ライフサイエンスコーパス: ciliopathy

1 idney disease, a cilia-associated pathology (ciliopathy).

2 teins (TZPs) cause human inherited diseases (ciliopathies).

3 gital syndrome (OFD), an autosomal recessive ciliopathy.

4 Bardet-Biedl syndrome is a model ciliopathy.

5 nd the primary cilium, making JS a canonical ciliopathy.

6 t the primary cilium, NPH is classified as a ciliopathy.

7 ations of ARL13B lead to Joubert syndrome, a ciliopathy.

8 ependymal cells, which also exhibit a severe ciliopathy.

9 y ciliary dyskinesia, the most common motile ciliopathy.

10 est that this disorder may represent a novel ciliopathy.

11 Joubert syndrome (JBTS), a severe recessive ciliopathy.

12 nce the classification of JATD as a skeletal ciliopathy.

13 JBTS is a genetically heterogeneous ciliopathy.

14 l as CFAP52, whose mutations cause a similar ciliopathy.

15 utations of DCDC2 as causing a renal-hepatic ciliopathy.

16 individuals with a nephronophthisis-related ciliopathy.

17 efficacy of gene therapy in a mouse model of ciliopathy.

18 rodevelopmental pathology with features of a ciliopathy.

19 small GTPase 1), whose genes are mutated in ciliopathies.

20 hogenic mechanisms that potentially underlie ciliopathies.

21 ty, cause a wide range of pathologies called ciliopathies.

22 iological mechanisms underlying JS and other ciliopathies.

23 pted cilia signaling on tooth development in ciliopathies.

24 e approaches for intervention in progressive ciliopathies.

25 ted with human diseases including cancer and ciliopathies.

26 features with both SHH-related disorders and ciliopathies.

27 sms that may underlie brain abnormalities in ciliopathies.

28 ndromic metabolic diseases and plurisystemic ciliopathies.

29 sms of photoreceptor degeneration in retinal ciliopathies.

30 y factor in the pathogenesis of JS and other ciliopathies.

31 tion of heterogeneous human disorders called ciliopathies.

32 class of human diseases collectively termed ciliopathies.

33 the cause for several human diseases called ciliopathies.

34 y function, and this process is disrupted in ciliopathies.

35 tein, in the pathogenesis of RPGR-associated ciliopathies.

36 es our understanding of the morbid genome of ciliopathies.

37 heritance of Bardet-Biedl syndrome and other ciliopathies.

38 efects can result in severe disorders called ciliopathies.

39 spectrum of human genetic disorders, termed ciliopathies.

40 ociated with common genetic disorders termed ciliopathies.

41 tion and the mechanisms underlying different ciliopathies.

42 in developmental abnormalities and multiple ciliopathies.

43 cts in TZ assembly are associated with human ciliopathies.

44 et of importance for pathogenic mutations in ciliopathies.

45 pic clinical phenotypes, collectively called ciliopathies.

46 nes, some of which are associated with human ciliopathies.

47 r birth owing to organogenesis defects as in ciliopathies.

48 potential modifiers of heterogeneous retinal ciliopathies.

49 group of human pleiotropic syndromes called Ciliopathies.

50 ry antennae, with defects resulting in human ciliopathies.

51 on, two of the most common manifestations of ciliopathies.

52 the role of centriolar proteins in skeletal ciliopathies.

53 d with ASDs, abnormalities of head size, and ciliopathies.

54 esults in genetic instability and neuro- and ciliopathies.

55 RIP1L result in severe human diseases called ciliopathies.

56 areas focused on cilia activity and related ciliopathies.

57 nsport and is associated with human skeletal ciliopathies.

58 human syndromes collectively referred to as ciliopathies.

59 n associated with a group of diseases called ciliopathies.

60 esulting in altered mature cilia function in ciliopathies.

61 d to the emergence of brain abnormalities in ciliopathies.

62 ble a rapid and powerful characterization of ciliopathies.

63 erlap between lethal skeletal dysplasias and ciliopathies.

64 ntributing to the development of NPH-related ciliopathies.

65 mental brain disorders associated with human ciliopathies.

66 and provide novel therapeutic paradigms for ciliopathies.

