ライフサイエンスコーパス: cystic kidney

1 e a promising treatment for SCLT1-associated cystic kidney.

2 mase-like AngII generating capacity in ADPKD cystic kidneys.

3 erstitial abnormalities and smaller cysts in cystic kidneys.

4 -1) that was significantly underexpressed in cystic kidneys.

5 pes indicative of defective cilia, including cystic kidneys.

6 at survives shows hydrocephalus and severely cystic kidneys.

7 o distal tubular segments in both normal and cystic kidneys.

8 of certain components of the pathway causing cystic kidneys.

9 doses sufficient to reduce phospho-ERK1/2 in cystic kidneys.

10 t deletion of the mouse Cby1 gene results in cystic kidneys, a phenotype common to ciliopathies, and

11 eterotaxy, cardiopulmonary malformations and cystic kidneys, a syndrome also characteristic of mutati

12 letion of TAZ in zebrafish also results in a cystic kidney accompanied by overexpression of PC2.

13 r Pkd2) and structure (Tg737) play a role in cystic kidney and aneurysm through survivin downregulati

14 In PKD2 cystic kidney and liver, we find polycystin-2 expression

15 nerated zebrafish mutants for pkd1 and noted cystic kidney and mTOR activation in pkd1a mutants, sugg

16 Affected individuals typically develop large cystic kidneys and approximately one half develop end-st

17 ockout mice resulted in development of multi-cystic kidneys and cardiac hypertrophy in some mice.

18 ethal condition with skeletal abnormalities, cystic kidneys and CNS malformation.

19 disruption of the PKD1 gene in mice leads to cystic kidneys and embryonic or perinatal death.

20 ebrafish caused ciliary paralysis leading to cystic kidneys and otolith defects and that knockdown in

21 The mice die shortly after birth, with cystic kidneys and proteinaceous debris throughout the l

22 Cystic kidneys and vascular aneurysms are clinical manif

23 Knockdown of ift80 in zebrafish resulted in cystic kidneys, and knockdown in Tetrahymena thermophila

24 Analysis of these adults revealed severely cystic kidneys associated with the presence of renal ade

25 characteristic imaging findings (echogenic, cystic kidney at US that did not function at scintigraph

26 Fz3 was expressed on the cilia of cystic kidneys but barely detected on the cilia of norma

27 Macrophages infiltrate cystic kidneys, but the role of these and other inflamma

28 bit typical ciliopathy phenotypes, including cystic kidney, cleft palate and polydactyly.

29 Thus, proximal tubular injury in cystic kidneys closely parallels that observed with uret

30 es were observed in heterozygotes, including cystic kidney, craniofacial malformations, microphthalmi

31 cell carcinoma in association with acquired cystic kidney disease (ACKD).

32 y represented among the basal body proteome: cystic kidney disease (especially nephronophthisis) synd

33 ile nephronophthisis, an autosomal recessive cystic kidney disease afflicting children and young adul

34 e polaris (Tg737), a protein associated with cystic kidney disease and left-right axis patterning def

35 ronophthisis (NPH) is an autosomal-recessive cystic kidney disease and represents the most common gen

36 re Nephronophthisis (NPHP), characterized by cystic kidney disease and retinal degeneration, and Meck

37 have been linked to human diseases including cystic kidney disease and retinitis pigmentosa.

38 ing another link between proteins mutated in cystic kidney disease and their localization to cilia an

39 an aminopeptidase XPNPEP3 is associated with cystic kidney disease and TNF-TNFR2 cellular signaling.

40 Animal models of inherited cystic kidney disease are useful for study of the pathog

41 Mutant mice present with cystic kidney disease as neonates.

42 was also dramatically up-regulated in murine cystic kidney disease epithelia [jck/jck (nek8) and Ift8

43 ation in pkd2, one of two autosomal dominant cystic kidney disease genes, did not show increased risk

44 Cystic kidney disease has been linked to mutations in th

45 A-related kinase, Nek8, are associated with cystic kidney disease in both humans and mice, with Nek8

46 ssive polycystic kidney disease (ARPKD) as a cystic kidney disease in which lesions are localized to

47 Jouberin (Jbn) protein in mouse leads to the cystic kidney disease nephronophthisis, owing to an unex

48 Cystic kidney disease represents a major cause of end-st

49 e of the simple mendelian disorder medullary cystic kidney disease type 1 (MCKD1), mapped more than a

50 nile hyperuricemic nephropathy and medullary cystic kidney disease type 2.

