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- Epidemiology of non-alcoholic and alcoholic fatty liver diseases.Transl Gastroenterol Hepatol. 2020; 5: 16
- Modeling the epidemic of nonalcoholic fatty liver disease demonstrates an exponential increase in burden of disease.Hepatology. 2018; 67: 123-133
- The natural history of nonalcoholic fatty liver disease: a population-based cohort study.Gastroenterology. 2005; 129: 113-121
- Non-alcoholic steatohepatitis.Eur J Gastroenterol Hepatol. 2004; 16 ([published correction appears in Eur J Gastroenterol Hepatol 2005;63(7):241]): 1079-1085
- Recent trend of clinical features in patients with hepatocellular carcinoma.Hepatol Res. 2012; 42: 368-375
- Heritability of nonalcoholic fatty liver disease.Gastroenterology. 2009; 136: 1585-1592
- Genetic contributions to NAFLD: leveraging shared genetics to uncover systems biology.Nat Rev Gastroenterol Hepatol. 2020; 17: 40-52
- Genetic predisposition in nonalcoholic fatty liver disease.Clin Mol Hepatol. 2017; 23: 1-12
- Overview of techniques to account for confounding due to population stratification and cryptic relatedness in genomic data association analyses.Heredity. 2011; 106: 511-519
- Association study designs for complex diseases.Nat Rev Genet. 2001; 2: 91-99
- Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease.Nat Genet. 2008; 40: 1461-1465
- Identification, cloning, expression, and purification of three novel human calcium-independent phospholipase A2 family members possessing triacylglycerol lipase and acylglycerol transacylase activities.J Biol Chem. 2004; 279: 48968-48975
- A common variant in PNPLA3, which encodes adiponutrin, is associated with liver fat content in humans.Diabetologia. 2009; 52: 1056-1060
- A nonsynonymous gene variant in the adiponutrin gene is associated with nonalcoholic fatty liver disease severity.J Lipid Res. 2009; 50: 2111-2116
- Association between PNPLA3 rs738409 polymorphism and nonalcoholic fatty liver disease (NAFLD) susceptibility and severity: a meta-analysis.Medicine (Baltimore). 2019; 98: e14324
- The association of genetic variability in patatin-like phospholipase domain-containing protein 3 (PNPLA3) with histological severity of nonalcoholic fatty liver disease.Hepatology. 2010; 52: 894-903
- 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.Hepatology. 2011; 53: 1883-1894
- I148M patatin-like phospholipase domain-containing 3 gene variant and severity of pediatric nonalcoholic fatty liver disease.Hepatology. 2010; 52: 1274-1280
- Association of the I148M/PNPLA3 variant with elevated alanine transaminase levels in normal-weight and overweight/obese Mexican children.Gene. 2013; 520: 185-188
- 1392 the common adiponutrin (pnpla3) variant is associated with subclinical liver injury already in young age: analysis of a cohort of paediatric patients.J Hepatol. 2013; 58: S559-S560
- PNPLA3 I148M variant and hepatocellular carcinoma: a common genetic variant for a rare disease.Dig Liver Dis. 2013; 45: 619-624
- PNPLA3 (rs738409 C>G) is a common risk variant associated with hepatocellular carcinoma in alcoholic cirrhosis.Hepatology. 2012; 55: 1307-1308
- PNPLA3 I148M (rs738409) genetic variant is associated with hepatocellular carcinoma in obese individuals.Dig Liver Dis. 2012; 44: 1037-1041
- Weight loss allows the dissection of the interaction between abdominal fat and PNPLA3 (adiponutrin) in the liver damage of obese children.J Hepatol. 2013; 59: 1143-1144
- Pnpla3 silencing with antisense oligonucleotides ameliorates nonalcoholic steatohepatitis and fibrosis in Pnpla3 I148M knock-in mice.Mol Metab. 2019; 22: 49-61
- Accumulation of PNPLA3 on lipid droplets is the basis of associated hepatic steatosis.Proc Natl Acad Sci U S A. 2019; 116: 9521-9526
- Cloning of the novel gene TM6SF1 reveals conservation of clusters of paralogous genes between human chromosomes 15q24-->q26 and 19p13.3-->p12.Cytogenet Cell Genet. 2000; 90: 255-260
