Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia - Wikidata - wikimedia - TriplyDB

Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

http://www.wikidata.org/entity/Q28295479

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Exome sequencing identifies ZNF644 mutations in high myopia Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family Human genome sequencing in health and disease Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia Atypical angiopoietin-like protein that regulates ANGPTL3 A map of human genome variation from population-scale sequencing Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia Triglyceride-Rich Lipoproteins and Remnants: Targets for Therapy?The ANGPTL3-4-8 model, a molecular mechanism for triglyceride trafficking The role of ANGPTL3 in controlling lipoprotein metabolism The role of large pedigrees in an era of high-throughput sequencing Exploring predisposition and treatment response--the promise of genomics Disease gene identification strategies for exome sequencing Genetics of lipid traits and relationship to coronary artery disease Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk Computational and statistical approaches to analyzing variants identified by exome sequencing Exome sequencing and complex disease: practical aspects of rare variant association studies Amish revisited: next-generation sequencing studies of psychiatric disorders among the Plain people Next-generation gene discovery for variants of large impact on lipid traits Insights from exome sequencing for endocrine disorders Development and applications of CRISPR-Cas9 for genome engineering.Bile acid signaling in metabolic disease and drug therapy Commentary: the year in endocrine genetics for basic scientists Genetic mapping and exome sequencing identify variants associated with five novel diseases Mice lacking ANGPTL8 (Betatrophin) manifest disrupted triglyceride metabolism without impaired glucose homeostasis Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese family Exome sequencing: a transformative technology Genomic sequencing in clinical trials Angiopoietin-Like Proteins: A Comprehensive Look Pacific biosciences sequencing technology for genotyping and variation discovery in human data Association between familial hypobetalipoproteinemia and the risk of diabetes. Is this the other side of the cholesterol-diabetes connection? A systematic review of literature.Exome sequencing in suspected monogenic dyslipidemias.Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.Genetics of glucose homeostasis: implications for insulin resistance and metabolic syndrome.Genetic control of high density lipoprotein-cholesterol in AcB/BcA recombinant congenic strains of mice.PBAP: a pipeline for file processing and quality control of pedigree data with dense genetic markers Focused Analysis of Exome Sequencing Data for Rare Germline Mutations in Familial and Sporadic Lung Cancer Next-generation sequencing: from understanding biology to personalized medicine.Mutations in the ANGPTL3 gene and familial combined hypolipidemia: a clinical and biochemical characterization.

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Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

http://www.wikidata.org/entity/Q28295479

description

2010 nî lūn-bûn

@nan

2010 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի դեկտեմբերին հրատարակված գիտական հոդված

@hy

2010年の論文

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2010年論文

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2010年論文

@zh-hant

2010年論文

@zh-hk

2010年論文

@zh-mo

2010年論文

@zh-tw

2010年论文

@wuu

name

Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

@ast

Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

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Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

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type

label

Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

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Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

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Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

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prefLabel

Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

@ast

Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

@en

Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

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The New England Journal of Medicine

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Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

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Andrew J Barry

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Andrew Kernytsky

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Elena Gonzalez

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Eric Banks

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Gina M Peloso

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Gustav Schonfeld

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Helen H Hobbs

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James C Engert

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James P Pirruccello

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Jonathan C Cohen

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P2860

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

Angiopoietin-like protein3 regulates plasma HDL cholesterol through suppression of endothelial lipase

Exome sequencing identifies the cause of a mendelian disorder

Targeted capture and massively parallel sequencing of 12 human exomes

Biological, clinical and population relevance of 95 loci for blood lipids

Familial hypobetalipoproteinemia: genetics and metabolism

ANGPTL3 decreases very low density lipoprotein triglyceride clearance by inhibition of lipoprotein lipase

Hepatic proprotein convertases modulate HDL metabolism

Angptl3 regulates lipid metabolism in mice

A decreased expression of angiopoietin-like 3 is protective against atherosclerosis in apoE-deficient mice

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2220-7

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scholarly article

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292165

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10.1056/NEJMOA1002926

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23

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363

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Sekar Kathiresan

Candace Guiducci

Kristian Cibulskis

Lauren Ambrogio

Mark Joseph Daly

David Altshuler

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2010-12-02T00:00:00Z

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47413612

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20942659

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