ライフサイエンスコーパス: progeria

1 and that when mutated cause premature aging (progeria).

2 se to genetic diseases of accelerated aging (progerias).

3 sureable activity results in MAD-B or severe progeria.

4 ne (LMNA) cause the premature aging disease, progeria.

5 mice (Lmna HG/+) exhibit many phenotypes of progeria.

6 s may have beneficial effects in humans with progeria.

7 of HGPS and RD ameliorates the phenotypes of progeria.

8 is directly involved in vascular disease in progeria.

9 in Zmpste24-deficient mice, a mouse model of progeria.

10 diseases, myopathies, neuropathies, and even progeria.

11 ne, muscle and skin are also consistent with progeria.

12 ging in Zmpste24(-/-) mice, a mouse model of progeria.

13 multiple cellular phenotypes associated with progeria.

14 on due to deficiency of CD73, ankylosis, and progeria.

15 ellular models of ALS and premature aging in progeria.

16 mated 20% of the world's known patients with Progeria.

17 V-I-associated adult T-cell leukemia or with progeria.

18 est a link between Spartan insufficiency and progeria.

19 thway underlying the progressive SMC loss in progeria.

20 ntribute to disease-associated phenotypes in Progeria.

21 d from healthy donors and from patients with progeria, a genetic premature aging disease.

22 in LMNA cause many human diseases, including progeria, a premature aging syndrome, whereas LMNB1 dupl

23 ddle-age, and old-age humans and humans with progeria, a rare genetic disorder characterized by accel

24 Importantly, progeria/aging/senescent cells are hindered in their abi

25 neurons were remarkably similar to those in progeria, an early-onset aging disorder that has been li

26 ted aging, as observed in Hutchinson-Gilford progeria and atypical Werner syndromes.

27 isorder characterized by genome instability, progeria and early onset hepatocellular carcinoma.

28 tured fibroblasts derived from children with progeria and in a mouse model of HGPS.

29 athies), such as the premature aging disease progeria and metabolic disorders.

30 pass a range of diseases, including forms of progeria and muscular dystrophy.

31 that SADS provides a unifying event in both progeria and normal senescence.

32 telomerase mRNA is a promising approach for progeria and other age-related diseases.

33 gest a new therapeutic strategy for treating progeria and other lamin A diseases.

34 Failure to cleave prelamin A results in progeria and related premature aging disorders.

35 Progeria and related syndromes may be diseases of distri

36 d patient cells of human diseases, including progeria and the breast cancer model cell line MDA-MB-23

37 ells from mouse models of accelerated aging (progeria) and muscular dystrophy with distorted nuclei c

38 SH bridges are linked to muscular dystrophy, progeria, and cancer.

39 any human diseases, including heart disease, progeria, and cancer.

40 afflictions including heart disease, aging, progeria, and cancer.

41 disease belonging to the group of segmental progerias, and the clinical phenotype is characterized b

42 Children with Progeria are at risk for serious ophthalmic complication

43 Progerias are rare genetic diseases characterized by pre

44 o the premature aging phenotypes observed in progeria arising from genetic defects in prelamin A matu

45 provide insights into the biology underlying progeria-associated cellular dysfunction.

46 crocephaly due to a mutation in CDK5RAP2 and progeria-associated defects of Cockayne syndrome.

47 Consistently, the progeria-associated DSBs appeared to be unrepairable alt

48 ho have been enrolled in clinical trials for Progeria at Boston Children's Hospital.

49 dibuloacral dysplasia type B (MAD-B), severe progeria (atypical 'HGPS') and restrictive dermopathy (R

50 opathy, lipodystrophy, myopathy, neuropathy, progeria, bone/skin disorders, and overlap syndromes.

51 These mice had no evidence of progeria but succumbed to cardiomyopathy.

52 ystrophy, cardiomyopathy, lipodystrophy, and progeria, but mutations in B-type lamins have never been

53 uding muscular dystrophy, lipodystrophy, and progeria, but no diseases have been linked to the loss o

54 premature aging disorder Hutchinson-Gilford progeria, but the mechanisms are unknown.