- TM6SF2 is a regulator of liver fat metabolism influencing triglyceride secretion and hepatic lipid droplet content.Proc Natl Acad Sci U S A. 2014; 111: 8913-8918
- Exome-wide association study identifies a TM6SF2 variant that confers susceptibility to nonalcoholic fatty liver disease.Nat Genet. 2014; 46: 352-356
- TM6SF2 rs58542926 influences hepatic fibrosis progression in patients with non-alcoholic fatty liver disease.Nat Commun. 2014; 5: 4309
- Prevalence of the TM6SF2 variant and non-alcoholic fatty liver disease in Chinese.J Hepatol. 2014; 61: 708-709
- Relationships between genetic variations of PNPLA3, TM6SF2 and histological features of nonalcoholic fatty liver disease in Japan.Gut Liver. 2016; 10: 437-445
- Transmembrane 6 superfamily member 2 gene variant disentangles nonalcoholic steatohepatitis from cardiovascular disease.Hepatology. 2015; 61: 506-514
- PNPLA3 and TM6SF2 variants as risk factors of hepatocellular carcinoma across various etiologies and severity of underlying liver diseases.Int J Cancer. 2019; 144: 533-544
- TM6SF2 Glu167Lys polymorphism is associated with low levels of LDL-cholesterol and increased liver injury in obese children.Pediatr Obes. 2016; 11: 115-119
- Transmembrane-6 superfamily member 2 (TM6SF2) E167K variant increases susceptibility to hepatic steatosis in obese children.Dig Liver Dis. 2016; 48: 100-101
- The additive effects of the TM6SF2 E167K and PNPLA3 I148M polymorphisms on lipid metabolism.Oncotarget. 2017; 8: 74209-74216
- Additive effects of the risk alleles of PNPLA3 and TM6SF2 on non-alcoholic fatty liver disease (NAFLD) in a Chinese population.Front Genet. 2016; 7: 140
- Combined effects of PNPLA3, TM6SF2 and HSD17B13 variants on severity of biopsy-proven non-alcoholic fatty liver disease.Hepatol Int. 2021; 15: 922-933
- Additive effects of PNPLA3 and TM6SF2 on the histological severity of non-alcoholic fatty liver disease.J Gastroenterol Hepatol. 2018; 33: 1277-1285
- Combined effects of the PNPLA3 rs738409, TM6SF2 rs58542926, and MBOAT7 rs641738 variants on NAFLD severity: a multicenter biopsy-based study.J Lipid Res. 2017; 58: 247-255
- MBOAT7 is anchored to endomembranes by six transmembrane domains.J Struct Biol. 2019; 206: 349-360
- Depletion of mboa-7, an enzyme that incorporates polyunsaturated fatty acids into phosphatidylinositol (PI), impairs PI 3-phosphate signaling in Caenorhabditis elegans.Genes Cells. 2012; 17: 748-757
- Arachidonic acid as an early indicator of inflammation during non-alcoholic fatty liver disease development.Biomolecules. 2020; 10: 1133
- The MBOAT7-TMC4 variant rs641738 increases risk of nonalcoholic fatty liver disease in individuals of european descent.Gastroenterology. 2016; 150: 1219-1230.e6
- A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci for alcohol-related cirrhosis.Nat Genet. 2015; 47: 1443-1448
- Loss of hepatic Mboat7 leads to liver fibrosis.Gut. 2020; 70: 940-950
- The MBOAT7 variant rs641738 alters hepatic phosphatidylinositols and increases severity of non-alcoholic fatty liver disease in humans.J Hepatol. 2016; 65: 1263-1265
- Hepatic deletion of Mboat7 (LPIAT1) causes activation of SREBP-1c and fatty liver.J Lipid Res. 2021; 62: 100031
- PNPLA3 p.I148M variant is associated with greater reduction of liver fat content after bariatric surgery.Surg Obes Relat Dis. 2016; 12: 1838-1846
- Risk estimation model for nonalcoholic fatty liver disease in the Japanese using multiple genetic markers.PLoS One. 2018; 13 (Sookoian SC, ed): e0185490
- Genetic determinants of hepatic steatosis and serum cytokeratin-18 fragment levels in Taiwanese children.Liver Int. 2018; 38: 1300-1307
- rs641738C>T near MBOAT7 is associated with liver fat, ALT and fibrosis in NAFLD: a meta-analysis.J Hepatol. 2021; 74: 20-30
- The 1000 Genomes Project Consortium. A global reference for human genetic variation.Nature. 2015; 526: 68-74
- TM6SF2/PNPLA3/MBOAT7 loss-of-function genetic variants impact on NAFLD development and progression both in patients and in in vitro models.Cell Mol Gastroenterol Hepatol. 2022; 13: 759-788
