2021
An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs
Cordell H, Fryett J, Ueno K, Darlay R, Aiba Y, Hitomi Y, Kawashima M, Nishida N, Khor S, Gervais O, Kawai Y, Nagasaki M, Tokunaga K, Tang R, Shi Y, Li Z, Juran B, Atkinson E, Gerussi A, Carbone M, Asselta R, Cheung A, de Andrade M, Baras A, Horowitz J, Ferreira M, Sun D, Jones D, Flack S, Spicer A, Mulcahy V, Byan J, Han Y, Sandford R, Lazaridis K, Amos C, Hirschfield G, Seldin M, Invernizzi P, Siminovitch K, Ma X, Nakamura M, Mells G, Consortia P, Consortium C, Siminovitch K, Mason A, Vincent C, Xie G, Zhang J, Consortium C, Tang R, Ma X, Li Z, Shi Y, Group I, Affronti A, Almasio P, Alvaro D, Andreone P, Andriulli A, Azzaroli F, Battezzati P, Benedetti A, Bragazzi M, Brunetto M, Bruno S, Calvaruso V, Cardinale V, Casella G, Cazzagon N, Ciaccio A, Coco B, Colli A, Colloredo G, Colombo M, Colombo S, Cristoferi L, Cursaro C, Crocè L, Crosignani A, D’Amato D, Donato F, Elia G, Fabris L, Fagiuoli S, Ferrari C, Floreani A, Galli A, Giannini E, Grattagliano I, Lampertico P, Lleo A, Malinverno F, Mancuso C, Marra F, Marzioni M, Massironi S, Mattalia A, Miele L, Milani C, Morini L, Morisco F, Muratori L, Muratori P, Niro G, O’Donnell S, Picciotto A, Portincasa P, Rigamonti C, Ronca V, Rosina F, Spinzi G, Strazzabosco M, Tarocchi M, Tiribelli C, Toniutto P, Valenti L, Vinci M, Zuin M, Consortium J, Nakamura H, Abiru S, Nagaoka S, Komori A, Yatsuhashi H, Ishibashi H, Ito M, Migita K, Ohira H, Katsushima S, Naganuma A, Sugi K, Komatsu T, Mannami T, Matsushita K, Yoshizawa K, Makita F, Nikami T, Nishimura H, Kouno H, Kouno H, Ota H, Komura T, Nakamura Y, Shimada M, Hirashima N, Komeda T, Ario K, Nakamuta M, Yamashita T, Furuta K, Kikuchi M, Naeshiro N, Takahashi H, Mano Y, Tsunematsu S, Yabuuchi I, Shimada Y, Yamauchi K, Sugimoto R, Sakai H, Mita E, Koda M, Tsuruta S, Kamitsukasa H, Sato T, Masaki N, Kobata T, Fukushima N, Ohara Y, Muro T, Takesaki E, Takaki H, Yamamoto T, Kato M, Nagaoki Y, Hayashi S, Ishida J, Watanabe Y, Kobayashi M, Koga M, Saoshiro T, Yagura M, Hirata K, Tanaka A, Takikawa H, Zeniya M, Abe M, Onji M, Kaneko S, Honda M, Arai K, Arinaga-Hino T, Hashimoto E, Taniai M, Umemura T, Joshita S, Nakao K, Ichikawa T, Shibata H, Yamagiwa S, Seike M, Honda K, Sakisaka S, Takeyama Y, Harada M, Senju M, Yokosuka O, Kanda T, Ueno Y, Kikuchi K, Ebinuma H, Himoto T, Yasunami M, Murata K, Mizokami M, Kawata K, Shimoda S, Miyake Y, Takaki A, Yamamoto K, Hirano K, Ichida T, Ido A, Tsubouchi H, Chayama K, Harada K, Nakanuma Y, Maehara Y, Taketomi A, Shirabe K, Soejima Y, Mori A, Yagi S, Uemoto S, Egawa H, Tanaka T, Yamashiki N, Tamura S, Sugawara Y, Kokudo N, Consortium P, Atkinson E, de Andrade M, Chalasani N, Luketic V, Odin J, Chopra K, Baras A, Horowitz J, Abecasis G, Cantor M, Coppola G, Economides A, Lotta L, Overton J, Reid J, Shuldiner A, Beechert C, Forsythe C, Fuller E, Gu Z, Lattari M, Lopez A, Schleicher T, Padilla M, Toledo K, Widom L, Wolf S, Pradhan M, Manoochehri K, Ulloa R, Bai X, Balasubramanian S, Barnard L, Blumenfeld A, Eom G, Habegger L, Hawes A, Khalid S, Maxwell E, Salerno W, Staples J, Jones M, Mitnaul L, Consortium U, Sturgess R, Healey C, Yeoman A, Gunasekera A, Kooner P, Kapur K, Sathyanarayana V, Kallis Y, Subhani J, Harvey R, McCorry R, Rooney P, Ramanaden D, Evans R, Mathialahan T, Gasem J, Shorrock C, Bhalme M, Southern P, Tibble J, Gorard D, Jones S, Mells G, Mulcahy V, Srivastava B, Foxton M, Collins C, Elphick D, Karmo M, Porras-Perez F, Mendall M, Yapp T, Patel M, Ede R, Sayer J, Jupp J, Fisher N, Carter M, Koss K, Shah J, Piotrowicz A, Scott G, Grimley C, Gooding I, Williams S, Tidbury J, Lim G, Cheent K, Levi S, Mansour