51 Defects in primary cilia lead to cystic kidney disease, although the ciliary mechanisms t

52 Variable features include retinal dystrophy, cystic kidney disease, and liver fibrosis.

53 fier role for the 'trans' polycystin gene in cystic kidney disease, and support a contribution from t

54 on and function are the predominant cause of cystic kidney disease, and that the genes identified her

55 The jck mouse is another model of recessive cystic kidney disease, and this mouse harbors a missense

56 t recipients, especially those with acquired cystic kidney disease, are at increased risk for renal c

57 ants, these pathological alterations include cystic kidney disease, biliary and pancreatic duct abnor

58 ominant polycystic kidney disease, medullary cystic kidney disease, diabetic nephropathy, or CKD of u

59 l development, as well as diseases including cystic kidney disease, hydrocephalus and situs inversus.

60 hronophthisis (NPHP), an autosomal-recessive cystic kidney disease, is the most frequent genetic caus

61 Nephronophthisis (NPHP), a recessive cystic kidney disease, is the most frequent genetic caus

62 al manifestation of JBTS is a juvenile-onset cystic kidney disease, known as nephronophthisis, typica

63 hronophthisis (NPHP), an autosomal recessive cystic kidney disease, leads to chronic renal failure in

64 homologues associated with diseases such as cystic kidney disease, male sterility, and hydrocephalus

65 h as the miR-17 approximately 92 cluster and cystic kidney disease, miR-92a and von Hippel-Lindau syn

66 8 being the NPHP9 gene in the human juvenile cystic kidney disease, nephronophthisis.

67 d long term and developed slowly progressive cystic kidney disease, renal fibrosis, and hydronephrosi

68 hronophthisis (NPHP), an autosomal recessive cystic kidney disease, represents the most frequent gene

69 anscriptional control in the pathogenesis of cystic kidney disease, retinal degeneration, and central

70 fied in association with inherited causes of cystic kidney disease, the molecular mechanisms that reg

71 which harbors candidate genes for medullary cystic kidney disease, whereas mouse Rhbg is syntenic on

72 In addition, mutant mice develop cystic kidney disease, with markedly increased tubule di

73 We report that loss of murine Thm1 causes cystic kidney disease, with persistent proliferation of

74 s a critical role in situs determination and cystic kidney disease, yet its exact function remains un

75 mplications toward mitochondrial fitness and cystic kidney disease.

76 sive polycystic kidney disease, or medullary cystic kidney disease.

77 that block the assembly of these cilia cause cystic kidney disease.

78 sufficient to exacerbate the pathogenesis of cystic kidney disease.

79 to UUO is similar in a number of respects to cystic kidney disease.

80 kidneys, renal agenesis, hydronephrosis and cystic kidney disease.

81 ved in epithelial-mesenchymal transition and cystic kidney disease.

82 ation is associated with the pathogenesis of cystic kidney disease.

83 cific treatments available for patients with cystic kidney disease.

84 n has been implicated in the pathogenesis of cystic kidney disease.

85 riably associated with retinal dystrophy and cystic kidney disease.

86 idney size, which is an index of severity of cystic kidney disease.

87 ent of these localization motifs may lead to cystic kidney disease.

88 idism halts late-stage progression of rodent cystic kidney disease.

89 dney homeostasis, the loss of which leads to cystic kidney disease.

90 rk of ciliary dysfunction analogous to human cystic kidney disease.

91 e pronephros) is simple and genes that cause cystic kidney diseases (CKD) in humans, cause pronephric

92 Cystic kidney diseases (CKDs) affect millions of people

93 anism that links the Hh signaling pathway to cystic kidney diseases and can open new avenues for the

94 that are elucidating the genetic defects of cystic kidney diseases and providing clues about the pat

95 e complex, support the unifying concept that cystic kidney diseases are "ciliopathies".

96 Cystic kidney diseases are common renal disorders charac

97 anism for dysregulation of cAMP signaling in cystic kidney diseases arising from different gene mutat

98 ontributed to a unifying theory that defines cystic kidney diseases as "ciliopathies." The theory is

99 st formation may guide potential therapy for cystic kidney diseases by targeting the structural and f

100 Patients with inherited cystic kidney diseases have progressive cystic dilation

101 he products of all genes that are mutated in cystic kidney diseases in humans, mice, or zebrafish are

102 on the finding that all proteins mutated in cystic kidney diseases of humans or animal models are ex

103 sts inhibit cystogenesis in animal models of cystic kidney diseases, presumably by downregulating cAM

104 HP) comprises a group of autosomal recessive cystic kidney diseases, which constitute the most freque

105 cilia development, cilia function, and human cystic kidney diseases.

