pair of follistatin domains in compact pseudosymmetric arrangement.The Journal of biological chemistry · 2009Article
- Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene.Journal of human genetics · 2003Article
- Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews.American journal of human genetics · 2001Article
- A new locus for autosomal recessive hypercholesterolemia maps to human chromosome 15q25-q26.American journal of human genetics · 2000Article
- Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes.American journal of human genetics · 1999Article
- A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32.American journal of human genetics · 1999Article
- p53 gene mutation: software and database.Nucleic acids research · 1998Article
- Software and database for the analysis of mutations in the human WT1 gene.Nucleic acids research · 1998Article
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Authors and funding
19 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Mutations in the LDL receptor gene (LDLR) cause familial hypercholesterolemia (FH), a common autosomal dominant disorder. The LDLR database is a computerized tool that has been developed to provide tools to analyse the numerous mutations that have been identified in the LDLR gene. The second version of the LDLR database contains 140 new entries and the software has been modified to accommodate four new routines. The analysis of the updated data (350 mutations) gives the following informations: (i) 63% of the mutations are missense, and only 20% occur in CpG dinucleotides; (ii) although the mutations are widely distributed throughout the gene, there is an excess of mutations in exons 4 and 9, and a deficit in exons 13 and 15; (iii) the analysis of the distribution of mutations located within the ligand-binding domain shows that 74% of the mutations in this domain affect a conserved amino-acid, and that they are mostly confined in the C-terminal region of the repeats. Conversely, the same analysis in the EGF-like domain shows that 64% of the mutations in this domain affect a non-conserved amino-acid, and, that they are mostly confined in the N-terminal half of the repeats. The database is now accessible on the World Wide Web at http://www.umd.necker.fr
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