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 endelian ratio and die at a weaning age with cystic kidneys.

6 acrophages to increase renal inflammation in cystic kidneys.

7 pes indicative of defective cilia, including cystic kidneys.

8 at survives shows hydrocephalus and severely cystic kidneys.

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

10 of certain components of the pathway causing cystic kidneys.

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

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

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

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

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

16 t target dysregulated signalling pathways in cystic kidney and liver are needed.

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

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

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

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

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

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

23 n the 23 affected members, with non-enlarged cystic kidneys and few or no liver cysts; 8 subjects rea

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

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

26 NAJB11 mutation carriers manifest with small cystic kidneys and renal failure in adulthood.

27 Cystic kidneys and vascular aneurysms are clinical manif

28 We screened >3900 families with cystic kidneys and/or livers using global approaches to

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

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

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

32 These include cystic kidneys, blindness, obesity, skeletal malformatio

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

34 The ALG9 kidney phenotype was also of mild cystic kidneys, but enlarged livers were rare; for both

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

36 it resulted in a massive infiltration of the cystic kidneys by macrophages and T cells, precluding an

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

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

39 ed severe limb deformities, polydactyly, and cystic kidneys, closely matching the phenotype of affect

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

41 %] vs 10 530 [35%]), and less likely to have cystic kidney disease (2530 [6%] vs 4600 [15%]).

42 o 2.42, 95% confidence interval: 1.53-3.85), cystic kidney disease (3.03, 1.26-7.31), and nephrolithi

43 focal segmental glomerulosclerosis (18.0%), cystic kidney disease (9.0%), alternative complement pat

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

45 mpared with those with glomerulonephritis or cystic kidney disease (adjusted hazard ratio [aHR], 0.96

46 of ESKD, including (1) glomerulonephritis or cystic kidney disease (adjusted subhazard ratio [aSHR],

47 Rats with spontaneous progressive cystic kidney disease (Cy/+ (IU)) and normal littermates

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

49 PKD1, PKD2, and other genes associated with cystic kidney disease (ie, ALG8, ALG9, DNAJB11, GANAB, H

50 monoallelic individuals uniformly exhibited cystic kidney disease (mostly neonatal) without consiste

51 ped on behalf of the Network for Early Onset Cystic Kidney Disease (NEOCYST) by an international grou

52 mples with ADPKD and generating a transgenic cystic kidney disease (TCKD) mouse model by overexpressi

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

54 pients with and without primary diagnoses of cystic kidney disease and for transplants from African A

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

56 uently associated with nephronophthisis-like cystic kidney disease and other organ manifestations.

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

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

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

60 study reveals segment-specific mechanisms in cystic kidney disease and suggests Grhl2 as a modifier o

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

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

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

64 Mutant mice present with cystic kidney disease as neonates.

65 However, these mice eventually succumbed to cystic kidney disease despite mTORC1 inactivation.

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

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

68 Analysis of the UK Biobank cystic kidney disease group showed probands with IFT140

69 Progression of cystic kidney disease has been linked to activation of t

70 Cystic kidney disease has been linked to mutations in th

71 the native kidneys, particularly if acquired cystic kidney disease has developed during prolonged dia

72 ygous for ALG8 PTVs are at increased risk of cystic kidney disease in a large, unselected health syst

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

74 snd (alias Barttin) as a genetic modifier of cystic kidney disease in Joubert syndrome, using a Cep29

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

76 Macrophage accumulation in cystic kidney disease is not directly regulated by the c

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

78 s in ALG8 result in increased risk of a mild cystic kidney disease phenotype.

79 Analyses of the cystic kidney disease probands of Genomics England 100K

80 However, the specific role of GRHL2 in cystic kidney disease remains unknown.

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

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

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

84 transcription factor Grhl2 in the context of cystic kidney disease was examined through analysis of i

85 Mutations of HNF-1beta produce cystic kidney disease, a phenotype associated with dereg

86 set CKD, focal segmental glomerulosclerosis, cystic kidney disease, alternative complement pathway-as

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

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

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

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

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

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

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

94 gotes were significantly more likely to have cystic kidney disease, defined as four or more kidney cy

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

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

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

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

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

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

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

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

103 8 being the NPHP9 gene in the human juvenile cystic kidney disease, nephronophthisis.

