ライフサイエンスコーパス: DMD

1 DMD has no cure and few treatment options.

2 DMD is also associated with cognitive and bone-function

3 DMD is characterized by musculoskeletal and cardiopulmon

4 DMD is characterized by mutations in the dystrophin gene

5 DMD patients exhibit progressive muscle degeneration and

6 DMD patients had apparently lower retention (81.5% versu

7 DMD patients lack the expression of the structural prote

8 DMD trial participants (males, 4 to <7 years at entry) t

9 tions in the TPP1 (tripeptidyl peptidase 1), DMD (dystrophin), SMARCAL1 (SWI/SNF-related, matrix-asso

10 In-frame deletions in BMD and a DMD non-silent mutation (C3340Y) resulted in defects in

11 angeable protons, are sufficient to direct a DMD search for low-energy RNA conformers.

12 are created using the light reflected from a DMD to photochemically initiate atom-transfer radical po

13 functional and histological parameters in a DMD mouse model.

14 onstrate a 20,000 Hz projection rate using a DMD and capture 256-by-256-pixel dynamic scenes at a spe

15 erences (DiD) with patients eligible for ACs/DMD prior to implementation (Jan 1, 2015) for comparison

16 ising approach to therapy, applicable to all DMD patients irrespective to their genetic defect, is to

17 ective treatments and therapies to alleviate DMD symptoms.

18 (p < 10(-7)) in subgroup-specific analyses, DMD on chromosome X, identified in Central Americans, re

19 ed in native locations of the human CTNS and DMD genes whose mutations are responsible for Cystinosis

20 robust binary discriminator of FSHD, DM2 and DMD from controls.

21 rity of milder Becker muscular dystrophy and DMD patients.

22 mimics endogenous dystrophin expression and DMD mutations that disrupt the dystrophin open reading f

23 linic procedures and receive medication; and DMD, in which patients pick up their medication outside

24 evels in mdx muscles, isolated myofibers and DMD immortalized myoblasts.

25 e muscle regeneration, in human myositis and DMD biopsies, and the tubb6 level correlates with that o

26 Recurrent muscle damages in DMD patients and DMD mouse model, mdx, lead to chronic inflammation, whic

27 for diseased CMs' drug response testing and DMD characterization.

28 osis, age at onset younger than 15 years and DMD exposure decreased the risk of a first Expanded Disa

29 Boys afflicted by DMD typically exhibit symptoms within 3-5 years of age a

30 pensate for the lack of dystrophin caused by DMD gene mutations, without the immunogenic concerns ass

31 discrete molecular dynamics simulations (CL-DMD) for the determination of conformational ensemble of

32 In this study, we found comparable DMD outcomes versus standard of care at facilities, a be

33 A sequencing (RNA-seq), the authors compared DMD and control hiPSC-derived cardiomyocytes, mdx mice,

34 ion model including RECPAM classes confirmed DMD exposure as the most protective factor against EDSS-

35 Current DMD gene therapy strategies rely on the expression of in

36 egistered in the Universal Mutation Database-DMD France database.

37 me depletion triggers Dis3l2-mediated decay (DMD) as a surveillance pathway for rRNAs.

38 DIS3L2-mediated decay (DMD) is a surveillance pathway for certain non-coding RN

39 (ACs) and Decentralized Medication Delivery (DMD) for stable patients.

40 phin (group A), and 31 of 42 (74%) developed DMD.

41 s by combining a digital micromirror device (DMD), an air-free reaction chamber, and microfluidics to

42 aging speed as digital micro-mirror devices (DMDs) generate grayscale patterns at a low refreshing ra

43 Current methods for diagnosing DMD are often laborious, expensive, invasive, and typica

44 on developing a novel method for diagnosing DMD which combines Raman hyperspectroscopic analysis of

45 guided all-atom discrete molecular dynamics (DMD) platform, iFoldNMR, for rapid and accurate structur

46 conductance regulator (CFTR) and dystrophin (DMD).

