Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels
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SNPs associated with cerebrospinal fluid phospho-tau levels influence rate of decline in Alzheimer's diseaseGenetic variation in an individual human exomeFinding the missing heritability of complex diseasesMutations 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 diseaseIn search of low-frequency and rare variants affecting complex traitsEzetimibe therapy: mechanism of action and clinical updatePlant sterols and cardiovascular disease: a systematic review and meta-analysisA comprehensive assay for targeted multiplex amplification of human DNA sequencesA common allele on chromosome 9 associated with coronary heart diseaseOSBPL10, 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 riskMolecular mechanisms of disease-causing missense mutationsMapping asthma-associated variants in admixed populationsGenome-wide linkage on chromosome 10q26 for a dimensional scale of major depressionInvestigation and functional characterization of rare genetic variants in the adipose triglyceride lipase in a large healthy working populationThe 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 mannerProgress in methods for rare variant associationWhole-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 elderlyAn 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 variantsPerformance of statistical methods on CHARGE targeted sequencing dataThe role of rare variants in systolic blood pressure: analysis of ExomeChip data in HyperGEN African AmericansMethods 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 dataPolymorphisms 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 diseasePharmacogenetics 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
P2860
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P2860
Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels
description
2006 nî lūn-bûn
@nan
2006 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
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
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
@en
Multiple rare variants in NPC1 ...... low-density lipoprotein levels
@nl
P2093
P2860
P356
P1476
Multiple rare variants in NPC1 ...... low-density lipoprotein levels
@en
P2093
Gloria L Vega
Helen H Hobbs
Jonathan C Cohen
Saleemah Fahmi
Scott M Grundy
Sophie Esmail
P2860
P304
P356
10.1073/PNAS.0508483103
P407
P577
2006-01-31T00:00:00Z