ABCB11 Antibody

1. We concluded that Egyptian patients having chronic hepatitis C genotype 4 with CC genotype of ABCB11 SNP 1331T>C and high plasma bile acid levels at cutoff value of 75.5 mumol/L were associated with advanced hepatic fibrosis. PMID: 29755014
2. The overrepresentation of mutated variants of the 1331T > C ABCB11 polymorphism in the ICP group suggests its contribution to the etiology of the intrahepatic cholestasis of pregnancy. Analysis of genotypes' co-existence pointed to the possibility of the mutated variants of polymorphism 1954A > G ABCB4 and 1331T > C ABCB11 having a summation effect on the development ofintrahepatic cholestasis of pregnancy PMID: 30091450
3. These data demonstrated that c.386G>A (p.C129Y) in ABCB11 was a causative mutation that correlated with the phenotype of patients with PFIC2, the impairment of biliary excretion into bile canaliculi, and the absence of canalicular BSEP expression in liver histological assessments. PMID: 29507376
4. FIC1, BSEP, and MDR3 represent hepatobiliary transport proteins essential for bile formation. PMID: 28733223
5. This is the first report on a diagnostic test for simultaneous genotyping of IFNL3, ABCB11, and RNF7 in Chronic hepatitis C (CHC) patients. Reliable and inexpensive, the assay should provide useful information for the clinical management of CHC, like identification of patients at risk of rapid disease progression or with high chances of response to classic therapy. PMID: 28860020
6. Residual function of BSEP as well as substrate specificity influence the therapeutic effectiveness of partial external biliary diversion in progressive familial intrahepatic cholestasis type 2. PMID: 28839429
7. Study suggested that the CC genotype of rs2287616 variant of ABCB11 gene might contribute to anti-tuberculosis drug-induced cholestatic liver injury in Chinese patients. PMID: 27293027
8. Case Report: compound heterozygotes for two missense mutations of the ABCB11 with a mild form of progressive familial intrahepatic cholestasis type 2. PMID: 28425419
9. Patients with a confirmed ABCB11 or tight junction protein 2 gene mutation (n = 7) had a minimally detectable THBA proportion (0.23-2.99% of total BAs). Three patients with an ATP8B1 mutation had an elevated THBA proportion (7.51-37.26%). PMID: 28073941
10. By these complementary approaches, a set of ten novel BSEP interaction partners was identified. With the exception of radixin, all other interaction partners were integral or membrane-associated proteins including proteins of the early secretory pathway and the bile acyl-CoA synthetase, the second to last, ER-associated enzyme of bile salt synthesis PMID: 27472061
11. Report ABAB11 missense mutations in Korean infants with progressive familial intrahepatic cholestasis. PMID: 27239116
12. Among the Han individuals aged over 40 years in Hunan, China, genotype CC or CT of BSEP gene SNP rs2287622 may correlate with higher risk of chronic hepatitis C in comparison with genotype TT. PMID: 28292275
13. Case Reports: late onset progressive familial intrahepatic cholestasis 2 secondary to novel ABCB11 mutations. PMID: 27493120
14. Negative immunoreaction of BSEP was found in the majority of the progressive familial intrahepatic cholestasis (PFIC) group. Nonetheless, the negative immunoreaction was demonstrated in a considerable number of the non-PFIC group.BSEP immunoreaction was negative in the majority (82.4%) of PFIC2 but in none of the two patients with PFIC1. PMID: 26845599
15. The results revealed that functional impairment of BSEP predisposes the cells to altered BA disposition and is a susceptive factor to drug-induced cholestatic injury. PMID: 26910619
16. Results identified six novel mutations (PKHD1: p.Thr777Met, p.Tyr2260Cys; ABCB11: p.Val1112Phe, c.611+1G > A, p.Gly628Trpfs*3 and NPC1: p.Glu391Lys) for the diagnostic of inherited infantile cholestatic disorders. PMID: 25771912
17. Report highly specific expression of BSEP and MDR3 in hepatocellular carcinoma. PMID: 26735860
18. GGT levels in patients with ATP8B1 or ABCB11 deficiency varied with age. The peak GGT value was <70U/L in the 2nd~6th month of life, <60U/L in the 7th~12th month and <50U/L beyond one year PMID: 27050426
19. methods that can be used to assess and quantify BSEP inhibition, and key gaps in our current understanding of the relationship between this process and DILI, are discussed PMID: 25104267
20. Liver nuclear receptors, FXR and SHP, and bile acid transporters, NTCP and BSEP, are associated with the progression of NAFLD. PMID: 26019035
21. ABCB11 444A had slightly reduced transport activity. PMID: 25713208
