ライフサイエンスコーパス: PFIC

1 PFIC caused by a lesion in this region, including ByD, c

2 PFIC II is a subtype of progressive familial intrahepati

3 PFIC II mutations are known to lead to a deficiency of B

4 ve familial intrahepatic cholestasis type 3 (PFIC-3).

5 MVID patients are at risk of developing a PFIC-like liver disease that may hamper outcome after IT

6 Eleven mutations, mostly associated with a PFIC phenotype, resulted in aberrant splicing and a comp

7 mposition and the clinical course of AGS and PFIC patients were examined before and after PEBD.

8 AGS patients, and PFIC patients with familial intrahepatic cholestasis 1 (

9 ogressive familial intrahepatic cholestases (PFIC) are a group of inherited disorders with severe cho

10 scribed in progressive familial cholestasis (PFIC), and we found that similar to individuals with WD,

11 ogressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome (AGS).

12 ogressive familial intrahepatic cholestasis (PFIC) is characterized by pruritus, intrahepatic cholest

13 ogressive familial intrahepatic cholestasis (PFIC) that is associated with mutations in the ABCB11 ge

14 ogressive familial intrahepatic cholestasis (PFIC) with raised serum gamma-glutamyl transpeptidase (g

15 ogressive familial intrahepatic cholestasis (PFIC)--or "neonatal hepatitis" suggesting PFIC--that was

16 ogressive familial intrahepatic cholestasis (PFIC).

17 ogressive familial intrahepatic cholestasis (PFIC).

18 ogressive familial intrahepatic cholestasis [PFIC]) represent one clinicopathological entity.

19 In conclusion, PFIC associated with BSEP deficiency represents a previo

20 his region, including ByD, can be designated PFIC-1.

21 oscopy and TEM of liver may help distinguish PFIC-1 from other forms of ByS.

22 BD supports PEBD as an effective therapy for PFIC.

23 children with low gamma-glutamyltransferase PFIC before and after PEBD.

24 e familial intrahepatic cholestasis type II (PFIC II).

25 f human BSEP were identified as the cause of PFIC 2.

26 specimens showed characteristic features of PFIC, including portal fibrosis, chronic inflammation, c

27 urs in women with no known family history of PFIC and the genetic basis of this disorder is unknown.

28 ent with ICP with no known family history of PFIC, analysed by functional studies, is a novel finding

29 amma-GT, but with no known family history of PFIC.

30 tudies highlight the heterogeneous nature of PFIC II mutations and illustrate the significance of the

31 11 cases of pediatric HCC in the setting of PFIC or "neonatal hepatitis" suggesting PFIC.

32 aluate these mechanisms, we introduced seven PFIC II-associated missense mutations into rat Bsep and

33 we have characterized the impact of several PFIC II mutations on the processing and stability of rat

34 sibling, with neonatal hepatitis suggesting PFIC, of a tenth from whom liver was not available) had

35 s (PFIC)--or "neonatal hepatitis" suggesting PFIC--that was associated with HCC in young children.

36 g of PFIC or "neonatal hepatitis" suggesting PFIC.

37 ave higher biliary lipid concentrations than PFIC patients and PEBD also increases biliary phospholip

38 esterol and phospholipid concentrations than PFIC patients.

39 IC1) genotype, responded better to PEBD than PFIC patients with bile salt export protein (BSEP) genot

40 f BSEP in human hepatocytes, suggesting that PFIC II mutants are unstable and degraded in the cell.

41 The PFIC II mutants appear to be more heavily ubiquitinated

42 significantly in 1 patient and was above the PFIC range in a second patient.

43 ovides the major degradation pathway for the PFIC II mutants, whereas the lysosome also contributes t

44 ble for their disorder(s) did not lie in the PFIC-1 candidate region.

45 Except for R1153C, the PFIC II mutants are degraded with varying half-lives.

46 These data together demonstrate that the PFIC II mutants except R1153C and DeltaGly are degraded

47 ays an important role in expression of these PFIC II mutants.

48 le also differed: In the Amish children with PFIC-1 and in one ByS family, the proportional concentra

49 tissue differed between Amish children with PFIC-1, who had coarsely granular bile and at presentati