Identification and characterization of LDL receptor gene mutations in hyperlipidemic Chinese

Chang, Jui Hung; Pan, Ju Pin; Tai, Der Yan; Huang, Ai Chun; Li, Pi Hung; Ho, Hui Ling; Hsieh, Hsiao-Yun; Chou, Shiu Ching; Lin, Wen Lang; Lo, Eric; Chang, Ching Yu; Tseng, Jerming; Su, Ming; Lee-Chen, Guey Jen

doi:10.1194/jlr.m200470-jlr200

Cited by 36 publications

(29 citation statements)

References 37 publications

(78 reference statements)

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“…3B). This is in accordance with Chang et al (34 ), who reported that sequence variations in the epidermal growth factor domain of LDLR give rise to an endosomal staining pattern. This is the first time that a cell model has been used to apply many different methods for systematically distinguishing the different classes of sequence variations.…”

Section: Discussionsupporting

confidence: 81%

Model System for Phenotypic Characterization of Sequence Variations in the LDL Receptor Gene

Ranheim

Kulseth²,

Leren³

2006

Clinical Chemistry

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Section: Discussionsupporting

confidence: 81%

Model System for Phenotypic Characterization of Sequence Variations in the LDL Receptor Gene

Ranheim

Kulseth²,

Leren³

2006

Clinical Chemistry

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“…On the basis of the data reported thus far, it is difficult to determine whether there are any hot spots of mutations in Koreans. LDLR mutations reported in Koreans have shown little similarities with those reported in other Asian countries such as Japan 24) or Taiwan 25,26) . study 6) , the mean LDL-C level was higher than the levels in the abovementioned study 5) .…”

Section: Genetic Characteristicsmentioning

confidence: 90%

Characteristics and Vascular Complications of Familial Hypercholesterolemia in Korea

Lee

2016

JAT

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“…2A), so all attention has to be given to mutations that do not fulfil all these criteria and functional studies should be performed. Unfortunately only a few, for example A410T [13] or 313 +1 [14] have been proved by independent functional studies to be the causal mutation.…”

Section: Discussionmentioning

confidence: 99%

Familial hypercholesterolaemia in Portugal

Bourbon

Alves²,

Medeiros³

et al. 2008

Atherosclerosis

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Familial hypercholesterolaemia (FH) is characterised clinically by an increased level of circulating LDL cholesterol that leads to lipid accumulation in tendons and arteries, premature atherosclerosis and increased risk of coronary heart disease (CHD). Although Portugal should have about 20,000 cases, this disease is severely under-diagnosed in our country, this being the first presentation of Portuguese data on FH. A total of 602 blood samples were collected from 184 index patients and 418 relatives from several centres throughout Portugal. Fifty-three different mutations were found in 83 index patients, 79 heterozygous and 4 with two defective LDLR alleles. Additionally, 4 putative alterations were found in 8 patients but were not considered mutations causing disease, mainly because they did not co-segregate with hypercholesterolaemia in the families. Three unrelated patients were found to be heterozygous for the APOB 3500 mutation and two unrelated patients were found to be heterozygous for a novel mutation in PCSK9, predicted to cause a single amino acid substitution, D374H. Cascade screening increased the number of FH patients identified genetically to 204. The newly identified FH patients are now receiving counselling and treatment based on the genetic diagnosis. The early identification of FH patients can increase their life expectancy and quality of life by preventing the development of premature CHD if patients receive appropriate pharmacological treatment.

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Identification and characterization of LDL receptor gene mutations in hyperlipidemic Chinese

Cited by 36 publications

References 37 publications

Model System for Phenotypic Characterization of Sequence Variations in the LDL Receptor Gene

Model System for Phenotypic Characterization of Sequence Variations in the LDL Receptor Gene

Characteristics and Vascular Complications of Familial Hypercholesterolemia in Korea

Familial hypercholesterolaemia in Portugal

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