67 e syndrome, maybe mechanistically related to ciliopathies.

68 ad to diverse clinical findings in syndromic ciliopathies.

69 rs without the hallmark clinical features of ciliopathies.

70 ength as an emerging pathogenic mechanism in ciliopathies.

71 y dysfunction causes severe diseases, termed ciliopathies.

72 the molecular pathogenesis of human skeletal ciliopathies.

73 with phenotypically related syndromes called ciliopathies.

74 og signaling and is most commonly mutated in ciliopathies.

75 of centrosomal proteins implicated in human ciliopathies.

76 nsible for several diseases in humans called ciliopathies.

77 ants, a pathway suggested to be defective in ciliopathies.

78 able expressivity of phenotypes in these two ciliopathies.

79 f human diseases collectively referred to as ciliopathies.

80 aling pathways affected in diseases known as ciliopathies.

81 nslate successfully as a treatment for other ciliopathies.

82 erived from individuals with closely related ciliopathies.

83 ms underlying Thm1-, Thm2- or IFT-A-mediated ciliopathies.

84 rest for investigations of the etiologies of ciliopathies.

85 ons contribute to a broad variety of retinal ciliopathies.

86 enerations (RDs) including canine and murine ciliopathies.

87 of cilia-related EVs may contribute to human ciliopathies.

88 se retinal degeneration in CEP290-associated ciliopathies.

89 iverse set of diseases collectively known as ciliopathies.

90 ing, which is compromised in various retinal ciliopathies.

91 impaired axoneme function causes a range of ciliopathies.

92 tions lead to rare inherited diseases called ciliopathies.

93 d in a group of human diseases classified as ciliopathies.

94 asis for understanding the etiology of human ciliopathies.

95 cture or function of primary cilia result in ciliopathies, a group of developmental and degenerative

96 degeneration is a common clinical feature of ciliopathies, a group of genetic diseases linked to cili

97 ir ciliary beating cause a variety of motile ciliopathies, a heterogeneous group of rare disorders.

98 of these ciliogenic genes has been linked to ciliopathy, a group of disorders caused by abnormal form

99 In patients with ARPKD or other ciliopathies, abdominal US is needed for diagnosis and s

100 e (BBS) is a pleiotropic autosomal recessive ciliopathy affecting multiple organs.

101 or the understanding of normal ciliogenesis, ciliopathies and cancer.

102 lated to primary cilia dysfunctions, such as ciliopathies and certain types of cancer.

103 Ciliopathies and dystroglycanopathies were the most comm

104 r examination of forebrain defects in severe ciliopathies and for a search for ciliopathy genes as mo

105 further examination of forebrain defects in ciliopathies and for a search for ciliopathy genes as mo

106 associated with a scoliosis phenotype, among ciliopathies and knockout animal models, we expected IS

107 n of new therapeutic agents for treatment of ciliopathies and neuropsychiatric disorders.

108 e can be considered a model for the study of ciliopathies and provide information for assessing diagn

109 here is a genetic and molecular link between ciliopathies and skin morphogenesis, we investigated the

110 field, the majority of the genes that drive ciliopathies and the mechanisms that govern the pronounc

111 tion: Can mitochondrial disturbances produce ciliopathy and does this explain some cases of heterotax

112 ith components of the cilium base, promoting ciliopathy and premature neurogenesis.

113 nitor cells, causing an atypical non-genetic ciliopathy and premature neuron delamination.

114 lts in cystic kidneys, a phenotype common to ciliopathies, and that Cby1 facilitates the formation of

115 tic diseases (eg, HNF1B nephropathy, various ciliopathies, and tuberous sclerosis complex), and fewer

116 Ciliopathies are a group of hereditary disorders associa

117 Ciliopathies are a large group of clinically and genetic

118 Ciliopathies are a spectrum of human diseases resulting

119 Because certain ciliopathies are associated with fibrogenesis, we sought

120 Often, ciliopathies are associated with mental retardation (MR)

121 Ciliopathies are characterized by a pattern of multisyst

122 Ciliopathies are clinical disorders of the primary ciliu

123 Ciliopathies are clinically diverse disorders of the pri

124 ent pathways not known to be associated with ciliopathies are defective in the absence of ciliopathy

125 Ciliopathies are genetic disorders that are caused by dy

126 of retinal degeneration in CEP290-associated ciliopathies are not sufficiently understood.

