ライフサイエンスコーパス: TSC

1 TSC and apparent diffusion coefficient (ADC) were calcul

2 TSC and FCD are mTORopathies caused by a spectrum of pat

3 TSC and should be considered as an outcome measure in fu

4 TSC astrocytes appeared epithelial (i.e. tightly adheren

5 TSC differed between 9.63 and 29.47%.

6 TSC in all tissues was higher in patients with MS compar

7 TSC is associated with autism, intellectual disability a

8 TSC is associated with significant cognitive, psychiatri

9 TSC is caused by inactivating mutations in the genes enc

10 TSC is found to be more effective additive in order to m

11 TSC patients with autism display impairments in white ma

12 TSC results from inactivating variants within the TSC1 o

13 TSC values in normal glandular and adipose breast tissue

14 TSCs grew as mononuclear colonies, whereas upon inductio

15 brain penetrant TORKi showing efficacy in a TSC mouse model.

16 size, 14 mm +/- 12; range, 6-35 mm), with a TSC of 47 mmol/kg +/- 8 (P = .002).

17 branch, independent of the conventional Akt/TSC/Rheb signaling axis.

18 These findings indicate that not all TSCs function as ZMCs, and much of their activity can be

19 ADC and TSC were inversely correlated (r = -0.881, P < .001).

20 amounts of total phenolics, anthocyanins and TSC were selected for further breeding purposes to provi

21 ncreased with higher amounts of added CA and TSC in extruded rice.

22 tical malformations, childhood epilepsy, and TSC-associated neuropsychiatric disorders (TANDs).

23 tors, we show that embryogenesis of ESC- and TSC-derived embryos-ETS-embryos-depends on cross-talk in

24 identify a new interplay between the PKD and TSC genes, with important implications for the pathophys

25 tage in total heritable variance for SLA and TSC.

26 in accessibility at key genes upregulated as TSCs exit from the stem cell state.

27 , with depletions of the Rag GTPase blocking TSC lysosomal mobility and rescuing TORC1 activity.

28 tors are largely unknown in the human brain, TSC patient cortical tubers were used to uncover hyperph

29 ing Syk in this and other settings driven by TSC genetic mutation.

30 The secretion of chorionic gonadotropin by TSC-derived ST reflects a reprogramming of macaque TSCs

31 ne relieves allosteric inhibition of Rheb by TSC.

32 the close physical proximity of FePP and CA/TSC in the extruded rice matrix.

33 als (3.2%) than from No CA/TSC (1.7%) and CA/TSC solution (1.7%; all P < 0.05) and was not different

34 uded rice than in rice with No CA/TSC and CA/TSC solution, and solubility increased with higher amoun

35 ition of a citric acid/trisodium citrate (CA/TSC) mixture before extrusion increases iron absorption

36 absorption was significantly higher from CA/TSC-extruded meals (3.2%) than from No CA/TSC (1.7%) and

37 lubility and dialyzability were higher in CA/TSC-extruded rice than in rice with No CA/TSC and CA/TSC

38 CA/TSC-extruded meals (3.2%) than from No CA/TSC (1.7%) and CA/TSC solution (1.7%; all P < 0.05) and

39 CA/TSC-extruded rice than in rice with No CA/TSC and CA/TSC solution, and solubility increased with h

40 Iron bioavailability nearly doubled when CA/TSC was extruded with FePP into fortified rice, resultin

41 dialyzable iron from rice meals in which CA/TSC was added at different preparation stages and from m

42 stages and from meals with different iron:CA:TSC ratios.

43 GC-1beta pathway-separate from the canonical TSC-mTOR-S6K pathway-that regulates browning of adipose

44 Takotsubo stress cardiomyopathy (TSC) is a syndrome characterized by transient myocardial

45 at 2 d after surgery, with over 85% CD146(+) TSCs expressing IL-10.

46 d expression of IL-10 and TIMP-3 in CD146(+) TSCs are regulated by JNK/signal transducer and activato

47 oprotease (TIMP)-3 was expressed in CD146(+) TSCs at 1 wk with CTGF, in contrast to control with no T

48 eta that is significantly higher in CD146(+) TSCs compared to CD146(-) tendon cells.

49 nd CTGF and significantly higher in CD146(+) TSCs than CD146(-) tendon cells.

50 gnificantly increased the number of CD146(+) TSCs, leading to enhanced healing.

