Investigation and functional characterization of rare genetic variants in the adipose triglyceride lipase in a large healthy working population

Investigation and functional characterization of rare genetic variants in the adipose triglyceride lipase in a large healthy working population

Item
http://www.wikidata.org/entity/Q28476475
Mapping asthma-associated variants in admixed populationsCausal and synthetic associations of variants in the SERPINA gene cluster with alpha1-antitrypsin serum levels.Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients.The minimal domain of adipose triglyceride lipase (ATGL) ranges until leucine 254 and can be activated and inhibited by CGI-58 and G0S2, respectively.Digging into the extremes: a useful approach for the analysis of rare variants with continuous traits?Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function.SNPflow: a lightweight application for the processing, storing and automatic quality checking of genotyping assays.Genetic variation in Tanis was associated with elevating plasma triglyceride level in Chinese nondiabetic subjectsSymptomatic lipid storage in carriers for the PNPLA2 gene.Meta analysis of candidate gene variants outside the LPA locus with Lp(a) plasma levels in 14,500 participants of six White European cohortsCritical roles for α/β hydrolase domain 5 (ABHD5)/comparative gene identification-58 (CGI-58) at the lipid droplet interface and beyond.Whole-Genome Linkage Scan Combined With Exome Sequencing Identifies Novel Candidate Genes for Carotid Intima-Media ThicknessNovel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy
P2860

Investigation and functional characterization of rare genetic variants in the adipose triglyceride lipase in a large healthy working population

Item
http://www.wikidata.org/entity/Q28476475
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
@ja
2010年論文
@yue
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
Investigation and functional c ...... rge healthy working population
@ast
Investigation and functional c ...... rge healthy working population
@en
Investigation and functional c ...... rge healthy working population
@nl
type
label
Investigation and functional c ...... rge healthy working population
@ast
Investigation and functional c ...... rge healthy working population
@en
Investigation and functional c ...... rge healthy working population
@nl
prefLabel
Investigation and functional c ...... rge healthy working population
@ast
Investigation and functional c ...... rge healthy working population
@en
Investigation and functional c ...... rge healthy working population
@nl
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Investigation and functional c ...... rge healthy working population
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10.1371/JOURNAL.PGEN.1001239
P407
P433
P478
P50
P577
P5875
P698
P921
P932