rs1568793309
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1569518070
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs757075712
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs2287622
|
|
|
0.030 |
GeneticVariation |
BEFREE |
A common variant of BSEP (p.V444A) is now a well-established susceptibility factor for acquired cholestasis and recent evidence suggests that the same variant also influences the therapeutic response and disease progression of viral hepatitis C. Studies in large independent cohorts are now needed to confirm the relevance of p.V444A.
|
21320040 |
2011 |
rs28937590
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A homozygous point mutation (232A-->G) has been found as the genetic etiology for fetal growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death (GRACILE) syndrome (MIM 603358).
|
18386115 |
2008 |
rs886043118
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation-A case report and review of the literature.
|
27117246 |
2018 |
rs886043118
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
rs72552778
|
|
|
0.010 |
GeneticVariation |
BEFREE |
ABCB4(S320F) homozygosity, with half the normal level of ABCB4, is the tipping point between more benign and potentially fatal cholestasis and makes these patients more acutely sensitive to environmental effects.
|
24806754 |
2014 |
rs1007211
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Estradiol-17β-D-glucuronide (E17G), through the activation of different signaling proteins, induces acute endocytic internalization of canalicular transporters in rat, including multidrug resistance-associated protein 2 (Abcc2) and bile salt export pump (Abcb11), generating cholestasis.
|
29090346 |
2018 |
rs1214110864
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Four highly conserved nonsynonymous mutations were specific for drug-induced liver injury [ABCB11: D676Y (drug-induced cholestasis) and G855R (drug-induced cholestasis); ABCB4: I764L (drug-induced cholestasis) and L1082Q (drug-induced hepatocellular injury)].
|
17264802 |
2007 |
rs2287622
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Furthermore, a polymorphism in exon 13 of ABCB11 (V444A), which is associated with decreased hepatic BSEP expression was significantly more frequent in drug-induced cholestasis patients than in drug-induced hepatocellular injury patients and healthy controls (76 versus 50 and 59% in drug-induced cholestasis patients, drug-induced hepatocellular injury patients and healthy controls, respectively; P<0.05).
|
17264802 |
2007 |
rs113090017
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Heterozygous termination codon mutation of NR1H4 R176X was found in idiopathic infantile cholestasis.
|
21633855 |
2012 |
rs2230028
|
|
|
0.010 |
GeneticVariation |
BEFREE |
MDR3 R652G is negatively correlated with idiopathic infant cholestasis.
|
19998509 |
2009 |
rs2287622
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Our data support a role for the ABCB11 1331T>C polymorphism as a susceptibility factor for the development of estrogen-induced cholestasis, whereas no such association was found for ABCC2.
|
18176959 |
2008 |
rs1310517469
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Six novel mutations (PKHD1: p.Thr777Met, p.Tyr2260Cys; ABCB11: p.Val1112Phe, c.611+1G > A, p.Gly628Trpfs*3 and NPC1: p.Glu391Lys) and two known pathogenic mutations were detected proving our multi gene panel for infantile cholestasis to be a sensitive and specific method overcoming the complexity of the phenotype-based, candidate gene approach.
|
25771912 |
2015 |
rs1799971
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The possibility of protection from pruritus associated with A118G supports the study of genetic polymorphisms of the OPRM1 gene in patients with cholestasis.
|
18709298 |
2008 |
rs121908106
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We demonstrate that the cholestasis-associated P660L mutation in myoVb caused the intracellular accumulation of bile canalicular proteins in vesicular compartments.
|
31750554 |
2019 |
rs61750420
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We show that Pex1-G844D homozygous mice recapitulate many classic features of mild ZSD cases, including growth retardation and fatty livers with cholestasis.
|
24503136 |
2014 |