Cholestasis, progressive familial intrahepatic 1
|
0.800 |
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 |
Cholestasis, progressive familial intrahepatic 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Progressive familial intrahepatic cholestasis (PFIC) is caused by variations in ATP8B1, ABCB11 or ABCB4 genes.
|
29973134 |
2018 |
Cholestasis, progressive familial intrahepatic 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Because of the difficulty of discriminating PFIC1 from other subtypes of PFIC based on its clinical and histological features and genome sequencing, an alternative method for diagnosing PFIC1 is desirable.
|
29104077 |
2018 |
Cholestasis, progressive familial intrahepatic 1
|
0.800 |
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 |
Cholestasis, progressive familial intrahepatic 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ATP8B1 or ATP11C (members of P4-type ATPases) cause progressive familial intrahepatic cholestasis type 1 in human or intrahepatic cholestasis in mice.
|
28919113 |
2017 |
Cholestasis, progressive familial intrahepatic 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A Novel Truncation Mutation in ATP8B1 Gene in Progressive Familial Intrahepatic Cholestasis.
|
28064265 |
2016 |
Cholestasis, progressive familial intrahepatic 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Rescue of defective ATP8B1 trafficking by CFTR correctors as a therapeutic strategy for familial intrahepatic cholestasis.
|
26879107 |
2016 |
Cholestasis, progressive familial intrahepatic 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Cholestasis, progressive familial intrahepatic 1
|
0.800 |
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 |
Cholestasis, progressive familial intrahepatic 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study analyzed routine clinical practice and outcomes of children with Byler disease (defined by homozygous c.923G>T mutation in ATP8b1), who initially presented to Children's Hospital of Pittsburgh of UPMC between January 2007 and October 2014.
|
25825852 |
2015 |
Cholestasis, progressive familial intrahepatic 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutation of ATP8B1 cause progressive familial Intrahepatic Cholestasis type 1 (PFIC1)and benign recurrent intrahepatic cholestasis type 1 (BRIC 1).
|
26045263 |
2015 |
Cholestasis, progressive familial intrahepatic 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Here we have studied the hypothesis that intestinal ATP8B1 deficiency results in bile salt malabsorption as a possible cause of PFIC1/BRIC1 diarrhea.
|
25239307 |
2014 |
Cholestasis, progressive familial intrahepatic 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Progressive familial intrahepatic cholestasis type 1 (PFIC1), an inherited liver disease caused by mutations in ATP8B1, progresses to severe cholestasis with a sustained intractable itch.
|
25022842 |
2014 |
Cholestasis, progressive familial intrahepatic 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Some ATP8B1 mutants found in patients of progressive familial intrahepatic cholestasis type 1 (PFIC1), a severe liver disease caused by impaired bile flow, failed to translocate PC despite their delivery to the plasma membrane.
|
25315773 |
2014 |
Cholestasis, progressive familial intrahepatic 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This result was unexpected because ATP8B1 mutations are associated with progressive familial intrahepatic cholestasis type 1 (PFIC1).
|
23033845 |
2013 |
Cholestasis, progressive familial intrahepatic 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis.
|
23197899 |
2012 |
Cholestasis, progressive familial intrahepatic 1
|
0.800 |
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 |
Cholestasis, progressive familial intrahepatic 1
|
0.800 |
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 |
Cholestasis, progressive familial intrahepatic 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis.
|
23197899 |
2012 |
Cholestasis, progressive familial intrahepatic 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the P4-ATPase ATP8B1 cause the inherited liver disease progressive familial intrahepatic cholestasis.
|
23060447 |
2012 |
Cholestasis, progressive familial intrahepatic 1
|
0.800 |
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 |
Cholestasis, progressive familial intrahepatic 1
|
0.800 |
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 |
Cholestasis, progressive familial intrahepatic 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT.
|
20038848 |
2010 |
Cholestasis, progressive familial intrahepatic 1
|
0.800 |
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 |
Cholestasis, progressive familial intrahepatic 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Folding defects in P-type ATP 8B1 associated with hereditary cholestasis are ameliorated by 4-phenylbutyrate.
|
19918981 |
2010 |