127 Ciliopathies are pleiotropic human diseases resulting fr

128 on that several proteins involved in retinal ciliopathies are translocated to these expansions render

129 Ciliopathies are unified by their overlapping clinical f

130 al consequences of defective primary cilium (ciliopathies) are characterized by marked phenotypic and

131 ), a monogenic autosomal recessive nonmotile ciliopathy, as an archetypal condition.

132 Bardet-Biedl syndrome (BBS) is one of the ciliopathies associated with defective ciliary trafficki

133 a major cause of Joubert syndrome (JBTS), a ciliopathy associated with cerebellar abnormalities and

134 F (rs200121688), and found that they exhibit ciliopathy-associated disorders including male infertili

135 from the ciliary localization of most other ciliopathy-associated gene products.

136 el provide additional support for ARMC9 as a ciliopathy-associated gene.

137 1) and a deletion and a duplication in other ciliopathy-associated genes (ALMS1 and NPHP4, respective

138 natomical phenotypes of the 16p11.2 CNV, and ciliopathy-associated genes.

139 Ciliopathy-associated IQCB1/NPHP5 protein is required fo

140 tiny volume accommodating a large number of ciliopathy-associated molecules.

141 PATA7 functions as a key member of a retinal ciliopathy-associated protein complex, and that apoptosi

142 ork in Caenorhabditis elegans identified two ciliopathy-associated protein complexes or modules that

143 tionally interact with the poorly understood ciliopathy-associated protein Jbts17 at basal bodies, wh

144 e of SSX2IP for efficient recruitment of the ciliopathy-associated satellite protein Cep290 to both s

145 harbouring mutated Tmem17, a protein not yet ciliopathy-associated, display ciliogenesis defects.

146 Although the two ciliopathies Bardet-Biedl syndrome and nephronophthisis

147 Its malfunction causes the severe ciliopathy Bardet-Biedl syndrome (BBS).

148 ibution of genes associated with two obesity ciliopathies, Bardet-Biedl Syndrome and Alstrom Syndrome

149 One type of ciliopathy, Bardet-Biedl syndrome, is a rare disorder ch

150 disease (ADPKD) are two genetically distinct ciliopathies but share common phenotypes such as renal c

151 on and common cystic phenotypes in syndromic ciliopathies, but their relevance is questioned in the s

152 to where human mutations cluster, produced a ciliopathy, but targeting near human p.Arg1066 and p.Trp

153 Motile ciliopathy can result from defects in the dyneins themse

154 and sensory functions, and defects in them, "ciliopathies," cause a range of symptoms, including blin

155 Bardet-Biedl syndrome (BBS) is a pleiotropic ciliopathy caused by dysfunction of primary cilia.

156 M #203800) is an autosomal recessive obesity ciliopathy caused by loss-of-function mutations in the A

157 Joubert syndrome (JBTS) is the archetypal ciliopathy caused by mutation of genes encoding ciliary

158 iedl syndrome (BBS) is a currently incurable ciliopathy caused by the failure to correctly establish

159 ions are associated with Joubert Syndrome, a ciliopathy causing cerebellar vermis hypoplasia and atax

160 lum, providing new mechanistic insights into ciliopathy cerebellar hypoplasia phenotypes.

161 Syndrome are recessively inherited skeletal ciliopathies characterized by profound skeletal abnormal

162 idney diseases (PKDs) comprise a subgroup of ciliopathies characterized by the formation of fluid-fil

163 ome (JBTS) is a recessive neurodevelopmental ciliopathy characterized by a pathognomonic hindbrain ma

164 Mutations in NPHP5 cause a ciliopathy characterized by severe childhood onset retin

165 n pleiotropic human genetic disorders called ciliopathies, characterized by overlapping phenotypes, s

166 dividuals from seven families with syndromic ciliopathy clinical features, including severe neonatal

167 load" beyond the causal variants between our ciliopathy cohort and a control non-ciliopathy cohort.

168 ween our ciliopathy cohort and a control non-ciliopathy cohort.

