Exome Sequencing, ANGPTL3 Mutations, and Familial Combined Hypolipidemia
By K. Musunuru, J. Pirruccello, R. Do, G. Peloso, C. Guiducci, C. Sougnez, K. Garimella, Sheila Fisher, J. Abreu, A. Barry and 17 more. New England Journal of Medicine, 2010
742 citations recorded by the source corpus.
SUMMARY We sequenced all protein-coding regions of the genome (the “exome”) in two family members with combined hypolipidemia, marked by extremely low plasma levels of low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, and triglycerides. These two participants were compound heterozygotes for two distinct nonsense mutations in ANGPTL3 (encoding the angiopoietin-like 3 protein). ANGPTL3 has been reported to inhibit lipoprotein lipase and endothelial lipase, thereby increasing plasma triglyceride and HDL cholesterol levels in rodents. Our finding of ANGPTL3 mutations highlights a role for the gene in LDL cholesterol metabolism in humans and shows the usefulness of exome sequencing for identification of novel genetic causes of inherited disorders. (Funded by the National Human Genome Research Institute and others.)
Subfields: Cancer Research, Cardiology and Cardiovascular Medicine, Endocrinology, Diabetes and Metabolism
View Paper: https://www.semanticscholar.org/paper/7a08f43842ef8f01e6157b02f9d77b24daf3cdde
How researchers see this paper
The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.
In Cancer Research
In Endocrinology, Diabetes and Metabolism
Citations in the corpus
- Bile Acid Signaling in Metabolic Disease and Drug Therapy (2014, background): “ANGPTL3 and GPAM genetic polymorphisms are significantly associated with plasma lipid levels (Musunuru et al., 2010; Teslovich et al., 2010).”
- Development and Applications of CRISPR-Cas9 for Genome Engineering (2014, positive): “…the CCR5 receptor in lymphocytes (Lombardo et al., 2007) may be a viable strategy for circumventing HIV infection, whereas deletion of PCSK9 (Cohen et al., 2005) or angiopoietin (Musunuru et al., 2010) may provide therapeutic effects against statin-resistant hypercholesterolemia or hyperlipidemia.”
- The Next-Generation Sequencing Revolution and Its Impact on Genomics (2013, neutral): “…unrelated (Gilissen et al., 2010) STIM1 Kaposi sarcoma one patient (Byun et al., 2010) ANGPTL3 Familial combined hypolipidemia two family members (Musunuru et al., 2010) ACAD9 Complex I deficiency one patient (Haack et al., 2010) SETBP1 Schinzel-Giedion syndrome four unrelated (Hoischen et al.,…”