ライフサイエンスコーパス: HD

1 HD (v = 1, j = 2) was prepared by Stark-induced adiabati

2 HD cases classified as not healed all converted to HD-ne

3 HD iPSCs exhibited elevated proteasome activity and high

4 HD is caused by a CAG repeat expansion in the Huntingtin

5 HD mice exhibited significantly altered functional conne

6 HD patients were genotyped for heterozygosity at three S

7 HD repeat-associated non-ATG (RAN) translation proteins

8 HD-PTP is a tumour suppressor phosphatase that controls

9 y reduced in the striatum and cortex of R6/2 HD mice as well as in the striatum of HD patients.

10 ed that skeletal muscle from transgenic R6/2 HD mice is hyperexcitable due to decreased chloride and

11 In this final cohort, there were 37 HD cases during the first 30 days following induction, f

12 Heidelberg, Germany), AngioPlex (Cirrus 5000 HD-OCT; Carl Zeiss Meditec, Inc, Dublin, California, USA

13 nd the rate of clinical progression in 5,821 HD mutation carriers.

14 tion either in the histidine-aspartate acid (HD) domain (a quadruple mutation) or in the GGDD motif o

15 tions and has good in vitro activity against HD strains from both genital and skin ulcers.

16 Although HD is monogenic, its molecular manifestation appears hig

17 Although HD pathogenesis is driven by the expanded CAG repeat, wh

18 An HD mouse model heterozygous for CK2alpha' shows increase

19 Here we show that an HD-Zip transcription factor homologous to the LATE MERIS

20 Evidence from AD and HD studies suggest that other neurodegenerative dementia

21 odels which gave the best fitting for CD and HD, respectively.

22 ext, dNTP triphosphohydrolase SAM domain and HD domain-containing protein 1 (SAMHD1) has been identif

23 SAM domain and HD domain-containing protein 1 (SAMHD1), an innate immun

24 ailure rates were 96% and 95% in apex LD and HD groups at 5 years and 77% and 95% at 10 years, respec

25 Apex LD and HD groups did not differ for time to death or enucleatio

26 outcomes did not differ between apex LD and HD groups.

27 polar mating system with 2 MAT loci (P/R and HD) located on different chromosomes.

28 targets better discriminated between RA and HDs or SLE, with significantly higher AHA levels against

29 High-dose araC (HD-araC) was used in the second induction cycle instead

30 that constitute potential cross-talk between HD and the unfolded protein response (UPR).

31 cal data for accurate discrimination between HDs and patients with AMI was assessed on the basis of e

32 morphology and position are pre-patterned by HD-ZIPIII and KAN gene expression in the shoot, leading

33 transport and a mutation of an NUP can cause HD-like pathology.

34 inhibition of the nucleus prepositus caused HD cells to become directionally unstable under dark con

35 shown to have prognostic value for clinical HD progression and brain atrophy.

36 used as accessible and reliable pre-clinical HD markers.

37 Remarkably, the consensus-HD binds the engrailed-HD cognate DNA in a similar mode

38 The unfolding free energy of the consensus-HD is 5 kcal.mol(-1) higher than that of the naturally o

39 f PDH in the HD brain, helping to counteract HD-related deficits in mitochondrial bioenergetics and m

40 Cytogenetics 2.7 M Microarrays/CytoScan HD arrays allowed mapping of homozygous regions of the g

41 ctious hospitalization event within 60 days (HD+) (n = 12), vs. those with no event (HD-) (n = 12) sh

42 n (HBsAg), prevalent hepatic decompensation (HD), hepatocellular carcinoma (HCC), and those treated f

43 The three high-definition (HD) RGCs possess small receptive-field centers and stron

44 cause mortality, below which <1.5% developed HD and HCC and </=2.5% died at 3 years.

