{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T16:41:22Z","timestamp":1791477682455,"version":"4.3.4"},"reference-count":43,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T00:00:00Z","timestamp":1690848000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T00:00:00Z","timestamp":1690848000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,4,18]],"date-time":"2023-04-18T00:00:00Z","timestamp":1681776000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100020624","name":"NIHR Nottingham Biomedical Research Centre","doi-asserted-by":"publisher","award":["BRC-1215-20003"],"award-info":[{"award-number":["BRC-1215-20003"]}],"id":[{"id":"10.13039\/501100020624","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000833","name":"Rosetrees Trust","doi-asserted-by":"publisher","award":["M546"],"award-info":[{"award-number":["M546"]}],"id":[{"id":"10.13039\/501100000833","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"UKRI Medical Research Council","doi-asserted-by":"publisher","award":["G0902313"],"award-info":[{"award-number":["G0902313"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"UKRI Medical Research Council","doi-asserted-by":"publisher","award":["MR\/S009930\/1"],"award-info":[{"award-number":["MR\/S009930\/1"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"UKRI Medical Research Council","doi-asserted-by":"publisher","award":["MR\/N005953\/1"],"award-info":[{"award-number":["MR\/N005953\/1"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"UKRI Medical Research Council","doi-asserted-by":"publisher","award":["MR\/P00167X\/1"],"award-info":[{"award-number":["MR\/P00167X\/1"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"UKRI Medical Research Council","doi-asserted-by":"publisher","award":["G090074791070"],"award-info":[{"award-number":["G090074791070"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002066","name":"GlaxoSmithKline foundation","doi-asserted-by":"publisher","award":["C17-1"],"award-info":[{"award-number":["C17-1"]}],"id":[{"id":"10.13039\/501100002066","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004330","name":"GlaxoSmithKline","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004330","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100020013","name":"NIHR Leicester Biomedical Research Centre","doi-asserted-by":"publisher","award":["MR\/P00167X\/1"],"award-info":[{"award-number":["MR\/P00167X\/1"]}],"id":[{"id":"10.13039\/501100020013","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000272","name":"National Institute for Health and Care Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000351","name":"British Lung Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000351","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000738","name":"University of Leicester","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000738","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004440","name":"Wellcome","doi-asserted-by":"publisher","award":["202849"],"award-info":[{"award-number":["202849"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["G090074791070"],"award-info":[{"award-number":["G090074791070"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["WT202849\/Z\/16\/Z"],"award-info":[{"award-number":["WT202849\/Z\/16\/Z"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["090532\/Z\/09\/Z"],"award-info":[{"award-number":["090532\/Z\/09\/Z"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100011690","name":"UK Space Agency","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100011690","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jhep-reports.eu","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["JHEP Reports"],"published-print":{"date-parts":[[2023,8]]},"DOI":"10.1016\/j.jhepr.2023.100764","type":"journal-article","created":{"date-parts":[[2023,4,23]],"date-time":"2023-04-23T20:02:58Z","timestamp":1682280178000},"page":"100764","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":19,"title":["Identification and characterisation of a rare MTTP variant underlying hereditary non-alcoholic fatty liver disease"],"prefix":"10.1016","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9950-7201","authenticated-orcid":false,"given":"Jane I.","family":"Grove","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4715-8660","authenticated-orcid":false,"given":"Peggy C.K.","family":"Lo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3641-4371","authenticated-orcid":false,"given":"Nick","family":"Shrine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julian","family":"Barwell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4951-1867","authenticated-orcid":false,"given":"Louise V.","family":"Wain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3596-7874","authenticated-orcid":false,"given":"Martin D.","family":"Tobin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew M.","family":"Salter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9278-1438","authenticated-orcid":false,"given":"Aditi