Literature DB >> 17307554

Neonatal cholestatic jaundice as the first symptom of a mutation in the hepatocyte nuclear factor-1beta gene (HNF-1beta).

Dominique Beckers1, Christine Bellanné-Chantelot, Marc Maes.   

Abstract

This report describes the phenotype of a novel de novo heterozygous frameshift mutation in the hepatocyte nuclear factor-1beta gene (HNF-1beta or TCF2) manifest as a neonatal paucity of intrahepatic bile ducts. HNF-1beta mutations should be considered in neonates with cholestatic jaundice associated with renal malformation or diabetes mellitus.

Entities:  

Mesh：

Substances：

Year:  2007        PMID： 17307554     DOI： 10.1016/j.jpeds.2006.12.006

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  13 in total

Review 1.  Hepatic phenotypes of HNF1B gene mutations: a case of neonatal cholestasis requiring portoenterostomy and literature review.

Authors:  Radana Kotalova; Petra Dusatkova; Ondrej Cinek; Lenka Dusatkova; Tomas Dedic; Tomas Seeman; Jan Lebl; Stepanka Pruhova
Journal:  World J Gastroenterol       Date:  2015-02-28       Impact factor: 5.742

2.  Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.

Authors:  Laurence Heidet; Stéphane Decramer; Audrey Pawtowski; Vincent Morinière; Flavio Bandin; Bertrand Knebelmann; Anne-Sophie Lebre; Stanislas Faguer; Vincent Guigonis; Corinne Antignac; Rémi Salomon
Journal:  Clin J Am Soc Nephrol       Date:  2010-04-08       Impact factor: 8.237

Review 3.  HNF1B-associated clinical phenotypes: the kidney and beyond.

Authors:  Detlef Bockenhauer; Graciana Jaureguiberry
Journal:  Pediatr Nephrol       Date:  2015-07-08       Impact factor: 3.714

4.  A classification of ductal plate malformations based on distinct pathogenic mechanisms of biliary dysmorphogenesis.

Authors:  Peggy Raynaud; Joshua Tate; Céline Callens; Sabine Cordi; Patrick Vandersmissen; Rodolphe Carpentier; Christine Sempoux; Olivier Devuyst; Christophe E Pierreux; Pierre Courtoy; Karin Dahan; Katty Delbecque; Sébastien Lepreux; Marco Pontoglio; Lisa M Guay-Woodford; Frédéric P Lemaigre
Journal:  Hepatology       Date:  2011-05-02       Impact factor: 17.425

5.  Efficacy of extracorporeal albumin dialysis for acute kidney injury due to cholestatic jaundice nephrotoxicity.

Authors:  Florence Sens; Justine Bacchetta; Maud Rabeyrin; Laurent Juillard
Journal:  BMJ Case Rep       Date:  2016-07-07

6.  Structural basis of disease-causing mutations in hepatocyte nuclear factor 1beta.

Authors:  Peng Lu; Geun Bae Rha; Young-In Chi
Journal:  Biochemistry       Date:  2007-10-09       Impact factor: 3.162

7.  Specification of hepatopancreas progenitors in zebrafish by hnf1ba and wnt2bb.

Authors:  Joseph J Lancman; Natasha Zvenigorodsky; Keith P Gates; Danhua Zhang; Keely Solomon; Rohan K Humphrey; Taiyi Kuo; Linda Setiawan; Heather Verkade; Young-In Chi; Ulupi S Jhala; Christopher V E Wright; Didier Y R Stainier; P Duc Si Dong
Journal:  Development       Date:  2013-05-29       Impact factor: 6.868

8.  Concurrent course of transient neonatal diabetes with cholestasis and paucity of interlobular bile ducts: a case report.

Authors:  Alan P Kenny; Nancy A Crimmins; Deborah J G Mackay; Robert J Hopkin; Kevin E Bove; Mike A Leonis
Journal:  Pediatr Dev Pathol       Date:  2009 Sep-Oct

9.  Exocrine pancreatic dysfunction is common in hepatocyte nuclear factor 1β-associated renal disease and can be symptomatic.

Authors:  Rhian L Clissold; Jon Fulford; Michelle Hudson; Beverley M Shields; Timothy J McDonald; Sian Ellard; Andrew T Hattersley; Coralie Bingham
Journal:  Clin Kidney J       Date:  2018-01-30

Review 10.  HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.

Authors:  Rhian L Clissold; Alexander J Hamilton; Andrew T Hattersley; Sian Ellard; Coralie Bingham
Journal:  Nat Rev Nephrol       Date:  2014-12-23       Impact factor: 28.314
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.