ライフサイエンスコーパス: DMD

1 DMD does not incur more severe mitral regurgitation, des

2 DMD dogs tolerated injection well and their growth was n

3 DMD is characterized by musculoskeletal and cardiopulmon

4 DMD muscle pathogenesis is characterized by chronic infl

5 DMD patients lack the expression of the structural prote

6 DMD was noted 3 days later (approximately 3 weeks post-o

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

8 Since 1975, 10 DMD newborn screening programs have provided opportuniti

9 total n = 660), establishing this locus as a DMD modifier.

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

11 stem cells derived from skeletal muscle of a DMD patient (mdcs) transplanted into an immunodeficient

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

13 sease modifying therapeutic strategy for all DMD patients irrespective of their dystrophin mutation.

14 lex may have therapeutic application for all DMD patients, regardless of their dystrophin mutation.

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

16 Ambulatory DMD patients who were >/=7 years old and amenable to exo

17 hed critical light on dystrophin biology and DMD pathogenesis, but also provide a foundation for rati

18 Our novel observations show that FED and DMD, although both labeled myxomatous, display considera

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

20 -binding protein 4) have been established as DMD modifiers.

21 X-linked dilated cardiomyopathy, as well as DMD and BMD female carriers.

22 -30 in myotubes of an individual affected by DMD produced full-length dystrophin.

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

24 zed protocols for all patients identified by DMD NBS, longitudinal follow-up in multidisciplinary cli

25 missense mutations, L54R and L172H, causing DMD and BMD, respectively, in full-length dystrophin.

26 Like CF, DMD, SMA, and infantile AMD are inexorably debilitating

27 re consistent in both cohorts when comparing DMD patients and healthy volunteers at a 1% false-discov

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

29 To correct DMD by skipping mutant dystrophin exons in postnatal mus

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

31 and profoundly abnormal dynamics demonstrate DMD-specific annular degeneration compared with the enla

32 Descemet membrane detachment (DMD) is a significant complication noted during or early

33 strument using a digital micromirror device (DMD) to allow software selection of the spatial offsets.

34 kes use of three digital micromirror device (DMD)-based spatial light modulators (SLMs) to generate s

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

36 ects produced on motor function by different DMD genotypes and early initiation of glucocorticoids.

37 spectively), whereas disease-modifying drug (DMD) exposure reduced this risk (HR, 95% CI = 0.75, 0.60

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

39 Here, we use discrete molecular dynamics (DMD) simulations and high-throughput dynamic light scatt

40 d pathology following exercise in dystrophic DMD mice.

41 uchenne and congenital muscular dystrophies (DMD and CMD, respectively) and dysferlinopathy, but not

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

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

44 pathies include Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), X-linked dilat

45 ta in boys with Duchenne muscular dystrophy (DMD) and healthy controls to determine whether ultrasoun

46 n a multiethnic Duchenne muscular dystrophy (DMD) cohort.

47 rmed in newborn Duchenne muscular dystrophy (DMD) dogs.

48 on genotypes of Duchenne muscular dystrophy (DMD) due to different fluorescent intensities.

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

50 Duchenne muscular dystrophy (DMD) impacts 1 : 3500 boys and leads to muscle dysfuncti

51 l therapies for Duchenne Muscular Dystrophy (DMD) in clinical trials.

52 aim to convert Duchenne muscular dystrophy (DMD) into less severe Becker muscular dystrophy (BMD) by