- Human glucokinase regulatory protein (GCKR): cDNA and genomic cloning, complete primary structure, and chromosomal localization.Mamm Genome. 1995; 6: 532-536
- Genetic and epigenetic factors determining NAFLD risk.Mol Metab. 2021; 50: 101111
- Mutations in the glucokinase regulatory protein gene in 2p23 in obese French caucasians.Diabetologia. 2003; 46: 704-711
- Hepatic de novo lipogenesis in obese youth is modulated by a common variant in the GCKR gene.J Clin Endocrinol Metab. 2015; 100 ([published correction appears in J Clin Endocrinol Metab 2020;105(2):]): E1125-E1132
- Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits.PLoS Genet. 2011; 7: e1001324
- Genetic variation in the GCKR gene is associated with non-alcoholic fatty liver disease in Chinese people.Mol Biol Rep. 2011; 38: 1145-1150
- Common variant in the glucokinase regulatory gene rs780094 and risk of nonalcoholic fatty liver disease: a meta-analysis.J Gastroenterol Hepatol. 2015; 30: 21-27
- Glucokinase regulatory protein gene polymorphism affects liver fibrosis in non-alcoholic fatty liver disease.PLoS One. 2014; 9: e87523
- Association of glucokinase regulatory gene polymorphisms with risk and severity of non-alcoholic fatty liver disease: an interaction study with adiponutrin gene.J Gastroenterol. 2014; 49: 1056-1064
- Variant in the glucokinase regulatory protein (GCKR) gene is associated with fatty liver in obese children and adolescents.Hepatology. 2012; 55: 781-789
- Contribution of Rs780094 and Rs1260326 polymorphisms in GCKR gene to non-alcoholic fatty liver disease: a meta-analysis involving 26,552 participants.Endocr Metab Immune Disord Drug Targets. 2021; 21: 1696-1708
- Genetic determinants of steatosis and fibrosis progression in paediatric non-alcoholic fatty liver disease.Liver Int. 2018; 39: 540-556
- The common P446L polymorphism in GCKR inversely modulates fasting glucose and triglyceride levels and reduces type 2 diabetes risk in the DESIR prospective general French population.Diabetes. 2008; 57: 2253-2257
- A rare nonsense mutation in the glucokinase regulator gene is associated with a rapidly progressive clinical form of nonalcoholic steatohepatitis.Hepatol Commun. 2018; 2: 1030-1036
- Role of TM6SF2 rs58542926 in the pathogenesis of nonalcoholic pediatric fatty liver disease: a multiethnic study.Hepatology. 2016; 63: 117-125
- Effect of a common missense variant in LIPA gene on fatty liver disease and lipid phenotype: new perspectives from a single-center observational study.Pharmacol Res Perspect. 2021; 9: e00820
- Coronary artery disease-associated LIPA coding variant rs1051338 reduces lysosomal acid lipase levels and activity in lysosomes.Arterioscler Thromb Vasc Biol. 2017; 37: 1050-1057
- Does lysosomial acid lipase reduction play a role in adult non-alcoholic fatty liver disease?.Int J Mol Sci. 2015; 16: 28014-28021
- Wolman's disease and cholesteryl ester storage disorder: the phenotypic spectrum of lysosomal acid lipase deficiency.Lancet Gastroenterol Hepatol. 2017; 2: 670-679
- Autophagy regulates cholesterol efflux from macrophage foam cells via lysosomal acid lipase.Cell Metab. 2011; 13: 655-667
- Autophagy-lysosomal pathway is involved in lipid degradation in rat liver.Physiol Res. 2012; 61: 287-297
- Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study.Orphanet J Rare Dis. 2017; 12: 25
- Lysosomal acid lipase deficiencies: the Wolman disease/cholesteryl ester storage disease spectrum.in: Valle D. Beaudet A.L. Vogelstein B. The online metabolic and molecular bases of inherited disease. 8th edition. McGraw-Hill, New York2012https://doi.org/10.1036/ommbid.172
- Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease.J Hepatol. 2013; 58: 1230-1243
- A phase 3 trial of sebelipase alfa in lysosomal acid lipase deficiency.N Engl J Med. 2015; 373: 1010-1020
- Hepcidin signaling in health and disease: ironing out the details.Hepatol Commun. 2021; 5: 723-735
