ライフサイエンスコーパス: cystic disease

1 d found no evidence of systemic infective or cystic disease.

2 treatment did not significantly reduce renal cystic disease.

3 x1Cre(+) allele causes a late onset of focal cystic disease.

4 ney and that acute kidney injury exacerbates cystic disease.

5 e cell cycle and proliferation, resulting in cystic disease.

6 is associated with significantly more severe cystic disease.

7 patients may be because of extensive hepatic cystic disease.

8 d patients with tuberous sclerosis and renal cystic disease.

9 ate of PAH secretion despite the presence of cystic disease.

10 romising strategy for the treatment of renal cystic diseases.

11 d progression in models orthologous to human cystic diseases.

12 have been implicated in the pathogenesis of cystic diseases.

13 out contiguous deletions had relatively mild cystic disease, 3 of whom had gross rearrangements of TS

14 rticoid metabolism result in recessive renal cystic disease, a developmental disorder of the kidney.

15 Mosaicism and mild cystic disease also were demonstrated in parents of 3 of

16 rare, some patients develop massive hepatic cystic disease and become clinically symptomatic.

17 the administration of GME did not lessen the cystic disease and did not reverse the effects of BSO.

18 during embryogenesis develop profound renal cystic disease and die from renal failure within 3 weeks

19 1(-/-) or Pkd2(-/-) mice develop rapid renal cystic disease and exhibit embryonic lethality; this sup

20 ic knockdown of ILK strikingly reduced renal cystic disease and fibrosis and extended the life of pcy

21 that loss of Ift140 causes pronounced renal cystic disease and suggest that abnormalities in several

22 l polarity underlie TSC and ADPKD-associated cystic disease and targeting of this pathway may be of k

23 pk/cpk pups expressed both the typical renal cystic disease and the DPM.

24 Renal cystic diseases are a leading cause of renal failure.

25 e, but more aggressive, renal and pancreatic cystic disease as del34/del34.

26 undertaken to further characterize the renal cystic disease as quantitative trait in this F2 cohort a

27 Cystic disease as the underlying cause of renal failure

28 mpanied by a marked aggravation of the renal cystic disease, as reflected by kidney weights, histolog

29 aneous deletion of Gli2 attenuated the renal cystic disease associated with deletion of Thm1.

30 re associated with significant reductions in cystic disease, BUN and serum creatinine levels.

31 ppressor gene syndrome in which severe renal cystic disease can occur.

32 other protein products of genes involved in cystic disease: Cystin, the product of the mouse cpk loc

33 neys results in rapid or slow progression of cystic disease depending on whether the animals are juve

34 ) is a lethal disorder associated with renal cystic disease, encephalocele, ductal plate malformation

35 marked variability was observed in the renal cystic disease expressed in F2 bpk/bpk homozygotes of a

36 Gross cystic disease fluid protein (GCDFP-15), also known as p

37 The presence of gross cystic disease fluid protein 15 is also suggestive of me

38 for epithelial membrane antigen (EMA), gross cystic disease fluid protein-15 (GCDFP-15), cytokeratin

39 These studies identify a link between two cystic disease genes, HNF1beta (MODY5) and PKHD1 (ARPKD)

40 hat HNF-1beta regulates the transcription of cystic disease genes, including Pkd2 and Pkhd1.

41 polarity and decreased expression of several cystic disease genes, some of which we identified as nov

42 1beta regulates the transcription of several cystic disease genes.

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

44 Recently, renal cystic diseases have been associated with dysfunctional

45 le proteins whose functions are disrupted in cystic diseases have now been localized to the cilium or

46 ic approaches to slow the development of the cystic disease; however, little is known about the role

47 n the major loci responsible for human renal cystic disease in a common PKD pathway.

48 and XBP1 overexpression in vivo ameliorated cystic disease in a murine model with reduced PC1 functi

49 RAS inhibitors in slowing the progression of cystic disease in ADPKD are inconclusive, and we hypothe

50 VEGFC administration also improved cystic disease in Cys1(cpk/cpk) mice, a model of autosom

51 etween the severity of the DPM and the renal cystic disease in either F(2) cohort.

52 Renal cystic disease in homo- and heterozygotes of a Pkd2 mous

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

54 vitine does indeed yield effective arrest of cystic disease in jck and cpk mouse models of PKD.

55 d, although more than half developed hepatic cystic disease in later life, similar to the phenotype o

56 reatment with a proteasome inhibitor reduces cystic disease in orthologous gene models of human autos

57 deficiency in FPC increases the severity of cystic disease in Pkd2 mutants and down-regulates PC2 in

58 In addition, they cause an endothelial-lined cystic disease in the liver known as bacillary peliosis.

59 The severity of renal cystic disease in the major form of autosomal dominant p

60 e we show that renal injury leads to massive cystic disease in the same mouse line.

61 Cystic disease in trans-heterozygous Pkd1(+/-) : Pkd2 (+

62 Significant renal cystic disease in tuberous sclerosis usually reflects mu

63 ing a role for PKD1 in the etiology of renal cystic disease in tuberous sclerosis.

64 ml, respectively) on mTOR activity and renal cystic disease in two Pkd1-mutant mouse models at differ

65 The pathology of pancreatic cystic disease in VHL patients has not been well charact

66 e is one of the most common hereditary renal cystic diseases in children.

67 s an excellent candidate for as yet unmapped cystic diseases in man and animals.

68 Many renal cystic diseases, including autosomal dominant polycystic

69 The renal cystic disease is fully expressed in homozygotes and is

70 least in some patients, the severity of the cystic disease is inversely correlated with the level of

71 ing approaches, earlier diagnosis of hepatic cystic disease is possible, and measurement of kidney an

72 o therapies are currently available to treat cystic diseases, making it imperative to dissect molecul

73 Recent studies suggest that the cystic disease might result from defects in planar cell

74 t Xpl mutant, in which polydactyly and renal cystic disease occurs, maps to the homologous region of

75 type of PCK AVP(-/-) rats and aggravated the cystic disease of PCK AVP(+/+) rats but did not induce c

76 have intermediate survival in the absence of cystic disease or renal failure, providing the first ind

77 concluded that the severity of the bpk renal cystic disease phenotype is modulated by multiple loci a

78 In kat/kat mice, the renal cystic disease progresses more slowly but is morphologic

79 dk5 in the jck mice significantly attenuates cystic disease progression and is associated with shorte

80 Mutations associated with renal cystic diseases reside in genes encoding proteins that l

81 stal Chr 6, near D6Mit14, that affects renal cystic disease severity.

82 this drug leads to amelioration of the renal cystic disease similar to genetic STAT6 inactivation.

83 zygotes; these mutants developed less severe cystic disease than jck homozygotes and provided genetic

84 dered were the extent and pattern of hepatic cystic disease, the degree of hepatic and renal dysfunct

85 orphogenesis in 3D renal cultures link renal cystic disease to apical organization defects, whereas c

86 one pair of sisters who were discordant for cystic disease, two mother- daughter pairs who were disc

87 were somatic mosaics; the severity of their cystic disease varied considerably.

88 tion of polycystins and that the severity of cystic disease was directly related to the length of tim

89 After induction of cilia loss, cystic disease was not more pronounced in adult mice wit

90 n 17 patients with constitutional deletions, cystic disease was severe, with early renal insufficienc

91 irm that a defect in the Nek8 gene can cause cystic disease, we performed a cross-species analysis: i

92 omas, and 22 (88%) had no or mild pancreatic cystic disease, which is substantially more than the gen

93 t88 gene leads to delayed, adult-onset renal cystic disease, which provides a window of opportunity t