ライフサイエンスコーパス: ABCB11

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

2 tions in hepatocellular transporters (ABCB4, ABCB11).

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

4 YP3A11 as well as canalicular bile salt pump ABCB11.

5 orrelates well with demonstrable mutation in ABCB11.

6 ariant burden was significantly increased in ABCB11.

7 The expression of ABCB11-3'-UTR luciferase construct in Huh-7 cells was ma

8 e that miR-199a-5p is involved in regulating ABCB11/Abcb11 expression, is aberrantly upregulated in o

9 miR-199a-5p contributes to the depletion of ABCB11/Abcb11 in cholestasis in mice.

10 arget the 3'-untranslated region (3'-UTR) of ABCB11/Abcb11 mRNA.

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

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

13 as enhancer I, resides in the 25th intron of Abcb11 and binds multiple islet-enriched transcription f

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

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

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

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

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

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

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

21 lear receptor subfamily 5 group A member 2), Abcb11 (ATP binding cassette subfamily B member 11), Abc

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

23 Five genes (ABCB4, ABCB11, ATP8B1, NR1H4, TJP2) were interrogated by exome

24 ABCB4 (multidrug resistance 3) rs2302387 and ABCB11 [bile salt export pump (BSEP)] rs4668115 reduce t

25 ATP-binding cassette subfamily B member 11 (Abcb11)/bile salt export pump, ATP-binding cassette subf

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

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

28 r expression levels of bile acid transporter Abcb11/Bsep and detoxification enzyme Cyp2b10.

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

30 subfamily B member 11/bile salt export pump (ABCB11/BSEP).

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

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

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

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

35 henodeoxycholic acid-induced cytotoxicity in ABCB11 (-/-) cells and increased the overall intracellul

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

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

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

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

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

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

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

43 ar cholestasis due to biallelic mutations in ABCB11 encoding the canalicular bile salt export pump (B

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

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

46 lar toxicity, particularly in cells with low ABCB11 function.

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

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

49 sociated with a heterozygous mutation in the ABCB11 gene.

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

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

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

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

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

55 ABCB11 is a canalicular transport protein that controls

56 ATP-binding cassette, subfamily B member 11 (ABCB11) is an efflux transporter for bile acids on the l

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

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

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

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

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

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

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

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

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

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

67 The common ABCB11 missense mutation encoding D482G enhanced aberran

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

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

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

71 eticholic acid (OCA) significantly increased Abcb11 mRNA and protein and decreased miR-199a-5p expres

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

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

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

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

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

77 wed that GW4064 increased FXR binding to the Abcb11 promoter.

78 , and the apical bile salt export pump (gene ABCB11) pumps the bile salts out of the hepatocyte into

79 of multiple bile transporters (e.g., ABCB4, ABCB11, sodium/taurocholate cotransporting polypeptide,

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

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

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

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

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

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

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

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