- ACG clinical guideline: hereditary hemochromatosis.Am J Gastroenterol. 2019; 114 ([published correction appears in Am J Gastroenterol 2019;114(12):1927]): 1202-1218
- Nonalcoholic steatohepatitis clinical research network. lower serum hepcidin and greater parenchymal iron in nonalcoholic fatty liver disease patients with C282Y HFE mutations.Hepatology. 2012; 56: 1730-1740
- Iron overload is associated with hepatic oxidative damage to DNA in nonalcoholic steatohepatitis.Cancer Epidemiol Biomarkers Prev. 2009; 18: 424-432
- Elevation of serum thioredoxin levels in patients with nonalcoholic steatohepatitis.Hepatol Res. 2005; 33: 135-137
- Iron overload causes oxidative stress and impaired insulin signaling in AML-12 hepatocytes.Dig Dis Sci. 2013; 58: 1899-1908
- Lipid peroxidation and oxidant stress regulate hepatic apolipoprotein B degradation and VLDL production.J Clin Invest. 2004; 113: 1277-1287
- Excess iron modulates endoplasmic reticulum stress-associated pathways in a mouse model of alcohol and high-fat diet-induced liver injury.Lab Invest. 2013; 93: 1295-1312
- Iron, hepatic stellate cells and fibrosis in chronic hepatitis C.Eur J Clin Invest. 2002; 32: 28-35
- Hepatic reticuloendothelial system cell iron deposition is associated with increased apoptosis in nonalcoholic fatty liver disease.Hepatology. 2013; 57: 1806-1813
- Iron causes interactions of TAK1, p21ras, and phosphatidylinositol 3-kinase in caveolae to activate IkappaB kinase in hepatic macrophages.J Biol Chem. 2007; 282: 5582-5588
- Iron overload results in hepatic oxidative stress, immune cell activation, and hepatocellular ballooning injury, leading to nonalcoholic steatohepatitis in genetically obese mice.Am J Physiol Gastrointest Liver Physiol. 2016; 310: G117-G127
- Hepatic iron loading in mice increases cholesterol biosynthesis.Hepatology. 2010; 52: 462-471
- HFE C282Y mutations are associated with advanced hepatic fibrosis in Caucasians with nonalcoholic steatohepatitis.Hepatology. 2007; 46: 723-729
- Nonalcoholic fatty liver disease andHFEgene mutations: a polish study.World J Gastroenterol. 2010; 16: 2531
- Relationship between the pattern of hepatic iron deposition and histological severity in nonalcoholic fatty liver disease.Hepatology. 2011; 53: 448-457
- Hemochromatosis gene and nonalcoholic fatty liver disease: a systematic review and meta-analysis.J Hepatol. 2011; 55: 1079-1085
- Association between the HFE C282Y, H63D polymorphisms and the risks of non-alcoholic fatty liver disease, liver cirrhosis and hepatocellular carcinoma: an updated systematic review and meta-analysis of 5,758 cases and 14,741 controls.PLoS One. 2016; 11: e0163423
- A randomized trial of iron depletion in patients with nonalcoholic fatty liver disease and hyperferritinemia.World J Gastroenterol. 2014; 20: 3002-3010
- Effects of phlebotomy on liver enzymes and histology of patients with nonalcoholic fatty liver disease.Adv Biomed Res. 2017; 6: 12
- HSD17B13: a potential therapeutic target for NAFLD.Front Mol Biosci. 2022; 8: 824776
- 17-beta hydroxysteroid dehydrogenase 13 is a hepatic retinol dehydrogenase associated with histological features of nonalcoholic fatty liver disease.Hepatology. 2019; 69: 1504-1519
- Altered vitamin a metabolism in human liver slices corresponds to fibrogenesis.Clin Transl Sci. 2021; 14: 976-989
- Splice variant rs72613567 prevents worst histologic outcomes in patients with nonalcoholic fatty liver disease.J Lipid Res. 2019; 60: 176-185
- HSD17B13 rs72613567 protects against liver diseases and histological progression of nonalcoholic fatty liver disease: a systematic review and meta-analysis.Eur Rev Med Pharmacol Sci. 2020; 24: 8997-9007
Availabe at: https://clinicaltrials.gov/ct2/show/NCT04565717 ClinicalTrials.gov: NCT04565717. Accessed February 28, 2023.
Availabe at: https://clinicaltrials.gov/ct2/show/NCT04202354 ClinicalTrials.gov: NCT04202354. Accessed February 28, 2023.
