Literature DB >> 24614073

Mutations in TJP2 cause progressive cholestatic liver disease.

Melissa Sambrotta1, Sandra Strautnieks2, Efterpi Papouli3, Peter Rushton4, Barnaby E Clark4, David A Parry5, Clare V Logan5, Lucy J Newbury6, Binita M Kamath7, Simon Ling7, Tassos Grammatikopoulos8, Bart E Wagner9, John C Magee10, Ronald J Sokol11, Giorgina Mieli-Vergani8, Joshua D Smith12, Colin A Johnson5, Patricia McClean13, Michael A Simpson14, A S Knisely2, Laura N Bull15, Richard J Thompson8.   

Abstract

Elucidating genetic causes of cholestasis has proved to be important in understanding the physiology and pathophysiology of the liver. Here we show that protein-truncating mutations in the tight junction protein 2 gene (TJP2) cause failure of protein localization and disruption of tight-junction structure, leading to severe cholestatic liver disease. These findings contrast with those in the embryonic-lethal knockout mouse, highlighting differences in redundancy in junctional complexes between organs and species.

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Year:  2014        PMID： 24614073      PMCID： PMC4061468          DOI： 10.1038/ng.2918

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  19 in total

Review 1.  Molecular physiology and pathophysiology of tight junctions I. Tight junction structure and function: lessons from mutant animals and proteins.

Authors:  L L Mitic; C M Van Itallie; J M Anderson
Journal:  Am J Physiol Gastrointest Liver Physiol       Date:  2000-08       Impact factor: 4.052

2.  The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.

Authors:  Aaron McKenna; Matthew Hanna; Eric Banks; Andrey Sivachenko; Kristian Cibulskis; Andrew Kernytsky; Kiran Garimella; David Altshuler; Stacey Gabriel; Mark Daly; Mark A DePristo
Journal:  Genome Res       Date:  2010-07-19       Impact factor: 9.043

3.  Claudin-1 involved in neonatal ichthyosis sclerosing cholangitis syndrome regulates hepatic paracellular permeability.

Authors:  Brigitte Grosse; Doris Cassio; Nadya Yousef; Céline Bernardo; Emmanuel Jacquemin; Emmanuel Gonzales
Journal:  Hepatology       Date:  2012-03-01       Impact factor: 17.425

4.  Organization and expression of the human zo-2 gene (tjp-2) in normal and neoplastic tissues.

Authors:  A Chlenski; K V Ketels; G I Korovaitseva; M S Talamonti; R Oyasu; D G Scarpelli
Journal:  Biochim Biophys Acta       Date:  2000-10-02

5.  The Sequence Alignment/Map format and SAMtools.

Authors:  Heng Li; Bob Handsaker; Alec Wysoker; Tim Fennell; Jue Ruan; Nils Homer; Gabor Marth; Goncalo Abecasis; Richard Durbin
Journal:  Bioinformatics       Date:  2009-06-08       Impact factor: 6.937

6.  Origins and functional impact of copy number variation in the human genome.

Authors:  Donald F Conrad; Dalila Pinto; Richard Redon; Lars Feuk; Omer Gokcumen; Yujun Zhang; Jan Aerts; T Daniel Andrews; Chris Barnes; Peter Campbell; Tomas Fitzgerald; Min Hu; Chun Hwa Ihm; Kati Kristiansson; Daniel G Macarthur; Jeffrey R Macdonald; Ifejinelo Onyiah; Andy Wing Chun Pang; Sam Robson; Kathy Stirrups; Armand Valsesia; Klaudia Walter; John Wei; Chris Tyler-Smith; Nigel P Carter; Charles Lee; Stephen W Scherer; Matthew E Hurles
Journal:  Nature       Date:  2009-10-07       Impact factor: 49.962

7.  A framework for variation discovery and genotyping using next-generation DNA sequencing data.

Authors:  Mark A DePristo; Eric Banks; Ryan Poplin; Kiran V Garimella; Jared R Maguire; Christopher Hartl; Anthony A Philippakis; Guillermo del Angel; Manuel A Rivas; Matt Hanna; Aaron McKenna; Tim J Fennell; Andrew M Kernytsky; Andrey Y Sivachenko; Kristian Cibulskis; Stacey B Gabriel; David Altshuler; Mark J Daly
Journal:  Nat Genet       Date:  2011-04-10       Impact factor: 38.330

8.  Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor.

