The rs2294918 E434K variant modulates patatin-like phospholipase domain-containing 3 expression and liver damage. (Q53264468)

12 May 2018

title

The rs2294918 E434K variant modulates patatin-like phospholipase domain-containing 3 expression and liver damage. (English)

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12 May 2018

author

Benedetta Donati

1

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12 May 2018

Benedetta Maria Motta

2

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12 May 2018

Piero Pingitore

3

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12 May 2018

Alessandro Pietrelli

5

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12 May 2018

Anna Alisi

6

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12 May 2018

Chao Xing

8

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12 May 2018

Rosellina Margherita Mancina

12

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12 May 2018

Luca Valenti

19

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12 May 2018

Marica Meroni

Marica Meroni

4

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Raffaela Rametta

Raffaela Rametta

11

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Stefano Romeo

Stefano Romeo

18

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Valerio Nobili

Valerio Nobili

17

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Antonio Craxì

15

Antonio Craxì

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12 May 2018

Paola Dongiovanni

9

Paola Dongiovanni

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12 May 2018

Silvia Fargion

16

Silvia Fargion

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12 May 2018

Anna Ludovica Fracanzani

14

Anna Ludovica Fracanzani

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12 May 2018

author name string

Salvatore Petta

7

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12 May 2018

Benedetta del Menico

10

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12 May 2018

Sara Badiali

13

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12 May 2018

language of work or name

English

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publication date

14 January 2016

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12 May 2018

number of pages

12

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based on heuristic

inferred from page(s)

published in

Hepatology

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12 May 2018

volume

63

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12 May 2018

issue

3

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12 May 2018

page(s)

787-798

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12 May 2018

Nonalcoholic fatty liver disease: a feature of the metabolic syndrome

cites work

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Expanding the natural history of nonalcoholic steatohepatitis: from cryptogenic cirrhosis to hepatocellular carcinoma.

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The burden of liver disease in Europe: a review of available epidemiological data

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Prevalence of hepatic steatosis in an urban population in the United States: impact of ethnicity

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Genetic predisposition in NAFLD and NASH: impact on severity of liver disease and response to treatment.

21 January 2018

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Heritability of nonalcoholic fatty liver disease

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Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease

21 January 2018

1 reference

Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes

21 January 2018

1 reference

Meta-analysis of the influence of I148M variant of patatin-like phospholipase domain containing 3 gene (PNPLA3) on the susceptibility and histological severity of nonalcoholic fatty liver disease

21 January 2018

1 reference

Patatin-like phospholipase domain containing-3 gene I148M polymorphism, steatosis, and liver damage in hereditary hemochromatosis.

21 January 2018

1 reference

Variant in PNPLA3 is associated with alcoholic liver disease

21 January 2018

1 reference

Homozygosity for the patatin-like phospholipase-3/adiponutrin I148M polymorphism influences liver fibrosis in patients with nonalcoholic fatty liver disease.

21 January 2018

1 reference

PNPLA3 I148M variant and hepatocellular carcinoma: a common genetic variant for a rare disease.

21 January 2018

1 reference

Association between the PNPLA3 (rs738409 C>G) variant and hepatocellular carcinoma: Evidence from a meta-analysis of individual participant data

21 January 2018

1 reference

PNPLA3 mediates hepatocyte triacylglycerol remodeling

21 January 2018

1 reference

A sequence variation (I148M) in PNPLA3 associated with nonalcoholic fatty liver disease disrupts triglyceride hydrolysis

21 January 2018

1 reference

Adiponutrin functions as a nutritionally regulated lysophosphatidic acid acyltransferase

21 January 2018

1 reference

Role of patatin-like phospholipase domain-containing 3 on lipid-induced hepatic steatosis and insulin resistance in rats

21 January 2018

1 reference

Chronic overexpression of PNPLA3I148M in mouse liver causes hepatic steatosis

21 January 2018

1 reference

Genome-wide scan revealed that polymorphisms in the PNPLA3, SAMM50, and PARVB genes are associated with development and progression of nonalcoholic fatty liver disease in Japan.

21 January 2018

1 reference

Genetic variants in PNPLA3 and risk of non-alcoholic fatty liver disease in a Han Chinese population

21 January 2018

1 reference

Exome-wide association study identifies a TM6SF2 variant that confers susceptibility to nonalcoholic fatty liver disease

21 January 2018

1 reference

Using extreme phenotype sampling to identify the rare causal variants of quantitative traits in association studies

21 January 2018

1 reference

I148M patatin-like phospholipase domain-containing 3 gene variant and severity of pediatric nonalcoholic fatty liver disease

21 January 2018

1 reference

A common variant in the patatin-like phospholipase 3 gene (PNPLA3) is associated with fatty liver disease in obese children and adolescents

21 January 2018

1 reference

The 148M allele of the PNPLA3 gene is associated with indices of liver damage early in life.

21 January 2018

1 reference

Increased insulin receptor substrate 2 expression is associated with steatohepatitis and altered lipid metabolism in obese subjects.

21 January 2018

1 reference

The Fatty Liver Index: a simple and accurate predictor of hepatic steatosis in the general population

21 January 2018

1 reference

Design and validation of a histological scoring system for nonalcoholic fatty liver disease

21 January 2018

1 reference

Recombinant PNPLA3 protein shows triglyceride hydrolase activity and its I148M mutation results in loss of function

21 January 2018

1 reference

Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

21 January 2018

1 reference

Haploview: analysis and visualization of LD and haplotype maps

21 January 2018

1 reference

PLINK: a tool set for whole-genome association and population-based linkage analyses

21 January 2018

1 reference

Morbid obesity exposes the association between PNPLA3 I148M (rs738409) and indices of hepatic injury in individuals of European descent

21 January 2018

1 reference

Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL.

21 January 2018

1 reference

Pnpla3I148M knockin mice accumulate PNPLA3 on lipid droplets and develop hepatic steatosis

21 January 2018

1 reference

Pnpla3/Adiponutrin deficiency in mice does not contribute to fatty liver disease or metabolic syndrome

21 January 2018

1 reference

Patatin-like phospholipase domain-containing 3/adiponutrin deficiency in mice is not associated with fatty liver disease

21 January 2018

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Paradoxical dissociation between hepatic fat content and de novo lipogenesis due to PNPLA3 sequence variant.

21 January 2018

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PNPLA3 variants specifically confer increased risk for histologic nonalcoholic fatty liver disease but not metabolic disease

21 January 2018

1 reference

Targeted-bisulfite sequence analysis of the methylation of CpG islands in genes encoding PNPLA3, SAMM50, and PARVB of patients with non-alcoholic fatty liver disease.

21 January 2018

1 reference

Genetic variation in the PNPLA3 gene is associated with alcoholic liver injury in caucasians

21 January 2018

1 reference

Patatin-Like phospholipase domain-containing 3 I148M polymorphism, steatosis, and liver damage in chronic hepatitis C

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Patatin-like phospholipase domain-containing 3 (PNPLA3) I148M (rs738409) affects hepatic VLDL secretion in humans and in vitro

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HEP.28370

1 reference

12 May 2018

PubMed ID

26605757

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12 May 2018