55 t as therapeutic targets for both cancer and progeria, but very little information exists on the impo

56 We have created a mouse model for progeria by generating transgenics carrying a human bact

57 with the onset of disease, including cancer, progeria, cardiomyopathy, and muscular dystrophy.

58 ion, as was previously demonstrated in human progeria cases, caused severe dental abnormalities affec

59 the changes found in the most common form of progeria caused by the expression of LADelta50/progerin.

60 conventional STING behavior, aging/senescent/progeria cells activate inflammatory programs such as th

61 Impressively, in progeria cells where defective lamin A interferes with T

62 eviously documented changes in senescent and progeria cells.

63 erein with mRNA derived from senescent human progeria cells.

64 estry who has an autosomal recessive form of progeria, characterized by severe dwarfism, mandibular h

65 that inhibition of protein farnesylation in progeria could be therapeutically useful but also sugges

66 Applying ExIGS to progeria-derived fibroblasts revealed that lamin abnorma

67 planations as to the variable sensitivity to progeria disease among different organs.

68 The relationship between progerias--diseases that resemble premature aging--and t

69 aging) in culture, senescent fibroblasts, or progeria fibroblasts (from Hutchinson-Gilford progeria s

70 We find that Progeria fibroblasts carry abnormal transcriptional sign

71 levels of ROS were both 5-fold higher in the progeria fibroblasts.

72 n lamin A biogenesis and the pathogenesis of progeria has been studied in considerable detail, but th

73 ular defects in some extremely rare forms of progeria have yet to be elucidated.

74 complications are the main cause of death in progeria, here, we investigated whether progerin-induced

75 Hutchinson-Gilford progeria (HGPS) is a premature ageing syndrome caused by

76 l premature aging disease Hutchinson-Gilford Progeria (HGPS) is caused by a truncated and farnesylate

77 premature aging syndrome Hutchinson-Gilford progeria (HGPS).

78 premature-aging syndrome Hutchinson-Gilford progeria (HGPS).

79 rogress made on the premature aging disorder Progeria is a shining example of the impact that studies

80 ow the perturbation of the nuclear lamina in progeria is transduced into cellular changes is undefine

81 utchinson-Gilford progeria syndrome (HGPS or progeria) is typically caused by a dominant-negative C*G

82 iminated the nuclear shape abnormalities and progeria-like disease phenotypes in Zmpste24-/- mice.

83 G/+) and Lmna(nHG/nHG) mice developed severe progeria-like disease phenotypes, including osteolytic l

84 PS knock-in mice (Lmna(HG/+)) develop severe progeria-like disease phenotypes.

85 state levels of progerin and the severity of progeria-like disease phenotypes.

86 24) caused dramatically misshapen nuclei and progeria-like disease phenotypes.

87 ethnic backgrounds, both individuals share a progeria-like facial phenotype and a distinct combinatio

88 hey had shortened lifespan, but did not show progeria-like phenotypes.

89 Our results not only have relevance for the progeria-like side effects of certain HIV protease inhib

90 e a wide range of human disorders, including progeria, lipodystrophy, neuropathies and autosomal domi

91 nib resulted in 100% survival of the treated progeria mice to the study end-point (time of 50% surviv

92 Progeria mice treated with mTERT lentivirus manifested s

93 ue degeneration, and extends the lifespan of progeria mice.

94 A segmental progeria model with accelerated aging in specific tissue

95 d stem/progenitor cells (MDSPCs) in a murine progeria model.

96 models, but not in EC- and myeloid-specific progeria models, contained abundant cells combining endo

97 otype of the homozygous G608G BAC-transgenic progeria mouse model, and to determine the phenotype cha

98 eostatic cells and in disease states such as progeria, muscular dystrophy, and viral infection.

99 ated proteins cause laminopathies, including progeria, myopathy, and dystonia, though the extent to w

100 Studies of laminopathy-based progeria offer insights into aging-associated diseases a

101 ential opportunity is murine models of human progerias or diseases of accelerated aging.

102 d upregulation of nearby genes implicated in progeria pathophysiology.

103 In progeria-patient fibroblasts, a subset of pS22-Lamin A/C

104 ral history of ophthalmic characteristics in Progeria patients and to determine incidence of ocular m

105 e in two fibroblast cell lines from atypical progeria patients with lamin A missense mutations in the

106 LMNB1 is reduced in cells from progeria patients, but the significance of this reductio

107 resulted in a marked improvement of several progeria phenotypes and an extended lifespan.