45 Recent studies in different HD mouse models demonstrated that dysfunction of astrocy

46 e rat limbic system contains head direction (HD) cells that fire according to heading in the horizont

47 Head direction (HD), boundary vector, grid and place cells in the entorh

48 ctive genetic testing in Huntington disease (HD) enables therapeutic trials in HTT gene expansion mut

49 Huntington disease (HD) is a neurodegenerative disease caused by a mutation

50 Huntington disease (HD) is the most common inherited neurodegenerative disor

51 ht loss is a hallmark of Huntington disease (HD), but it is unknown to what extent weight loss impact

52 pathological hallmark of Huntington disease (HD)-within the various compartments of the spinal cord a

53 ional dysregulation in Huntington's disease (HD) brain, but analysis is inevitably limited by advance

54 ondrial dysfunction in Huntington's disease (HD) by showing that the pyruvate dehydrogenase (PDH) com

55 emanifest and manifest Huntington's disease (HD) gene expansion carriers (HDGECs), but they have yiel

56 the causative gene for Huntington's disease (HD) has promoted numerous efforts to uncover cellular pa

57 Huntington's disease (HD) is a dominantly inherited neurodegenerative disease

58 vidence indicates that Huntington's disease (HD) is a multisystem disorder.

59 Huntington's disease (HD) is a neurodegenerative disease caused by an abnormal

60 Huntington's disease (HD) is a neurodegenerative disorder caused by expansion

61 Huntington's disease (HD) is a polyglutamine (polyQ) disease caused by aberran

62 Huntington's disease (HD) is a progressive and fatal degenerative disorder tha

63 Huntington's disease (HD) is an autosomal dominant inherited neurodegenerative

64 Huntington's disease (HD) is an inherited neurodegenerative disease affecting

65 Huntington's disease (HD) is an inherited neurodegenerative disorder of which

66 Huntington's disease (HD) is caused by an expanded CAG repeat in the Huntingti

67 Huntington's disease (HD) is caused in large part by a polyglutamine expansion

68 SIGNIFICANCE STATEMENT Huntington's disease (HD) is characterized by selective neurodegeneration that

69 odegenerative disorder Huntington's disease (HD) is typically characterized by extensive loss of stri

70 ression in preclinical Huntington's disease (HD) models.

71 Huntington's disease (HD) reflects dominant consequences of a CAG repeat expan

72 ock-in mouse models of Huntington's disease (HD) with CAG lengths of 50 and above and in the YAC128 a

73 to the pathogenesis of Huntington's disease (HD), a devastating neurodegenerative disorder, how prote

74 kinson's disease (PD), Huntington's disease (HD), and multiple sclerosis (MS).

75 son's disease (PD) and Huntington's disease (HD), frontotemporal dementia (FTD), amyotrophic lateral

76 ding of astrocytes and Huntington's disease (HD), with a focus on correlative and causative dysfuncti

77 e mutation that causes Huntington's disease (HD).

78 c, autosomal dominant, Huntington's disease (HD).

79 in the pathogenesis of Huntington's disease (HD).

80 toplasmic transport in Huntington's disease (HD).

81 (Htt) and age onset of Huntington's disease (HD); however, the underlying molecular mechanism is stil

82 mbrane helices domain (TMD), a hinge domain (HD) and an intact extracellular cysteine-rich domain (CR

83 (Mb) in 10 plasma samples of healthy donors (HDs) and 14 plasma samples of patients with acute myocar

84 as immunological markers in healthy donors (HDs) and patients with rheumatoid arthritis (RA) or syst

85 vided into apex low-dose (LD) and high-dose (HD) groups (</= or > median apex dose 84.35 Gy).

86 Heavy drinkers (HD, N=16, 16 males) and normal controls (NM, N=24, 14 ma

87 Using a Drosophila HD model, we find that nonaggregated pathogenic Htt acts

88 Using a Drosophila HD model, we found that pathogenic Htt expression leads

89 Haemophilus ducreyi (HD) and Treponema pallidum subspecies pertenue (TP) are

90 of systolic contractile function fell during HD and HDF, with partial recovery after dialysis.

91 ion rates of 3.8+/-2.9 ml/kg per hour during HD and 4.4+/-2.5 ml/kg per hour during HDF (P=0.29), and

92 ial perfusion decreased significantly during HD and HDF.

93 emerged as an independent predictor of early HD.

94 ients on HD (ages 32-72 years old) to either HD or HDF.

95 owever, the molecular mechanisms that enable HD-PTP to regulate ESCRT function are unknown.

96 an that of the naturally occurring engrailed-HD from Drosophila melanogaster.