N.","family":"Borkar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8326-5279","authenticated-orcid":false,"given":"Sara","family":"Cuevas-Oca\u00f1a","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neil","family":"Bennett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6057-2073","authenticated-orcid":false,"given":"Catherine","family":"John","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ioanna","family":"Ntalla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1958-7369","authenticated-orcid":false,"given":"Gabriela E.","family":"Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher P.","family":"Neal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mervyn G.","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Kuht","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pankaj","family":"Gupta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vishwaraj M.","family":"Vemala","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allister","family":"Grant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adeolu B.","family":"Adewoye","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2826-6869","authenticated-orcid":false,"given":"Kotacherry T.","family":"Shenoy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leena K.","family":"Balakumaran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0115-2298","authenticated-orcid":false,"given":"Edward J.","family":"Hollox","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas R.F.","family":"Hannan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3924-4830","authenticated-orcid":false,"given":"Guruprasad P.","family":"Aithal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jhepr.2023.100764_bib1","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1002\/hep.28431","article-title":"Global epidemiology of nonalcoholic fatty liver disease-Meta-analytic assessment of prevalence, incidence, and outcomes","volume":"64","author":"Younossi","year":"2016","journal-title":"Hepatology"},{"key":"10.1016\/j.jhepr.2023.100764_bib2","doi-asserted-by":"crossref","first-page":"1865","DOI":"10.1053\/j.gastro.2020.01.053","article-title":"Toward genetic prediction of nonalcoholic fatty liver disease trajectories: PNPLA3 and beyond","volume":"158","author":"Krawczyk","year":"2020","journal-title":"Gastroenterology"},{"key":"10.1016\/j.jhepr.2023.100764_bib3","doi-asserted-by":"crossref","first-page":"1196","DOI":"10.1016\/j.jhep.2020.02.020","article-title":"Update on NAFLD genetics: from new variants to the clinic","volume":"72","author":"Tr\u00e9po","year":"2020","journal-title":"J\u00a0Hepatol"},{"key":"10.1016\/j.jhepr.2023.100764_bib4","doi-asserted-by":"crossref","first-page":"171","DOI":"10.4103\/sjg.SJG_201_20","article-title":"The association between SNPs rs1800591 and rs3816873 of the MTTP gene and nonalcoholic fatty liver disease: a meta-analysis","volume":"26","author":"Tan","year":"2020","journal-title":"Saudi J Gastroenterol"},{"key":"10.1016\/j.jhepr.2023.100764_bib5","article-title":"Machine learning enables new insights into genetic contributions to liver fat accumulation","volume":"1","author":"Haas","year":"2021","journal-title":"Cell Genom"},{"key":"10.1016\/j.jhepr.2023.100764_bib6","doi-asserted-by":"crossref","first-page":"2109","DOI":"10.1093\/hmg\/2.12.2109","article-title":"Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein","volume":"2","author":"Shoulders","year":"1993","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jhepr.2023.100764_bib7","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1016\/j.jhep.2014.05.023","article-title":"Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia","volume":"61","author":"Di Filippo","year":"2014","journal-title":"J\u00a0Hepatol"},{"key":"10.1016\/j.jhepr.2023.100764_bib8","doi-asserted-by":"crossref","DOI":"10.1073\/pnas.1903029116","article-title":"The crystal structure of human microsomal triglyceride transfer protein","volume":"116","author":"Biterova","year":"2019","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jhepr.2023.100764_bib9","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/0263-7855(96)00018-5","article-title":"VMD: visual molecular dynamics","volume":"14","author":"Humphrey","year":"1996","journal-title":"J\u00a0Mol Graph"},{"key":"10.1016\/j.jhepr.2023.100764_bib10","doi-asserted-by":"crossref","first-page":"4405","DOI":"10.1242\/dev.138081","article-title":"Optimized inducible shRNA and CRISPR\/Cas9 platforms for in\u00a0vitro studies of human development using hPSCs","volume":"143","author":"Bertero","year":"2016","journal-title":"Development"},{"key":"10.1016\/j.jhepr.2023.100764_bib11","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0006082","article-title":"Early cell fate decisions of human embryonic stem cells and mouse epiblast stem cells are controlled by the same signalling pathways","volume":"4","author":"Vallier","year":"2009","journal-title":"PLoS One"},{"key":"10.1016\/j.jhepr.2023.100764_bib12","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1038\/nprot.2012.153","article-title":"Production of hepatocyte-like cells from human pluripotent stem cells","volume":"8","author":"Hannan","year":"2013","journal-title":"Nat Protoc"},{"key":"10.1016\/j.jhepr.2023.100764_bib13","doi-asserted-by":"crossref","first-page":"2281","DOI":"10.1038\/nprot.2013.143","article-title":"Genome engineering using the CRISPR-Cas9 system","volume":"8","author":"Ran","year":"2013","journal-title":"Nat