نتایج جستجو برای: هایپرکلسترولمی فامیلیژن ldlr pcr

تعداد نتایج: 178046  

Journal: :Clinical chemistry 2006
Trine Ranheim Mari Ann Kulseth Knut Erik Berge Trond Paul Leren

BACKGROUND Sequence variations in the LDL receptor (LDLR) gene cause defects of LDLR protein production and function through different molecular mechanisms. Here we describe a cell model system for the phenotypic characterization of sequence variations in the LDLR gene. Well-known sequence variations belonging to LDLR classes 2 to 5 (p.G565V, p.I161D, p.Y828C, and p.V429M) were studied in CHO a...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1994
F Hofer M Gruenberger H Kowalski H Machat M Huettinger E Kuechler D Blaas

A protein binding to a minor-group human rhinovirus (HRV2) was purified from HeLa cell culture supernatant. The amino acid sequences of tryptic peptides showed identity with the human low density lipoprotein (LDL) receptor (LDLR). LDL and HRV2 mutually competed for binding sites on human fibroblasts. Cells down-regulated for LDLR expression yielded much less HRV2 upon infection than cells with ...

Journal: :Journal of lipid research 1996
V A Mustad J L Ellsworth A D Cooper P M Kris-Etherton T D Etherton

The present study was conducted to determine the effects of dietary fatty acids on hepatic LDL receptor (LDLr) protein abundance and mRNA levels. Sixty pigs were randomized into 10 groups and fed corn-soybean meal diets containing three cholesterol levels (0.25%, 0.5%, and 1.0%, w/w) with no added fat, or fats rich (30% of calories) in palmitic acid or linoleic acid. A control group was fed the...

2016
Fei Cheng Laura Twardowski Kurt Reifenberg Kerstin Winter Antje Canisius Eva Pross Jianglin Fan Edgar Schmitt Leonard D. Shultz Karl J. Lackner Michael Torzewski

This study focused on the unique properties of both the Ldlr knockout defect (closely mimicking the human situation) and the BALB/c (C) inbred mouse strain (Th-2 slanted immune response). We generated two immunodeficient strains with severe combined B- and T-cell immunodeficiency with or without a complete lack of natural killer cells to revisit the role of adaptive immune responses on atheroge...

Journal: :acta medica iranica 0
seyed hamid jamaldini department of genetics, genetic research center, university of social welfare and rehabilitation sciences, tehran, iran. mojgan babanejad department of genetics, genetic research center, university of social welfare and rehabilitation sciences, tehran, iran. reza mozaffari department of genetics, cardiogenetic research center, tehran, iran-department of genetics, shahid rajaie cardiovascular medical & research center, tehran, iran. nooshin nikzat department of genetics, genetic research center, university of social welfare and rehabilitation sciences, tehran, iran. khadijeh jalalvand department of genetics, genetic research center, university of social welfare and rehabilitation sciences, tehran, iran. azadeh badiei department of genetics, genetic research center, university of social welfare and rehabilitation sciences, tehran, iran.

coronary artery disease (cad) is the leading cause of mortality in many parts of the world. genome-wide association studies (gwas) have identified several genetic variants associated with cad in low-density lipoprotein receptor (ldlr) locus. this study was evaluated the possible association of genetic markers at ldlr locus with cad irrespective to lipid profile and as well as the association of...

Journal: :Journal of virology 2014
Gulam Hussain Syed Huihui Tang Mohsin Khan Tarek Hassanein Jingwen Liu Aleem Siddiqui

UNLABELLED Lipids play a crucial role in multiple aspects of hepatitis C virus (HCV) life cycle. HCV modulates host lipid metabolism to enrich the intracellular milieu with lipids to facilitate its proliferation. However, very little is known about the influence of HCV on lipid uptake from bloodstream. Low-density lipoprotein receptor (LDLR) is involved in uptake of cholesterol rich low-density...

Journal: :Circulation. Cardiovascular genetics 2011
Puneetpal Singh Mario Di Napoli Monica Singh

BACKGROUND In humans, the E4 allele of the apolipoprotein E gene is associated with increased coronary heart disease risk. Surprisingly, in rodents, apolipoprotein E4 only accelerates the atherosclerotic process when transgenic for the human low-density lipoprotein receptor (LDLR) protein. We therefore investigated whether the LDLR locus interacted with the apolipoprotein E gene genotype on cor...

Journal: :Arteriosclerosis, thrombosis, and vascular biology 2016
Yacine Boulaftali A Phillip Owens Ashley Beale Raymond Piatt Caterina Casari Robert H Lee Pamela B Conley David S Paul Nigel Mackman Wolfgang Bergmeier

OBJECTIVE Platelets are important for the development and progression of atherosclerotic lesions. However, relatively little is known about the contribution of platelet signaling to this pathological process. Our recent work identified 2 independent, yet synergistic, signaling pathways that lead to the activation of the small GTPase Rap1; one mediated by the guanine nucleotide exchange factor, ...

2017
Hongyan Shu Jingwei Chi Jing Li Wei Zhang Wenshan Lv Jie Wang Yujie Deng Xu Hou Yangang Wang

Familial hypercholesterolemia (FH) is an inherited disorder characterized by elevation of serum cholesterol bound to low-density lipoprotein. Mutations in LDLR are the major factors responsible for FH. In this study, we recruited a four-generation Chinese family with FH and identified the clinical features of hypercholesterolemia. All affected individuals shared a novel indel mutation (c.1885_1...

Journal: :Neuron 2009
Jungsu Kim Joseph M. Castellano Hong Jiang Jacob M. Basak Maia Parsadanian Vi Pham Stephanie M. Mason Steven M. Paul David M. Holtzman

Apolipoprotein E (APOE) is the strongest genetic risk factor for Alzheimer's disease (AD). Previous studies suggest that the effect of apoE on amyloid-beta (A beta) accumulation plays a major role in AD pathogenesis. Therefore, understanding proteins that control apoE metabolism may provide new targets for regulating A beta levels. LDLR, a member of the LDL receptor family, binds to apoE, yet i...

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