51 and aggresiveness of tumor stem-like cells (TSCs) expressing IGF1 receptor (IGF1R).

52 Tendon stem/progenitor cells (TSCs) have been found in different anatomic locations an

53 uscle membranes, and terminal Schwann cells (TSCs) that cover the nerve-muscle contact.

54 r-enhancers (SEs) in trophoblast stem cells (TSCs) as a model.

55 s to develop macaque trophoblast stem cells (TSCs) as an in vitro platform for future assessment of p

56 Trophoblast stem cells (TSCs) give rise to specialized cell types within the pla

57 ) and extraembryonic trophoblast stem cells (TSCs) in a three-dimensional scaffold to generate struct

58 tem cells (ESCs) and trophoblast stem cells (TSCs) recapitulates this process, forming embryo-like st

59 Trophoblast stem cells (TSCs) retain the capacity to self-renew indefinitely and

60 ein EED in F1 hybrid trophoblast stem cells (TSCs), which undergo imprinted inactivation of the pater

61 Higher CGM TSC was independently associated with Expanded Disabilit

62 converts naive tumor cells to chemoresistant TSCs, thereby facilitating their invasiveness and progre

63 odium tartarate (DST) and trisodium citrate (TSC) in the temperature range (288.15-318.15)K from the

64 ICANCE STATEMENT Tuberous sclerosis complex (TSC) and focal cortical dysplasia (FCD) are epileptogeni

65 Tuberous sclerosis complex (TSC) and focal cortical dysplasia (FCD) are focal malfor

66 of children with tuberous sclerosis complex (TSC) and is often resistant to medication.

67 atient with both tuberous sclerosis complex (TSC) and LAM (TSC-LAM) into induced pluripotent stem cel

68 Tuberous Sclerosis Complex (TSC) and Lymphangioleiomyomatosis (LAM) are caused by in

69 ystic kidneys in Tuberous Sclerosis Complex (TSC) and other genetic disorders.

70 sorders, such as tuberous sclerosis complex (TSC) and sporadic lymphangioleiomyomatosis.

71 Patients with tuberous sclerosis complex (TSC) frequently develop collagenous connective tissue ne

72 onal loss of the Tuberous Sclerosis Complex (TSC) gene, Tsc1, which inhibits the mammalian target of

73 by mutations in tuberous sclerosis complex (TSC) genes and is associated with insulin resistance, de

74 ing mutations in tuberous sclerosis complex (TSC) genes, and recruit abundant stromal cells.

75 isease (PKD) and tuberous sclerosis complex (TSC) genes.

76 pathogenesis of tuberous sclerosis complex (TSC) have not yet been studied.

77 Tuberous Sclerosis Complex (TSC) is a complex and heterogeneous genetic disease that

78 Tuberous sclerosis complex (TSC) is a genetic disorder caused by mutations in TSC1 o

79 Tuberous sclerosis complex (TSC) is a genetic multiorgan disorder characterized by t

80 Tuberous Sclerosis Complex (TSC) is a neurodevelopmental disorder caused by mutation

81 Tuberous sclerosis complex (TSC) is a pediatric disorder of dysregulated growth and

82 Tuberous sclerosis complex (TSC) is a potent inhibitor of TORC1.

83 Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder causing benig

84 Tuberous sclerosis complex (TSC) is a rare autosomal dominant neurodevelopmental dis

85 Tuberous sclerosis complex (TSC) is a rare genetic disease causing multisystem growt

86 Tuberous Sclerosis Complex (TSC) is a rare genetic disease that manifests with early

87 Tuberous Sclerosis Complex (TSC) is a rare genetic disorder that results from a muta

88 Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterized by m

89 Tuberous Sclerosis Complex (TSC) is an autosomal dominant genetic disorder that mani

90 Tuberous sclerosis complex (TSC) is an autosomal dominant syndrome that causes tumor

91 Tuberous sclerosis complex (TSC) is an autosomal dominant tumor suppressor syndrome,

92 Tuberous sclerosis complex (TSC) is an autosomal dominant tumor-suppressor gene synd

93 Tuberous sclerosis complex (TSC) is caused by mutations in the TSC1 and TSC2 tumor s

94 Tuberous Sclerosis Complex (TSC) is caused by mutations in TSC1 or TSC2, which encod

95 Tuberous sclerosis complex (TSC) is characterized by tumor development in the brain,

96 re a hallmark of tuberous sclerosis complex (TSC) manifestations; however, the genesis of these abnor

97 ppocampus and in tuberous sclerosis complex (TSC) patient-derived astrocytes.