169 es reveals that most TZPs (including the MKS ciliopathy complex) show long-term stable association wi

170 re, corresponding to those involved in human ciliopathies, compromised the stability of the recombina

171 Photoreceptor ciliopathies constitute the most common molecular mechan

172 unknown whether proteins that contribute to ciliopathies converge on multiple paracrine pathways thr

173 Interestingly, several ciliopathies display conditions of the AS.

174 Some of the ciliopathies display skeletal dysplasias, implying the i

175 Finally, we show that the morbid genome of ciliopathies encompasses many founder mutations, the com

176 5) in humans and mice that presents a motile ciliopathy featuring situs inversus totalis and asthenos

177 Ciliopathies form a group of inherited disorders sharing

178 at Alms1a, a Drosophila homolog of the human ciliopathy gene Alstrom syndrome, is enriched on the mot

179 paper we study the role of the Ftm/Rpgrip1l ciliopathy gene in mouse forebrain development.

180 yes in mutant mice in which the Ftm/Rpgrip1l ciliopathy gene is disrupted.

181 This study indicates that RPGRIP1L, a ciliopathy gene, is essential for hair follicle morphoge

182 d genetically by the loss of Cep290, a human ciliopathy gene.

183 We used the library to query how ciliopathy genes affect distinct stages of mouse cortica

184 esults define the developmental functions of ciliopathy genes and delineate disrupted developmental e

185 defects in ciliopathies and for a search for ciliopathy genes as modifiers in human conditions affect

186 in severe ciliopathies and for a search for ciliopathy genes as modifiers in other human conditions

187 f mutation screening, targeted sequencing of ciliopathy genes associated with BBS, and whole-exome se

188 Our data suggest that dysregulation of ciliopathy genes contributes to the clinical phenotypes

189 liopathies, using an shRNA library targeting ciliopathy genes known to cause brain disorders, but who

190 ely causal mutations in previously described ciliopathy genes were identified in 85% (225/265) of the

191 llele of Cep290 (Cep290(null/+)) or of other ciliopathy genes, Rpgrip1, Nphp1, Nphp4 and Nphp5, exhib

192 to functions of the TZ, as well as candidate ciliopathy genes.

193 Joubert syndrome (JBTS) is an inherited ciliopathy giving rise to NPHP with cerebellar vermis ap

194 e findings reveal a novel mechanism that one ciliopathy GTPase ARL-13, as a GEF, coordinates with UNC

195 liary substructures and their disruptions in ciliopathies has been hindered by limitations of convent

196 Many ciliopathies have clinical features that include tooth m

197 types in mouse models and is associated with ciliopathies in human patients.

198 s a ciliary kinase associated with two renal ciliopathies in humans and mice, nephronophthisis (NPHP)

199 Mutations in the ANKS6 gene cause multiorgan ciliopathies in humans, which include laterality defects

200 ults highlight the importance of considering ciliopathies in the differential diagnosis of severe neo

201 uggest that the mechanisms of penetrance for ciliopathies in the OE extend beyond that of defects in

202 yndrome-related disorders (JSRD), a group of ciliopathies in which mutations disrupt primary cilia fu

203 iants affecting the primary cilium can cause ciliopathies in which RD may be either the sole clinical

204 eate an autosomal-dominant syndromic retinal ciliopathy in humans and suggest that multiple KIF3B pat

205 Joubert syndrome (JBTS) is a recessive ciliopathy in which a subset of affected individuals als

206 Meckel (MKS) syndromes, two severe forms of ciliopathy, in the context of skin development.

207 ock-out (KO) mouse presenting with syndromic ciliopathy including dysosmia and hydrocephalus.

208 Moreover, dental phenotypes are observed in ciliopathies, including Bardet-Biedl syndrome, Ellis-van

209 Human ciliopathies, including Joubert syndrome (JBTS), arise f

210 ts underlie the pathogenesis of severe human ciliopathies, including Joubert Syndrome (JBTS), Bardet-

211 mutated in humans, resulting in a number of ciliopathies, including Joubert syndrome (JS).

212 Some patients with ciliopathies, including primary ciliary dyskinesia and B

213 ing defects are the underlying cause of many ciliopathies, including Retinitis Pigmentosa (RP).