Protoc"},{"key":"10.1016\/j.jhepr.2023.100764_bib14","doi-asserted-by":"crossref","first-page":"678","DOI":"10.1093\/ije\/dyz073","article-title":"Cohort profile: extended cohort for e-health, environment and DNA (EXCEED)","volume":"48","author":"John","year":"2019","journal-title":"Int J Epidemiol"},{"key":"10.1016\/j.jhepr.2023.100764_bib15","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1007\/s00431-005-1751-7","article-title":"An atypical case of abetalipoproteinaemia with severe fatty liver in the absence of steatorrhoea or acanthocytosis","volume":"165","author":"Sakamoto","year":"2006","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.jhepr.2023.100764_bib16","unstructured":"Nucleotide. Bethesda (MD): National Library of Medicine (US) NCfBIANN, Homo sapiens chromosome vol. 4. https:\/\/www.ncbi.nlm.nih.gov\/nuccore\/NC_000004.12. Accessed 26 June\u00a02020."},{"key":"10.1016\/j.jhepr.2023.100764_bib17","unstructured":"GEM Japan whole genome aggregation (GEM-J WGA) panel. https:\/\/grch38.togovar.org\/doc\/datasets\/gem_j_wga. Accessed 17 March 2023."},{"key":"10.1016\/j.jhepr.2023.100764_bib18","doi-asserted-by":"crossref","DOI":"10.1136\/bmjopen-2018-027244","article-title":"Cohort profile: the Trivandrum non-alcoholic fatty liver disease (NAFLD) cohort","volume":"9","author":"Chalmers","year":"2019","journal-title":"BMJ Open"},{"key":"10.1016\/j.jhepr.2023.100764_bib19","unstructured":"rs745447480 SNP. http:\/\/www.ensembl.org\/Homo_sapiens\/Variation\/Explore?r=4:99608399-99609399;v=rs745447480;vdb=variation;vf=126097885. Accessed 26 June 2020."},{"key":"10.1016\/j.jhepr.2023.100764_bib20","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-019-47737-w","article-title":"The TM6SF2 E167K genetic variant induces lipid biosynthesis and reduces apolipoprotein B secretion in human hepatic 3D spheroids","volume":"9","author":"Prill","year":"2019","journal-title":"Sci Rep"},{"key":"10.1016\/j.jhepr.2023.100764_bib21","doi-asserted-by":"crossref","first-page":"1471","DOI":"10.1194\/jlr.P076034","article-title":"Novel association of TM6SF2 rs58542926 genotype with increased serum tyrosine levels and decreased apoB-100 particles in Finns","volume":"58","author":"Kim","year":"2017","journal-title":"J\u00a0Lipid Res"},{"key":"10.1016\/j.jhepr.2023.100764_bib22","doi-asserted-by":"crossref","first-page":"1276","DOI":"10.1016\/j.jhep.2012.07.030","article-title":"Patatin-like phospholipase domain-containing 3 (PNPLA3) I148M (rs738409) affects hepatic VLDL secretion in humans and in\u00a0vitro","volume":"57","author":"Pirazzi","year":"2012","journal-title":"J\u00a0Hepatol"},{"key":"10.1016\/j.jhepr.2023.100764_bib23","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1186\/1750-1172-3-19","article-title":"Abetalipoproteinemia: two case reports and literature review","volume":"3","author":"Zamel","year":"2008","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.jhepr.2023.100764_bib24","doi-asserted-by":"crossref","first-page":"999","DOI":"10.1126\/science.1439810","article-title":"Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia","volume":"258","author":"Wetterau","year":"1992","journal-title":"Science"},{"key":"10.1016\/j.jhepr.2023.100764_bib25","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1007\/s12664-016-0654-z","article-title":"Microsomal triglyceride transfer protein gene mutations in Turkish children: a novel mutation and clinical follow up","volume":"35","author":"G\u00fcnd\u00fcz","year":"2016","journal-title":"Indian J Gastroenterol"},{"key":"10.1016\/j.jhepr.2023.100764_bib26","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1002\/hep4.1805","article-title":"Genome-wide association study of NAFLD using electronic health records","volume":"6","author":"Fairfield","year":"2022","journal-title":"Hepatol Commun"},{"key":"10.1016\/j.jhepr.2023.100764_bib27","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1038\/s41588-022-01078-z","article-title":"A\u00a0multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation","volume":"54","author":"Vujkovic","year":"2022","journal-title":"Nat Genet"},{"key":"10.1016\/j.jhepr.2023.100764_bib28","doi-asserted-by":"crossref","first-page":"1541","DOI":"10.1194\/jlr.M031658","article-title":"Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia","volume":"54","author":"Khatun","year":"2013","journal-title":"J\u00a0Lipid Res"},{"key":"10.1016\/j.jhepr.2023.100764_bib29","doi-asserted-by":"crossref","first-page":"10150","DOI":"10.4238\/2014.December.4.9","article-title":"Correlation between MTP -493G>T polymorphism and non-alcoholic fatty liver disease risk: a meta-analysis","volume":"13","author":"Li","year":"2014","journal-title":"Genet Mol Res"},{"key":"10.1016\/j.jhepr.2023.100764_bib30","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1016\/j.jnutbio.2009.06.007","article-title":"Lipoprotein metabolism mediates the association of MTP polymorphism with beta-cell dysfunction in healthy subjects and in nondiabetic normolipidemic patients with nonalcoholic steatohepatitis","volume":"21","author":"Musso","year":"2010","journal-title":"J\u00a0Nutr Biochem"},{"key":"10.1016\/j.jhepr.2023.100764_bib31","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/j.jacl.2018.10.003","article-title":"Postprandial