Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity

Farnesoid X Receptor ◽

Receptor Activity ◽

P0033 PP REDUCED EXPRESSION OF FARNESOID X RECEPTOR IN PATIENTS WITH PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 1

Journal of Pediatric Gastroenterology and Nutrition ◽

10.1097/00005176-200406001-00157 ◽

2004 ◽

Vol 39 (Supplement 1) ◽

pp. S68-S69

Author(s):

L. Alvarez ◽

P. Jara ◽

E. L??pez-Collazo ◽

M. C. D??az ◽

L. Hierro ◽

...

Keyword(s):

Farnesoid X Receptor ◽

Progressive familial intrahepatic cholestasis — farnesoid X receptor deficiency due to NR1H4 mutation: A case report

World Journal of Clinical Cases ◽

10.12998/wjcc.v9.i15.3631 ◽

2021 ◽

Vol 9 (15) ◽

pp. 3631-3636

Author(s):

Piotr Czubkowski ◽

Richard J Thompson ◽

Irena Jankowska ◽

A S Knisely ◽

Milton Finegold ◽

...

Keyword(s):

Case Report ◽

Farnesoid X Receptor ◽

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

Journal of Hepatology ◽

10.1016/s0168-8278(03)00286-1 ◽

2003 ◽

Vol 39 (3) ◽

pp. 447-452 ◽

Cited By ~ 119

Author(s):

Panayotis Lykavieris ◽

Saskia van Mil ◽

Danièle Cresteil ◽

Monique Fabre ◽

Michelle Hadchouel ◽

...

Keyword(s):

Liver Transplantation ◽

Liver Steatosis ◽

Catch Up

Total internal biliary diversion during liver transplantation for type 1 progressive familial intrahepatic cholestasis: a novel approach

Pediatric Transplantation ◽

10.1111/petr.12782 ◽

2016 ◽

Vol 20 (7) ◽

pp. 981-986 ◽

Cited By ~ 11

Author(s):

V. P. Mali ◽

A. Fukuda ◽

T. Shigeta ◽

H. Uchida ◽

Y. Hirata ◽

...

Keyword(s):

Liver Transplantation ◽

Novel Approach ◽

Biliary Diversion

Cholecysto-appendicostomy as partial internal biliary drainage in Progressive Familial Intrahepatic Cholestasis Type 1: A case report and review of literature

Journal of Pediatric Surgery Case Reports ◽

10.1016/j.epsc.2015.11.009 ◽

2016 ◽

Vol 4 ◽

pp. 17-21 ◽

Cited By ~ 1

Author(s):

Yee Ian Yik ◽

Mohd Yusran Othman ◽

Ruey Terng Ng ◽

Way Seah Lee

Keyword(s):

Case Report ◽

Biliary Drainage ◽

Review Of Literature ◽

Novel splice-site mutation inATP8B1results in atypical Progressive Familial Intrahepatic Cholestasis Type 1

Journal of Gastroenterology and Hepatology ◽

10.1111/j.1440-1746.2012.07290.x ◽

2013 ◽

Vol 28 (3) ◽

pp. 560-564 ◽

Cited By ~ 4

Author(s):

Emily Copeland ◽

Nisa Renault ◽

Marc Renault ◽

Sarah Dyack ◽

Dennis E Bulman ◽

...

Keyword(s):

Splice Site ◽

Splice Site Mutation ◽

Site Mutation ◽

O137 4-PHENYLBUTYLATE AMELIORATES LIVER FIBROSIS IN PATIENTS WITH PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS (PFIC) TYPE 2 AND PRURITUS IN PATIENTS WITH PFIC TYPE 1

Journal of Hepatology ◽

10.1016/s0168-8278(14)60139-2 ◽

2014 ◽

Vol 60 (1) ◽

pp. S58

Author(s):

Y. Hasegawa ◽

H. Kondou ◽

S. Naoi ◽

K. Bessho ◽

M. Ukitsu ◽

...

Keyword(s):

Liver Fibrosis ◽

Partial internal biliary diversion: A solution for intractable pruritus in progressive familial intrahepatic cholestasis type 1

Saudi Journal of Gastroenterology ◽

10.4103/1319-3767.80387 ◽

2011 ◽

Vol 17 (3) ◽

pp. 212 ◽

Cited By ~ 12

Author(s):

Ramaswamy Ganesh ◽

Natarajan Suresh ◽

Malathi Sathiyasekeran ◽

Priya Ramachandran

Keyword(s):

Biliary Diversion

Novel Variant ATP8B1 mutation in a child with progressive familial intrahepatic cholestasis (type 1)

Journal of Biochemical and Clinical Genetics ◽

10.24911/jbcgenetics/183-1581434307 ◽

2020 ◽

pp. 32-35

Author(s):

Nida Mirza ◽

Ravi Bharadwaj ◽

Smita Malhotra ◽

Anupam Sibal

Keyword(s):

Novel Variant

Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1

Hepatology ◽

10.1002/hep.23158 ◽

2009 ◽

Vol 50 (5) ◽

pp. 1597-1605 ◽

Cited By ~ 46

Author(s):

Dineke E. Folmer ◽

Vincent A. van der Mark ◽

Kam S. Ho-Mok ◽

Ronald P.J. Oude Elferink ◽

Coen C. Paulusma

Keyword(s):

Benign Recurrent Intrahepatic Cholestasis

Differential Effects ◽