ライフサイエンスコーパス: ciliopathy

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

2 lydactyly, neural tube defects, and obesity (ciliopathies).

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

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

5 nce the classification of JATD as a skeletal ciliopathy.

6 JBTS is a genetically heterogeneous ciliopathy.

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

8 individuals with a nephronophthisis-related ciliopathy.

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

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

11 ncing in a sibling pair with an NPHP-related ciliopathy.

12 we show that LS display characteristics of a ciliopathy.

13 ion in IFT88 causes a hitherto unknown human ciliopathy.

14 reatment to reestablish cilia in a mammalian ciliopathy.

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

16 Bardet-Biedl syndrome is a model ciliopathy.

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

18 est that this disorder may represent a novel ciliopathy.

19 ry antennae, with defects resulting in human ciliopathies.

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

21 the role of centriolar proteins in skeletal ciliopathies.

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

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

24 esults in genetic instability and neuro- and ciliopathies.

25 RIP1L result in severe human diseases called ciliopathies.

26 areas focused on cilia activity and related ciliopathies.

27 nsport and is associated with human skeletal ciliopathies.

28 human syndromes collectively referred to as ciliopathies.

29 n associated with a group of diseases called ciliopathies.

30 esulting in altered mature cilia function in ciliopathies.

31 iological mechanisms underlying JS and other ciliopathies.

32 d to the emergence of brain abnormalities in ciliopathies.

33 ble a rapid and powerful characterization of ciliopathies.

34 erlap between lethal skeletal dysplasias and ciliopathies.

35 ntributing to the development of NPH-related ciliopathies.

36 mental brain disorders associated with human ciliopathies.

37 and provide novel therapeutic paradigms for ciliopathies.

38 ad to diverse clinical findings in syndromic ciliopathies.

39 rs without the hallmark clinical features of ciliopathies.

40 ength as an emerging pathogenic mechanism in ciliopathies.

41 the molecular pathogenesis of human skeletal ciliopathies.

42 pted cilia signaling on tooth development in ciliopathies.

43 with phenotypically related syndromes called ciliopathies.

44 og signaling and is most commonly mutated in ciliopathies.

45 of centrosomal proteins implicated in human ciliopathies.

46 nsible for several diseases in humans called ciliopathies.

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

48 able expressivity of phenotypes in these two ciliopathies.

49 autophagic response may underlie some common ciliopathies.

50 transcription of Fgf8 is a common feature of ciliopathies.

51 ng DYNC2H1, underlies a spectrum of skeletal ciliopathies.

52 set of human diseases collectively known as ciliopathies.

53 e pathological mechanisms of LCA and related ciliopathies.

54 n disease: FGF-hyperactivation syndromes and ciliopathies.

55 ciated with blinding diseases called retinal ciliopathies.

56 ead to a group of genetic syndromes known as ciliopathies.

57 scovery of new disorders collectively called ciliopathies.

58 related phenotypes and potentially for other ciliopathies.

59 e approaches for intervention in progressive ciliopathies.

60 rowing class of pleiotropic disorders termed ciliopathies.

61 tion results in diseases collectively called ciliopathies.

62 in abnormalities in Joubert syndrome-related ciliopathies.

63 of cystogenesis observed in NPHP and related ciliopathies.

64 numbers are seen in many cancers and in some ciliopathies.

65 with phenotypically related syndromes called ciliopathies.

66 a possible novel approach for treating human ciliopathies.

67 on cause a class of complex syndromes termed ciliopathies.

68 broad class of human genetic diseases called ciliopathies.

69 d anatomical abnormalities typically seen in ciliopathies.

70 enesis and transport cause pleiotropic human ciliopathies.

71 anisms that underlie a large number of human ciliopathies.

72 ted with human diseases including cancer and ciliopathies.

73 ion and analogous to those observed in human ciliopathies.

74 liary protein that is defective in two human ciliopathies.

75 , several of which have been linked to known ciliopathies.

76 features with both SHH-related disorders and ciliopathies.

77 sms that may underlie brain abnormalities in ciliopathies.

78 ndromic metabolic diseases and plurisystemic ciliopathies.

79 sms of photoreceptor degeneration in retinal ciliopathies.

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

81 tion of heterogeneous human disorders called ciliopathies.

82 class of human diseases collectively termed ciliopathies.

83 the cause for several human diseases called ciliopathies.

