ライフサイエンスコーパス: ABCB11

1 tions in hepatocellular transporters (ABCB4, ABCB11).

2 cassette, subfamily B (MDR/TAP), member 11 (ABCB11).

3 ion of the canalicular BS export pump (BSEP; ABCB11).

4 YP3A11 as well as canalicular bile salt pump ABCB11.

5 orrelates well with demonstrable mutation in ABCB11.

6 , SLC47A1, SLCO1B1, SLCO1B3, SLCO2B1, ABCB1, ABCB11, ABCC2, ABCC3, ABCC4, ABCC6, and ABCG2 We showed

7 totally prevented E17G-induced alteration in Abcb11 and Abcc2 function and localization.

8 dy has expanded known mutations in ABCB4 and ABCB11 and identified roles in ICP for mutations in ATP8

9 usions, including recurrent fusion (2/88) of ABCB11 and LRP2.

10 c mice that overexpress Abcb11 in liver (TTR-Abcb11) and FVB/NJ mice (controls) were fed a high-chole

11 licular transporters, bile salt export pump (Abcb11) and multidrug resistance-associated protein 2 (A

12 ip efficiently reads SERPINA1, JAG1, ATP8B1, ABCB11, and ABCB4 with a high call rate and accuracy in

13 of the bile canalicular transporters Abcb4, Abcb11, and Abcc2.

14 cluster), LIPC, TRIB1, LOC100128354/MTNR1B, ABCB11, and LOC100129150 were further tested for their a

15 nts was performed in the transporters ABCB4, ABCB11, ATP8B1, ABCC2 and tight junction protein 2 (TJP2

16 n of hepatic expression of ABCG5, ABCG8, and ABCB11 biliary transporters.

17 ocytes, loss of LKB1 or AMPK impaired apical ABCB11 (Bsep) trafficking and bile canalicular formation

18 No mutation in ABCB11/BSEP or ATP8B1/FIC1 genes were identified.

19 No association was detectable between the ABCB11 c.1331 T>C genotype and increased liver stiffness

20 ABCB11 c.1331 T>C genotype was determined by allelic dis

21 mozygous presence of the major [C] allele of ABCB11 c.1331 T>C is a genetic susceptibility factor for

22 was to investigate a possible association of ABCB11 c.1331 T>C with hepatitis C virus (HCV) infection

23 The bile salt export pump (BSEP, ABCB11) couples ATP hydrolysis with transport of bile ac

24 In previous studies of Abcb11 deficiency in mice generated on a mixed genetic b

25 We reasoned that ABCB11 deficiency may cause unique changes in hepatic me

26 Maternal absence of Nr1i2 superimposed on Abcb11 deficiency strongly reduces maternal serum bile a

27 re we show that maternal cholestasis (due to Abcb11 deficiency) produces neonatal death among all off

28 Neonates of Abcb11-deficient mothers have elevated pulmonary bile ac

29 s type 2 (PFIC2) is a result of mutations in ABCB11 encoding bile salt export pump (BSEP), the canali

30 bile salt export pump (BSEP) and mutation in ABCB11, encoding BSEP, underlay progressive familial int

31 nd undetectable liver bile salt export pump (ABCB11) expression.

32 IC) that is associated with mutations in the ABCB11 gene encoding the bile salt export pump (BSEP).

33 deficiency of BSEP, which is encoded by the ABCB11 gene, causes severe progressive cholestatic liver

34 sociated with a heterozygous mutation in the ABCB11 gene.

35 TP-binding cassette, subfamily B, member 11 (ABCB11) gene encodes the bile salt export pump, which is

36 es involved in biliary transport (ATP8B1 and ABCB11), glucose, carbohydrate and lipid metabolism (FAD

37 Transgenic mice that overexpress Abcb11 in liver (TTR-Abcb11) and FVB/NJ mice (controls)

38 We investigated whether overexpression of Abcb11 in mice increases lipid absorption in the intesti

39 Hepatic overexpression of Abcb11 in mice promotes diet-induced obesity and hyperch

40 ABCB11 is a canalicular transport protein that controls

41 The bile salt excretory pump (BSEP, ABCb11) is critical for ATP-dependent transport of bile

42 ding the human bile salt export pump (BSEP), ABCB11, is mutated in several forms of intrahepatic chol

43 t this possibility, we first determined that Abcb11 knock-out (KO) C57BL/6J mice recapitulate human d

44 Before the onset of cholestasis, Abcb11 KO mice have altered hepatic lipid metabolism cou

45 rtantly, metabolomic analysis confirmed that Abcb11 KO mice have impaired mitochondrial fatty acid be

46 TTR-Abcb11 mice fed a high-cholesterol diet had greater incr

47 TTR-Abcb11 mice had a nearly 2-fold increase in intestinal c

48 In the TTR-Abcb11 mice, the sizes of plasma and total bile acid poo

49 of energy could increase weight gain in TTR-Abcb11 mice.

50 In humans, variations in expression of ABCB11 might confer genetic susceptibility to diet-induc

51 The common ABCB11 missense mutation encoding D482G enhanced aberran

52 ent in selected patients with PFIC2 owing to ABCB11 missense mutations affecting BSEP canalicular tar

53 ere we classified the majority (63) of known ABCB11 missense mutations and 21 single-nucleotide polym

54 s work is a comprehensive analysis of 80% of ABCB11 missense mutations and single-nucleotide polymorp

55 Four potential ABCB11 mutations - Glu297Gly (x3) and a donor splice sit

56 causing mutations in SERPINA1, JAG1, ATP8B1, ABCB11, or ABCB4.

57 al intrahepatic cholestasis type 1 [PFIC1]), ABCB11 (PFIC2), and ABCB4 (PFIC3).

58 y-dependent biliary secretion of bile acids (ABCB11), phospholipids (ABCB4), and nonbile acid organic

59 s) to determine whether they caused abnormal ABCB11 pre-messenger RNA splicing, abnormal processing o

60 r receptor class B, member 1) and bile acid (ABCB11) transporters were significantly induced in Cyp7a

61 The bile salt export pump (BSEP/ABCB11) transports bile salts from hepatocytes into bile

62 Mutational analysis of ABCB11 was performed in leukocyte DNA from available pat

63 children with BSEP deficiency, mutations in ABCB11 were demonstrated in all 5 parents in whom leukoc

64 Mutations in ABCB11 were demonstrated in all patients with BSEP defic

65 cterizes functional deficiencies in the gene ABCB11, which encodes the bile salt export pump (BSEP),

66 ave been associated with cholestasis, namely ABCB11, which encodes the bile salt export pump, and ABC

67 fasting glucose, though it is possible that ABCB11, which is expressed primarily in liver, may also