|
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
From August 2003 to November 2014, 34 clinically diagnosed children, including 11 with familial intrahepatic cholestasis-1 (FIC1), 13 with bile salt export pump (BSEP) disease, five with low γ-glutamyl transpeptidase (GGT) disease (levels <100 U/L), and five with multidrug resistance class III (MDR3) disease with high GGT (>100 U/L), were identified in our center.
|
29934967 |
2018 |
|
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mice with dual catenin loss develop progressive intrahepatic cholestasis, providing a unique model to study diseases such as PFIC.(Hepatology 2018;67:2320-2337).
|
29023813 |
2018 |
|
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Progressive familial intrahepatic cholestasis (PFIC) is caused by variations in ATP8B1, ABCB11 or ABCB4 genes.
|
29973134 |
2018 |
|
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The first three types of PFICs identified (PFIC1, PFIC2, and PFIC3) represent defects in FIC1 (ATP8B1), BSEP (ABCB11), or MDR3 (ABCB4).
|
30367658 |
2018 |
|
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Thus far, five representatives of PFIC (named PFIC1-5) caused by pathogenic mutations present in both alleles of <i>ATP8B1</i>, <i>ABCB11</i>, <i>ABCB4</i>, <i>TJP2,</i> and <i>NR1H4</i> have been described.
|
30148122 |
2018 |
|
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Familial intrahepatic cholestasis 1 (FIC1) deficiency is caused by a mutation in the ATP8B1 gene.
|
28045770 |
2017 |
|
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A Novel Truncation Mutation in ATP8B1 Gene in Progressive Familial Intrahepatic Cholestasis.
|
28064265 |
2016 |
|
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
Biomarker
|
disease |
BEFREE |
Rescue of defective ATP8B1 trafficking by CFTR correctors as a therapeutic strategy for familial intrahepatic cholestasis.
|
26879107 |
2016 |
|
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
Biomarker
|
disease |
BEFREE |
The three subtypes of PFIC are defined by the involved genes: PFIC-1, PFIC-2, and PFIC-3 are due to mutations of P-type ATPase ATP8B1 (familial intrahepatic cholestasis 1, FIC1), the ATP binding cassette transporter ABCB11 (bile salt export pump, BSEP), or ABCB4 (multidrug resistance protein 3, MDR3), respectively.
|
25342496 |
2015 |
|
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genetic testing should also be considered, as mutations in the hepatobiliary transporters ATP8B1, ABCB11 and ABCB4 are causative for three different forms of familial intrahepatic cholestasis.
|
23797137 |
2013 |
|
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the P4-ATPase ATP8B1 cause the inherited liver disease progressive familial intrahepatic cholestasis.
|
23060447 |
2012 |
|
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report on NR1H4 analysis in eight patients with progressive familial intrahepatic cholestasis (PFIC) and in eight women with either ICP and/or drug-induced cholestasis (DIC) in whom no disease causing mutation in ATP8B1, ABCB11 and/or ABCB4 were found.
|
23142591 |
2012 |
|
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Progressive familial intrahepatic cholestasis (PFIC), types 1, 2 and 3, are due to defects in genes involved in bile secretion (FIC1, BSEP, MDR3).
|
22609295 |
2012 |
|
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis.
|
23197899 |
2012 |
|
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT.
|
20038848 |
2010 |
|
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ATP8B1 (FIC1) underlie cases of cholestatic disease, ranging from chronic and progressive (progressive familial intrahepatic cholestasis) to intermittent (benign recurrent intrahepatic cholestasis).
|
20126555 |
2010 |
|
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Progressive familial intrahepatic cholestasis (PFIC) with normal serum levels of gamma-glutamyltranspeptidase can result from mutations in ATP8B1 (encoding familial intrahepatic cholestasis 1 [FIC1]) or ABCB11 (encoding bile salt export pump [BSEP]).
|
20447715 |
2010 |
|
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We retrospectively reviewed charts of 62 children with normal-GGT PFIC in whom a search for ATP8B1 and/or ABCB11 mutation, liver BSEP immunostaining, and/or bile analysis were performed.
|
20232290 |
2010 |
|
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
It was conducted on 14 children with PFIC and their families; 10 with a PFIC1 or PFIC2 phenotype and 4 with a PFIC3 phenotype.
|
20414253 |
2010 |
|
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Progressive familial intrahepatic cholestasis (PFIC) type 1, 2 and 3 are due to mutations in ATP8B1, ABCB11 and ABCB4, respectively.
|
20955958 |
2010 |
|
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Because expression of the familial intrahepatic cholestasis 1 gene occurs in several organs, including the small intestine, pancreas, and liver, and it is involved in enterohepatic bile acid circulation, post-LT steatosis may be due to a malfunction of the ATP8B1 product.
|
19479804 |
2009 |
|
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
AGS patients, and PFIC patients with familial intrahepatic cholestasis 1 (FIC1) genotype, responded better to PEBD than PFIC patients with bile salt export protein (BSEP) genotype.
|
18937870 |
2008 |
|
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We developed a denaturing high-performance liquid chromatography (DHPLC) method to screen patients with PFIC for mutations in ATP8B1 and ABCB11, and combined genetic analyses with immunolabeling in liver for the ABCB11 and ABCB4 gene products.
|
16868810 |
2006 |
|
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genetic studies have demonstrated that the disorder is the result of a mutation in ATP8BI, a gene that codes for the FIC1 (familial intrahepatic cholestasis) protein, which is also affected in other forms of familial intrahepatic cholestasis.
|
15062197 |
2004 |
|
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report the genomic organization of ATP8B1 and mutation analyses of 180 families with PFIC or BRIC that identified 54 distinct disease mutations, including 10 mutations predicted to disrupt splicing, 6 nonsense mutations, 11 small insertion or deletion mutations predicted to induce frameshifts, 1 large genomic deletion, 2 small inframe deletions, and 24 missense mutations.
|
15239083 |
2004 |