47 Duchenne muscle dystrophy (DMD), characterized by progressive loss of muscle archit

48 Duchenne muscular dystrophy (DMD) affects 1 in 3500 live male births.

49 In Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), interventions

50 in humans with Duchenne Muscular Dystrophy (DMD) and in mouse models including the mdx mouse but wit

51 mity muscles in Duchenne muscular dystrophy (DMD) and showed the feasibility of MRI and (1)H MR spect

52 Duchenne muscular dystrophy (DMD) causes severe disability and death of young men bec

53 ome measures in Duchenne muscular dystrophy (DMD) clinical trials.

54 nts affected by Duchenne muscular dystrophy (DMD) develop a progressive dilated cardiomyopathy charac

55 product of the Duchenne muscular dystrophy (DMD) gene is dystrophin(1), a rod-like protein(2) that p

56 or treatment of Duchenne muscular dystrophy (DMD) has led to clinical trials that include pulmonary e

57 Duchenne muscular dystrophy (DMD) is a debilitating X-linked disorder that is fatal.

58 Duchenne muscular dystrophy (DMD) is a devastating neuromuscular disease that causes

59 Duchenne muscular dystrophy (DMD) is a devastating X-linked disease affecting ~1 in 5

60 Duchenne muscular dystrophy (DMD) is a fatal genetic disorder caused by mutations in

61 Duchenne muscular dystrophy (DMD) is a fatal muscle disorder characterized by cycles

62 Duchenne muscular dystrophy (DMD) is a fatal muscle-wasting disease arising from muta

63 Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disease caused by deleteri

64 Duchenne muscular dystrophy (DMD) is a fatal X-linked disorder caused by nonsense or

65 Duchenne muscular dystrophy (DMD) is a genetic disorder caused by loss of the protein

66 Duchenne Muscular Dystrophy (DMD) is a lethal muscle disorder, caused by mutations in

67 Duchenne muscular dystrophy (DMD) is a lethal neuromuscular disorder caused by loss o

68 Duchenne muscular dystrophy (DMD) is a lethal, muscle degenerative disease causing pr

69 Duchenne muscular dystrophy (DMD) is a lethal, X-linked disease characterized by prog

70 Duchenne muscular dystrophy (DMD) is a monogenic disorder and a candidate for therape

71 Duchenne muscular dystrophy (DMD) is a muscular dystrophy with high incidence of lear

72 Duchenne muscular dystrophy (DMD) is a neuromuscular disease that predominantly affec

73 Duchenne muscular dystrophy (DMD) is a progressive muscle disease, characterized by m

74 Duchenne muscular dystrophy (DMD) is a rare genetic disease affecting 1 in 3500-5000

75 Duchenne Muscular Dystrophy (DMD) is a severe muscle disorder caused by lack of dystr

76 Duchenne muscular dystrophy (DMD) is a severe X-linked neuromuscular disorder that af

77 Duchenne muscular dystrophy (DMD) is a severe, progressive, and rare neuromuscular, X

78 Duchenne muscular dystrophy (DMD) is a uniformly fatal condition of striated muscle w

79 rdiomyopathy of Duchenne muscular dystrophy (DMD) is an important cause of morbidity and mortality in

80 Duchenne muscular dystrophy (DMD) is an incurable X-linked muscle-wasting disease cau

81 Duchenne muscular dystrophy (DMD) is an X-linked disorder with dystrophin loss that r

82 Duchenne muscular dystrophy (DMD) is an X-linked genetic disease characterized by pro

83 Duchenne muscular dystrophy (DMD) is an X-linked, lethal muscle degenerative disease

84 Duchenne muscular dystrophy (DMD) is caused by loss of dystrophin in muscle, and whil

85 Duchenne muscular dystrophy (DMD) is caused by loss of dystrophin protein, leading to

86 Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene leading to t

87 Duchenne muscular dystrophy (DMD) is characterized by muscle degeneration and progres

88 Duchenne muscular dystrophy (DMD) is characterized by progressive skeletal muscle deg

89 Duchenne muscular dystrophy (DMD) is the most common and severe form of muscular dyst

90 Patients with Duchenne muscular dystrophy (DMD) lack the protein dystrophin, which is a critical mo

91 cy for heart in Duchenne muscular dystrophy (DMD) models but also improve skeletal muscle force and m

92 ted with severe Duchenne muscular dystrophy (DMD) or milder Becker muscular dystrophy (BMD).