D, Beckley M, Hollywood C, Wong T, Marley R, Ramage J, Gordon H, Ridpath J, Ngatchu T, Grover V, Shidrawi R, Abouda G, Corless L, Narain M, Rees I, Brown A, Taylor-Robinson S, Wilkins J, Grellier L, Banim P, Das D, Heneghan M, Curtis H, Matthews H, Mohammed F, Aldersley M, Srirajaskanthan R, Walker G, McNair A, Sharif A, Sen S, Bird G, Prince M, Prasad G, Kitchen P, Barnardo A, Oza C, Sivaramakrishnan N, Gupta P, Shah A, Evans C, Saha S, Pollock K, Bramley P, Mukhopadhya A, Barclay S, McDonald N, Bathgate A, Palmer K, Dillon J, Rushbrook S, Przemioslo R, McDonald C, Millar A, Tai C, Mitchell S, Metcalf J, Shaukat S, Ninkovic M, Shmueli U, Davis A, Naqvi A, Lee T, Ryder S, Collier J, Klass H, Cramp M, Sharer N, Aspinall R, Ghosh D, Douds A, Booth J, Williams E, Hussaini H, Christie J, Mann S, Thorburn D, Marshall A, Patanwala I, Ala A, Maltby J, Matthew R, Corbett C, Vyas S, Singhal S, Gleeson D, Misra S, Butterworth J, George K, Harding T, Douglass A, Mitchison H, Panter S, Shearman J, Bray G, Roberts M, Butcher G, Forton D, Mahmood Z, Cowan M, Das D, Ch’ng C, Rahman M, Whatley G, Wesley E, Mandal A, Jain S, Pereira S, Wright M, Trivedi P, Gordon F, Unitt E, Palejwala A, Austin A, Vemala V, Grant A, Higham A, Brind A, Mathew R, Cox M, Ramakrishnan S, King A, Whalley S, Fraser J, Thomson S, Bell A, Wong V, Kia R, Gee I, Keld R, Ransford R, Gotto J, Millson C. An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs. Journal Of Hepatology 2021, 75: 572-581. PMID: 34033851, PMCID: PMC8811537, DOI: 10.1016/j.jhep.2021.04.055.Peer-Reviewed Original ResearchConceptsChronic liver diseaseBiliary cholangitisLiver diseaseSmall intrahepatic bile ductsTreatment of PBCPrimary biliary cholangitisIntrahepatic bile ductsAdditional risk lociRisk lociPattern recognition receptorsLicensed medicationsT helperAutoimmune destructionEast Asian cohortsAutoimmune disordersBile ductAsian cohortEuropean cohortInadequate responseNovel therapiesDrug efficacy screeningHealthy individualsGenome-wide association studiesNumerous risk lociRecognition receptorsFibrocystic liver disease: novel concepts and translational perspectives
Lasagni A, Cadamuro M, Morana G, Fabris L, Strazzabosco M. Fibrocystic liver disease: novel concepts and translational perspectives. Translational Gastroenterology And Hepatology 2021, 6: 26-26. PMID: 33824930, PMCID: PMC7838530, DOI: 10.21037/tgh-2020-04.Peer-Reviewed Original ResearchFibrocystic liver diseaseAutosomal recessive polycystic kidney diseaseIntrahepatic bile ductsBile ductPeribiliary fibrosisLarge intrahepatic bile ductsSmall intrahepatic bile ductsBile duct dilationEmbryonic ductal plateTargeted medical therapyRenal function impairmentMain clinical manifestationsRecessive polycystic kidney diseaseSpectrum of disordersHepatic disease 1Polycystic kidney diseaseBiliary microhamartomasLiver transplantationPortal hypertensionRecurrent cholangitisBiliary changesBiliary cystsDuct dilationMedical therapySurgical treatmentCongenital Cystic Lesions of the Biliary Tree
Lasagni A, Morana G, Strazzabosco M, Fabris L, Cadamuro M. Congenital Cystic Lesions of the Biliary Tree. 2021, 19-46. DOI: 10.1007/978-3-030-65908-0_2.Peer-Reviewed Original ResearchFibropolycystic liver diseasePolycystic liver diseaseFibrocystic liver diseaseHepatorenal fibrocystic diseaseIntrahepatic bile ductsCholedochal cystLiver diseaseBile ductBiliary treeLarge intrahepatic bile ductsSmall intrahepatic bile ductsBile duct dilationRenal function impairmentEarly surgical interventionOnly curative approachCongenital cystic lesionsExtrahepatic bile ductDuctal plate malformationRecessive polycystic kidney diseasePotential therapeutic targetSpectrum of disordersGrowth of cystsPolycystic kidney diseaseBiliary microhamartomasLiver transplantation