106 genes that are known to be involved in human cystic kidney diseases.

107 and pkd2, are already associated with human cystic kidney diseases.

108 he abnormal planar cell polarity observed in cystic kidney diseases.

109 has helped advance a new unifying theory of cystic kidney diseases.

110 syndrome (JBTS) are a group of heterogeneous cystic kidney disorders with partially overlapping loci.

111 response that links replication stress with cystic kidney disorders.

112 ss of polarity and enhanced proliferation in cystic kidney epithelium.

113 schemia-reperfusion injury as a "third hit." Cystic kidneys exhibited striking upregulation and activ

114 arl13b was initially cloned as the novel cystic kidney gene scorpion (sco) in zebrafish and was s

115 Here, we show that the zebrafish cystic kidney gene seahorse is closely associated with c

116 GFR, and the progressive enlargement of the cystic kidneys in adult ADPKD.

117 whether loss of function of Arl13b leads to cystic kidneys in mammals, we generated a mouse model wi

118 Treatment of mouse Pkd1-null cystic kidneys in organ culture with a c-Met pharmacolog

119 l cysts and management strategies for use of cystic kidneys in transplantation are presented.

120 Similar to autosomal dominant PKD, juvenile cystic kidney (jck) mice develop cysts in multiple nephr

121 ey disease (PKD) progression in the juvenile cystic kidney (jck) mutation can be influenced by an epi

122 The murine autosomal recessive juvenile cystic kidney (jck) mutation results in polycystic kidne

123 usion to map the recessive mutation juvenile cystic kidney (jck) to mouse chromosome 11 using an inte

124 odes a ciliary kinase, produces the juvenile cystic kidneys (jck) model of polycystic kidney disease,

125 g-lasting attenuation of PKD in the juvenile cystic kidneys (jck) mouse model of nephronophthisis by

126 sly showed slows cyst progression in a mouse cystic kidney model with neonatal inactivation of Pkd1,

127 ediator of cAMP signaling, in developing and cystic kidney models.

128 of polycystic kidney disease in the juvenile cystic kidney mouse.

129 kinase that is mutated in the jck (juvenile cystic kidneys) mouse, a model of autosomal recessive ju

130 idative stress, was shown to be increased in cystic kidneys of mice and rats in a pattern that reflec

131 eroxidase were also reduced in plasma and in cystic kidneys of mice and rats.

132 dney cells and promoted miR-21 expression in cystic kidneys of mice.

133 was also observed in Pkd2-/-placentae and in cystic kidneys of Pkd1cond/-; Meox2cre/+ mice.

134 ng was carried out using RNA from normal and cystic kidneys of the C57BL/6J-cpk mouse.

135 ed misregulation of multiple pathways in the cystic kidneys of this model.

136 cripts of Hedgehog target genes increased in cystic kidneys of two other orthologous mouse mutants, j

137 the perinatal period with massively enlarged cystic kidneys, pancreatic ductal cysts and pulmonary hy

138 Surprisingly, the cystic kidney pathology in these mutants is dependent on

139 nction, supporting the idea that the lack of cystic kidney phenotype in human patients with ARL13B mu

140 Flcn knockout mice did not rescue the multi-cystic kidney phenotype.

141 d to result from increased expression by the cystic kidneys predominantly in the second and third pos

142 somal-recessive ciliopathies presenting with cystic kidneys, retinal degeneration, and cerebellar/neu

143 ive of the timing of Pkd1 gene inactivation, cystic kidneys showed enhanced uptake of (13)C-glucose a

144 n ventral body curvature, hydrocephalus, and cystic kidneys, similar to the effects of knocking down

145 nfantile nephronophthisis is associated with cystic kidneys, situs inversus, and INVS mutations.

146 lial cells, causing the development of large cystic kidneys that characterize autosomal dominant poly

147 otypes ranging from retinal degeneration and cystic kidneys to neural tube defects.

148 ctivation on the enlargement and function of cystic kidneys was evaluated.

149 expression levels and activity in normal and cystic kidneys were far greater for MMP-2.

150 n humans, Pax2 is also expressed in juvenile cystic kidneys where it correlates with cell proliferati

151 els of sphingoid base-containing isoforms in cystic kidneys, whereas changes were subtle for Gb4Cer-c

152 c-Myc upregulates miR-17 approximately 92 in cystic kidneys, which in turn aggravates cyst growth by

153 before postnatal day 13 results in severely cystic kidneys within 3 weeks, whereas inactivation at d