Associated Papers
A case of presumed homozygous familial hypercholesterolemia.
Speron D et al.
Journal of Clinical Lipidology, 2026
Analysis of a deeply-phenotyped familial hypercholesterolemia cohort from Mexico shows a role for both rare and common alleles across known dyslipidemia genes and reveals structural variation in a novel locus.
Katsanis N et al.
Human Genomics, 2025
PCSK9 Promotes LDLR Degradation by Preventing SNX17-Mediated LDLR Recycling.
Guan Y et al.
Circulation, 2025
Performance of LDL-C only compared to the Dutch Lipid Clinic Network Score for screening of familial hypercholesterolaemia: the Austrian experience and literature review.
Ferch M et al.
European Journal of Preventive Cardiology, 2025
Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank.
Gandhi GD et al.
Journal of Translational Medicine, 2022
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Halford JL et al.
Nature Communications, 2022
Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19.
López-Rodríguez R et al.
Scientific Reports, 2022
Familial Hypercholesterolemia in Asia Pacific: A Review of Epidemiology, Diagnosis, and Management in the Region.
Kalra S et al.
Journal of Atherosclerosis and Thrombosis, 2021
Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.
Galicia-Garcia U et al.
Scientific Reports, 2020
Cascade screening for familial hypercholesterolemia-identification of the C308Y mutation in multiple family members and relatives for the first time in mainland China.
Jin W et al.
Bmc Medical Genetics, 2019
Molecular modeling of LDLR aids interpretation of genomic variants.
Klee EW et al.
Journal of Molecular Medicine (berlin, Germany), 2019
Familial hypercholesterolemia in China half a century: A review of published literature.
Peng J et al.
Atherosclerosis. Supplements, 2019
Current Status of Familial Hypercholesterolemia in China: A Need for Patient FH Registry Systems.
Chen P et al.
Frontiers in Physiology, 2019
Genetically confirmed familial hypercholesterolemia in outpatients with hypercholesterolemia.
Wang X et al.
Journal of Geriatric Cardiology : Jgc, 2018
The distribution and characteristics of LDL receptor mutations in China: A systematic review.
Jiang L et al.
Scientific Reports, 2015
[The phenotypes of a hypercholesterolemia family with low density lipoprotein receptor exon 13 A606T mutation].
Cheng XY et al.
Zhonghua Nei Ke Za Zhi, 2012
[Research progression of LDLR mutations in Chinese Familial hypercholesterolemia].
Dai YF et al.
Yi Chuan = Hereditas, 2011
Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia.
Chiou KR et al.
The American Journal of Cardiology, 2010
Two mutations in LDLR gene were found in two Chinese families with familial hypercholesterolemia.
Cheng X et al.
Molecular Biology Reports, 2009
Identification and characterization of novel low-density lipoprotein receptor mutations of familial hypercholesterolaemia patients in Taiwan.
Charng MJ et al.
European Journal of Clinical Investigation, 2006
Mutations in low-density lipoprotein receptor gene as a cause of hypercholesterolemia in Taiwan.
Chiu CY et al.
Metabolism: Clinical and Experimental, 2005
[A gene analysis of the low density lipoprotein receptor in Chinese with homozygous familial hyperchol-esterolemia].
Wang D et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2001
Mutations in the low-density lipoprotein receptor gene in Chinese familial hypercholesterolemia patients.
Mak YT et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 1998
Identification of a novel mutation in exon 13 of the LDL receptor gene causing familial hypercholesterolemia in two Spanish families.
Cenarro A et al.
Biochimica Et Biophysica Acta, 1996
Detection of common sequence variations of familial hypercholesterolemia in Taiwan using DNA mass spectrometry.
Chiou KR et al.
Journal of Clinical Lipidology, 0