93 n the muscle of Duchenne muscular dystrophy (DMD) patients and animal models.

94 recommended for Duchenne muscular dystrophy (DMD) patients to slow the progression of weakness.

95 e treatment for Duchenne muscular dystrophy (DMD) patients, but various adverse effects have limited

96 nt FSHD, DM2 or Duchenne muscular dystrophy (DMD) studies compared to control biopsies, and on meta-a

97 e treatment for Duchenne muscular dystrophy (DMD), a lethal monogenic disorder caused by the loss of

98 ic strategy for Duchenne muscular dystrophy (DMD), employing morpholino antisense oligonucleotides (P

99 use of death in Duchenne muscular dystrophy (DMD), limited studies and therapies have emerged for dys

100 use, a model of Duchenne muscular dystrophy (DMD), microtubules are mostly disordered, without period

101 ic strategy for Duchenne muscular dystrophy (DMD), which should be applicable to all patient populati

102 he treatment of Duchenne muscular dystrophy (DMD).

103 ic approach for Duchenne muscular dystrophy (DMD).

104 d subjects with Duchenne muscular dystrophy (DMD).

105 scle wasting in Duchenne muscular dystrophy (DMD).

106 nical trials in Duchenne muscular dystrophy (DMD).

107 progression of Duchenne muscular dystrophy (DMD).

108 mouse model of Duchenne muscular dystrophy (DMD); however, a mechanistic understanding of this assoc

109 ent affected by Duchenne Muscular Dystrophy (DMD, complete loss of dystrophin expression).

110 mouse model of Duchenne Muscular Dystrophy [DMD]) could restore the morphology of their previously d

111 MS and supports a protective effect of early DMD treatment in preventing MS development and disabilit

112 QBA performed similarly to GSL (eg, DMD boys > 7 years old: 0.41dB/mo, p = 0.01, 95% CI = 0.

113 Sequencing of nascent RNA to explore DMD transcription dynamics revealed a lower rate of DMD

114 Female DMD carrier hearts can shed light on this question, due

115 For DMD, 232 intervention and 346 control patients were enro

116 For DMD, randomization was not preserved, and the analysis w

117 making it a potential therapeutic agent for DMD.

118 tion is a promising therapeutic approach for DMD.

119 hin expression as a therapeutic approach for DMD.

120 Among various treatments available for DMD, antisense oligonucleotides (ASOs) mediated exon ski

121 n of serum MMP-9 as predictive biomarker for DMD patients.

122 To date, there is no effective cure for DMD, and the identification of novel molecular targets i

123 Extensive biomarker discoveries for DMD have occurred in the past 7 years, and a vast array

124 atment and improving the quality of life for DMD patients.

125 D2.mdx as a superior small animal model for DMD, as compared to the B10.mdx model.

126 e muscle function in the mdx mouse model for DMD.

127 here represent potential starting points for DMD drug discovery efforts.

128 me, a distinctive beating-force relation for DMD CMs was measured on the 3D cardiac in vitro model.

129 tients) and sustained viral suppression (for DMD patients) among men.

130 To explore and define therapies for DMD cardiomyopathy, the authors used DMD patient-specifi

131 tion as a dystrophin replacement therapy for DMD.

132 ent in developing an effective treatment for DMD.

133 for developing more effective treatments for DMD.

134 ation is sufficient to rescue the heart from DMD-related pathology.

135 can cause a shift in disease phenotype from DMD toward BMD.

136 muscle fibers in muscle biopsy samples from DMD patients expressed PDGF-BB.

137 lso observed in muscle biopsy specimens from DMD, Ullrich CMD, and merosin-deficient CMD patients, al

138 ors suitable for progression toward a future DMD therapy.

139 arthritis, could also be exploited in future DMD therapies.

140 so undertook transcriptome analysis of human DMD left ventricle samples and found that DMD hiPSC-deri

141 e dysregulated pathways similar to the human DMD heart.

142 In humans, DMD has early onset, causes developmental delays, muscle

143 ome, the biological significance of impaired DMD is obscure and pathological RNAs have not been ident

144 tatin exon skipping therapy greatly improved DMD pathology, compared to the single dystrophin skippin

145 n muscle biogenesis, the role of miR-133b in DMD remains unknown.