53 Duchenne muscular dystrophy (DMD) is a candidate for the recommended universal screen

54 Duchenne muscular dystrophy (DMD) is a classical monogenic disorder, a model disease

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

56 Duchenne muscular dystrophy (DMD) is a devastating disease affecting about 1 out of 5

57 Duchenne muscular dystrophy (DMD) is a fatal X-linked disorder caused by mutations in

58 Duchenne muscular dystrophy (DMD) is a genetic disease characterized by progressive m

59 Duchenne muscular dystrophy (DMD) is a genetic disorder that causes progressive muscl

60 Duchenne muscular dystrophy (DMD) is a genetic neuromuscular disorder caused by the a

61 Duchenne muscular dystrophy (DMD) is a lethal muscle disease involving progressive lo

62 Duchenne muscular dystrophy (DMD) is a lethal, degenerative muscle disease with no ef

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

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

65 Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disease, caused by a

66 Duchenne muscular dystrophy (DMD) is a severe and progressive muscle-wasting disease

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

68 Duchenne muscular dystrophy (DMD) is a severe, degenerative muscle disease caused by

69 Duchenne muscular dystrophy (DMD) is a severe, degenerative muscle disease that is co

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

71 Duchenne muscular dystrophy (DMD) is an incurable X-linked genetic disease that is ca

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

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

74 Duchenne muscular dystrophy (DMD) is an X-linked progressive degenerative disease res

75 Duchenne muscular dystrophy (DMD) is an X-linked recessive disease caused by mutation

76 Duchenne Muscular Dystrophy (DMD) is caused by a lack of dystrophin expression in pat

77 Duchenne muscular dystrophy (DMD) is caused by absence of the integral structural pro

78 Duchenne muscular dystrophy (DMD) is caused by dystrophin deficiency.

79 Duchenne muscular dystrophy (DMD) is caused by mutations in the dystrophin gene that

80 Duchenne muscular dystrophy (DMD) is characterised by progressive muscle weakness.

81 Duchenne muscular dystrophy (DMD) is characterized by a progressive loss of muscle fi

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

83 Duchenne muscular dystrophy (DMD) is the most common inherited muscle disease, leadin

84 ing activity in Duchenne muscular dystrophy (DMD) mdx mice.

85 le pathology in Duchenne muscular dystrophy (DMD) mouse models.

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

87 in the serum of Duchenne Muscular Dystrophy (DMD) patients and dystrophic mouse models and consequent

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

89 sent in sera of Duchenne muscular dystrophy (DMD) patients, limb-girdle muscular dystrophy type 2D (L

90 ation of ApN in Duchenne muscular dystrophy (DMD) using mdx mice, a model of DMD, and by generating t

91 progression of Duchenne muscular dystrophy (DMD), a degenerative muscle disorder caused by mutations

92 ood efficacy in Duchenne muscular dystrophy (DMD), a genetic muscle-wasting disease.

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

94 mouse models of Duchenne muscular dystrophy (DMD), a neurogenetic disease typically caused by frame-s

95 ns that lead to Duchenne muscular dystrophy (DMD), a recessive X-linked form of muscular dystrophy.

96 Duchenne muscular dystrophy (DMD), caused by mutations at the dystrophin gene, is the

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

98 ic mutation: in Duchenne muscular dystrophy (DMD), for instance, age at loss of ambulation (LoA) vari

99 l therapies for Duchenne muscular dystrophy (DMD), it is fundamental to understand the natural histor

100 In Duchenne muscular dystrophy (DMD), loss of dystrophin leads to the mislocalization of

101 iseases such as Duchenne muscular dystrophy (DMD), microtubule alterations drive elevated X-ROS, disr

102 all weakness in Duchenne muscular dystrophy (DMD), occurs as a result of contraction-induced muscle d

103 associated with Duchenne Muscular Dystrophy (DMD), the molecular and cellular mechanisms responsible

104 seases, such as Duchenne muscular dystrophy (DMD), which is caused by mutations in the dystrophin gen

105 eterioration in Duchenne muscular dystrophy (DMD).

106 bsence leads to Duchenne muscular dystrophy (DMD).

107 ase modifier in Duchenne muscular dystrophy (DMD).

108 e treatment for Duchenne muscular dystrophy (DMD).

109 ans of treating Duchenne Muscular Dystrophy (DMD).

110 tion, and cause Duchenne muscular dystrophy (DMD).

111 ice, a model of Duchenne muscular dystrophy (DMD).

112 ions that cause Duchenne muscular dystrophy (DMD).

113 d subjects with Duchenne muscular dystrophy (DMD).

114 scle wasting in Duchenne muscular dystrophy (DMD).

115 nical trials in Duchenne muscular dystrophy (DMD).

116 se for treating Duchenne muscular dystrophy (DMD).

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

118 rophin and muscle degeneration seen in early DMD.

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

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

121 making it a potential therapeutic agent for DMD.

