ライフサイエンスコーパス: Bartter's syndrome

1 dulthood that provides a good model for ROMK Bartter's syndrome.

2 utations in Kir1.1 account for some types of Bartter's syndrome.

3 enotype of Gitelman's syndrome, a variant of Bartter's syndrome.

4 asting and polyuria reminiscent of antenatal Bartter's syndrome.

5 mia, thereby recapitulating the phenotype of Bartter's syndrome.

6 in our analysis who had transient antenatal Bartter's syndrome.

7 and a severe but transient form of antenatal Bartter's syndrome.

8 Mutations in ClC-Kb and barttin, lead to Bartter's syndrome.

9 ich have been associated with Andersen's and Bartter's syndromes.

10 greater understanding of the pathogenesis of Bartter's syndrome, an inherited nephropathy that result

11 a range of diseases such as cystic fibrosis, Bartter's syndrome and epilepsy.

12 dings establish the genetic heterogeneity of Bartter's syndrome, and demonstrate the physiologic role

13 more severe than in known types of antenatal Bartter's syndrome, as reflected by an earlier onset of

14 phenotypes observed in patients with classic Bartter's syndrome (BS) remain unsatisfactorily explaine

15 oride ClC-Kb (hClC-Kb) channel cause classic Bartter's syndrome (BS).

16 that bears strong similarities to antenatal Bartter's syndrome but also has several distinct feature

17 g the function of pancreatic beta cells, and Bartter's syndrome, characterized by hypokalemic alkalos

18 se malabsorption, congenital hypothyroidism, Bartter's syndrome, epilepsy, depression, autism and obs

19 emia and milder clinical manifestations, and Bartter's syndrome, featuring hypercalciuria and early p

20 a mediator of renal salt reabsorption, cause Bartter's syndrome, featuring salt wasting, hypokalaemic

21 e is one of several that when mutated causes Bartter's syndrome in humans, a syndrome characterized b

22 ey define a distinct subset of patients with Bartter's syndrome in whom nephrocalcinosis is absent.

23 ull mutations in the ROMK gene cause type II Bartter's syndrome, in which abnormalities of electrolyt

24 Bartter's syndrome involves an overlapping set of closel

25 Bartter's syndrome is an autosomal recessive disease cha

26 The antenatal variant of Bartter's syndrome is an autosomal recessive kidney dise

27 pically indistinguishable cohorts, antenatal Bartter's syndrome is genetically heterogeneous.

28 alemia that develop in individuals with ROMK Bartter's syndrome is not apparent given the proposed lo

29 e, suggesting that the majority of antenatal Bartter's syndrome patients in Costa Rica share a single

30 findings demonstrate the molecular basis of Bartter's syndrome, provide the basis for molecular clas

31 We demonstrate linkage of Bartter's syndrome to the renal Na-K-2Cl cotransporter g

32 olyuria and hypotension in patients with the Bartter's syndrome type 3 due to loss-of-function of the

33 nderstand better the pathogenesis of type II Bartter's syndrome, we developed a mouse lacking ROMK an

34 ction mutations in the human ROMK gene cause Bartter's syndrome with renal Na(+) wasting, consistent