98 The Tuberous Sclerosis Complex (TSC) protein complex (TSCC), comprising TSC1, TSC2, and

99 rowth factor and tuberous sclerosis complex (TSC) signaling, is driven by RagC/D, and is separable fr

100 mutations in the tuberous sclerosis complex (TSC) tumor suppressor genes are associated closely with

101 Loss of the tuberous sclerosis complex (TSC) tumor suppressors results in activation of mTORC1 a

102 with loss of the tuberous sclerosis complex (TSC) tumor suppressors, which exhibit growth factor-inde

103 in patients with tuberous sclerosis complex (TSC), a disease with overactivated mechanistic target of

104 ific deletion of tuberous sclerosis complex (TSC), a major upstream inhibitor of mTOR, surprisingly a

105 nd Tsc2 form the tuberous sclerosis complex (TSC), a regulator of mTOR activity.

106 ssors underlying tuberous sclerosis complex (TSC), and generated a SS/L network for TSC.

107 een R2TP and the tuberous sclerosis complex (TSC), pointing to a potential link between growth signal

108 (ASD), including tuberous sclerosis complex (TSC).

109 orders including tuberous sclerosis complex (TSC).

110 ancer and causes tuberous sclerosis complex (TSC).

111 ptic seizures in tuberous sclerosis complex (TSC).

112 ephaly (HME) and tuberous sclerosis complex (TSC).

113 suppressor genes tuberous sclerosis complex (TSC)1 or TSC2.

114 te whether brain total sodium concentration (TSC) is a biomarker for long-term disease outcomes in a

115 tive whole-brain total sodium concentration (TSC) maps in participants with ALS with those in control

116 ion of absolute tissue sodium concentration (TSC), an external phantom was used.

117 that aberrant mTORC1 activation might confer TSC-null cell dependence on transcriptional regulation.

118 leaf area (SLA), and tissue starch content (TSC), suggesting that deleterious burden decreases trait

119 ividual anthocyanin and total sugar content (TSC) of wide range of plum cultivars was done in order t

120 Here, perovskite thin-single-crystal (TSC) photodetectors are fabricated with a vertical p-i-n

121 Thermally stimulated current (TSC) measurements are employed to investigate the optica

122 have been analyzed, of whom 13 had definite TSC, whereas another 7 had a possible TSC diagnosis.

123 entification rate for patients with definite TSC was 85%, but only 29% for the ones with a possible T

124 Diminished TSC function is associated with excess glycogen storage,

125 xpression and chromatin accessibility during TSC differentiation.

126 n unusual biphasic expression profile during TSC differentiation and thus may be pivotal in balancing

127 dynamic alterations of their targets during TSC differentiation.

128 Eed (-/-) TSCs lack H3K27me3 and Xist lncRNA enrichment on the ina

129 inactive X-linked genes in WT and Eed (-/-) TSCs suggests that PRC2 acts as a brake to prevent induc

130 2 targets that remain repressed in Eed (-/-) TSCs are depleted for active chromatin characteristics i

131 d X-linked genes is derepressed in Eed (-/-) TSCs.

132 a classical biallelic inactivation of either TSC genes (TSC1, hamartin or TSC2, tuberin), an event th

133 Elevated TSC correlated moderately with corticospinal conduction

134 Potential overlap of abnormal elevated TSC with regions of atrophy as detected with (1)H MRI al

135 and to localize regions of abnormal elevated TSC.

136 However, mechanisms driving ESC-TSC interaction remain elusive.

137 strates Wnt signaling, ESC polarization, ESC-TSC pairing, and consequently synthetic embryogenesis.

138 Our results uncover ESC-TSC contact-mediated signaling, reminiscent of the gluta

139 nd associated neuropathology in experimental TSC and FCD.

140 sphorylation of TSC2, which is essential for TSC exchange.

141 variable presentations can be important for TSC diagnosis.

142 patient variants and mTOR activity level for TSC, FCD, and potentially other mTORopathies.SIGNIFICANC

143 ng for CAD risk factors and risk markers for TSC.

144 plex (TSC), and generated a SS/L network for TSC.

145 ovel potential therapeutic opportunities for TSC and LAM.