Authors:  William McLaren; Bethan Pritchard; Daniel Rios; Yuan Chen; Paul Flicek; Fiona Cunningham
Journal:  Bioinformatics       Date:  2010-06-18       Impact factor: 6.937

9.  Zonula occludens-1 and -2 regulate apical cell structure and the zonula adherens cytoskeleton in polarized epithelia.

Authors:  Alan S Fanning; Christina M Van Itallie; James M Anderson
Journal:  Mol Biol Cell       Date:  2011-12-21       Impact factor: 4.138

10.  Direct binding of three tight junction-associated MAGUKs, ZO-1, ZO-2, and ZO-3, with the COOH termini of claudins.

Authors:  M Itoh; M Furuse; K Morita; K Kubota; M Saitou; S Tsukita
Journal:  J Cell Biol       Date:  1999-12-13       Impact factor: 10.539
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  78 in total

1.  MDR3 mutation analysis: A step closer to precision medicine.

Authors:  Jorge A Bezerra
Journal:  Hepatology       Date:  2016-02-19       Impact factor: 17.425

Review 2.  Exome Sequencing in Clinical Hepatology.

Authors:  Sílvia Vilarinho; Pramod K Mistry
Journal:  Hepatology       Date:  2019-12       Impact factor: 17.425

Review 3.  Liver transplantation and the management of progressive familial intrahepatic cholestasis in children.

Authors:  Ashley Mehl; Humberto Bohorquez; Maria-Stella Serrano; Gretchen Galliano; Trevor W Reichman
Journal:  World J Transplant       Date:  2016-06-24

4.  Paediatric hepatocellular carcinoma in tight junction protein 2 (TJP2) deficiency.

Authors:  Mukul Vij; Naresh P Shanmugam; Mettu Srinivas Reddy; Srinivas Sankaranarayanan; Mohamed Rela
Journal:  Virchows Arch       Date:  2017-07-21       Impact factor: 4.064

Review 5.  The intestinal epithelial barrier: a therapeutic target?

Authors:  Matthew A Odenwald; Jerrold R Turner
Journal:  Nat Rev Gastroenterol Hepatol       Date:  2016-11-16       Impact factor: 46.802

6.  Mice with Hepatic Loss of the Desmosomal Protein γ-Catenin Are Prone to Cholestatic Injury and Chemical Carcinogenesis.

Authors:  Lili Zhou; Tirthadipa Pradhan-Sundd; Minakshi Poddar; Sucha Singh; Alex Kikuchi; Donna B Stolz; Weinian Shou; Zongfang Li; Kari N Nejak-Bowen; Satdarshan P Monga
Journal:  Am J Pathol       Date:  2015-10-17       Impact factor: 4.307

Review 7.  [Biliary atresia and congenital cholestatic syndromes : Characteristics before, after and during transition].

Authors:  N Junge; J Dingemann; C Petersen; M P Manns; N Richter; J Klempnauer; U Baumann; A Schneider
Journal:  Internist (Berl)       Date:  2018-11       Impact factor: 0.743

Review 8.  Blood-Bile Barrier: Morphology, Regulation, and Pathophysiology.

Authors:  Tirthadipa Pradhan-Sundd; Satdarshan Pal Monga
Journal:  Gene Expr       Date:  2019-01-15

9.  The cystic fibrosis transmembrane conductance regulator controls biliary epithelial inflammation and permeability by regulating Src tyrosine kinase activity.

Authors:  Romina Fiorotto; Ambra Villani; Antonis Kourtidis; Roberto Scirpo; Mariangela Amenduni; Peter J Geibel; Massimiliano Cadamuro; Carlo Spirli; Panos Z Anastasiadis; Mario Strazzabosco
Journal:  Hepatology       Date:  2016-10-27       Impact factor: 17.425

10.  New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin.

Authors:  Hamoud Alhebbi; Abdul Ali Peer-Zada; Abdulrahman A Al-Hussaini; Sara Algubaisi; Awad Albassami; Nasser AlMasri; Yasir Alrusayni; Ibrahim M Alruzug; Essa Alharby; Manar A Samman; Syed Zubair Ayoub; Sateesh Maddirevula; Roy W A Peake; Fowzan S Alkuraya; Sami Wali; Naif A M Almontashiri
Journal:  J Hum Genet       Date:  2020-08-06       Impact factor: 3.172
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