97 rkably, the consensus-HD binds the engrailed-HD cognate DNA in a similar mode as the engrailed-HD wit

98 gnate DNA in a similar mode as the engrailed-HD with approximately 100-fold higher affinity.

99 ore, using longitudinal data from the Enroll-HD study, we assessed the association between baseline b

100 ays (HD+) (n = 12), vs. those with no event (HD-) (n = 12) showed that HDL from HD+ patients were enr

101 ere as follows: CP <5; MELD <8; FIB-4 <3 for HD and HCC, and <2 for all-cause mortality, below which

102 ice, thus constituting a promising agent for HD neuroprotective treatment.

103 Here we identify a pathway essential for HD remodeling and outline its role with respect to alpha

104 Patients aged >/=4 years operated for HD with TEPT between 1987 and 2011 answered detailed que

105 : Although TEPT is the surgical standard for HD, controlled long-term follow-up studies evaluating bo

106 toxicity might be a therapeutic strategy for HD.

107 potentially valuable therapeutic target for HD.

108 ight be an attractive therapeutic target for HD.

109 n the development of future therapeutics for HD.

110 us and cerebellum of post-mortem brains from HD individuals, particularly in those with early onset d

111 n WT iPSCs, whereas the neurons derived from HD iPSC had higher AKT activities than their WT counterp

112 PDH activity in striatal cells derived from HD knock-in mice and YAC128 mice.

113 In this study, methane emissions from HD natural gas fueled vehicles and the compressed natura

114 HDL from HD patients were enriched in SAA, LBP, ApoC-III, di-sial

115 no event (HD-) (n = 12) showed that HDL from HD+ patients were enriched in SAA but had lower levels o

116 t and rehydration ability were obtained from HD.

117 HD brain tissue, as well as in tissues from HD animal models.

118 Furthermore, HD iPSCs had lower AKT activities than WT iPSCs, whereas

119 Furthermore, HD myeloid cells are hyper-reactive compared to control.

120 o forecast methane emissions from the future HD transportation sector.

121 Hemidesmosomes (HDs) are epithelial-specific cell-matrix adhesions that

122 (MetS) (n = 13), and diabetic hemodialysis (HD) patients (n = 24).

123 The DLX3 homeodomain (HD) was essential for DLX3-GCM1 interaction, and that th

124 l sheet from external mechanical strain, how HDs respond to mechanical stress remains poorly understo

125 ith mHTT, HD iPSC-derived neurons, and human HD brain regions.

126 , in medium spiny neurons derived from human HD iPSCs and in brain samples from patients with HD.

127 ) at 50, 60, and 70 degrees C and by hybrid (HD; microwave-convectional) drying at 120, 150, and 180W

128 In HD patients, LV SUV showed a progressive increase during

129 In HD, microwave power and hot air were performed simultane

130 activity), an effect that was accentuated in HD compared with NM.

131 their efficacy in preclinical models and in HD patients.

132 Additional exploration of astrocytes in HD mouse models and humans is needed and may provide new

133 lism and further affecting motor behavior in HD mice, thus constituting a promising agent for HD neur

134 in visual cortex and thalamus in NM, but in HD, increases in precuneus FCD were associated with impr

135 cription is disrupted in peripheral cells in HD through mechanisms that parallel those in brain.

136 he initiation of doxorubicin chemotherapy in HD patients may predict the development of chemotherapy-

137 uggest that reduced cortical connectivity in HD contribute to decline in cognitive abilities associat

138 whereas increased cerebellar connectivity in HD may have compensatory effects on behavioral performan

139 ce given the generalized metabolic defect in HD.

140 gnificant correlation with motor deficits in HD mice.

141 S1P metabolism is significantly disrupted in HD even at early stage of the disease and importantly, w

142 tively, neuroprotective and downregulated in HD mice and patients.

143 ker reflecting early neuronal dysfunction in HD brain, because it can examine multiple brain networks

144 ther delineate the early molecular events in HD, we performed RNA-sequencing (RNA-seq) on striatal ti

145 in cerebellar FCD in NM and thalamus FCD in HD.

146 dy in animal models and clinical findings in HD patients.