108 if was changed to -SSIM) also develop severe progeria, raising doubts about whether any treatment tar

109 TSL upregulation is a hallmark of cancer and progeria, regulation of this pathway could be of great t

110 Biological samples were collected by The Progeria Research Foundation Cell and Tissue Bank from a

111 and most hallmarks of normal aging occur in progeria, research on HGPS can identify mechanisms under

112 perinuclear compartment are not observed in progeria/senescent/aging fibroblasts.

113 Children with Progeria should have an ophthalmic evaluation at the tim

114 ed in multiple disease pathologies including progeria, some forms of cancer, and Alzheimer's disease.

115 Hutchinson-Gilford progeria syndrome (HGPS or progeria) is typically caused

116 ch as the premature aging Hutchinson Gilford progeria syndrome (HGPS) and altered lamin A/C levels ar

117 in humans, including the Hutchinson-Gilford Progeria Syndrome (HGPS) and Atypical Werner Syndrome.

118 on found in children with Hutchinson-Gilford progeria syndrome (HGPS) and in a mouse model of this di

119 e premature aging disease Hutchinson-Gilford progeria syndrome (HGPS) and related progeroid disorders

120 In Hutchinson-Gilford progeria syndrome (HGPS) and restrictive dermopathy (RD)

121 RT program alterations in Hutchinson-Gilford progeria syndrome (HGPS) and Rothmund-Thomson syndrome (

122 ccelerated aging disorder Hutchinson-Gilford progeria syndrome (HGPS) can potentially reveal cellular

123 tribution is disrupted in Hutchinson-Gilford Progeria syndrome (HGPS) fibroblasts that express the Pr

124 Hutchinson-Gilford progeria syndrome (HGPS) is a childhood premature aging

125 Hutchinson-Gilford progeria syndrome (HGPS) is a devastating premature agin

126 Hutchinson-Gilford progeria syndrome (HGPS) is a fatal disease characterize

127 Hutchinson-Gilford Progeria Syndrome (HGPS) is a premature aging disease in

128 Hutchinson-Gilford progeria syndrome (HGPS) is a premature aging disease th

129 Hutchinson-Gilford progeria syndrome (HGPS) is a premature aging disorder c

130 Hutchinson-Gilford progeria syndrome (HGPS) is a premature aging disorder,

131 Hutchinson-Gilford progeria syndrome (HGPS) is a rare accelerated aging dis

132 Hutchinson-Gilford progeria syndrome (HGPS) is a rare and fatal human prema

133 Hutchinson-Gilford progeria syndrome (HGPS) is a rare autosomal dominant ge

134 Hutchinson-Gilford progeria syndrome (HGPS) is a rare disease caused by the

135 Hutchinson-Gilford progeria syndrome (HGPS) is a rare disorder characterize

136 Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disease cause

137 Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder char

138 Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder char

139 Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder that

140 Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder that

141 Hutchinson-Gilford progeria syndrome (HGPS) is a rare lethal genetic disord

142 Hutchison-Gilford Progeria Syndrome (HGPS) is a rare, accelerated aging di

143 Hutchinson-Gilford progeria syndrome (HGPS) is a rare, debilitating disease

144 Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare, fatal genetic diseas

145 Hutchinson-Gilford progeria syndrome (HGPS) is a rare, invariably fatal chi

146 Hutchinson-Gilford progeria syndrome (HGPS) is a rare, invariably fatal pre

147 Hutchinson-Gilford progeria syndrome (HGPS) is a segmental progeroid syndro

148 Hutchinson-Gilford progeria syndrome (HGPS) is a severe human premature agi

149 Hutchinson-Gilford progeria syndrome (HGPS) is a uniformly fatal condition

150 Hutchinson-Gilford progeria syndrome (HGPS) is a very rare genetic disorder

151 Hutchinson-Gilford progeria syndrome (HGPS) is an accelerated ageing syndro

152 Hutchinson-Gilford progeria syndrome (HGPS) is an accelerated aging disorde

153 Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare disease ca

154 Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare, fatal, se

155 Hutchinson-Gilford progeria syndrome (HGPS) is an ultrarare and fatal disea

156 Hutchinson-Gilford progeria syndrome (HGPS) is an ultrarare, fatal, prematu

157 Hutchinson-Gilford progeria syndrome (HGPS) is caused by a LMNA mutation th

158 e premature aging disease Hutchinson-Gilford Progeria Syndrome (HGPS) is caused by a mutant lamin A (

