Novel CREB3L3 Nonsense Mutation in a Family With Dominant Hypertriglyceridemia-Reference-Cited by-同舟云学术

Novel CREB3L3 Nonsense Mutation in a Family With Dominant Hypertriglyceridemia

Published:2015-12 Issue:12 Volume:35 Page:2694-2699
ISSN:1079-5642
Container-title:Arteriosclerosis, Thrombosis, and Vascular Biology
language:en
Short-container-title:Arterioscler Thromb Vasc Biol.

Author:

Cefalù Angelo B.¹,Spina Rossella¹,Noto Davide¹,Valenti Vincenza¹,Ingrassia Valeria¹,Giammanco Antonina¹,Panno Maria D.¹,Ganci Antonina¹,Barbagallo Carlo M.¹,Averna Maurizio R.¹

Affiliation:

1. From the Dipartimento Biomedico di Medicina Interna e Specialistica (DIBIMIS), University of Palermo, Palermo, Italy (A.B.C., R.S., D.N., V.I., A. Giammanco, M.D.P., A. Ganci, C.M.B., M.R.A.); and Molecular Biology Diagnostic Laboratory, Central Laboratory of Advanced Diagnosis and Biomedical Research (CLADIBIOR), AOUP “Paolo Giaccone”, Palermo, Italy (A.B.C., R.S., D.N., V.V., V.I., M.R.A.).

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Cardiology and Cardiovascular Medicine

Reference20 articles.

1. The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management

2. Hypertriglyceridemia: its etiology, effects and treatment

3. Excess of Rare Variants in Non–Genome-Wide Association Study Candidate Genes in Patients With Hypertriglyceridemia

4. Genetic bases of hypertriglyceridemic phenotypes

5. A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia

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3. Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene;Italian Journal of Pediatrics;2022-05-04

4. Rare coding variants in 35 genes associate with circulating lipid levels—A multi-ancestry analysis of 170,000 exomes;The American Journal of Human Genetics;2022-01

5. CREBH normalizes dyslipidemia and halts atherosclerosis in diabetes by decreasing circulating remnant lipoproteins;Journal of Clinical Investigation;2021-11-15