122 a novel non-viral gene therapy approach for DMD using PB transposons underscoring their potential to

123 tion is a promising therapeutic approach for DMD.

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

125 for the use of ex-myomiRs as biomarkers for DMD disease progression and monitoring response to thera

126 There is currently no cure for DMD although various promising approaches are progressin

127 There is no cure for DMD and current therapeutic approaches to restore dystro

128 onally engineering minimized dystrophins for DMD gene therapy.

129 21 patients had false-negative findings for DMD.

130 efficacy of quercetin as an intervention for DMD in skeletal muscle, and also indicate the developmen

131 studying a Caenorhabditis elegans model for DMD, we show here that dystrophin-dependent muscle degen

132 eans of correcting mutations responsible for DMD and other monogenic disorders after birth.

133 Screening for DMD will result in identification of other muscle diseas

134 ting that Jagged1 may represent a target for DMD therapy in a dystrophin-independent manner.

135 activation, a recent therapeutic target for DMD, and less oxidative stress.

136 ive assessment of experimental therapies for DMD and other neuromuscular disorders.

137 , and for evaluating potential therapies for DMD.

138 valuable for testing potential therapies for DMD.

139 may provide an unexpected, novel therapy for DMD and related neuromuscular diseases.

140 eting COUP-TFII is a potential treatment for DMD.

141 ent in developing an effective treatment for DMD.

142 med proteome profiling of serum samples from DMD and IBD patients with and without corticosteroid tre

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

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

145 ctional behavior, as engineered tongues from DMD myoblasts failed to achieve the same contractile str

146 ng has implications for the design of future DMD trials with the 6-minute walk test as the endpoint.

147 10(-8)) in the intron of the dystrophin gene DMD (X chromosome), and a suggestive locus on chromosome

148 male patients included in the study, 70 had DMD (92%) and 6 had BMD (8%); mean (SD) age at baseline

149 orithms to evaluate patients who do not have DMD gene mutations but may have another muscle disorder

150 s were markedly increased in mouse and human DMD heart tissues examined.

151 cles in the mdx mouse model of DMD and human DMD lymphoblasts.

152 evere mdx:utr mouse models of DMD, and human DMD tissues, Cx43 was found to be pathologically misloca

153 ns, similar to the lesions observed in human DMD, in comparison to young-adult (3-month-old) mdx mice

154 In DMD, the annular increased size and profoundly abnormal

155 muscle may be therapeutically beneficial in DMD and other muscle diseases characterized by the loss

156 es to be further evaluated as a biomarker in DMD clinical therapeutic trials.

157 in the etiology of dilated cardiomyopathy in DMD and identify a window of opportunity for preventive

158 ely mimics the pathophysiological changes in DMD muscles.

159 tant for the late onset of cardiac damage in DMD.

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

161 ISPR/Cas9-mediated deletion shown to date in DMD.

162 , which is the predominant cause of death in DMD patients, and highlights the importance of therapeut

163 osis, a major cause of functional decline in DMD.

164 ular subpopulation has not been described in DMD patients or in mdx mice, a widely used mouse model f

165 sments for detecting muscle deterioration in DMD.

166 skeletal muscle and pulmonary dysfunction in DMD.

167 diated amelioration of muscular dystrophy in DMD mice is dependent on the presence of both utrophin a

168 Following gene editing in DMD patient myoblasts, dystrophin expression is restored

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

170 s may improve muscle quality and function in DMD.

171 contributes to therapeutic effects of GCs in DMD through proergogenic metabolic programming.

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

173 in the vicinities of 384 genes implicated in DMD-related pathways, i.e., the nuclear-factor-kappaB an

174 osylation levels, however, were increased in DMD.

175 e fragility is known to potentiate injury in DMD, whether muscle stem cells are implicated in deficie

176 n average, annular dimensions were larger in DMD versus FED, but height was similar resulting in lowe

177 orrect cognitive impairment and bone loss in DMD model mice.

178 l period are the initial screening marker in DMD newborn screening programs but is found in inherited

179 rs crucial in assessing genetic modifiers in DMD.

180 Mutations in DMD disrupt the reading frame, prevent dystrophin transl

181 osely recapitulate the phenotype observed in DMD patients compared with the mdx mouse.