214 ts exhibit multiple birth defects typical of ciliopathies, including skeletal dysplasia, polydactyly,

215 n of which were known TZ proteins related to ciliopathies, indicating that the preparation was highly

216 omal protein 290 (CEP290) gene cause various ciliopathies involving retinal degeneration.

217 A broad spectrum of human diseases called ciliopathies is caused by defective primary cilia morpho

218 Current treatment of ciliopathies is limited to symptomatic therapy.

219 Yet the exact relationship between PCP and ciliopathy is not well understood.

220 ary receptors.SIGNIFICANCE STATEMENT Retinal ciliopathy is the most common form of inherited blinding

221 Bardet-Biedl syndrome (BBS), a ciliopathy, is a rare genetic condition characterised by

222 Patients with the ciliopathy Joubert syndrome have been suggested to have

223 KS3) is a major cause of MKS and the related ciliopathy Joubert syndrome, although the complete etiol

224 Missense mutations in ARL13B can cause the ciliopathy Joubert syndrome, while the mouse null allele

225 in ciliary motility in humans and lead to a ciliopathy known as primary ciliary dyskinesia (PCD).

226 candidate genes caused cilia elongation and ciliopathy-like phenotypes in zebrafish, which could not

227 aflagellar transport (IFT) components and 74 ciliopathy loci to screen 92 unrelated individuals with

228 in KIAA0586 (alias TALPID3), a known lethal ciliopathy locus in model organisms.

229 Cilia dysfunctions cause life-threatening ciliopathies, many of which are due to defects in the tr

230 We propose that JBTS and other ciliopathies may in part result from cell polarity defec

231 ypes similar to those in human MKS and other ciliopathy models were observed, with additional eye, sk

232 HP15, SCLT1) have been associated with human ciliopathies, namely nephronophthisis and orofaciodigita

233 Bardet-Biedl syndrome (BBS) is a defining ciliopathy, notable for extensive allelic and genetic he

234 Nephronophthisis-related ciliopathies (NPHP-RC) are recessive diseases characteri

235 Nephronophthisis-related ciliopathies (NPHP-RCs) are a group of inherited disease

236 Nephronophthisis-related ciliopathies (NPHP-RCs) are developmental and degenerati

237 n of NPHP1 in Bardet-Biedl syndrome (BBS), a ciliopathy of intermediate severity.

238 pleiotropic malformation syndromes known as ciliopathies, often characterised by cerebellar developm

239 ects in OFD1 underlie the clinically complex ciliopathy, Oral-Facial-Digital syndrome Type I (OFD Typ

240 t a correlation between defective gating and ciliopathy pathogenesis.

241 ugmenting proteasomal function might benefit ciliopathy patients.

242 n mutations in individuals with a consistent ciliopathy phenotype (Meckel-Gruber syndrome) and a func

243 Rpgrip1l(-/-) mouse embryos, which display a ciliopathy phenotype and die, at the latest, around birt

244 In addition to establishing a TTC26-related ciliopathy phenotype in humans, our results highlight th

245 wo Arab consanguineous families, we mapped a ciliopathy phenotype that most closely matches Joubert s

246 fibrocystic liver disease is an established ciliopathy phenotype, severe neonatal cholestasis is rar

247 Typical ciliopathy phenotypes (curved body shape, retinal dystro

248 hened M2 expression rescues some Inpp5e(-/-) ciliopathy phenotypes and "normalizes" Hedgehog signalin

249 nd that its deficiency results in a range of ciliopathy phenotypes in humans along the spectrum of Jo

250 y, mutation of CPLANE genes elicits specific ciliopathy phenotypes in mouse models and is associated

251 a and may explain the penetrance of specific ciliopathy phenotypes in olfactory neurons.

252 Arab and two Hutterite) affected by variable ciliopathy phenotypes ranging from Joubert syndrome to t

253 creases cilia tubulin glutamylation, induces ciliopathy phenotypes, including axis curvature, hydroce

254 The Sclt1-/- mice exhibit typical ciliopathy phenotypes, including cystic kidney, cleft pa

255 ants in two unrelated families with hallmark ciliopathy phenotypes.

