Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients-Reference-Cited by-同舟云学术

Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients

Published:2019-10 Issue: Volume:289 Page:101-108
ISSN:0021-9150
Container-title:Atherosclerosis
language:en
Short-container-title:Atherosclerosis

Author:

Hori Mika^ORCID,Ohta Naotaka,Takahashi Atsushi,Masuda Hiroaki,Isoda Rieko,Yamamoto Suguru,Son Cheol,Ogura Masatsune,Hosoda Kiminori,Miyamoto Yoshihiro,Harada-Shiba Mariko

Funder

Ministry of Health, Labour and Welfare

JSPS

Japan Agency for Medical Research and Development

Intramural Research Fund for Cardiovascular Diseases of the National Cerebral and Cardiovascular Center

Japan Heart Foundation

Astellas

Takeda Science Foundation

Kanae Foundation for the Promotion of Medical Science

Novartis

Japanese Circulation Society

Publisher

Elsevier BV

Subject

Cardiology and Cardiovascular Medicine

Reference34 articles.

1. Familial hypercholesterolemia;Goldstein,2001

2. Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan;Mabuchi;Atherosclerosis,2011

3. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society;Nordestgaard;Eur. Heart J.,2013

4. Expression of the familial hypercholesterolemia gene in heterozygotes: mechanism for a dominant disorder in man;Brown;Science,1974

5. Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding;Innerarity;Proc. Natl. Acad. Sci. U. S. A.,1987

Cited by 38 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Japanese Woman with Polygenic Familial Hypercholesteremia Who Exhibited Trivial Atherosclerosis;Internal Medicine;2024-08-01

2. A Japanese Case of Familial Hypercholesterolemia with a Protein-truncating Variant in LDLR and a PCSK9 Variant without Significant Atherosclerosis but Showing Remarkable Achilles Tendon Thickening;Internal Medicine;2024-08-01

3. A Case Report of Hemochromatosis Secondary to Severe Hyperlipidemia and Review of Relevant Literature;Advances in Clinical Medicine;2024

4. A Case of Multiple Intracranial Major Artery Stenoses With Coexisting PCSK9 p.E32K and RNF213 p.R4810K Variants;Neurology Genetics;2023-10

5. Amplified Risk of Intracranial Artery Stenosis/Occlusion Associated With RNF213 p.R4810K in Familial Hypercholesterolemia;JACC: Asia;2023-08