22. Similar molecular features between MRP4 and BSEP inhibitors may partially explain why various drugs have affinity for both transporters. PMID: 25735837
23. In malignant tumours in the liver, BSEP marking was 100% specific and 90% sensitive for hepatocellular carcinoma. PMID: 25378077
24. The aim of this study was the evaluation of some single nucleotide polymorphisms of genes (ABCB1, SLC28A2/3, SLC29A1) involved in telaprevir (TLV) and ribavirin transport and their correlation with plasma TLV drug exposure at 1 month of therapy. PMID: 25661339
25. Aberrant splicing of ABCB11 in the liver of progressive familial intrahepatic cholestasis type 2 patients. PMID: 25085279
26. Variants of ABCB11 were not associated with bosentan-induced liver injury. PMID: 25332267
27. analysis of mutations in ABCB11 gene in children with intrahepatic cholestasis PMID: 24969679
28. BSEP rs473351 was closely associated with the susceptibility of primary biliary cirrhosis and resistance to ursodeoxycholic acid treatment. PMID: 25392597
29. expression in hepatocytes repressed by estradiol PMID: 24729004
30. Our data suggest that in addition to functional inhibition, repression of bile salt export pump expression may play an important role in drug-induced cholestatic liver toxicity. PMID: 24335466
31. Patients carrying the C allele in the ABCB11 1331T>C polymorphism are at increased risk of developing hepatocellular type of DILI, when taking drugs containing a carbocyclic system with aromatic rings PMID: 23701583
32. Cholesterol increases the transport rates of ABCB11 and ABCC2, but with the latter, may also modify the binding site as for E17betaG PMID: 24711118
33. The novel missense mutation G374S impairs transport function without disabling membrane localization of BSEP, causing a transitional phenotype between benign recurrent and progressive familial intrahepatic cholestasis . PMID: 23758865
34. FXR regulates BSEP in an isoform-dependent and species-specific manner PMID: 24002920
35. The introduction of a Y1311A mutation into BSEP. PMID: 24378332
36. Six single nucleotide polymorphisms in ABCB11 that showed significant evidence of association were identified. PMID: 24366234
37. Case Report: suggest contribution of ATP8B1 mutations to drug-induced liver injury from anabolic androgenic steroids marketed as dietary supplements. PMID: 23750872
38. This review describes the molecular characteristics and physiological roles of BSEP, the trafficking and sorting machinery of BSEP, and the mechanisms responsible for disturbance of BSEP, which causes intrahepatic cholestasis. [review] PMID: 23876151
39. Approximately 3% of TNC cases can be attributed to ABCB11 mutations. PMID: 23279303
40. Inhibition of Bsep mRNA expression is regulated by loss of T cells but not B cells, in immune-mediated liver disease. PMID: 23929842
41. Genotyping of Italian women revealed 3 novel variants of ABCB11 (p.V284D, p.Q558H, p.P731S) associated with intrahepatic cholestasis of pregnancy. PMID: 23022423
42. Troglitazone specifically inhibits human MRP2 and BSEP in PXB mouse chimeric liver. PMID: 22673116
43. The data confirmed that homozygous presence of the major [C] allele of ABCB11 c.1331 T>C is a genetic susceptibility factor for hepatitis C infection, but not for liver fibrosis. PMID: 22681771
44. constitutive internalization of BSEP is clathrin-mediated and dependent on the tyrosine-based endocytic motif at the C-terminal end of BSEP. PMID: 22161577
45. Patients undergoing partial hepatectomy with low post-operative bilirubin had lower levels of NTCP, MDR3 and BSEP mRNA compared to those with high bilirubin after Pringle manoeuvre. PMID: 22098322
46. The higher allelic frequency of ABCB11 1331C in HCV-patients compared to controls may indirectly link increased bile acids to hepatitis C virus chronicity. PMID: 20723035
47. Here we report the first case of a patient with combined hereditary spherocytosis and compound heterozygous ABCB11 gene variants predisposing to intrahepatic cholestasis PMID: 21811948
48. A spectrum of BSEP-dependent effects on the course of liver diseases, and two mutations that differentially affect total bile acid output and the biliary bile acid profile, are described. PMID: 21691112
49. Sequencing of the ABCB11 gene revealed two new ABCB11 mutations responsible for type 2 benign recurrent intrahepatic cholestasis in a French-Canadian family. PMID: 21766090
50. Mutations ending ABCB11 transcription appear linked, through hepatocellular necrosis and fibrosis, to worse outcome PMID: 21490445

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HGNC: 42

OMIM: 601847

KEGG: hsa:8647

STRING: 9606.ENSP00000263817

UniGene: Hs.158316