256 Zebrafish depleted of MCM2 develop ciliopathy-phenotypes including microcephaly and aberran

257 the TZ result in cilia-related diseases, or ciliopathies, presenting symptoms including renal cysts,

258 Partial loss of CEP290-interacting ciliopathy protein MKKS mitigates lethality and renal pa

259 This work provides insights into how the ciliopathy protein Poc1 maintains basal body integrity.

260 The ciliopathy protein Poc1 stabilizes basal bodies through

261 ometry of interactors of the centrosomal and ciliopathy protein, CEP19, we identify CEP350, FOP, and

262 ciliopathies are defective in the absence of ciliopathy proteins.

263 this likely extends to individuals with the ciliopathy reduced generation of multiple motile cilia w

264 utosomal-dominant cause of a distinct motile ciliopathy related to defective ciliogenesis of the epen

265 Gruber syndrome (MKS) is an embryonic lethal ciliopathy resulting from mutations in genes encoding pr

266 three individuals), followed by renal cystic ciliopathies (seven out of nine individuals), steroid-re

267 lly reported to be associated with syndromic ciliopathies should also be considered in subjects with

268 Ciliopathy small GTPase ARLs are proposed as prominent c

269 milies, with phenotypes that span the entire ciliopathy spectrum.

270 Defective ciliary function causes ciliopathies such as autosomal dominant polycystic kidne

271 eal model for polarity defects seen in renal ciliopathies such as nephronophthisis.

272 as been found to be mutated in cancer cells, ciliopathies such as the polycystic kidney disease, as w

273 Patients affected by severe ciliopathies, such as Meckel syndrome, present several o

274 g signaling, and humans affected by skeletal ciliopathies suffer from premature bone growth arrest, m

275 rted that mutations in IFT172 cause a severe ciliopathy syndrome involving skeletal, renal, hepatic a

276 syndrome (JBTS) is an incurable multisystem ciliopathy syndrome.

277 Juvenile ciliopathy syndromes that are associated with renal cyst

278 mations are common features of several human ciliopathy syndromes, including nephronophthisis-related

279 affected females are also reported in known ciliopathy syndromes, we examined the role of USP9X in t

280 To create models of CEP290-associated ciliopathy syndromes, we generated Cep290(ko/ko) and Cep

281 ntial treatment strategy for a wide range of ciliopathy syndromes.

282 genetically heterogeneous group of skeletal ciliopathies that are characterized by a long narrow che

283 ciliogenesis of motile cilia, cause a motile ciliopathy that is characterized by hydrocephalus intern

284 t frequent cause of Senior-Loken syndrome, a ciliopathy that is characterized by Leber congenital ama

285 ) is a multisystem genetically heterogeneous ciliopathy that most commonly leads to obesity, photorec

286 yndromes, including nephronophthisis-related ciliopathies, the mechanism by which mutations in ciliar

287 o motile cilia biology and may lead to novel ciliopathy treatments.

288 on of cerebral cortex and their relevance to ciliopathies, using an shRNA library targeting ciliopath

289 patient phenotypes overlap defects common to ciliopathies, we asked if loss of CCDC32 might contribut

290 ntify additional DAP components defective in ciliopathies, we independently performed targeted exon s

291 TS) is a severe recessive neurodevelopmental ciliopathy which can affect several organ systems.

292 p of diseases and syndromic disorders termed ciliopathies, which affect many different tissues and or

293 ingle test can confirm a diagnosis of motile ciliopathy, which is based on a combination of tests inc

294 ia assembly (scenario also observed in other ciliopathies with compromised kidney function).

295 for understanding cortical malformations in ciliopathies with INPP5E mutations.

296 edl syndrome (BBS) is an autosomal recessive ciliopathy with multisystem involvement.

297 PS and show that IFT52 mutations result in a ciliopathy with primary effects on the skeleton.

298 alfunction leads to Bardet-Biedl syndrome, a ciliopathy with severe consequences.

299 list of human disorders, collectively called ciliopathies, with overlapping phenotypes such as develo

300 The canine disease is a non-syndromic LCA-ciliopathy, with normal renal structures and no CNS abno