ライフサイエンスコーパス: Liddle

1 Liddle syndrome is an autosomal dominant form of hypokal

2 Liddle syndrome is monogenic hypertension caused by muta

3 Liddle's cells had a 4.5-fold larger inward sodium condu

4 Liddle's disease is an autosomal dominant form of human

5 Liddle's syndrome is a rare inherited form of hypertensi

6 Liddle's syndrome is caused by an activating mutation in

7 Liddle's syndrome of hypertension and pseudoaldosteronis

8 Liddle's syndrome, an inherited form of hypertension, is

9 Liddle's syndrome, an inherited form of hypertension, is

10 Liddle's syndrome-associated mutations that prevent the

11 Moreover, expression of a Liddle's syndrome-type beta-mENaC mutant (Y618A) greatly

12 ldosteronism, distal renal tubular acidosis, Liddle's disease, apparent mineralocorticoid excess synd

13 ive hypertension and elevated ENaC activity (Liddle syndrome).

14 sorders, pseudohypoaldosteronism type 1, and Liddle syndrome.

15 lucocorticoid-suppressible aldosteronism and Liddle's syndrome, each inherited as an autosomal-domina

16 ical conditions, such as cystic fibrosis and Liddle syndrome, result from water-electrolyte imbalance

17 iated with diseases like cystic fibrosis and Liddle's syndrome are irreversibly stimulated by membran

18 (systemic pseudohypoaldosteronism type I and Liddle syndrome).

19 icantly (25%; p < 0.001) for both normal and Liddle's cells after treatment with 40 microM 8-CPT-cAMP

20 C bound to the plasma membrane of normal and Liddle's lymphocytes.

21 These results strongly suggest that PHA1 and Liddle's syndrome are allelic variants caused by mutatio

22 r excess, termed pseudohypoaldosteronism and Liddle's syndrome, respectively.

23 ng cystic fibrosis, Angelman's syndrome, and Liddle syndrome), in immune surveillance/viral pathogene

24 The molecular mechanisms underlying both Liddle syndrome and obesity-related hypertension are dif

25 Ubiquitination was disrupted by Liddle syndrome-associated mutations in ENaC or mutation

26 Mutations in this PPXY domain cause Liddle's syndrome, an autosomal dominant, salt-sensitive

27 Defects in this regulation cause Liddle syndrome, an inherited form of hypertension.

28 Defects in this regulation cause Liddle syndrome, an inherited form of hypertension.

29 uence is the target for mutations that cause Liddle's syndrome, suggesting that cAMP-mediated translo

30 the extracellular domain of alphaENaC causes Liddle syndrome by increasing intrinsic channel activity

31 A defect in ubiquitination causes Liddle syndrome, an inherited form of hypertension.

32 Moreover, a defect in ubiquitination causes Liddle syndrome, an inherited form of hypertension.

33 units increase renal Na+ absorption, causing Liddle's syndrome, an inherited form of hypertension.

34 -life of the activity of channels containing Liddle's mutations is markedly prolonged compared with w

35 acteristics, radiologic imaging, and a 6-day Liddle test with determination of urinary free cortisol

36 ma membrane or to the hypertensive disorder, Liddle's syndrome, in which channel residency time at th

37 ion of ENaC by Nedd4-2 may not fully explain Liddle syndrome and that Nedd4-2 modulates NCC more stro

38 e ENaC and that the mutation responsible for Liddle's disease induces excessive channel expression.

39 nts could provide a simple clinical test for Liddle's syndrome.

40 e's cells, and 27.7 +/- 5.4% in patches from Liddle's lymphocytes.

41 cocorticoid-suppressible hyperaldosteronism, Liddle's syndrome, and apparent mineralocorticoid excess

42 ifs, responsible for inherited hypertension (Liddle syndrome), decreased Hrs binding to ENaC.

43 , causing an inherited form of hypertension (Liddle's syndrome).

44 s, including a genetic form of hypertension (Liddle's syndrome).

45 In Liddle's syndrome, a rare inherited form of hypertension

46 tion of increased sodium channel activity in Liddle's syndrome.

47 ENaC results in refractory hypertension (in Liddle syndrome) and impaired mucociliary clearance (in

48 macroscopic Na+ reabsorption that occurs in Liddle's disease is at least in part due to an increase

49 a channel structure resembling that seen in Liddle's disease.

50 r of channels in the plasma membrane seen in Liddle's syndrome.

51 This idea is based on the finding that, in Liddle syndrome, a mutation of the beta- and/or gamma-su

52 lso contribute to excessive Na+ transport in Liddle's syndrome.

53 ied in rare forms of hypertension, including Liddle syndrome and glucocorticoid-remediable aldosteron

54 (open) was 4.2 +/- 3.9% for patches from non-Liddle's cells, and 27.7 +/- 5.4% in patches from Liddle

55 ivity, consistent with one of the effects of Liddle's mutations being the loss of endocytosis of thes

56 In contrast, co-expression of Liddle's mutations and dynamin mutants leads to no furth

57 ction may play a role in the pathogenesis of Liddle's syndrome and other forms of hypertension.

58 M2 had no effect on Liddle ENaCs, which have decreased affinity for Nedd4-2.

59 s) in three brothers with genetically proven Liddle's syndrome, their unaffected sister, and 40 normo

60 Here, we found that Liddle's syndrome mutations have two distinct effects of

61 The Liddle test, however, distinguished patients with this d

62 monolayers overexpressing gammahENaC and the Liddle's mutant.

63 ate that the C-terminal peptides blocked the Liddle's truncation mutant (alphabeta(T)gamma(T)) expres

64 rease in glucocorticoid excretion during the Liddle test.

65 lculated insertion rates were slower for the Liddle's mutant than for wild type despite increasing ra

66 ion of 10(-)4 M amiloride was greater in the Liddle's patients, 14.0+/-2.1 mV, than in controls (7.9+

67 monolayers expressing wild type but not the Liddle's mutation.

68 urinary free cortisol levels on day 6 of the Liddle test identified 9 of 13 patients (69.2% [95% CI,

69 ol excretion of 100% or more on day 6 of the Liddle test identified only patients with primary pigmen

70 wild-type alpha-ENaC subunit, reproduce the Liddle's phenotype at the single channel level, i.e., an

71 greater surface binding of the antibodies to Liddle's lymphocytes compared with normal lymphocytes.

72 (wt) rENaC (alphabetagamma-rENaC), truncated Liddle's mutants (alphabeta(T)gamma-, alphabetagamma(T)-

73 urface but also provide a mechanism by which Liddle's syndrome mutations alter ENaC activity.

74 tes derived from an individual affected with Liddle's syndrome, an autosomal dominant form of human h

75 A mutation associated with Liddle's syndrome (betaR566X) abolished the effect of Ne

76 eta-subunit mutation, R564X, associated with Liddle's syndrome, open probability in both high- and lo

77 Here, we describe a family with Liddle syndrome due to a mutation in alphaENaC.

78 from normal individuals and individuals with Liddle's disease.