ライフサイエンスコーパス: pseudohypoaldosteronism

1 Human subjects with pseudohypoaldosteronism-1 because of loss-of-function mu

2 ace damage that phenocopied aspects of human pseudohypoaldosteronism-1 MG disease and was sex depende

3 neralocorticoid deficiency or excess, termed pseudohypoaldosteronism and Liddle's syndrome, respectiv

4 ation in the CD and demonstrated features of pseudohypoaldosteronism, including hyperkalemia, hyperal

5 Secondary hypoaldosteronism (pseudohypoaldosteronism) occurs as a consequence of muta

6 Pseudohypoaldosteronism (PHA) types I and II are curious

7 Autosomal dominant pseudohypoaldosteronism type 1 (adPHA1) is a rare condit

8 Systemic pseudohypoaldosteronism type 1 (PHA-1) is a severe salt-

9 epithelial Na(+) channel (ENaC) containing a pseudohypoaldosteronism type 1 (PHA-1)-causing missense

10 Pseudohypoaldosteronism type 1 (PHA1, OMIM 264350) is a

11 Pseudohypoaldosteronism type 1 (PHA1, OMIM 264350) is an

12 cient mice is similar to that of humans with pseudohypoaldosteronism type 1 and may provide a useful

13 Renal pseudohypoaldosteronism type 1 is a rare autosomal-domin

14 ia and hyponatremia from autosomal recessive pseudohypoaldosteronism type 1 requiring aggressive ther

15 urface epithelium, leading to colon-specific pseudohypoaldosteronism type 1 with mineralocorticoid re

16 on is associated with respiratory disorders, pseudohypoaldosteronism type 1, and Liddle syndrome.

17 o adverse cardiovascular outcome occurred in pseudohypoaldosteronism type 1, but rather an improved d

18 n of a ubiquitous long WNK1 transcript cause pseudohypoaldosteronism type 2 (PHA II), characterized b

19 ns of 2 family members, WNK1 and WNK4, cause pseudohypoaldosteronism type 2 (PHA2), an autosomal-domi

20 ertension and hyperkalemia syndrome known as pseudohypoaldosteronism type 2 (PHA2).

21 ension and hyperkalemia (Gordon syndrome, or pseudohypoaldosteronism type 2).

22 of WNK1 that increase WNK1 transcript cause pseudohypoaldosteronism type 2, an autosomal-dominant di

23 Pseudohypoaldosteronism type I (PHA1) is characterized b

24 notypes dominated by renal disease (systemic pseudohypoaldosteronism type I and Liddle syndrome).

25 ubunits can lead to the salt wasting disease pseudohypoaldosteronism type I, associated with decrease

26 tion in alleviating human disease, including pseudohypoaldosteronism type I, hypotension, and neonata

27 ating that leads to the salt-wasting disease pseudohypoaldosteronism type I, was rescued by S3969.

28 A rare Mendelian syndrome--pseudohypoaldosteronism type II (PHA-II)--features hyper

29 Pseudohypoaldosteronism type II (PHAII) is a rare Mendel

30 Pseudohypoaldosteronism type II (PHAII) is an autosomal

31 work has shown that mutations in WNK4 cause pseudohypoaldosteronism type II (PHAII), a disease featu

32 Mutations in WNK4 cause pseudohypoaldosteronism type II (PHAII), a disease featu

33 Mutations in the kinase WNK4 cause pseudohypoaldosteronism type II (PHAII), a disease featu

34 lysine (K) at a key catalytic residue] cause pseudohypoaldosteronism type II (PHAII), a Mendelian dis

35 Pseudohypoaldosteronism type II (PHAII), a rare Mendelia

36 s in the gene encoding the kinase WNK4 cause pseudohypoaldosteronism type II (PHAII), a syndrome feat

37 e kinases, have recently been shown to cause pseudohypoaldosteronism type II (PHAII), an autosomal do

38 Pseudohypoaldosteronism type II (PHAII, also known as fa

39 butes to the pathogenesis of hypertension in pseudohypoaldosteronism type II caused by WNK1 and, poss

40 When Wnk4(D561A/+) mice, a model of pseudohypoaldosteronism type II expressing an activated

41 Pseudohypoaldosteronism type II is a salt-sensitive form

42 xcessive sodium retention, and hypertension (pseudohypoaldosteronism type II or Gordon's syndrome).

43 ene result in its overexpression and lead to pseudohypoaldosteronism type II, a disease with salt-sen

44 e the expression of WNK1 in humans and cause pseudohypoaldosteronism type II, a form of hypertension.

45 ine kinase WNK4 [with no lysine (K) 4] cause pseudohypoaldosteronism type II, a Mendelian disease fea

46 Here, we identify two genes causing pseudohypoaldosteronism type II, a Mendelian trait featu

47 o its overexpression and are responsible for pseudohypoaldosteronism type II, an autosomal dominant d

48 The discovery of four genes responsible for pseudohypoaldosteronism type II, or familial hyperkalemi

49 g WNK4, cause hypertension and hyperkalemia (pseudohypoaldosteronism type II, PHAII) by altering rena

50 und in a group of hypertensive patients with pseudohypoaldosteronism type II.

51 linked to a hereditary form of hypertension, pseudohypoaldosteronism type II.

52 on at this residue corrects the phenotype of pseudohypoaldosteronism type II.

53 mately 2.0% per minute) reported in systemic pseudohypoaldosteronism, which has loss-of-function muta