146 teric modulators (an mGluR5 NAM and PAM) for TSC, using a mutant mouse model with neuronal loss of Ts

147 s and that HMGA2 activation was required for TSC mesenchymal tumorigenesis in genetically engineered

148 Our findings reveal a complex role for TSC in oligodendrocytes during remyelination in which th

149 may inform novel therapeutic strategies for TSC patients.

150 mTORC1 as the central therapeutic target for TSC pathogenesis, our findings identify mTORC1-independe

151 serve as a potential therapeutic target for TSC, lymphangioleiomyomatosis (LAM), and other mTORC1-hy

152 could be a promising therapeutic target for TSC-associated tumors.

153 We tested all four TSCs in a number of cell-based assays to examine mutant

154 ion, we found that stem cells generated from TSC patients had a very high rate of integration of the

155 Genetically, TSC is said to occur through a classical biallelic inact

156 Brain regions showing higher TSC represented a volume of 15.4 cm(3) that did not over

157 key cell cycle genes in both mouse and human TSCs and establishes a conserved transcriptional program

158 uppress IGFBP7, and this stimulates IGF1R(+) TSCs to express FGF4, inducing a feedforward FGFR1-ETS2

159 Importantly, TSC-associated renal angiomyolipomas have higher express

160 In TSC tumors, loss of the TSC1/TSC2 protein complex leads

161 or ATX in TSC2-deficient cell fitness and in TSC tumorigenesis.

162 We propose that a subset of cells in TSC and LAM lesions have additional signaling aberration

163 The role of mesenchymal-derived cells in TSC tumorigenesis was investigated through disruption of

164 lous cytotrophoblasts followed by culture in TSC medium to maintain cellular proliferation.

165 ells may contribute to renal cystogenesis in TSC patients.

166 chondrial damage, and necrotic cell death in TSC-deficient cells in a highly synergistic and cell con

167 To study aberrations of early development in TSC, we generated induced pluripotent stem cells using d

168 ndependent pathways that are dysregulated in TSC and that should therefore be taken into account in t

169 histone acetylation might be dysregulated in TSC.

170 shed the rapamycin-induced uPA expression in TSC-compromised cells.

171 a result of mutations in TSC1/TSC2 genes in TSC patients, because we observed the reactivation of ma

172 Galectin-3 was increased in TSC-related skin tumors, angiomyolipomas, and lymphangio

173 may contribute to cognitive inflexibility in TSC.

174 Duration of mTOR inhibition in TSC was not significantly associated with a decrease in

175 ions for the effects of mTORC1 inhibitors in TSC, cancers, and the many other disease settings influe

176 strates of these disabling manifestations in TSC.

177 buting to the neurological manifestations in TSC.

178 ticipated role for chromatin modification in TSC and may inform novel therapeutic strategies for TSC

179 ligodendrocyte maturation and myelination in TSC.

180 ful therapeutic potential for mGluR5 NAMs in TSC, which warrants clinical exploration and the continu

181 we identify significant neuroinflammation in TSC-associated brain tumours.

182 and TSC2 mutational analysis carried out in TSC patients in Greece.

183 re employed to promote tumor pathogenesis in TSC and identify a novel, critical pathway for potential

184 modified the natural history of seizures in TSC, reducing the risk and severity of epilepsy.

185 uppressed by the RIP1/RIP3/MLKL signaling in TSC-deficient cells, and could be a promising therapeuti

186 uses underlying abnormal glycogen storage in TSC irrespective of the underlying mutation.

187 associated with the neurological symptoms in TSC.

188 rsus conventional antiepileptic treatment in TSC infants.

189 ristic trophoblast hallmarks were defined in TSCs and ST including expression of C19MC miRNAs and the

190 ression and CRISPR/Cas9-mediated knockout in TSCs showed that high Plet1 levels favour differentiatio

191 yolipoma cells, but not in cells with intact TSC.

192 synergizes with BSO and auranofin in killing TSC-deficient cells.

193 th tuberous sclerosis complex (TSC) and LAM (TSC-LAM) into induced pluripotent stem cells (iPSC), fol

194 Macaque TSC lines were generated by isolating first and second t

195 Our analyses of macaque TSCs suggests that these cells represent a proliferative

196 rived ST reflects a reprogramming of macaque TSCs to an earlier pregnancy phenotype.

