ライフサイエンスコーパス: renal cystic disease

1 -dose treatment did not significantly reduce renal cystic disease.

2 related patients with tuberous sclerosis and renal cystic disease.

3 as a promising strategy for the treatment of renal cystic diseases.

4 lucocorticoid metabolism result in recessive renal cystic disease, a developmental disorder of the ki

5 f Pkd1 during embryogenesis develop profound renal cystic disease and die from renal failure within 3

6 Pkd1(-/-) or Pkd2(-/-) mice develop rapid renal cystic disease and exhibit embryonic lethality; th

7 specific knockdown of ILK strikingly reduced renal cystic disease and fibrosis and extended the life

8 dicate that loss of Ift140 causes pronounced renal cystic disease and suggest that abnormalities in s

9 F(2) cpk/cpk pups expressed both the typical renal cystic disease and the DPM.

10 Renal cystic diseases are a leading cause of renal failu

11 lar mechanisms that link cilia function with renal cystic diseases are not well understood, and the m

12 y was undertaken to further characterize the renal cystic disease as quantitative trait in this F2 co

13 s accompanied by a marked aggravation of the renal cystic disease, as reflected by kidney weights, hi

14 simultaneous deletion of Gli2 attenuated the renal cystic disease associated with deletion of Thm1.

15 mor suppressor gene syndrome in which severe renal cystic disease can occur.

16 e (MKS) is a lethal disorder associated with renal cystic disease, encephalocele, ductal plate malfor

17 dies, marked variability was observed in the renal cystic disease expressed in F2 bpk/bpk homozygotes

18 like protein-3 (Tulp3) as a key regulator of renal cystic disease from a forward genetic screen in th

19 Children with severe renal cystic disease (> 10 cysts; n = 54) had greater pr

20 Recently, renal cystic diseases have been associated with dysfunct

21 between the major loci responsible for human renal cystic disease in a common PKD pathway.

22 pleiotropic phenotype with hydrocephalus and renal cystic disease in both humans and rodent models.

23 tion between the severity of the DPM and the renal cystic disease in either F(2) cohort.

24 Renal cystic disease in homo- and heterozygotes of a Pkd

25 idney disease (ARPKD) is a common hereditary renal cystic disease in infants and children.

26 Mutation of the Cys1 gene underlies the renal cystic disease in the Cys1(cpk/cpk) (cpk) mouse th

27 The severity of renal cystic disease in the major form of autosomal domi

28 Significant renal cystic disease in tuberous sclerosis usually refle

29 uggesting a role for PKD1 in the etiology of renal cystic disease in tuberous sclerosis.

30 60 ng/ml, respectively) on mTOR activity and renal cystic disease in two Pkd1-mutant mouse models at

31 disease is one of the most common hereditary renal cystic diseases in children.

32 m67 mutants offer a new vertebrate model for renal cystic diseases, in which cilia morphology can be

33 Many renal cystic diseases, including autosomal dominant poly

34 The renal cystic disease is fully expressed in homozygotes a

35 ominant Xpl mutant, in which polydactyly and renal cystic disease occurs, maps to the homologous regi

36 It is concluded that the severity of the bpk renal cystic disease phenotype is modulated by multiple

37 In kat/kat mice, the renal cystic disease progresses more slowly but is morph

38 Mutations associated with renal cystic diseases reside in genes encoding proteins

39 on distal Chr 6, near D6Mit14, that affects renal cystic disease severity.

40 with this drug leads to amelioration of the renal cystic disease similar to genetic STAT6 inactivati

41 hat build and maintain the cilium also cause renal cystic disease through unknown pathways.

42 lial morphogenesis in 3D renal cultures link renal cystic disease to apical organization defects, whe

43 lia ift88 gene leads to delayed, adult-onset renal cystic disease, which provides a window of opportu