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Genes (45)
Species:
human : 45 | |
| Human | OSTalpha | 200931 | | These results indicate that expression of Ostalpha and Ostbeta are highly regulated in response to cholestasis and that this response is dependent on the FXR bile acid receptor | | Human | GFM1 | 85476 | G elongation factor, mitochondrial 1 | | | Human | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | INFERRED, Score=800, UMLKSK CUI: C0008370 | | Human | C10orf2 | 56652 | chromosome 10 open reading frame 2 | | | Human | UQCRQ | 27089 | ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa | | | Human | HEY2 | 23493 | hairy/enhancer-of-split related with YRPW motif 2 | INFERRED, Score=800, UMLKSK CUI: C0008370 | | Human | ABCC4 | 10257 | ATP-binding cassette, sub-family C (CFTR/MRP), member 4 | cholestasis is one major determinant of human hepatic MRP4 expression | | Human | SLC25A13 | 10165 | solute carrier family 25 (aspartate/glutamate carrier), member 13 | INFERRED, Score=800, UMLKSK CUI: C0008370 | | Human | NR1H4 | 9971 | nuclear receptor subfamily 1, group H, member 4 | INFERRED, Score=800, UMLKSK CUI: C0008370 | | Human | CLDN1 | 9076 | claudin 1 | | | Human | NR1I2 | 8856 | nuclear receptor subfamily 1, group I, member 2 | INFERRED, Score=800, UMLKSK CUI: C0008370 | | Human | SUCLA2 | 8803 | succinate-CoA ligase, ADP-forming, beta subunit | | | Human | TNFRSF10B | 8795 | tumor necrosis factor receptor superfamily, member 10b | cholestasis increased both liver TRAIL-R2/DR5 mRNA and protein expression (>10-fold) | | Human | ABCC3 | 8714 | ATP-binding cassette, sub-family C (CFTR/MRP), member 3 | possible role in the removal of bile acids from the liver in cholestasis tissue distribution and induction in normal human tissues and in cholestasis | | Human | ABCB11 | 8647 | ATP-binding cassette, sub-family B (MDR/TAP), member 11 | Title:Association of single nucleotide polymorphisms of the bile salt export pump gene with intrahepatic cholestasis of pregnancy.|Association:Y|Conclusion:The use of two intragenic SNPs in both single locus and haplotype analyses of association suggests that the BSEP gene is a susceptibility gene in intrahepatic cholestasis of pregnancy. responsible for a subgroup of infants and children with progressive familial cholestasis (OFIC-2) The gallstone trait is not allelic to progressive familial cholestasis at the ABCB11 locus role for the ABCB11 1331T>C polymorphism as a susceptibility factor for the development of estrogen-induced cholestasis Intracanalicular cholestasis shown on biopsy Title:Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy|Association:Not Found|Conclusion:Our data further support an involvement of MDR3 genetic variation in the pathogenesis of ICP, whereas analysis of BSEP sequence variation indicates that this gene is probably less important for the development of pregnancy-associated cholestasis. | | Human | UQCRB | 7381 | ubiquinol-cytochrome c reductase binding protein | | | Human | TK2 | 7084 | thymidine kinase 2, mitochondrial | | | Human | TGFB1 | 7040 | transforming growth factor, beta 1 | INFERRED, Score=800, UMLKSK CUI: C0008370 | | Human | SHBG | 6462 | sex hormone-binding globulin | INFERRED, Score=800, UMLKSK CUI: C0008370 | | Human | SC5DL | 6309 | | INFERRED, Score=800, UMLKSK CUI: C0008370 | | Human | ABCB4 | 5244 | ATP-binding cassette, sub-family B (MDR/TAP), member 4 | Title:Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy|Association:Not Found|Conclusion:Our data further support an involvement of MDR3 genetic variation in the pathogenesis of ICP, whereas analysis of BSEP sequence variation indicates that this gene is probably less important for the development of pregnancy-associated cholestasis. Heterozygous ABCB4 mutations were detected in 34% of adults with unexplained cholestasis, for the most part without biliary symptoms, and could result in significant liver fibrosis present data indicate that polymorphism of the estrogen receptor alpha gene and multidrug resistance 3 gene mutation are unlikely to play any significant role in obstetric cholestasis in affected Finnish women MDR3 genetic variation is associated with pregnancy-associated cholestasis present data indicate that polymorphism of the estrogen receptor alpha and multidrug resistance 3 genes 1712delT mutation are unlikely to play any significant role in obstetric cholestasis in affected Finnish women Title:Multidrug resistance 3 gene mutation 1712delT and estrogen receptor alpha gene polymorphisms in Finnish women with obstetric cholestasis.|Association:Not Found|Conclusion:The present data indicate that polymorphism of the ERalpha gene and MDR3 gene 1712delT mutation are unlikely to play any significant role in obstetric cholestasis in affected Finnish women. Further work to identify explanatory factors is of particular interest. Title:Multidrug resistance 3 gene mutation 1712delT and estrogen receptor alpha gene polymorphisms in Finnish women with obstetric cholestasis.|Association:Not Found|Conclusion:The present data indicate that polymorphism of the ERalpha and MDR3 genes 1712delT mutation are unlikely to play any significant role in obstetric cholestasis in affected Finnish women. Further work to identify explanatory factors is of particular interest. | | Human | ATP8B1 | 5205 | ATPase, aminophospholipid transporter, class I, type 8B, member 1 | Disease-free intervals can last weeks to years during which there is no clinical or biochemical evidence of cholestasis Title:A missense mutation in FIC1 is associated with greenland familial cholestasis.|Association:Y|Conclusion:Not Found Intracanalicular cholestasis shown on biopsy Title:ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy.|Association:Y|Conclusion:We were able to demonstrate ATP8B1 mutations in ICP. MRS studies suggest that susceptibility to ICP is associated with a relative rise in biliary phospholipid. These data also suggest that MRS may be used for non-invasive assessment of the liver and biliary constituents in cholestasis. | | Human | NOTCH2 | 4853 | notch 2 | INFERRED, Score=800, UMLKSK CUI: C0008370 | | Human | NOS2 | 4843 | nitric oxide synthase 2, inducible | INFERRED, Score=800, UMLKSK CUI: C0008370 | | Human | MPV17 | 4358 | MpV17 mitochondrial inner membrane protein | |
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