182 ct of interventions on pulmonary outcomes in DMD.

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

184 to detect subclinical disease progression in DMD, even within short (3-6 months) time periods.

185 A fundamental question in DMD pathogenesis and dystrophin gene therapy is whether

186 presents a promising therapeutic strategy in DMD, it is important to determine whether SSPN can be in

187 might serve as a new therapeutic strategy in DMD.

188 echanism and potential therapeutic target in DMD.

189 We conclude that in DMD patients with Delta45, skipping of exon 44 and multi

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

191 scular junction, is naturally upregulated in DMD muscle, which partially compensates for the loss of

192 m of the mdx mouse with potential utility in DMD patients.

193 ted this association in multiple independent DMD cohorts (United Dystrophinopathy Project, Bio-NMD, a

194 tified in serum samples from two independent DMD cohorts: cohort 1 (The Parent Project Muscular Dystr

195 t safe and bodywide AAV delivery in juvenile DMD dogs.

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

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

198 en in ambulatory boys with nonsense mutation DMD.

199 ms, 80 patients had positive results for non-DMD disorders, including Becker muscular dystrophy and f

200 s when possible to identify diagnoses of non-DMD disorders and false negative results from 1975 to Ju

201 a CRISPR/Cas9 platform applicable to 60% of DMD patient mutations.

202 genome editing approach applicable to 60% of DMD patients with CRISPR/Cas9 using one pair of guide RN

203 large deletion that can correct up to 62% of DMD mutations.

204 eutic avenues for ameliorating the burden of DMD and, we hope, other rare and devastating diseases.

205 Although the genetic cause of DMD is well known, the molecular pathogenesis of disease

206 ly with diaphragm fibrosis, a major cause of DMD muscle weakness.

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

208 mportant implications for the development of DMD exon-skipping therapy.

209 the initial screening, with the diagnosis of DMD based on findings of clinical follow-up, muscle biop

210 Moreover, removal of a duplication of DMD exons 18-30 in myotubes of an individual affected by

211 e most closely recapitulates key features of DMD muscles, including progressive fibrosis and consider

212 and in vivo it protects against hallmarks of DMD, including workload-induced arrhythmias and contract

213 el insight on the current natural history of DMD, which will be instrumental for the design of future

214 orrect the reading frame for the majority of DMD patients.

215 s, we propose that splicing misregulation of DMD exon 78 compromises muscle fibre maintenance and con

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

217 e death of muscles in the mdx mouse model of DMD and human DMD lymphoblasts.

218 klotho gene occurs in the mdx mouse model of DMD and whether klotho silencing is an important feature

219 RISPR)-Cas9 system to the mdx mouse model of DMD to remove the mutated exon 23 from the dystrophin ge

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

221 r dystrophy (DMD) using mdx mice, a model of DMD, and by generating transgenic mdx mice overexpressin

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

223 In the mdx mouse model of DMD, the pharmacological reduction of detyrosination in

224 anted into an immunodeficient mouse model of DMD, we report that two novel dystrophin constructs, C1

225 njury or in muscle from mdx mice, a model of DMD.

226 hy in a dystrophin-deficient murine model of DMD.

227 trophin expression in the mdx mouse model of DMD.

228 e mdx mouse is a widely used animal model of DMD.

229 components to postnatal mdx mice, a model of DMD.

230 herapeutic effects in the mdx mouse model of DMD.

231 tibialis anterior of the mdx mouse model of DMD.

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

233 Ca(2+) influx in young mdx mice, a model of DMD.

234 mild mdx and severe mdx:utr mouse models of DMD, and human DMD tissues, Cx43 was found to be patholo

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

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

237 al compensatory role of tissue redundancy of DMD (or aggravating role of tissue paucity of FED) on mi

238 Here we show that the abnormal splicing of DMD exon 78 found in dystrophic muscles of DM1 patients

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

240 these disorders with particular emphasis on DMD NBS, because of the likely approval of new gene-modi

241 Delayed-onset DMD should be considered as a differential diagnosis in

242 rature revealed a few cases of delayed-onset DMD with presentation ranging from weeks to months after

243 ng incision with air tamponade in late-onset DMD cases not responding to pneumatic descemetopexy.