- Identification of the missing component in the mitochondrial benzamidoxime prodrug-converting system as a novel molybdenum enzyme.J Biol Chem. 2006; 281: 34796-34802
- A missense variant in mitochondrial amidoxime reducing component 1 gene and protection against liver disease.PLoS Genet. 2020; 16 ([published correction appears in PLoS Genet 2021;17(4):e1009503]): e1008629
- MARC1 variant rs2642438 increases hepatic phosphatidylcholines and decreases severity of non-alcoholic fatty liver disease in humans.J Hepatol. 2020; 73: 725-726
- Letter to the editor: the clinically relevant MTARC1 p.Ala165Thr variant impacts neither the fold nor active site architecture of the human mARC1 protein.Hepatol Commun. 2022; 6 ([published online ahead of print, 2022 May 13]): 3277-3278
- The roles of ApoC-III on the metabolism of triglyceride-rich lipoproteins in humans.Front Endocrinol. 2020; 11: 474
- Neurocan: a brain chondroitin sulfate proteoglycan.Cell Mol Life Sci. 2001; 58: 1842-1856
- Genetic variation at NCAN locus is associated with inflammation and fibrosis in non-alcoholic fatty liver disease in morbid obesity.Hum Hered. 2013; 75: 34-43
- The APOC3 T-455C and C-482T promoter region polymorphisms are not associated with the severity of liver damage independently of PNPLA3 I148M genotype in patients with nonalcoholic fatty liver.J Hepatol. 2011; 55: 1409-1414
- Apolipoprotein C3 (-455T>C) polymorphism confers susceptibility to nonalcoholic fatty liver disease in the Southern Han Chinese population.World J Gastroenterol. 2014; 20: 14010-14017
- Association of apolipoprotein E polymorphisms in patients with non-alcoholic steatohepatitis.Dig Dis Sci. 2008; 53: 3218-3224
- A gene variant of PNPLA3, but not of APOC3, is associated with histological parameters of NAFLD in an obese population.Obesity. 2013; 21: 2138-2145
- Oxidative stress is a key modulator in the development of nonalcoholic fatty liver disease.Antioxidants (Basel). 2021; 11: 91
- The gene cards suite: from gene data mining to disease genome sequence analyses.Curr Protoc Bioinformatics. 2016; 54: 1
- Polymorphisms of microsomal triglyceride transfer protein gene and manganese superoxide dismutase gene in non-alcoholic steatohepatitis.J Hepatol. 2004; 40: 781-786
- The SOD2 C47T polymorphism influences NAFLD fibrosis severity: evidence from case-control and intra-familial allele association studies.J Hepatol. 2012; 56: 448-454
- Association of polymorphisms of glutamate-cystein ligase and microsomal triglyceride transfer protein genes in non-alcoholic fatty liver disease.J Gastroenterol Hepatol. 2010; 25: 357-361
- Cideb, an ER- and lipid droplet-associated protein, mediates VLDL lipidation and maturation by interacting with apolipoprotein B.Cell Metab. 2009; 9: 177-190
- Germline mutations in CIDEB and protection against liver disease.N Engl J Med. 2022; 387: 332-344
- The serine protease matriptase-2 (TMPRSS6) inhibits hepcidin activation by cleaving membrane hemojuvelin.Cell Metab. 2008; 8: 502-511
- The A736V TMPRSS6 polymorphism influences hepatic iron overload in nonalcoholic fatty liver disease.PLoS One. 2012; 7 (Targher G, ed): e48804
- Common genetic variations in CLOCK transcription factor are associated with nonalcoholic fatty liver disease.World J Gastroenterol. 2007; 13: 4242-4248
- Combined effect of PNPLA3, TM6SF2, and HSD17B13 variants on risk of cirrhosis and hepatocellular carcinoma in the general population.Hepatology. 2020; 72: 845-856
- Individualized polygenic risk score identifies NASH in the Eastern Asia region: a derivation and validation study.Clin Transl Gastroenterol. 2021; 12: e00321
- Non-invasive stratification of hepatocellular carcinoma risk in non-alcoholic fatty liver using polygenic risk scores.J Hepatol. 2021; 74: 775-782
- NAFLD polygenic risk score and risk of hepatocellular carcinoma in an East Asian population [published online ahead of print, 2022 May 3].Hepatol Commun. 2022; 6: 2310-2321
- A polygenic risk score to refine risk stratification and prediction for severe liver disease by clinical fibrosis scores.Clin Gastroenterol Hepatol. 2022; 20: 658-673
- Polygenic risk score: a promising predictor for hepatocellular carcinoma in the population with non-alcoholic fatty liver disease.J Hepatol. 2021; 74: 1493-1494
- Association of genetic risk score with NAFLD in an ethnically diverse cohort.Hepatol Commun. 2021; 5: 1689-1703