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

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

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

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

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

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

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

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

112 patient affected with progressive medullary cystic kidney disease.

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

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

115 mplications toward mitochondrial fitness and cystic kidney disease.

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

117 h polycystic liver disease and in some cases cystic kidney disease.

118 had variants in other genes associated with cystic kidney disease.

119 the diversity of immune cell involvement in cystic kidney disease.

120 n PKD1, PKD2, or other genes associated with cystic kidney disease.

121 mprove therapeutic efficacy in patients with cystic kidney disease.

122 everity, we generated a single-cell atlas of cystic kidney disease.

123 iation persisted only for recipients without cystic kidney disease.

124 sufficient to exacerbate the pathogenesis of cystic kidney disease.

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

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

127 fewer patients have simple cysts or acquired cystic kidney disease.

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

129 cific treatments available for patients with cystic kidney disease.

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

131 riably associated with retinal dystrophy and cystic kidney disease.

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

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

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

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

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

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

138 Cystic kidney diseases (CKDs) affect millions of people

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

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

141 (DKD), loss of bicaudal C is associated with cystic kidney diseases and Y-box binding protein 1 has b

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

143 Cystic kidney diseases are common renal disorders charac

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

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

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

147 Patients with inherited cystic kidney diseases have progressive cystic dilation

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

149 Some glomerular and cystic kidney diseases might benefit from disease-specif

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

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

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

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

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

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

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

157 a similar manner to that observed in various cystic kidney diseases.

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

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

160 response that links replication stress with cystic kidney disorders.

161 Recessive cases with prenatal cystic kidney dysplasia were recently described.

162 We found that the cystic kidney epigenetic landscape resembles that of a d

163 was possibly mediated by AURKA, to increase cystic kidney epithelial cell proliferation.

164 ethyltransferase 1 (DNMT1) is upregulated in cystic kidney epithelial cells and tissues and that knoc

165 ce-associated secretory phenotype present in cystic kidney epithelial cells provides a novel therapeu

166 a telangiectasia mutated (pATM) localized to cystic kidney epithelial cells.

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

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

169 ar localization of LEF1 are also observed in cystic kidneys from Hnf1b mutant mice.

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

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

172 molecular mechanism of cartilage defects and cystic kidneys has remained elusive.

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

174 tion mutations in NOTCH2 are associated with cystic kidneys in Hajdu-Cheney syndrome patients.

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

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

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

178 g our hypothesis that Nek1-inhibition causes cystic kidneys in zebrafish embryos.

179 rved that in kidneys from mice with juvenile cystic kidney (jck) ciliopathy, the aberrant hyperactivi

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

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

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

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

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

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

186 ALG8 and ALG9 are defined as cystic kidney/liver genes but with limited penetrance fo

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

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

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

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

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

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

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

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

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

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

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

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

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

200 Conditional Mks6 mutants have a variable cystic kidney phenotype along with severe retinal degene

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

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

203 parental mouse strain phenocopied the severe cystic kidney phenotype.

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

205 Our findings indicate that cystic kidneys rapidly adopt bypass mechanisms typically

206 , we show that re-expression of Pkd genes in cystic kidneys results in rapid reversal of ADPKD.

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

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

209 Cystic kidneys showed increased mitogen-activated protei

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

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

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

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

214 We explored whether MNPs can target cystic kidney tubules and whether rapamycin-encapsulated

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

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

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

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

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

220 phron-specific Tulp3 knockout mice developed cystic kidneys, while retaining intact cilia.

221 duals with ALG8 mutations typically had mild cystic kidneys with limited enlargement.

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