|
Cholestasis of pregnancy
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Cholestasis of pregnancy
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
MDR3 promoter activity of promoter constructs carrying different ICP-specific mutations was studied using reporter assays.
|
15077010 |
2004 |
|
Cholestasis of pregnancy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
MDR3 gene variants in exons 14, 15 and 16 occurred in 7/96 of pregnant mothers with intrahepatic cholestasis of pregnancy (7.2%), and in none of 96 pregnant controls matched for age and parity.
|
18083082 |
2008 |
|
Cholestasis of pregnancy
|
0.600 |
Biomarker
|
disease |
BEFREE |
ABCB4 deficiency can result in altered PC to bile salt ratios, which led to intrahepatic cholestasis of pregnancy, low phospholipid associated cholelithiasis, drug induced liver injury or even progressive familial intrahepatic cholestasis type 3.
|
30730833 |
2019 |
|
Cholestasis of pregnancy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
ABCB4 gene encodes the multidrug resistant protein 3 (MDR3) and its mutations induce PFIC3 as well as intrahepatic cholestasis of pregnancy (ICP) and drug-induced liver injury (DILI).
|
31568708 |
2019 |
|
Cholestasis of pregnancy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A Bayesian analysis involving MDR3, BSEP, FIC1 and an unknown locus gave a posterior probability of >0.9966 in favor of MDR3 as causative ICP locus.
|
17187437 |
2007 |
|
Cholestasis of pregnancy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A common BSEP polymorphism as well as a rare MDR3 mutation may underlie the development of ICP in our patient.
|
27936482 |
2016 |
|
Cholestasis of pregnancy
|
0.600 |
Biomarker
|
disease |
BEFREE |
Draw attention to this rare disease, especially in adulthood, and clarify the association between ICP and PFIC 3.
|
26699824 |
2016 |
|
Cholestasis of pregnancy
|
0.600 |
Biomarker
|
disease |
BEFREE |
For molecular genetic analysis, 16 individuals from two independently ascertained Finnish ICP families were genotyped for the flanking markers for BSEP, FIC1, and MDR3.
|
12801961 |
2003 |
|
Cholestasis of pregnancy
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
In addition, genetic variants (as well as mutants) of the genes coding for the phosphatidylcholine translocator MDR3 and BSEP and for the farnesoid X receptor, which is critical in the transcriptional activation of MDR3 ( ABCB4) and BSEP ( ABCB11) have been associated with intrahepatic cholestasis of pregnancy.
|
20422497 |
2010 |
|
Cholestasis of pregnancy
|
0.600 |
Biomarker
|
disease |
BEFREE |
In clinical practice, a comprehensive ABCB4 alteration-screening algorithm will permit the use of ABCB4 genotyping to confirm the diagnosis of LPAC or ICP/CIC, and allow familial testing.
|
21989363 |
2012 |
|
Cholestasis of pregnancy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In contrast with ABCB11 haplotypes, ABCB4 haplotypes differed between the two groups (p = 0.019), showing that the severe form of cholestasis of pregnancy is associated with the ABCB4 gene variants.
|
16891356 |
2007 |
|
Cholestasis of pregnancy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In this prospective study, the entire ABCB4 gene coding sequence was analysed by DNA sequencing in 50 unrelated women with ICP defined by pruritus and raised serum alanine aminotransferase activity or bile acid concentration, with recovery after delivery.
|
19584064 |
2009 |
|
Cholestasis of pregnancy
|
0.600 |
Biomarker
|
disease |
BEFREE |
Low phospholipid-associated cholelithiasis and intrahepatic cholestasis of pregnancy are two MDR3-related inherited liver disorders caused by biallelic or monoallelic ABCB4 loss-of-function variants.
|
30449124 |
2019 |
|
Cholestasis of pregnancy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Moreover, MDR3 mutations predispose to cholestasis of pregnancy and drug-induced cholestasis.
|
17295178 |
2007 |
|
Cholestasis of pregnancy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Novel heterozygous ABCB4 gene mutation causing recurrent first-trimester intrahepatic cholestasis of pregnancy.
|
25179380 |
2014 |
|
Cholestasis of pregnancy
|
0.600 |
Biomarker
|
disease |
BEFREE |
Numerous studies have investigated the association of known cholestasis genes such as ABCB4 (also designated MDR3), ABCB11 ( BSEP) and ATP8B1 ( FIC1) with ICP.
|
15248112 |
2004 |
|
Cholestasis of pregnancy
|
0.600 |
SusceptibilityMutation
|
disease |
ORPHANET |
Our data support the hypothesis of a significant involvement of ABCB4 mutations in the onset of ICP, but also confirm an important role for ABCB11 mutations in increasing the susceptibility to cholestasis of pregnancy.
|
23022423 |
2013 |
|
Cholestasis of pregnancy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Our data support the hypothesis of a significant involvement of ABCB4 mutations in the onset of ICP, but also confirm an important role for ABCB11 mutations in increasing the susceptibility to cholestasis of pregnancy.
|
23022423 |
2013 |
|
Cholestasis of pregnancy
|
0.600 |
Biomarker
|
disease |
BEFREE |
Serum bile acid and gamma-glutamyl transferase levels might help to distinguish ABCB4- and ABCB11-related forms of ICP and CIC.
|
18176959 |
2008 |
|
Cholestasis of pregnancy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Several diseases including progressive familial intrahepatic cholestasis type 3 (PFIC3), low phospholipid-associated cholelithiasis (LPAC), a subgroup of patients developing intrahepatic cholestasis of pregnancy (ICP), drug-induced liver injury and chronic cholangiopathy with biliary fibrosis and cirrhosis were attributed to ABCB4 deficiency and characterized in the past decade.
|
30357767 |
2018 |
|
Cholestasis of pregnancy
|
0.600 |
Biomarker
|
disease |
BEFREE |
Several mutations of ABCB4 have been identified, which cause cholestatic liver diseases of varying severity including progressive familial intrahepatic cholestasis type 3 (PFIC-3), intrahepatic cholestasis of pregnancy (ICP) and the low phospholipid associated cholelithiasis syndrome (LPAC).
|
21638239 |
2011 |
|
Cholestasis of pregnancy
|
0.600 |
Biomarker
|
disease |
BEFREE |
The cause of ICP remains elusive, but there is evidence that mutations in the canalicular ABC transporter phospholipid flippase (MDR3) and in the bile salt export pump (BSEP) can predispose for the development of ICP.
|
16890614 |
2006 |
|
Cholestasis of pregnancy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The clinical features (age at onset, high prevalence in women, frequency and severity of acute and chronic complications, intrahepatic cholestasis of pregnancy [ICP]) were similar in the patients with or without ABCB4 gene sequence variation.
|
23533021 |
2013 |
|
Cholestasis of pregnancy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The demonstration of a heterozygous missense mutation in the MDR3 gene in a patient with ICP with no known family history of PFIC, analysed by functional studies, is a novel finding.
|
10767346 |
2000 |