Literature DB >> 9016531

Software and database for the analysis of mutations in the human LDL receptor gene.

M Varret1, J P Rabès, G Collod-Béroud, C Junien, C Boileau, C Béroud.   

Abstract

The low-density lipoprotein receptor (LDLr) plays a pivotal role in cholesterol homeostasis. Mutations in the LDLr gene (LDLR), which is located on chromosome 19, cause familial hypercholesterolemia (FH), an autosomal dominant disorder characterized by severe hypercholesterolemia associated with premature coronary atherosclerosis. To date almost 300 mutations have been identified in the LDLR gene. To facilitate the mutational analysis of the LDLR gene, and promote the analysis of the relationship between genotype and phenotype, a software package along with a computerized database (currently listing 210 entries) have been created.

Entities:  

Mesh：

Substances：

Year:  1997        PMID： 9016531      PMCID： PMC146377          DOI： 10.1093/nar/25.1.172

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN： 0305-1048            Impact factor:   16.971


  80 in total

1.  Screening for mutations in exon 4 of the LDL receptor gene in a German population with severe hypercholesterolemia.

Authors:  J Giesel; G Holzem; K Oette
Journal:  Hum Genet       Date:  1995-09       Impact factor: 4.132

2.  Familial hypercholesterolaemia caused by a non-sense mutation in codon 329 of the LDL receptor gene.

Authors:  K Solberg; O K Rødningen; S Tonstad; L Ose; T P Leren
Journal:  Scand J Clin Lab Invest       Date:  1994-12       Impact factor: 1.713

3.  Detection of a single base deletion in codon 424 of the low density lipoprotein receptor gene in a Danish family with familial hypercholesterolemia.

Authors:  H Nissen; A B Hansen; P Guldberg; N E Petersen; M L Larsen; T Haghfelt; K Kristiansen; M Hørder
Journal:  Atherosclerosis       Date:  1994-12       Impact factor: 5.162

4.  Two founder mutations in the LDL receptor gene in Norwegian familial hypercholesterolemia subjects.

Authors:  T P Leren; K Solberg; O K Rødningen; S Tonstad; L Ose
Journal:  Atherosclerosis       Date:  1994-12       Impact factor: 5.162

5.  Screening for mutations in exon 4 of the LDL receptor gene: identification of a new deletion mutation.

Authors:  L Theart; M J Kotze; E Langenhoven; O Loubser; A V Peeters; C J Lintott; R S Scott
Journal:  J Med Genet       Date:  1995-05       Impact factor: 6.318

6.  Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing.

Authors:  P Lombardi; E J Sijbrands; K van de Giessen; A H Smelt; J J Kastelein; R R Frants; L M Havekes
Journal:  J Lipid Res       Date:  1995-04       Impact factor: 5.922

7.  An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia.

Authors:  U Ekström; M Abrahamson; T Sveger; P Lombardi; P Nilsson-Ehle
Journal:  Hum Genet       Date:  1995-08       Impact factor: 4.132

8.  Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia.

Authors:  T P Leren; K Solberg; O K Rødningen; S Tonstad; L Ose
Journal:  Hum Genet       Date:  1995-08       Impact factor: 4.132

9.  Screening for known mutations in the LDL receptor gene causing familial hypercholesterolemia.

Authors:  T P Leren; H Sundvold; O K Rødningen; S Tonstad; K Solberg; L Ose; K Berg
Journal:  Hum Genet       Date:  1995-06       Impact factor: 4.132

10.  FH-Sydney 1 and 2: two novel frameshift mutations in exon 10 of the low-density lipoprotein receptor gene detected by heteroduplex formation.

Authors:  J A Cavanaugh; S Easteal; L A Simons; D W Thomas; S W Serjeantson
Journal:  Hum Mutat       Date:  1994       Impact factor: 4.878
View more
  9 in total

1.  Structure-Function Relationships of LDL Receptor Missense Mutations Using Homology Modeling.

Authors:  Sureerut Porntadavity; Nutjaree Jeenduang
Journal:  Protein J       Date:  2019-08       Impact factor: 2.371

2.  Expression of an LDL receptor allele with two different mutations (E256K and I402T).

Authors:  U Ekström; M Abrahamson; T Sveger; X M Sun; A K Soutar; P Nilsson-Ehle
Journal:  Mol Pathol       Date:  2000-02

3.  p53 gene mutation: software and database.

Authors:  C Béroud; T Soussi
Journal:  Nucleic Acids Res       Date:  1998-01-01       Impact factor: 16.971

4.  Software and database for the analysis of mutations in the human WT1 gene.

Authors:  C Jeanpierre; C Béroud; P Niaudet; C Junien
Journal:  Nucleic Acids Res       Date:  1998-01-01       Impact factor: 16.971

5.  LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis.

Authors:  M Varret; J P Rabés; R Thiart; M J Kotze; H Baron; A Cenarro; O Descamps; M Ebhardt; J C Hondelijn; G M Kostner; Y Miyake; M Pocovi; H Schmidt; H Schuster; M Stuhrmann; T Yamamura; C Junien; C Béroud; C Boileau
Journal:  Nucleic Acids Res       Date:  1998-01-01       Impact factor: 16.971

6.  Genetic variation and atherosclerosis.

Authors:  Erik Biros; Mirko Karan; Jonathan Golledge
Journal:  Curr Genomics       Date:  2008-03       Impact factor: 2.236

7.  A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32.

Authors:  M Varret; J P Rabès; B Saint-Jore; A Cenarro; J C Marinoni; F Civeira; M Devillers; M Krempf; M Coulon; R Thiart; M J Kotze; H Schmidt; J C Buzzi; G M Kostner; S Bertolini; M Pocovi; A Rosa; M Farnier; M Martinez; C Junien; C Boileau
Journal:  Am J Hum Genet       Date:  1999-05       Impact factor: 11.025

8.  Association of LDLR rs1433099 with the Risk of NAFLD and CVD in Chinese Han Population.

Authors:  Yi Han; Yongshuo Zhang; Shousheng Liu; Guangxia Chen; Linlin Cao; Yongning Xin
Journal:  J Clin Transl Hepatol       Date:  2021-03-11

Review 9.  The relaxin family peptide receptor 1 (RXFP1): An emerging player in human health and disease.

Authors:  Ting-Yun Chen; Xiaoyun Li; Ching-Hsia Hung; Harinath Bahudhanapati; Jiangning Tan; Daniel J Kass; Yingze Zhang
Journal:  Mol Genet Genomic Med       Date:  2020-02-26       Impact factor: 2.183
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.