Literature DB >> 23982690

Clinical utility gene card for: progressive familial intrahepatic cholestasis type 1.

Emmanuel Gonzales1, Anne Spraul2, Emmanuel Jacquemin1.   

Abstract

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Year:  2013        PMID： 23982690      PMCID： PMC3953912          DOI： 10.1038/ejhg.2013.186

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  20 in total

1.  A missense mutation in FIC1 is associated with greenland familial cholestasis.

Authors:  L W Klomp; L N Bull; A S Knisely; M A van Der Doelen; J A Juijn; R Berger; S Forget; I M Nielsen; H Eiberg; R H Houwen
Journal:  Hepatology       Date:  2000-12       Impact factor: 17.425

2.  Differences in presentation and progression between severe FIC1 and BSEP deficiencies.

Authors:  Ludmila Pawlikowska; Sandra Strautnieks; Irena Jankowska; Piotr Czubkowski; Karan Emerick; Anthony Antoniou; Catherine Wanty; Bjorn Fischler; Emmanuel Jacquemin; Sami Wali; Samra Blanchard; Inge-Merete Nielsen; Billy Bourke; Shirley McQuaid; Florence Lacaille; Jane A Byrne; Albertien M van Eerde; Kaija-Leena Kolho; Leo Klomp; Roderick Houwen; Peter Bacchetti; Steven Lobritto; Vera Hupertz; Patricia McClean; Giorgina Mieli-Vergani; Benjamin Shneider; Antal Nemeth; Etienne Sokal; Nelson B Freimer; A S Knisely; Philip Rosenthal; Peter F Whitington; Joanna Pawlowska; Richard J Thompson; Laura N Bull
Journal:  J Hepatol       Date:  2010-04-13       Impact factor: 25.083

3.  Recovery of graft steatosis and protein-losing enteropathy after biliary diversion in a PFIC 1 liver transplanted child.

Authors:  Emanuele Nicastro; Xavier Stephenne; Françoise Smets; Fabio Fusaro; Catherine de Magnée; Raymond Reding; Etienne M Sokal
Journal:  Pediatr Transplant       Date:  2011-06-15

4.  Heterozygous FIC1 deficiency: a new genetic predisposition to transient neonatal cholestasis.

Authors:  Emmanuel Jacquemin; Valérie Malan; Marlène Rio; Anne Davit-Spraul; Joseph Cohen; Pierre Landrieu; Olivier Bernard
Journal:  J Pediatr Gastroenterol Nutr       Date:  2010-04       Impact factor: 2.839

Review 5.  Progressive familial intrahepatic cholestasis type 1.

Authors:  Coen C Paulusma; Ronald P J Oude Elferink; Peter L M Jansen
Journal:  Semin Liver Dis       Date:  2010-04-26       Impact factor: 6.115

6.  A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.

Authors:  S S Strautnieks; L N Bull; A S Knisely; S A Kocoshis; N Dahl; H Arnell; E Sokal; K Dahan; S Childs; V Ling; M S Tanner; A F Kagalwalla; A Németh; J Pawlowska; A Baker; G Mieli-Vergani; N B Freimer; R M Gardiner; R J Thompson
Journal:  Nat Genet       Date:  1998-11       Impact factor: 38.330

7.  ATP8B1 requires an accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity.

Authors:  Coen C Paulusma; Dineke E Folmer; Kam S Ho-Mok; D Rudi de Waart; Petra M Hilarius; Arthur J Verhoeven; Ronald P J Oude Elferink
Journal:  Hepatology       Date:  2008-01       Impact factor: 17.425

8.  ATP8B1 is essential for maintaining normal hearing.

Authors:  Janneke M Stapelbroek; Theo A Peters; Denis H A van Beurden; Jo H A J Curfs; Anneke Joosten; Andy J Beynon; Bibian M van Leeuwen; Lieke M van der Velden; Laura Bull; Ronald P Oude Elferink; Bert A van Zanten; Leo W J Klomp; Roderick H J Houwen
Journal:  Proc Natl Acad Sci U S A       Date:  2009-05-28       Impact factor: 11.205

9.  Progressive familial intrahepatic cholestasis type 1 and extrahepatic features: no catch-up of stature growth, exacerbation of diarrhea, and appearance of liver steatosis after liver transplantation.

Authors:  Panayotis Lykavieris; Saskia van Mil; Danièle Cresteil; Monique Fabre; Michelle Hadchouel; Leo Klomp; Olivier Bernard; Emmanuel Jacquemin
Journal:  J Hepatol       Date:  2003-09       Impact factor: 25.083

Review 10.  Progressive familial intrahepatic cholestasis.

Authors:  Anne Davit-Spraul; Emmanuel Gonzales; Christiane Baussan; Emmanuel Jacquemin
Journal:  Orphanet J Rare Dis       Date:  2009-01-08       Impact factor: 4.123
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  2 in total

Review 1.  Clinical phenotype and molecular analysis of a homozygous ABCB11 mutation responsible for progressive infantile cholestasis.

Authors:  Kazuo Imagawa; Hisamitsu Hayashi; Yusuke Sabu; Ken Tanikawa; Jun Fujishiro; Daigo Kajikawa; Hiroki Wada; Toyoichiro Kudo; Masayoshi Kage; Hiroyuki Kusuhara; Ryo Sumazaki
Journal:  J Hum Genet       Date:  2018-03-05       Impact factor: 3.172

2.  Case Report: A Rare Case of Benign Recurrent Intrahepatic Cholestasis-Type 1 With a Novel Heterozygous Pathogenic Variant of ATP8B1.

Authors:  Hiroyuki Suzuki; Teruko Arinaga-Hino; Tomoya Sano; Yutaro Mihara; Hironori Kusano; Tatsuki Mizuochi; Takao Togawa; Shogo Ito; Tatsuya Ide; Reiichiro Kuwahara; Keisuke Amano; Toshihiro Kawaguchi; Hirohisa Yano; Masayoshi Kage; Hironori Koga; Takuji Torimura
Journal:  Front Med (Lausanne)       Date:  2022-04-29
  2 in total

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