146 venting heart dysfunction and arrhythmias in DMD patients.

147 igate cardiac dysfunction and arrhythmias in DMD patients.

148 velopmental myosin as a disease biomarker in DMD clinical trials.

149 Recurrent muscle damages in DMD patients and DMD mouse model, mdx, lead to chronic i

150 , to summarize published respiratory data in DMD and give guidance to clinical researchers assessing

151 y failure, the most common cause of death in DMD.

152 te the mechanism responsible for the drop in DMD expression levels in the presence of PTC.

153 biomarker for beneficial exercise effect in DMD.

154 drug that has shown evidence of efficacy in DMD after 24 weeks of treatment at 2.0 or 6.0 mg/kg/day.

155 ecies (ROS) metabolism are an early event in DMD onset and they are tightly linked to inflammation, f

156 ver RNPs to restore dystrophin expression in DMD mice and significantly decrease serum PCSK9 level in

157 vector by restoring dystrophin expression in DMD myoblasts, where dystrophin was expressed at the sar

158 Importantly, normal thymic expression in DMD patients(6) should protect utrophin by central immun

159 MD does not normalize DMD gene expression in DMD.

160 To assess miR-133b function in DMD-affected skeletal muscles, we genetically ablated mi

161 s may improve muscle quality and function in DMD.

162 Compared to healthy boys, increasing GSL in DMD boys >7.0 years old was first identified at 6 months

163 givinostat caused a significant increase in DMD transcript expression in mdx mice.

164 osylation levels, however, were increased in DMD.

165 have shown reduced DMD transcript levels in DMD patient and animal model muscles when PTC are presen

166 vidence of target engagement was observed in DMD patients after 24 weeks of treatment, however trial

167 vere and more similar to the one observed in DMD patients, the effect of the combined therapy is slig

168 ct of interventions on pulmonary outcomes in DMD.

169 me measure was the involvement of the PDL in DMD and its confirmation by histology.

170 otype is a modifier of clinical phenotype in DMD patients.

171 e major ventricular gap junction protein, in DMD cardiomyopathy.

172 ed 108 elevated and 70 decreased proteins in DMD relative to age matched healthy controls (p value <

173 GC treatment to a mitochondrial response in DMD.

174 implicated in muscle biogenesis, its role in DMD remains unknown.

175 ials of rAAV-microdystrophin gene therapy in DMD patients.

176 logic effects of glucocorticoid treatment in DMD.

177 of anti-inflammatory drugs commonly used in DMD patients.

178 therapy to alleviate the muscle weakness in DMD patients.

179 on approach and support its translation into DMD clinical trials.

180 Mechanistically, DMD functions in the quality control of the 7SL ncRNA co

181 The purpose of this study was to model DMD cardiomyopathy using DMD patient-specific human indu

182 43 serines S325/S328/S330 in human and mouse DMD hearts.

183 of DMD carriers via injection of mdx (murine DMD) embryonic stem cells (ESCs) into wild-type (WT) bla

184 to exclude disruptive exons from the mutant DMD transcript and elicit production of truncated dystro

185 Boys aged 7-16 years with nonsense mutation DMD and a baseline 6-minute walk distance (6MWD) of 150

186 en in ambulatory boys with nonsense mutation DMD.

187 Serum samples from 39 steroid-naive DMD boys 4 to <7 years enrolled into a clinical trial of

188 ents with intronic, splice site, or nonsense DMD mutations, with available muscle biopsy Western blot

189 hat the inhibition of NMD does not normalize DMD gene expression in DMD.

190 odel for evaluating cardiac benefit of novel DMD therapeutics.

191 he use of hyperbaric therapies, which 14% of DMD patients self-report using.

192 ing different strategies for amelioration of DMD pathogenesis.

193 To enable the non-invasive analysis of DMD gene correction strategies in vivo, we introduced a

194 ble to compensate for the primary defects of DMD restoring sarcolemmal stability.

195 es of a cohort of 41 cases with diagnosis of DMD from 4 centers were studied.

196 a strong potential for clinical diagnosis of DMD.

197 -133b to mitigate the deleterious effects of DMD.

