Literature DB >> 30266155

Progressive Familial Intrahepatic Cholestasis.

Laura N Bull1, Richard J Thompson2.   

Abstract

Genetic cholestasis has been dissected through genetic investigation. The major PFIC genes are now described. ATP8B1 encodes FIC1, ABCB11 encodes BSEP, ABCB4 encodes MDR3, TJP2 encodes TJP2, NR1H4 encodes FXR, and MYO5B encodes MYO5B. The full spectra of phenotypes associated with mutations in each gene are discussed, along with our understanding of the disease mechanisms. Differences in treatment response and targets for future treatment are emerging.
Copyright © 2018 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Bile acids; Cholestasis; Genetics; PFIC; Pediatrics

Mesh：

Substances：

Year:  2018        PMID： 30266155     DOI： 10.1016/j.cld.2018.06.003

Source DB:  PubMed          Journal:  Clin Liver Dis        ISSN： 1089-3261            Impact factor:   6.126


  39 in total

1.  Long-term outcome following cholecystocolostomy in 41 patients with progressive familial intrahepatic cholestasis.

Authors:  Qianqing Li; Clara Chong; Rui Sun; Tong Yin; Ting Huang; Mei Diao; Long Li
Journal:  Pediatr Surg Int       Date:  2021-03-02       Impact factor: 1.827

2.  GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements.

Authors:  Peter H Dixon; Adam P Levine; Inês Cebola; Daniel P Gale; Catherine Williamson; Melanie M Y Chan; Aliya S Amin; Anshul Aich; Monika Mozere; Hannah Maude; Alice L Mitchell; Jun Zhang; Jenny Chambers; Argyro Syngelaki; Jennifer Donnelly; Sharon Cooley; Michael Geary; Kypros Nicolaides; Malin Thorsell; William M Hague; Maria Cecilia Estiu; Hanns-Ulrich Marschall
Journal:  Nat Commun       Date:  2022-08-17       Impact factor: 17.694

3.  Induction of Bile Canaliculi-Forming Hepatocytes from Human Pluripotent Stem Cells.

Authors:  Lavinija Matakovic; Arend W Overeem; Karin Klappe; Sven C D van IJzendoorn
Journal:  Methods Mol Biol       Date:  2022

4.  Progressive Familial Intrahepatic Cholestasis: A Study in Children From a Liver Transplant Center in India.

Authors:  Sagar Mehta; Karunesh Kumar; Ravi Bhardwaj; Smita Malhotra; Neerav Goyal; Anupam Sibal
Journal:  J Clin Exp Hepatol       Date:  2021-06-13

5.  Effects of partial internal biliary diversion on long-term outcomes in patients with progressive familial intrahepatic cholestasis: experience in 44 patients.

Authors:  Hamid Reza Foroutan; Ali Bahador; Sultan Mohsin Ghanim; Seyed Mohsen Dehghani; Mohammad Hossein Anbardar; Mohammad Reza Fattahi; Mehdi Forooghi; Omidreza Azh; Ali Tadayon; Alireza Sherafat; Amir Arsalan Yaghoobi; Mohammad Ali Ashraf
Journal:  Pediatr Surg Int       Date:  2020-03-23       Impact factor: 1.827

6.  Advanced Microscopy for Liver and Gut Ultrastructural Pathology in Patients with MVID and PFIC Caused by MYO5B Mutations.

Authors:  Michael W Hess; Iris M Krainer; Przemyslaw A Filipek; Barbara Witting; Karin Gutleben; Ilja Vietor; Heinz Zoller; Denise Aldrian; Ekkehard Sturm; James R Goldenring; Andreas R Janecke; Thomas Müller; Lukas A Huber; Georg F Vogel
Journal:  J Clin Med       Date:  2021-04-28       Impact factor: 4.964

7.  A Report of 2 Infant Siblings with Progressive Intrahepatic Familial Cholestasis Type 1 and a Novel Homozygous Mutation in the ATP8B1 Gene Treated with Partial External Biliary Diversion and Liver Transplant.

Authors:  Irena Jankowska; Joanna Pawłowska; Marek Szymczak; Hor Ismail; Dorota Broniszczak; Joanna Cielecka-Kuszyk; Piotr Socha; Dorota Jarzębicka; Piotr Czubkowski
Journal:  Am J Case Rep       Date:  2021-07-20

8.  Mutation Analysis and Disease Features at Presentation in a Multi-Center Cohort of Children With Monogenic Cholestasis.

Authors:  Paula M Hertel; Laura N Bull; Richard J Thompson; Nathan P Goodrich; Wen Ye; John C Magee; Robert H Squires; Lee M Bass; James E Heubi; Grace E Kim; Sarangarajan Ranganathan; Kathleen B Schwarz; Molly A Bozic; Simon P Horslen; Matthew S Clifton; Yumirle P Turmelle; Frederick J Suchy; Riccardo A Superina; Kasper S Wang; Kathleen M Loomes; Binita M Kamath; Ronald J Sokol; Benjamin L Shneider
Journal:  J Pediatr Gastroenterol Nutr       Date:  2021-08-01       Impact factor: 3.288

Review 9.  Fibrotic Events in the Progression of Cholestatic Liver Disease.

Authors:  Hanghang Wu; Chaobo Chen; Siham Ziani; Leonard J Nelson; Matías A Ávila; Yulia A Nevzorova; Francisco Javier Cubero
Journal:  Cells       Date:  2021-05-05       Impact factor: 6.600

Review 10.  Targeting the Four Pillars of Enterohepatic Bile Salt Cycling; Lessons From Genetics and Pharmacology.

Authors:  Roni F Kunst; Henkjan J Verkade; Ronald P J Oude Elferink; Stan F J van de Graaf
Journal:  Hepatology       Date:  2021-05-24       Impact factor: 17.425
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