244 Our DMD simulations suggest that the aggregation inhibition

245 On this platform, DMD myoblasts formed fewer and smaller myotubes and exhi

246 c overexpression of alpha7 integrin prevents DMD disease in mice and is accompanied by increased abun

247 the U-shape protofilaments from our PRIME20/DMD simulation agree well with those from solid state NM

248 sense oligonucleotides (AOs) are a promising DMD therapy, restoring functional dystrophin protein by

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

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

251 mice, a widely used mouse model for studying DMD.

252 und in inherited muscle disorders other than DMD.

253 We and others have demonstrated that DMD mutations alter ATP signaling and have identified P2

254 We hypothesized that DMD myoblasts are less sensitive to cues in the extracel

255 ted whether ablation of P2RX7 attenuates the DMD model mouse phenotype to assess receptor suitability

256 Frame-disrupting mutations in the DMD gene, encoding dystrophin, compromise myofiber integ

257 were subject to forced exercise to model the DMD cardiac phenotype.

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

259 The exons of the DMD gene were taken as the model analytes for genetic di

260 biopsy, or direct mutational testing of the DMD gene.

261 rmalities downstream from the absence of the DMD product, dystrophin, appear to be strong therapeutic

262 After PCR, the DMD amplicons reacted with copper ion by reduction of as

263 ous end joining of up to 725 kb reframed the DMD gene.

264 in dystrophin caused by mutations within the DMD gene.

265 gies to improve this therapeutic approach to DMD.Exon skipping is a strategy for the treatment of Duc

266 sorders, which are known to be associated to DMD.

267 f innate immune responses, can contribute to DMD pathology by stimulating chronic inflammation.

268 We applied the platform to DMD-derived hiPSCs where successful deletion and non-hom

269 y profile, may provide therapeutic relief to DMD patients as the wait for additional therapies contin

270 lateralization contributes significantly to DMD arrhythmogenesis and that selective inhibition may p

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

272 nome editing as a potential therapy to treat DMD.

273 ) vectors is an attractive strategy to treat DMD.

274 requirement of a body-wide therapy to treat DMD.

275 fficient therapeutic approaches for treating DMD patients.

276 vation that Delta45-46 patients have typical DMD suggests that the conformation of the resultant prot

277 ation (LoA) varies between individuals whose DMD mutations all abolish dystrophin expression.

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

279 he histopathological changes associated with DMD.

280 dystrophic histopathologies associated with DMD.

281 A total of 109 ambulatory boys with DMD (8.7 +/- 2.0 years; range, 5.0-12.9) completed basel

282 6 unilateral arm/leg muscles in 36 boys with DMD and 28 healthy boys (age = 2-14 years) for up to 2 y

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

284 progression in 5- to 12.9-year-old boys with DMD and able to detect subclinical disease progression i

285 teriorating health of pre-pubertal boys with DMD could be due to diminished anabolic actions of andro

286 nt score (NSAA) on 513 ambulant UK boys with DMD were analysed from 2004 to 2012.

287 lso included data from 172 Italian boys with DMD.

288 sponsive to disease progression in boys with DMD.

289 n 1975 and 2011, and 344 were diagnosed with DMD.

290 nne Natural History Study), 51 patients with DMD and 17 age-matched normal volunteers.

291 s Hospital Medical Center), 42 patients with DMD and 28 age-matched normal volunteers; and cohort 2 (

292 erformed on serum samples from patients with DMD and age-matched healthy volunteers using a modified

293 Moreover, patients with DMD and BMD who develop end-stage heart failure may bene

294 a potential future therapy for patients with DMD and other neuromuscular disorders or with other dise

295 in 2 centers included 76 male patients with DMD or BMD undergoing 2 CMR studies with a 2-year interv

296 rdiomyopathy phenotype seen in patients with DMD was recapitulated.

297 anaging disease progression in patients with DMD.

298 d with prolonged ambulation in patients with DMD.

299 opsy samples from controls and patients with DMD.

300 k test time in young, ambulant patients with DMD; both of which are primary outcome measures in clini