197 In these regions, mean TSC was higher in participants with ALS (mean, 45.6 mmol

198 as achieved, with high reproducibility (mean TSC values +/- standard deviation for the test, 36 mmol

199 Moreover, the rate of exchange mirrors TSC function, with depletions of the Rag GTPase blocking

200 sion was detected in 100% of human and mouse TSC tumors and that HMGA2 activation was required for TS

201 We describe a case of TSC that presented tumors of the gastro intestinal tract

202 Taken together, this molecular catalogue of TSC serves as a resource into the origin of these hamart

203 log treatment is proposed for the control of TSC and LAM lesions, which increases the chances for the

204 t with a clinical and molecular diagnosis of TSC and a family history of cancer, presenting two rare

205 ations can be important for the diagnosis of TSC.

206 Thus, some forms of TSC could be treated with PKCe inhibitors, while metasta

207 However, the function of TSC has not been studied in the context of remyelination

208 ible Cre-lox system to study the function of TSC in the remyelination of a focal, lysolecithin-demyel

209 Here, we present the genomic landscape of TSC hamartomas.

210 Using a mouse model of TSC (Tsc2-RG) in which the Tsc2 gene is deleted in radia

211 ons to a previously described mouse model of TSC and FCD that allows for titration of seizure frequen

212 ssociated neuropathology in a mouse model of TSC and FCD.

213 ssociated neuropathology in a mouse model of TSC and FCD.

214 on via similar mechanisms in mouse models of TSC.

215 mozygous mutant cells to the pathogenesis of TSC and the important role of p53 during reprogramming.

216 ted the role of HMGA2 in the pathogenesis of TSC using the TSC2(+/-) mouse model that similarly mirro

217 e TrkB signaling in the complex pathology of TSC and reveal a therapeutic target.

218 The mTOR-dependent, epithelial phenotype of TSC astrocytes suggests TSC1/2 and mTOR tune the phospho

219 describing the epidemiology and prognosis of TSC.

220 rol TORC1 activity through the regulation of TSC dynamics in HeLa cells and Drosophila.

221 bit TORC1 activity through the regulation of TSC dynamics.

222 logs (rapalogs) are approved for treating of TSC and LAM.

223 mising therapeutic approach for treatment of TSC-associated tumors and cancers with mutations in eith

224 ent need for studies on optimal treatment of TSC.

225 d drugs that selectively affect viability of TSC-deficient cells, representing promising candidates f

226 e of grain-boundaries, the trap densities of TSCs are 10-100 folds lower than that of polycrystalline

227 ng strategies have enabled the generation of TSCs from fibroblasts, opening up exciting new avenues t

228 We identified a role of TSCs in the regulation of inflammation during healing of

229 in ESCs but expressed on the cell surface of TSCs and trophoblast giant cells.

230 thesis have selective deleterious effects on TSC-deficient cells, including in mouse tumor models.

231 Therefore, haploinsufficiency of one TSC tumor suppressor gene was required for tumor initiat

232 enuate LAM progression and potentially other TSC-related disorders.

233 Here, we have investigated the other TSCs, NSC319725 and NSC328784, identified in the same sc

234 tors based on CH3 NH3 PbBr3 and CH3 NH3 PbI3 TSCs show low noise of 1-2 fA Hz(-1/2) , yielding a high

235 finite TSC, whereas another 7 had a possible TSC diagnosis.

236 %, but only 29% for the ones with a possible TSC diagnosis.

237 Alternatively, when challenged with rapalogs TSC-null cells are reprogrammed to express mesenchymal-l

238 le for brain dysconnectivity, recapitulating TSC pathology in human patients.

239 t-specific human trophoblast stem cells (RPL-TSCs), we show that loss of TEAD4 is associated with def

240 ssociated with defective self-renewal in RPL-TSCs and rescue of TEAD4 expression restores their self-

241 Tuberous sclerosis (TSC) is a tumor suppressor gene syndrome that is associa

242 2 complex (TSC1/2) cause tuberous sclerosis (TSC), a hereditary syndrome with neurological symptoms a

243 Importantly, Blimp1 not only silences TSC gene expression but also prevents aberrant activatio

244 Since TSC effectors are largely unknown in the human brain, TS

245 independent associations of tissue-specific TSC with physical disability and cognition, with adjustm

246 t anti-inflammatory roles of CTGF-stimulated TSCs that are likely associated with improved tendon hea

247 ame screen, as well as the more well studied TSC, 3-AP (Triapine), to determine whether they function

248 for realizing topological superconductivity (TSC).

249 nxiety (STAI-T) and trauma-related symptoms (TSC-40) were collected; the disinhibition scale of the t

250 mTORC1 and development of the tumor syndrome TSC.