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

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

86 es our understanding of the morbid genome of ciliopathies.

87 heritance of Bardet-Biedl syndrome and other ciliopathies.

88 efects can result in severe disorders called ciliopathies.

89 hogenic mechanisms that potentially underlie ciliopathies.

90 spectrum of human genetic disorders, termed ciliopathies.

91 ociated with common genetic disorders termed ciliopathies.

92 tion and the mechanisms underlying different ciliopathies.

93 in developmental abnormalities and multiple ciliopathies.

94 cts in TZ assembly are associated with human ciliopathies.

95 et of importance for pathogenic mutations in ciliopathies.

96 pic clinical phenotypes, collectively called ciliopathies.

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

98 r birth owing to organogenesis defects as in ciliopathies.

99 potential modifiers of heterogeneous retinal ciliopathies.

100 group of human pleiotropic syndromes called Ciliopathies.

101 Ciliopathies, a class of rare genetic disorders, present

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

103 and function of cilia manifest clinically as ciliopathies, a growing class of pleiotropic genetic dis

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

105 tation in NEK8 that is associated with renal ciliopathies affects its genome maintenance functions.

106 n emerging class of human disorders, termed "ciliopathies." Although mounting interest in the cilium

107 vermis and hemispheres in all patients with ciliopathy analyzed, suggesting that the specific cause

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

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

110 Ciliopathies and dystroglycanopathies were the most comm

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

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

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

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

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

116 Ciliopathies are a broad class of human disorders with c

117 Ciliopathies are a group of hereditary disorders associa

118 The ciliopathies are a group of heterogeneous diseases with

119 Ciliopathies are a large group of clinically and genetic

120 Renal ciliopathies are a leading cause of kidney failure, but

121 Ciliopathies are a spectrum of human diseases resulting

122 Because certain ciliopathies are associated with fibrogenesis, we sought

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

124 Ciliopathies are characterized by a pattern of multisyst

125 Ciliopathies are clinically diverse disorders of the pri

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

127 Ciliopathies are genetic disorders that are caused by dy

128 Ciliopathies are pleiotropic human diseases resulting fr

129 Nephronophthisis (NPHP)-related ciliopathies are recessive, single-gene disorders that c

130 Ciliopathies are unified by their overlapping clinical f

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

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

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

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

138 Ciliopathy-associated IQCB1/NPHP5 protein is required fo

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

140 ting protein required for recruitment of the ciliopathy-associated protein Cep290 to centriolar satel

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 l and colleagues have now clearly linked two ciliopathy-associated proteins (CEP290 and MKKS).

145 ence suggests interactions among the various ciliopathy-associated proteins, but the precise mechanis

146 efects, and complex interactions exist among ciliopathy-associated proteins.

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

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

149 Although the two ciliopathies Bardet-Biedl syndrome and nephronophthisis

150 use a hydrocephalic mouse model of the human ciliopathy Bardet-Biedl Syndrome (BBS) and identify a ro

151 KS mutations identified in patients with the ciliopathy Bardet-Biedl syndrome disrupted this interact

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

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

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

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

156 ting that it might be possible to treat some ciliopathies by fine-tuning interactions within the expa

157 ons in AHI1 result in the neurodevelopmental ciliopathy called Joubert syndrome.

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

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

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

161 S) and Meckel syndrome (MKS) are pleiotropic ciliopathies characterized by severe defects of the cere

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

163 Primary ciliary dyskinesia (PCD) is a ciliopathy characterized by airway disease, infertility,

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

165 oubert syndrome (JBTS), a neurodevelopmental ciliopathy, characterized by midbrain-hindbrain malforma

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

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

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

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

170 e frequency of dysmorphology and severity of ciliopathy developmental defects caused by mks3 knockdow

171 n defects in both kinds of cilia cause human ciliopathies, diseases with diverse manifestations such

172 d part of a growing list of syndromes called ciliopathies, disorders resulting from defective cilia.

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

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

175 Ciliopathies form a group of inherited disorders sharing

176 hanism of reduced expression for a syndromic ciliopathy gene causing isolated retinal degeneration is

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

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

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

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

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

182 teins, and human genetics is identifying new ciliopathy genes at an increasing pace.

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

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

185 ate that reduced dosage of correctly spliced ciliopathy genes may be a common disease mechanism in re

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

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

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

189 an effect not seen after knockdown of other ciliopathy genes.