198 Subsequent treatment of this group of DMD patients with glucocorticoids affected two major gro

199 re well-documented pathological hallmarks of DMD.

200 A human DMRT homolog of DMD-4 is controlled in a similar manner, indicating that

201 eins in resting hearts from a mouse model of DMD (dmd(mdx):utrn(+/-)).

202 Using a mouse model of DMD cardiomyopathy in which phosphomimetic glutamic acid

203 We generated a symptomatic mouse model of DMD carriers via injection of mdx (murine DMD) embryonic

204 we describe the creation of a mouse model of DMD caused by deletion of exon 51 of the dystrophin gene

205 in vivo by treating the mdx murine model of DMD with repeated i.m. injections of PDGF-BB.

206 d hearts of mdx mice (murine animal model of DMD) and cardiomyocytes derived from induced pluripotent

207 AAV-cMD1 delivery in a large animal model of DMD, and pave the way towards clinical trials of rAAV-mi

208 ncreased in the muscle of the mouse model of DMD, the mdx mouse, and that pharmacological inhibition

209 y ablated miR-133b in the mdx mouse model of DMD.

210 tional improvement in the mdx mouse model of DMD.

211 unction of the mdx mouse, a genetic model of DMD.

212 iever muscular dystrophy (GRMD) dog model of DMD.

213 double mutant (mdx:utr (-/-)) mouse model of DMD.

214 ing dystrophin correction in mouse models of DMD and offer a platform for testing different strategie

215 of two different dystrophic mouse models of DMD, which are on different genetic backgrounds, the C57

216 decrease in moesin levels in the muscles of DMD and CMD mice.

217 ill improve the histopathology of muscles of DMD patients and restore skeletal muscle function.

218 iomarkers that reflect the complex nature of DMD pathogenesis and response to glucocorticoids.

219 er characterization of the neuropathology of DMD.

220 bitors may ameliorate the pathophysiology of DMD.

221 We show that performance of DMD boys was effectively modeled with serum proteins, pr

222 133b exacerbates the dystrophic phenotype of DMD-afflicted skeletal muscle by dysregulating muscle st

223 gans recapitulate many salient phenotypes of DMD, including loss of mobility and muscle necrosis.

224 vel, which is also elevated in the plasma of DMD patients in comparison with age-matched controls, is

225 nscription dynamics revealed a lower rate of DMD transcription in patient-derived myotubes compared t

226 Sex-specificity of DMD-4 function is conferred by a novel mode of posttrans

227 of muscle progenitor cells for treatment of DMD has been widely investigated; however, its applicati

228 new therapeutic targets for the treatment of DMD.

229 a novel protein therapy for the treatment of DMD.

230 -ERB is a potent target for the treatment of DMD.

231 e study in relation to etiology and types of DMD is needed.

232 Three types of DMD were identified: type 1, where the PDL and DM were d

233 insights into the molecular underpinnings of DMD, controlled by the transcriptional activity of diffe

234 t significantly changes our understanding of DMD and could have implications for management.

235 in the only drugs with a favorable impact on DMD patients, but not without side effects.

236 ssion (<400 copies/mL) 12 months after AC or DMD enrollment (or comparable time for controls).

237 ervention sites to those eligible for ACs or DMD at control sites.

238 -approved compound, Sunitinib, as a possible DMD therapeutic with the potential to treat other muscul

239 ign of preclinical evaluations for potential DMD therapeutics.

240 Preclinical efforts to identify potential DMD therapeutics have been hampered by lack of a small a

241 ared those participating in ACs or receiving DMD at intervention sites to those eligible for ACs or D

242 ranscriptional mechanism involved in reduced DMD transcript levels.

243 s transcriptional studies have shown reduced DMD transcript levels in DMD patient and animal model mu

244 As a result, DMD patients exhibit ongoing cycles of muscle destructio

245 Seven DMD boys were initiated on corticosteroids; these data w

246 seline and following adrenergic stimulation, DMD hiPSC-derived cardiomyocytes had a significant incre

247 e suggest that Cx43 reduction in symptomatic DMD carrier mice leads to prevention of Cx43 remodeling

248 Medications that target DMD cardiac fibrosis are in the early stages of developm

249 an DMD left ventricle samples and found that DMD hiPSC-derived cardiomyocytes have dysregulated pathw

250 itionally, in situ hybridization showed that DMD messenger RNA primarily localizes in the nuclear com

251 show that transcription dynamics across the DMD locus are affected by the presence of PTC, hinting a

252 issing data and lack of randomization in the DMD analysis.