147 d into the effect its modulation may have in HD pathology, we investigated the metabolism of Sphingos

148 mpensate for the muscle hyperexcitability in HD.

149 may help explain the motor impersistence in HD patients.

150 these defects suggest a primary myopathy in HD.

151 l disruption initiating neuropathogenesis in HD.

152 ting to non-cell-autonomous neurotoxicity in HD.SIGNIFICANCE STATEMENT Huntington's disease (HD) is c

153 ce support a muscle-based pathophysiology in HD mouse models.

154 ential benefits of targeting this pathway in HD patients.

155 way may be a part of a pathogenic pathway in HD.

156 ional implication for synaptic plasticity in HD remains unclear.

157 nities for monitoring disease progression in HD patients.

158 triatum, the most vulnerable brain region in HD, up to 12 months of age.

159 der, how proteasome activity is regulated in HD affected stem cells and somatic cells remains largely

160 -C risk allele is preferentially retained in HD-ALL blasts consistent with inherited genetic variatio

161 standing of the Htt PTM code and its role in HD pathogenesis.

162 line and arginine increased significantly in HD compared to control sheep.

163 pathways are dysregulated at early stages in HD.

164 stemic metabolism as a therapeutic target in HD.

165 PDH as an interesting therapeutic target in HD.

166 ment of fecal control prevails after TEPT in HD patients during childhood, but symptoms diminish with

167 a 35% prevalence, >/=5.8-fold higher than in HDs/SLE, and significantly higher levels (p < 0.0001).

168 In incident HD patients, 6-months of HD was associated with improvem

169 tiple neurodegenerative disorders, including HD.

170 ified patients according to PCR results into HD, TP, and PCR-negative groups.

171 campal subfield changes), and 4 investigated HD.

172 mRNA is present in fibroblasts from juvenile HD patients and can also be readily detected in the sens

173 ed, comprehensive genetic analysis of larger HD datasets.

174 -hyperdiploid acute lymphoblastic leukaemia (HD-ALL) being the most common subgroup of paediatric ALL

175 integrates molecular interactions with many HD-relevant datasets.

176 d fly models, neurons transfected with mHTT, HD iPSC-derived neurons, and human HD brain regions.

177 This will be of potential use for monitoring HD mouse model disease progression and evaluating precli

178 Transgenic Huntington's disease monkey (HD monkey) model provides great opportunity for studying

179 rotein in peripheral tissues and post-mortem HD brain tissue, as well as in tissues from HD animal mo

180 oinflammatory cytokine IL-6 in primary mouse HD and WT microglia and astrocytes.

181 Similar to HD NPCs, HD-iPSC-derived neurons showed reduced proteasome activi

182 and potentially forestall the appearance of HD-related neurological defects.

183 tified previously as potential biomarkers of HD.

184 1 and mutant HTT aggregates in the brains of HD patients as well as in a murine model that recapitula

185 Many clinical characteristics of HD such as age at motor onset are determined largely by

186 ea levels are elevated in a larger cohort of HD cases, including those with low-level neuropathology

187 The unique configuration of HD 66051 opens up intriguing possibilities for future re

188 es rationalise the functional cooperation of HD-PTP with ESCRT-0, ESCRT-I and ESCRT-III and support a

189 source of sharp polyQ length dependencies of HD.

190 Hu97/18 mice recapitulate the genetics of HD, having two full-length, genomic human HTT transgenes

191 The neuropathological hallmark of HD is the loss of neurons in the striatum and, to a less

192 riate Cox analysis showed that initiation of HD with a catheter (hazard ratio, 5.90; 95%, confidence

193 nontunneled catheters) at the initiation of HD.

194 Whole brain white matter integrity of HD-monkeys was examined longitudinally from 6 to 48 mont

195 cal component of the underlying mechanism of HD.

196 t 2-arachidonoylglycerol in a mouse model of HD.

197 ivin A inhibition in the R6/2 mouse model of HD.

198 ns (SPNs) early in the YAC128 mouse model of HD.

199 Before a motor phenotype, animal models of HD show aberrant cortical-striatal glutamate signaling.

200 ocytoplasmic transport in multiple models of HD, including mouse and fly models, neurons transfected

201 oduce therapeutic benefit in mouse models of HD.