lipid absorption in seven heterozygous carriers of deleterious variants of MTTP in two abetalipoproteinemic families","volume":"13","author":"Di Filippo","year":"2019","journal-title":"J\u00a0Clin Lipidol"},{"key":"10.1016\/j.jhepr.2023.100764_bib32","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1194\/jlr.M020024","article-title":"Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia","volume":"53","author":"Di Filippo","year":"2012","journal-title":"J\u00a0Lipid Res"},{"key":"10.1016\/j.jhepr.2023.100764_bib33","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1097\/MOL.0000000000000663","article-title":"Hypobetalipoproteinemia and abetalipoproteinemia: liver disease and cardiovascular disease","volume":"31","author":"Welty","year":"2020","journal-title":"Curr Opin Lipidol"},{"key":"10.1016\/j.jhepr.2023.100764_bib34","doi-asserted-by":"crossref","first-page":"3682","DOI":"10.1038\/s41598-019-39998-2","article-title":"Rare pathogenic variants predispose to hepatocellular carcinoma in nonalcoholic fatty liver disease","volume":"9","author":"Pelusi","year":"2019","journal-title":"Sci Rep"},{"key":"10.1016\/j.jhepr.2023.100764_bib35","doi-asserted-by":"crossref","first-page":"1781","DOI":"10.1007\/s00125-008-1116-7","article-title":"Pathogenesis of type 2 diabetes: tracing the reverse route from cure to cause","volume":"51","author":"Taylor","year":"2008","journal-title":"Diabetologia"},{"key":"10.1016\/j.jhepr.2023.100764_bib36","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1016\/j.jhep.2017.02.014","article-title":"Impaired hepatic lipid synthesis from polyunsaturated fatty acids in TM6SF2 E167K variant carriers with NAFLD","volume":"67","author":"Luukkonen","year":"2017","journal-title":"J\u00a0Hepatol"},{"key":"10.1016\/j.jhepr.2023.100764_bib37","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1016\/j.coph.2021.08.014","article-title":"Genetic risk scores and personalization of care in fatty liver disease","volume":"61","author":"Bianco","year":"2021","journal-title":"Curr Opin Pharmacol"},{"key":"10.1016\/j.jhepr.2023.100764_bib38","doi-asserted-by":"crossref","first-page":"1306","DOI":"10.1016\/j.cca.2011.04.018","article-title":"Postprandial lipoprotein metabolism: VLDL vs chylomicrons","volume":"412","author":"Nakajima","year":"2011","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.jhepr.2023.100764_bib39","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1053\/j.gastro.2018.04.014","article-title":"Magnetic resonance imaging proton density fat fraction associates with progression of fibrosis in patients with nonalcoholic fatty liver disease","volume":"155","author":"Ajmera","year":"2018","journal-title":"Gastroenterology"},{"key":"10.1016\/j.jhepr.2023.100764_bib40","doi-asserted-by":"crossref","first-page":"1913","DOI":"10.1053\/j.gastro.2019.11.311","article-title":"Mechanisms of fibrosis development in nonalcoholic steatohepatitis","volume":"158","author":"Schwabe","year":"2020","journal-title":"Gastroenterology"},{"key":"10.1016\/j.jhepr.2023.100764_bib41","doi-asserted-by":"crossref","first-page":"908","DOI":"10.1038\/s41591-018-0104-9","article-title":"Mechanisms of NAFLD development and therapeutic strategies","volume":"24","author":"Friedman","year":"2018","journal-title":"Nat Med"},{"key":"10.1016\/j.jhepr.2023.100764_bib42","doi-asserted-by":"crossref","first-page":"1456","DOI":"10.1016\/j.celrep.2017.04.064","article-title":"Lack of MTTP activity in pluripotent stem cell-derived hepatocytes and cardiomyocytes abolishes apoB secretion and increases cell stress","volume":"19","author":"Liu","year":"2017","journal-title":"Cell Rep"},{"key":"10.1016\/j.jhepr.2023.100764_bib43","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1038\/nature08365","article-title":"Reconstructing Indian population history","volume":"461","author":"Reich","year":"2009","journal-title":"Nature"}],"container-title":["JHEP Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2589555923000952?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2589555923000952?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T04:06:55Z","timestamp":1778904415000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2589555923000952"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8]]},"references-count":43,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2023,8]]}},"alternative-id":["S2589555923000952"],"URL":"https:\/\/doi.org\/10.1016\/j.jhepr.2023.100764","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2021.07.22.21260356","asserted-by":"object"}]},"ISSN":["2589-5559"],"issn-type":[{"value":"2589-5559","type":"print"}],"subject":[],"published":{"date-parts":[[2023,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Identification and characterisation of a rare MTTP variant underlying hereditary non-alcoholic fatty liver disease","name":"articletitle","label":"Article Title"},{"value":"JHEP Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jhepr.2023.100764","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 The Authors. Published by Elsevier B.V. on behalf of European Association for the Study of the Liver (EASL).","name":"copyright","label":"Copyright"}],"article-number":"100764"}}