Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels - Wikidata - wikimedia - TriplyDB

Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels

Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels

http://www.wikidata.org/entity/Q34478587

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SNPs associated with cerebrospinal fluid phospho-tau levels influence rate of decline in Alzheimer's disease Genetic variation in an individual human exome Finding the missing heritability of complex diseases Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction.Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease In search of low-frequency and rare variants affecting complex traits Ezetimibe therapy: mechanism of action and clinical update Plant sterols and cardiovascular disease: a systematic review and meta-analysis A comprehensive assay for targeted multiplex amplification of human DNA sequences A common allele on chromosome 9 associated with coronary heart disease OSBPL10, a novel candidate gene for high triglyceride trait in dyslipidemic Finnish subjects, regulates cellular lipid metabolism.Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk Molecular mechanisms of disease-causing missense mutations Mapping asthma-associated variants in admixed populations Genome-wide linkage on chromosome 10q26 for a dimensional scale of major depression Investigation and functional characterization of rare genetic variants in the adipose triglyceride lipase in a large healthy working population The small GTPase Cdc42 interacts with Niemann-Pick C1-like 1 (NPC1L1) and controls its movement from endocytic recycling compartment to plasma membrane in a cholesterol-dependent manner Progress in methods for rare variant association Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.Mitochondrial DNA sequence variation is associated with free-living activity energy expenditure in the elderly An optimized procedure for the design and evaluation of Ecotilling assays.Methods for collapsing multiple rare variants in whole-genome sequence data.Adjusting family relatedness in data-driven burden test of rare variants Performance of statistical methods on CHARGE targeted sequencing data The role of rare variants in systolic blood pressure: analysis of ExomeChip data in HyperGEN African Americans Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data.Polymorphisms in the WNK1 gene are associated with blood pressure variation and urinary potassium excretion.Discovery of rare variants via sequencing: implications for the design of complex trait association studies.Detecting rare variants for complex traits using family and unrelated data.Accurate detection and genotyping of SNPs utilizing population sequencing data Polymorphisms in the hepatic lipase gene affect plasma HDL-cholesterol levels in a Turkish population.Design of association studies with pooled or un-pooled next-generation sequencing data.The impact of rare and low-frequency genetic variants in common disease Pharmacogenetics and personal genomes.A covering method for detecting genetic associations between rare variants and common phenotypes.A novel adaptive method for the analysis of next-generation sequencing data to detect complex trait associations with rare variants due to gene main effects and interactions.The genetics of autism: key issues, recent findings, and clinical implications.An evolutionary framework for association testing in resequencing studies.Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review.Efficient utilization of rare variants for detection of disease-related genomic regions

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Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels

http://www.wikidata.org/entity/Q34478587

description

2006 nî lūn-bûn

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2006 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2006 թվականի հունվարին հրատարակված գիտական հոդված

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2006年の論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年论文

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name

Multiple rare variants in NPC1 ...... low-density lipoprotein levels

@ast

Multiple rare variants in NPC1 ...... low-density lipoprotein levels

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Multiple rare variants in NPC1 ...... low-density lipoprotein levels

@nl

type

label

Multiple rare variants in NPC1 ...... low-density lipoprotein levels

@ast

Multiple rare variants in NPC1 ...... low-density lipoprotein levels

@en

Multiple rare variants in NPC1 ...... low-density lipoprotein levels

@nl

prefLabel

Multiple rare variants in NPC1 ...... low-density lipoprotein levels

@ast

Multiple rare variants in NPC1 ...... low-density lipoprotein levels

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Multiple rare variants in NPC1 ...... low-density lipoprotein levels

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PNAS.0508483103

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Proceedings of the National Academy of Sciences of the United States of America

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Multiple rare variants in NPC1 ...... low-density lipoprotein levels

@en

P2093

Gloria L Vega

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Helen H Hobbs

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Jonathan C Cohen

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Saleemah Fahmi

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Scott M Grundy

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Sophie Esmail

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P2860

Topological analysis of Niemann-Pick C1 protein reveals that the membrane orientation of the putative sterol-sensing domain is identical to those of 3-hydroxy-3-methylglutaryl-CoA reductase and sterol regulatory element binding protein cleavage-acti

Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

Are rare variants responsible for susceptibility to complex diseases?

Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease

Inference of population structure using multilocus genotype data

The amino-acid mutational spectrum of human genetic disease

NPC1L1 haplotype is associated with inter-individual variation in plasma low-density lipoprotein response to ezetimibe

The structure of haplotype blocks in the human genome

Haploview: analysis and visualization of LD and haplotype maps

Genetic structure of human populations

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1810-1815

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10.1073/PNAS.0508483103

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103

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Alexander Pertsemlidis

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7325366

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16449388

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1413637

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