202 d increases survival in two neuron models of HD.

203 on analysis to discover genetic modifiers of HD onset age provided initial evidence for modifier loci

204 utant Htt are likely important modulators of HD pathogenesis.

205 In incident HD patients, 6-months of HD was associated with improvements in LV mass, strain a

206 h the critical length found for the onset of HD and suggests potential therapies based on blocking ea

207 specific quantification assays to a panel of HD lymphoblastoid cell lines, each carrying the major Eu

208 To better understand the pathogenesis of HD, we analyzed proteasome activity and the expression o

209 el that recapitulates the polyQ pathology of HD (R6/2 mice).

210 FIB-4 score is a better predictor of HD and HCC in HCV-positive persons.

211 The primary endpoint was healing rates of HD-CU at 14 days after treatment.

212 onal hazards regression, the hazard ratio of HD in the first 30 days was 2.17 (95% CI, 0.84-5.62) for

213 he rate of recombination, rapid recapture of HD occurs after the molecule is formed, or that the acti

214 ecture of the entire ESCRT binding region of HD-PTP using small angle X-ray scattering and hydrodynam

215 ical mechanism underlying hereditary risk of HD-ALL at 10q21.2.

216 small blood vessels in cervical sections of HD cases.

217 ing BMP activity ameliorates the severity of HD pathology and improves viability.

218 lapped with the transcriptional signature of HD myeloid cells.

219 e post-subiculum, the main cortical stage of HD signal processing, HD neurons convey true spatial inf

220 anges even at the early premanifest stage of HD, which are relevant to the neuropathological mechanis

221 f R6/2 HD mice as well as in the striatum of HD patients.

222 to lessen the debilitating motor symptoms of HD.

223 Treatment of HD is likely to be most beneficial in the early, possibl

224 ortant implications for our understanding of HD pathology and may also have significant therapeutic i

225 Our results indicated that earlier use of HD-araC led to better EFS and OS in AAML0431 than in pas

226 Hu128/21 mice display a wide variety of HD-like phenotypes that are similar to YAC128 mice.

227 final rotational angular momentum vectors of HD provides insight into the strong anisotropic forces p

228 ies found in patients over the first year of HD.

229 b')2 targets was found in 68% (68 of 100) of HDs, 69% (68 of 99) of SLE patients, and 81% (79 of 97)

230 ification of plasma samples to the groups of HDs or AMI patients.

231 Subgroup analysis on HD patients who experienced an infectious hospitalizatio

232 efficacy of oral single-dose azithromycin on HD-CU.

233 We randomly allocated 12 patients on HD (ages 32-72 years old) to either HD or HDF.

234 To facilitate research on HD in a network-oriented manner, we have developed HDNet

235 ls with either adult-onset or juvenile-onset HD.

236 nce in the cardiovascular response to HDF or HD with cooled dialysate as assessed with intradialytic

237 es) and reconstruction algorithms (VUE-point HD [VPHD], VPHD with point-spread-function modeling [VPH

238 olic profiling of plasma from presymptomatic HD transgenic and control sheep.

239 ther amino acids decreased in presymptomatic HD sheep, including branched chain amino acids (isoleuci

240 that can identify 80% of the presymptomatic HD sheep as transgenic, with 90% confidence.

241 main cortical stage of HD signal processing, HD neurons convey true spatial information in the form o

242 related Homeodomain leucine zipper protein (HD-ZIP)-encoding genes: HOMEOBOX PROTEIN 21 (HB21), HOME

243 patients with transplant failure reentering HD.

244 ne the comparative acute effects of standard HD versus hemodiafiltration (HDF) in stable patients.

245 re we report observations of the bright star HD 195689 (also known as KELT-9), which reveal a close-i

246 ranscranial alternating current stimulation (HD-tACS).

247 This TCP/HD-ZIP genetic module seems to be conserved in dicot and

248 opathy rates were higher in the apex LD than HD group.