190 Bardet-Biedl syndrome is one such ciliopathy, genetically heterogeneous with 17 BBS genes

191 However, our growing understanding of ciliopathy genetics, coupled with recent advances in gen

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

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

194 p to disorders of the primary cilium, termed ciliopathies, has not been explored.

195 Many ciliopathies have clinical features that include tooth m

196 ze to cilia and centrosomes defined them as "ciliopathies." However, disease mechanisms remain poorly

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 identify single-gene causes of NPHP-related ciliopathies in single affected families is needed.

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

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

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

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

204 DYNC2H1, have been linked to human skeletal ciliopathies, including asphyxiating thoracic dystrophy

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

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

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

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

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

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

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

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

213 that screening for TTC26 mutations in human ciliopathies is justified.

214 Current treatment of ciliopathies is limited to symptomatic therapy.

215 The genetic basis of ciliopathies is remarkably complex, with an incomplete b

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

217 derstand the molecular mechanisms underlying ciliopathies, it is of high importance to generate a cat

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

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

220 he worm orthologue of ARL13B that mutated in ciliopathy Joubert syndrome.

221 ses a phenotypically indistinguishable human ciliopathy, Joubert syndrome.

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

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

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

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

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

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

228 etween the Nek8 kinase, mutated in the renal ciliopathy nephronophthisis, and DNA damage control by c

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

230 Nephronophthisis-related ciliopathies (NPHP-RC) are degenerative recessive diseas

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

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

233 stic kidney disease (ARPKD), the most common ciliopathy of childhood, is characterized by congenital

234 stic kidney disease (ARPKD), the most common ciliopathy of childhood, is characterized by congenital

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

236 individuals with a nephronophthisis-related ciliopathy or whole-exome resequencing in 63 individuals

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

238 Mutations in OFD1 cause the syndromic ciliopathies orofaciodigital syndrome-1, which is male l

239 ugmenting proteasomal function might benefit ciliopathy patients.

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

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

242 Typical ciliopathy phenotypes (curved body shape, retinal dystro

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

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

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

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

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

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

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

250 pression decreases this ratio, mimicking the ciliopathy primary ciliary dyskinesia.

251 al proteins, including a recently identified ciliopathy protein centrosomal protein 164 (CEP164).

252 We thus uncover a ciliopathy protein complex that finely tunes dishevelled

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

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

255 The ciliopathy protein Poc1 stabilizes basal bodies through

256 Here, we identify the function of the ciliopathy protein Rpgrip1l in planar polarity.

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

258 0rd16 allele directly interacts with another ciliopathy protein, MKKS.

259 demonstrate that autophagic degradation of a ciliopathy protein, OFD1 (oral-facial-digital syndrome 1

260 omplex with inversin and nephrocystin-4, two ciliopathy proteins known to target dishevelled to the p

261 ciliopathies are defective in the absence of ciliopathy proteins.

262 ndrome (BBS), which are collectively termed "ciliopathies." Recent protein-protein interaction studie

263 Depletion of CEP41 causes ciliopathy-related phenotypes in zebrafish and mice and

264 However, the precise function of many ciliopathy-related proteins and the mechanisms by which

265 combined with genetic analyses revealed that ciliopathy-related proteins form several functional netw

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

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 uber syndrome factors, associated with human ciliopathies, suggesting an important role for cell pola

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

277 Juvenile ciliopathy syndromes that are associated with renal cyst

278 es reminiscent of Bardet-Biedl/Meckel-Gruber ciliopathy syndromes, including cardiac outflow tract an

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

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

285 ngle consanguineous patient with an MKS-like ciliopathy that presented with both MKS and cerebellar h

286 rimary cilia, classifying this disease as a "ciliopathy." The primary cilium is a critical regulator

287 as been made in identifying genes that cause ciliopathies, therapies for these disorders are not yet

288 rides characterizing the ciliome and sensory ciliopathies through exploration of the phenotype-genoty

289 Our findings link the group of skeletal ciliopathies to an additional IFT-B component, IFT172, s

290 linked to a variety of human diseases, named ciliopathies, underscoring the importance of understandi

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

292 ify additional IFT-B components defective in ciliopathies, we independently performed different mutat

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

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

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

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

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

298 brain phenotypic variability of these human ciliopathies, with categorization of Tmem67 mutant anima

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

300 a frequent cause of human diseases known as ciliopathies, yet molecular mechanisms for specific targ