251 sted the relationship between BD-II, STAI-T, TSC-40, TFEQ, CWIT, and BMI with correlation analyses.

252 and behavioral problems, collectively termed TSC-Associated Neuropsychiatric Disorders (TAND), and th

253 We determine that TSC lesions contain a low somatic mutational burden rela

254 We find that TSC lysosomal-cytosolic exchange increases in response t

255 Moreover, our findings suggest that TSC has different functions in developmental myelination

256 ng mutations in either TSC1 or TSC2, and the TSC protein complex is an essential regulator of mTOR co

257 d (1)H-MRI and (23)Na-MRI and calculated the TSC in cortical grey matter (CGM), deep grey matter, nor

258 gene products hamartin and tuberin form the TSC complex that acts as GTPase-activating protein for R

259 an their WT counterparts, resulting from the TSC inactivation.

260 This study provides new insights into the TSC transcriptomic network along with the identification

261 of CTGF from neurons, in turn, mitigates the TSC-dependent hypomyelination phenotype.

262 ean size, 31 mm +/- 24; range, 6-92 mm), the TSC of 69 mmol/kg +/- 10 was, on average, 49% higher tha

263 lly suppresses lysosomal localization of the TSC complex and interaction with its target small GTPase

264 ing an LPA/S1P-mediated reprogramming of the TSC lipidome.

265 roaches to investigate the complexity of the TSC molecular network.

266 ow grade neuroendocrine tumor as part of the TSC syndromic phenotype.

267 plain the severe renal manifestations of the TSC/PKD contiguous gene syndrome and open new perspectiv

268 These findings indicate that the TSC/mTORC1/AKT/GSK3beta/beta-catenin/MITF axis plays a c

269 26 (ZMC1), belongs to the thiosemicarbazone (TSC) class of metal ion chelators that bind iron, copper

270 -fold higher in ST culture media compared to TSC media.

271 n and FS properties, which may contribute to TSC neuropsychiatric symptoms.

272 ed transcriptional repertoire contributes to TSC-associated tumorigenesis is unknown.

273 alized ESC-generated cytonemes that react to TSC-secreted Wnts.

274 Here, we present a route to TSC using magnetic flux applied to a full superconductin

275 ed to uncover hyperphosphorylation unique to TSC primary astrocytes, the cell type affected in the br

276 romising candidates for repurposing to treat TSC-related tumors.

277 hypomethylated and expressed in trophoblast (TSCs) stem cells are very rare and may have particularly

278 abnormal intracellular signaling underlying TSC has been the focus of many studies.

279 tion of AMPK classically inhibits mTORC1 via TSC/RHEB, but several lines of evidence suggest addition

280 rothelial carcinomas, tumors associated with TSC gene mutations.

281 The renal abnormalities associated with TSC include angiomyolipoma, cysts, and renal cell carcin

282 the electrographic seizures associated with TSC.

283 Despite its oncogenic effect, cells with TSC deficiency were more sensitive to oxidative stress a

284 In this multicenter study, 94 infants with TSC without seizure history were followed with monthly v

285 By interfering with TSC-Rheb complex, arginine relieves allosteric inhibitio

286 Being a patient with TSC was associated with a hazard ratio of 2.1 for death

287 tem cells (iPSCs) from a female patient with TSC with one or two mutations in TSC2 into neurons using

288 m hypomelanotic macules from 6 patients with TSC all exhibited reduced TSC2 protein expression, and 1

289 Patients with TSC and control subjects were identified from the Swedis

290 nist agents was more common in patients with TSC compared with either of the control groups.

291 Patients with TSC develop hypomelanotic macules (white spots), but the

292 s, has been documented in some patients with TSC or FCD.

293 Patients with TSC were characterized by a low cardiovascular risk fact

294 raphy was performed; 104 adult patients with TSC were enrolled in an observational cohort study that

295 In this retrospective study, patients with TSC who were taking mTOR inhibitors and who underwent at

296 e of connective tissue nevi in patients with TSC.

297 rmal fibroblasts obtained from patients with TSC.

298 , and potentially epilepsy, in patients with TSC.

299 (median [range] age, 42 [19-70] years) with TSC (56%) had at least 1 connective tissue nevus on the

300 d for active chromatin characteristics in WT TSCs.

301 Unexpectedly, in wild-type (WT) TSCs these genes are transcribed and are enriched for ac