{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T11:24:59Z","timestamp":1790249099266,"version":"4.1.0"},"reference-count":11,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,9,12]],"date-time":"2017-09-12T00:00:00Z","timestamp":1505174400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"AMFE (\u201cAssociation Maladies Foie Enfants\u201d, Malakoff, France)"},{"name":"MLD (Monaco Liver Disorder, Monaco)"},{"name":"Foundation Rumsey-Cartier (Geneva, Switzerland)"},{"name":"Imagine institute for Genetic Diseases (Paris, France)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Liver International"],"published-print":{"date-parts":[[2018,2]]},"abstract":"Abstract<\/jats:title>\n \n Background & Aims<\/jats:title>\n \n Obliterative portal venopathy (\n OPV<\/jats:styled-content>\n ) is characterized by lesions of portal vein intrahepatic branches and is thought to be responsible for many cases of portal hypertension in the absence of cirrhosis or obstruction of large portal or hepatic veins. In most cases the cause of\n OPV<\/jats:styled-content>\n remains unknown. The aim was to identify a candidate gene of\n OPV<\/jats:styled-content>\n .\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n Whole exome sequencing was performed in two families, including 6 patients with\n OPV<\/jats:styled-content>\n . Identified mutations were confirmed by Sanger sequencing and expression of candidate gene transcript was studied by real time\n qPCR<\/jats:styled-content>\n in human tissues.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n In both families, no mutations were identified in genes previously reported to be associated with\n OPV<\/jats:styled-content>\n . In each family, we identified a heterozygous mutation (c.1783G>A, p.Gly595Arg and c.4895C>T, p.Thr1632Ile) in a novel gene located on chromosome 4, that we called\n \n FOPV<\/jats:styled-content>\n <\/jats:italic>\n (Familial Obliterative Portal Venopathy), and having a\n cDNA<\/jats:styled-content>\n coding for 1793 amino acids. The\n \n FOPV<\/jats:styled-content>\n <\/jats:italic>\n mutations segregated with the disease in families and the pattern of inheritance was suggestive of autosomal dominant inherited\n OPV<\/jats:styled-content>\n , with incomplete penetrance and variable expressivity. In silico analysis predicted a deleterious effect of each mutant and mutations concerned highly conserved amino acids in mammals. A deleterious heterozygous\n \n FOPV<\/jats:styled-content>\n <\/jats:italic>\n missense mutation (c.4244T>C, p.Phe1415Ser) was also identified in a patient with non\u2010familial\n OPV<\/jats:styled-content>\n . Expression study in liver veins showed that\n \n FOPV<\/jats:styled-content>\n <\/jats:italic>\n transcript was mainly expressed in intrahepatic portal vein.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n This report suggests that\n \n FOPV<\/jats:styled-content>\n <\/jats:italic>\n mutations may have a pathogenic role in some cases of familial and non\u2010familial\n OPV<\/jats:styled-content>\n .\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/liv.13547","type":"journal-article","created":{"date-parts":[[2017,8,9]],"date-time":"2017-08-09T10:22:35Z","timestamp":1502274155000},"page":"358-364","source":"Crossref","is-referenced-by-count":34,"title":["Mutations in the novel gene\n \n FOPV<\/scp>\n <\/i>\n are associated with familial autosomal dominant and non\u2010familial obliterative portal venopathy"],"prefix":"10.1111","volume":"38","author":[{"given":"Claude","family":"Besmond","sequence":"first","affiliation":[{"name":"Inserm U1163 Imagine Institute for Genetic Diseases Necker University Hospital Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Valla","sequence":"additional","affiliation":[{"name":"Hepatology Unit National Reference Centre for Rare Vascular Liver Diseases Beaujon Universitary Hospital, Unity Clichy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Hubert","sequence":"additional","affiliation":[{"name":"Inserm U1163 Imagine Institute for Genetic Diseases Necker University Hospital Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karine","family":"Poirier","sequence":"additional","affiliation":[{"name":"Inserm U1163 Imagine Institute for Genetic Diseases Necker University Hospital Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigitte","family":"Grosse","sequence":"additional","affiliation":[{"name":"Inserm UMR\u2010S1174 Hepatinov University of Paris\u2010Sud 11 Orsay France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Guettier","sequence":"additional","affiliation":[{"name":"Pathology Unit Hepatinov Bic\u00eatre Universitary Hospital Assistance Publique\u2010H\u00f4pitaux de Paris University of Paris\u2010Sud Le Kremlin Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Bernard","sequence":"additional","affiliation":[{"name":"Pediatric Hepatology and Pediatric Liver Transplantation Unit National Reference Centre for Rare Pediatric Liver Diseases Hepatinov Bic\u00eatre Universitary Hospital Assistance Publique\u2010H\u00f4pitaux de Paris University of Paris\u2010Sud Le Kremlin Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Gonzales","sequence":"additional","affiliation":[{"name":"Inserm UMR\u2010S1174 Hepatinov University of Paris\u2010Sud 11 Orsay France"},{"name":"Pediatric Hepatology and Pediatric Liver Transplantation Unit National Reference Centre for Rare Pediatric Liver Diseases Hepatinov Bic\u00eatre Universitary Hospital Assistance Publique\u2010H\u00f4pitaux de Paris University of Paris\u2010Sud Le Kremlin Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7536-6272","authenticated-orcid":false,"given":"Emmanuel","family":"Jacquemin","sequence":"additional","affiliation":[{"name":"Inserm UMR\u2010S1174 Hepatinov University of Paris\u2010Sud 11 Orsay France"},{"name":"Pediatric Hepatology and Pediatric Liver Transplantation Unit National Reference Centre for Rare Pediatric Liver Diseases Hepatinov Bic\u00eatre Universitary Hospital Assistance Publique\u2010H\u00f4pitaux de Paris University of Paris\u2010Sud Le Kremlin Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,9,12]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.24422"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2014.03.025"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2015.03.016"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30724"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2015.11.027"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.28499"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1378\/chest.15-0825"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.115.001086"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.20571"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurol.2015.01.566"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcmgh.2016.05.013"}],"container-title":["Liver International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fliv.13547","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/liv.13547","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T12:19:26Z","timestamp":1695471566000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/liv.13547"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9,12]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2018,2]]}},"alternative-id":["10.1111\/liv.13547"],"URL":"https:\/\/doi.org\/10.1111\/liv.13547","archive":["Portico"],"relation":{},"ISSN":["1478-3223","1478-3231"],"issn-type":[{"value":"1478-3223","type":"print"},{"value":"1478-3231","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,9,12]]}}}