Associated Papers
LDL-cholesterol in newborns and children with genetically verified familial hypercholesterolaemia: implications for cholesterol-based screening.
Bogsrud MP et al.
European Heart Journal, 2025
Structure-Function Relationships of LDL Receptor Missense Mutations Using Homology Modeling.
Porntadavity S et al.
The Protein Journal, 2019
Extracellular LDLR repeats modulate Wnt signaling activity by promoting LRP6 receptor endocytosis mediated by the Itch E3 ubiquitin ligase.
Vijayakumar S et al.
Genes & Cancer, 2017
Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort.
Ahmad Z et al.
Circulation. Cardiovascular Genetics, 2012
Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.
Chmara M et al.
Journal of Applied Genetics, 2010
Molecular modeling of D151Y and M391T mutations in the LDL receptor.
Jeenduang N et al.
Biochemical and Biophysical Research Communications, 2008
Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations.
Widhalm K et al.
Journal of Inherited Metabolic Disease, 2007
The discrete and combined effect of SREBP-2 and SCAP isoforms in the control of plasma lipids among familial hypercholesterolaemia patients.
Durst R et al.
Atherosclerosis, 2006
Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia.
Brusgaard K et al.
Clinical Genetics, 2006
Large heterogeneity of mutations in the gene encoding the low-density lipoprotein receptor in subjects with familial hypercholesterolaemia.
Muller PY et al.
Atherosclerosis. Supplements, 2004
CYS127S (FH-Kairouan) and D245N (FH-Tozeur) mutations in the LDL receptor gene in Tunisian families with familial hypercholesterolaemia.
Slimane MN et al.
Journal of Medical Genetics, 2002
Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.
Kuhrová V et al.
Human Mutation, 2002
The molecular basis of familial hypercholesterolemia in The Netherlands.
Fouchier SW et al.
Human Genetics, 2001
Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.
Kuhrová V et al.
Human Mutation, 2001
Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.
Nauck MS et al.
Human Mutation, 2001
Eight novel LDL receptor gene mutations among patients under LDL apheresis in Dresden and Leipzig.
Bochmann H et al.
Human Mutation, 2001
Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia.
Weiss N et al.
Journal of Inherited Metabolic Disease, 2000
Evidence that familial hypercholesterolemia mutations of the LDL receptor cause limited local misfolding in an LDL-A module pair.
North CL et al.
Biochemistry, 2000
Solution structure of the sixth LDL-A module of the LDL receptor.
North CL et al.
Biochemistry, 2000
Approaches to the genetics of cardiovascular disease through genetic field work.
Schuster H et al.
Kidney International, 1998
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.
Hobbs HH et al.
Human Mutation, 1992