2019
Fibrocystic Liver Disease
Cristoferi L, Morana G, Strazzabosco M, Fabris L. Fibrocystic Liver Disease. 2019, 201-218. DOI: 10.1007/978-3-319-96400-3_11.Peer-Reviewed Original ResearchHepatorenal fibrocystic diseaseCongenital hepatic fibrosisFibrocystic liver diseaseLiver diseaseCaroli's diseaseCholedochal cystEnd-stage liver diseaseBiliary duct dilationEmbryonic ductal plateAutosomal recessive polycystic kidney diseaseIntrahepatic bile ductsRecessive polycystic kidney diseasePolycystic kidney diseaseLiver transplantationDuct dilationHepatic involvementMultidisciplinary managementRenal diseaseMultiorgan involvementClinical manifestationsBile ductFibrocystic diseaseKidney diseaseBiliary treeHepatic fibrosis
2013
Protein kinase a‐dependent pSer675‐β‐catenin, a novel signaling defect in a mouse model of congenital hepatic fibrosis
Spirli C, Locatelli L, Morell CM, Fiorotto R, Morton SD, Cadamuro M, Fabris L, Strazzabosco M. Protein kinase a‐dependent pSer675‐β‐catenin, a novel signaling defect in a mouse model of congenital hepatic fibrosis. Hepatology 2013, 58: 1713-1723. PMID: 23744610, PMCID: PMC3800498, DOI: 10.1002/hep.26554.Peer-Reviewed Original ResearchConceptsAutosomal recessive polycystic kidney diseaseCongenital hepatic fibrosisCaroli's diseaseΒ-cateninHepatic fibrosisRac-1 inhibitionIntrahepatic bile ductsRecessive polycystic kidney diseasePotential therapeutic targetPolycystic kidney diseaseStimulation of cAMPRac-1 activityE-cadherin expressionBile ductKidney diseaseLiver pathologyCystic dysplasiaMouse modelTherapeutic targetTranscriptional activityNuclear translocationDiseasePKA blockerCholangiocytesFibrosisVascular biology of the biliary epithelium
Morell CM, Fabris L, Strazzabosco M. Vascular biology of the biliary epithelium. Journal Of Gastroenterology And Hepatology 2013, 28: 26-32. PMID: 23855292, PMCID: PMC3721432, DOI: 10.1111/jgh.12022.Peer-Reviewed Original ResearchMeSH KeywordsAngiopoietinsAnimalsAutocrine CommunicationBile Duct DiseasesBile Ducts, IntrahepaticEpithelial CellsEpitheliumHumansLiverLiver Diseases, AlcoholicLiver RegenerationNeovascularization, PathologicParacrine CommunicationPlatelet-Derived Growth FactorRatsSignal TransductionVascular Endothelial Growth Factor AConceptsBile ductIntrahepatic bile ductsHepatic arteryPeribiliary plexusUnderlying molecular mechanismsArterial supplyLiver repairNormal organ physiologyLiver pathophysiologyVascular cell typesPathophysiological settingsVascular structuresStrong associationVascular biologyDifferent vascular cell typesCholangiocytesAngiogenic signalsLiver developmentCell typesMolecular mechanismsOrgan physiologyDuctAssociationCross talk
2007
Epithelial expression of angiogenic growth factors modulate arterial vasculogenesis in human liver development
Fabris L, Cadamuro M, Libbrecht L, Raynaud P, Spirlì C, Fiorotto R, Okolicsanyi L, Lemaigre F, Strazzabosco M, Roskams T. Epithelial expression of angiogenic growth factors modulate arterial vasculogenesis in human liver development. Hepatology 2007, 47: 719-728. PMID: 18157837, DOI: 10.1002/hep.22015.Peer-Reviewed Original ResearchConceptsVascular endothelial growth factorHepatic arteryAngiogenic growth factorsBile ductAngiopoietin-1Tie-2Growth factorAngiopoietin-2VEGFR-1Endothelial cellsMural cellsCognate receptorsIntrahepatic bile ductsClose anatomical relationshipFetal human liverDifferent gestational agesEndothelial growth factorDifferent maturational stagesGestational ageHuman liver developmentImmunohistochemical expressionDuctal plateEpithelial expressionPortal vasculatureArtery