249 We show that HD-PTP adopts an open and extended conformation, optimal

250 The HD technique can be accepted as an alternative drying te

251 The HD technique reduced drying time and increased drying ra

252 brane helix VI, extracellular loop 3 and the HD play a central role in transmitting the signal employ

253 Following neural differentiation, the HD-iPSC-derived neural progenitor cells (NPCs) demonstra

254 ic human HTT transgenes heterozygous for the HD mutation and polymorphisms associated with HD in popu

255 ic human HTT transgenes heterozygous for the HD mutation and polymorphisms associated with HD in popu

256 the disease progression that leads from the HD mutation to massive cell death in the striatum is the

257 larly SB, promote the activity of PDH in the HD brain, helping to counteract HD-related deficits in m

258 rocytes to decrease exosome secretion in the HD brains, contributing to non-cell-autonomous neurotoxi

259 st significantly dysregulated modules in the HD caudate, the most prominently affected brain region,

260 were 90% in the apex LD group vs 89% in the HD group at 5 and 10 years (P = .96).

261 to the degree of instability observed in the HD signal.

262 However, double mutation of the HD motif only abolished the DNase activity in vitro.

263 hnique, we found that this decoupling of the HD signal in the absence of visual cues caused the anima

264 These results provide evidence that the HD signal plays a causal role as a neural compass in nav

265 tial for DLX3-GCM1 interaction, and that the HD together with the DLX3 amino- or carboxyl-terminal do

266 We demonstrate that the HD-PTP open conformation is functionally competent for b

267 These findings are consistent with the HD mutation affecting structural aspects of the amino-te

268 ntiated into DARPP32-positive neurons, these HD neurons were more susceptible to death than WT neuron

269 educe BMP signaling reduce pathology in this HD model.

270 on factors in three wild-type (WT) and three HD induced-pluripotent stem cell (iPSC) lines.

271 tional and molecular changes contributing to HD pathogenesis.

272 es classified as not healed all converted to HD-negative PCR.

273 NRF2 signaling in key cell types relevant to HD pathology.

274 Similar to HD NPCs, HD-iPSC-derived neurons showed reduced proteaso

275 us were associated with progression in TRACK-HD (MSH3 p=2.94 x 10(-8)DHFR p=8.37 x 10(-7) MTRNR2L2 p=

276 ingle nucleotide polymorphism (SNP) in TRACK-HD (rs557874766) was genome-wide significant in the meta

277 The meta-analysis of progression in TRACK-HD and REGISTRY gave a genome-wide significant signal (p

278 res were correlated with each other in TRACK-HD participants, justifying use of a single, cross-domai

279 The multidomain progression measure in TRACK-HD was associated with a functional variant that was gen

280 In TRACK-HD, each copy of the minor allele at this SNP was associ

281 ticipating in the 3-year international TRACK-HD study.

282 ther (r=0.674), and with age at onset (TRACK-HD, r=0.315; REGISTRY, r=0.234).

283 The TRACK-HD and REGISTRY progression measures were correlated wit

284 measures in the 218 indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers

285 is recommended to treat sexually transmitted HD infections and has good in vitro activity against HD

286 33 patients undergoing HD for <12 months were recruited.

287 e interwoven molecular mechanisms underlying HD.

288 oritize molecular interaction networks using HD-relevant gene expression, phenotypic and other types

289 When HD NPCs were further differentiated into DARPP32-positiv

290 ult mode network regions and thalamus, while HD had higher FCD in cerebellum.

291 D mutation and polymorphisms associated with HD in populations of Caucasian descent.

292 D mutation and polymorphisms associated with HD in populations of East Asian descent and in a minorit

293 olymorphism rs7090445 highly associated with HD-ALL (P=1.54 x 10(-38)), and residing in a predicted e

294 egates and preserves body mass compared with HD mice homozygous for CK2alpha'.

295 ole of the two basic patches elucidated with HD/X measurements, whereas molecular dynamics simulation

296 s the expression pattern seen in humans with HD and may have value in further elucidating pathophysio

297 Sixty symptomatic patients with HD and 15 healthy age-matched control individuals underw

298 and hypermetabolic regions in patients with HD relative to control individuals.

299 Among 60 patients with HD, 22 were women (36.7%), and the mean (SD) age was 44.

300 PSCs and in brain samples from patients with HD.

301 ned in clinical PET studies of patients with HD.