253 muscle disorder, caused by mutations in the DMD gene and affects approximately 1:5000-6000 male birt

254 Out-of-frame mutations in the DMD gene can be modified by using antisense oligonucleot

255 ystrophy (DMD) is caused by mutations in the DMD gene leading to the presence of premature terminatio

256 sease caused by deleterious mutations in the DMD gene which encodes the dystrophin protein.

257 It is due to mutations in the DMD gene with a consequent lack of dystrophin protein th

258 d by nonsense or frameshift mutations in the DMD gene.

259 r, whether and how TIPE2 plays a role in the DMD-related inflammation remains unknown.

260 linked disease results from mutations of the DMD allele on the X-chromosome resulting in the loss of

261 AAV vectors to edit specific regions of the DMD gene using CRISPR/Cas9.

262 in dystrophin caused by mutations within the DMD gene.

263 Thus, DMD is required to safeguard ER-targeted mRNA translatio

264 e unlikely to provide therapeutic benefit to DMD patients.

265 ted myofiber might respond differentially to DMD pathogenesis is unknown.

266 s that are symptomatic and unspecific toward DMD disease.

267 d for intervention with AR agonists to treat DMD-affected boys.

268 ) vectors is an attractive strategy to treat DMD.

269 roenvironment can be a new approach to treat DMD.

270 Outcomes in vamorolone-treated DMD patients (n = 46) were compared to group-matched par

271 fficient therapeutic approaches for treating DMD patients.

272 s utrophin offers great promise for treating DMD, as it can functionally compensate for the lack of d

273 biquitination at Lys 3584 (referred to as Ub-DMD) and its subsequent protein degradation.

274 interact with H19, which caused elevated Ub-DMD levels and dystrophin degradation.

275 urrently reduced dystrophin and increased Ub-DMD status.

276 provide evidence that miR-133b may underlie DMD pathology by affecting the proliferation and differe

277 nerative transcriptional pathways underlying DMD pathogenesis.

278 ies for DMD cardiomyopathy, the authors used DMD patient-specific hiPSC-derived cardiomyocytes to exa

279 study was to model DMD cardiomyopathy using DMD patient-specific human induced pluripotent stem cell

280 r structure of muscle fibers and, along with DMD, forms part of the dystrophin-glycoprotein complex.

281 serum proteins that were not associated with DMD and either decreased or increased following treatmen

282 17 serum proteins that were associated with DMD and these tended to normalize under treatment, thus

283 bute to the muscle pathology associated with DMD, we performed single-nucleus transcriptomics of skel

284 6 unilateral arm/leg muscles in 36 boys with DMD and 28 healthy boys (age = 2-14 years) for up to 2 y

285 In this nonblinded study, 36 boys with DMD and 29 age-similar healthy boys underwent multifrequ

286 benefit of motor function in young boys with DMD treated with vamorolone 2.0 to 6.0 mg/kg/day, with a

287 mbulatory and nonambulatory individuals with DMD; compare upper and lower extremity muscles by using

288 s study evaluated 119 male participants with DMD (mean age, 12 years +/- 3 [standard deviation]) and

289 nt data were acquired from participants with DMD and unaffected control participants at three centers

290 muscles were different in participants with DMD versus control participants in all age groups by usi

291 er a wide range of ages in participants with DMD.

292 riod of 18 months in trial participants with DMD.

293 lecular and clinical data from patients with DMD mutations registered in the Universal Mutation Datab

294 Of 3,880 patients with DMD mutations, 90 with mutations of interest were includ

295 delayed clinical milestones in patients with DMD mutations.

296 determined that relatively few patients with DMD see a cardiovascular specialist or receive beta-bloc

297 uced pluripotent stem cells of patients with DMD.

298 scue dilated cardiomyopathy in patients with DMD.

299 no effective therapy for most patients with DMD.

300 technology and focusing on a subset of young DMD patients who were not yet treated with glucocorticoi