Identification of a novel large duplication (exon2_6dup): copy number variation in the LDLR gene in a large family with familial hypercholesterolemia by whole-genome sequencing.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of clinical lipidology"
DOI: 10.1016/j.jacl.2022.01.007
Abstract: BACKGROUND We found a large family with familial hypercholesterolemia (FH) that included 7 siblings who all developed myocardial infarction. OBJECTIVE The aim of this study was to identify the pathogenic gene underlying FH in the… read more here.
Keywords: large family; duplication; ldlr gene; family familial ... See more keywords
LDLR gene polymorphism (rs688) affects susceptibility to cardiovascular disease in end-stage kidney disease patients
Sign Up to like & getrecommendations! Published in 2021 at "BMC Nephrology"
DOI: 10.1186/s12882-021-02532-6
Abstract: Background The low-density lipoprotein receptor (LDLR) plays a significant role in maintaining the cellular cholesterol homeostasis. Mutations in the LDLR gene can lead to a significant rise in plasma LDL levels that may result in… read more here.
Keywords: risk; ldlr gene; disease; cardiovascular disease ... See more keywords
Calling and Phasing of Single-Nucleotide and Structural Variants of the LDLR Gene Using Oxford Nanopore MinION
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24054471
Abstract: The LDLR locus has clinical significance for lipid metabolism, Mendelian familial hypercholesterolemia (FH), and common lipid metabolism-related diseases (coronary artery disease and Alzheimer’s disease), but its intronic and structural variants are underinvestigated. The aim of… read more here.
Keywords: oxford nanopore; gene using; calling phasing; structural variants ... See more keywords