159 Hutchinson-Gilford progeria syndrome (HGPS) is caused by a mutant prelamin

160 Hutchinson-Gilford progeria syndrome (HGPS) is caused by a mutant prelamin

161 Hutchinson-Gilfor progeria syndrome (HGPS) is caused by a mutation in Lami

162 Premature aging in Hutchinson-Gilford progeria syndrome (HGPS) is caused by a mutation of the

163 premature aging disorder Hutchinson-Gilford progeria syndrome (HGPS) is caused by mutation of LMNA,

164 Hutchinson-Gilford progeria syndrome (HGPS) is caused by point mutations th

165 Hutchinson-Gilford progeria syndrome (HGPS) is caused by the production of

166 Hutchinson-Gilford progeria syndrome (HGPS) is the most dramatic form of hu

167 Hutchinson-Gilford progeria syndrome (HGPS) is typically caused by mutation

168 ors of different ages and Hutchinson-Gilford Progeria Syndrome (HGPS) patients.

169 Children with Hutchinson-Gilford progeria syndrome (HGPS) suffer from dramatic accelerati

170 Children with Hutchinson-Gilford Progeria Syndrome (HGPS) suffer from multiple cardiovasc

171 Hutchinson-Gilford Progeria Syndrome (HGPS) was first documented in the med

172 Hutchinson-Gilford progeria syndrome (HGPS), a devastating premature aging

173 malities in patients with Hutchinson-Gilford progeria syndrome (HGPS), a devastating premature aging

174 cells from patients with Hutchinson-Gilford progeria syndrome (HGPS), a disease caused by constituti

175 eloid leukemia as well as Hutchinson-Gilford progeria syndrome (HGPS), a genetic disease that is asso

176 In Hutchinson-Gilford progeria syndrome (HGPS), a mutant form of the nuclear s

177 Hutchinson-Gilford progeria syndrome (HGPS), a premature aging disorder cau

178 f lamin A responsible for Hutchinson-Gilford progeria syndrome (HGPS), a premature aging disorder cha

179 Hutchinson-Gilford progeria syndrome (HGPS), a progeroid syndrome in childr

180 Hutchinson-Gilford progeria syndrome (HGPS), a rare disease that results in

181 n patients suffering from Hutchinson-Gilford progeria syndrome (HGPS), a rare genetic disorder caused

182 perimental treatments for Hutchinson-Gilford progeria syndrome (HGPS), an endeavor that many view as

183 ctive dermopathy (RD) and Hutchinson Gilford progeria syndrome (HGPS), are characterized by poor grow

184 previously implicated in Hutchinson-Gilford progeria syndrome (HGPS), increase.

185 ts that diseases, such as Hutchinson-Gilford progeria syndrome (HGPS), that are caused by prelamin A-

186 se recent developments in Hutchinson-Gilford progeria syndrome (HGPS), Werner syndrome, Bloom syndrom

187 remature ageing disorder--Hutchinson Gilford Progeria Syndrome (HGPS)-lead to reduced ITL formation a

188 e premature aging disease Hutchinson-Gilford Progeria Syndrome (HGPS).

189 l premature aging disease Hutchinson-Gilford progeria syndrome (HGPS).

190 as Werner's syndrome and Hutchinson-Gilford progeria syndrome (HGPS).

191 cells in a mouse model of Hutchinson-Gilford progeria syndrome (HGPS).

192 nd a mouse model of human Hutchinson-Gilford progeria syndrome (HGPS).

193 mutation of which causes Hutchinson-Gilford progeria syndrome (HGPS).

194 e premature-aging disease Hutchinson-Gilford progeria syndrome (HGPS).

195 Hutchinson-Gilford progeria syndrome (HGPS; Online Mendelian Inheritance in

196 c mouse models, including Hutchinson-Gilford progeria syndrome (Lmna(L530P/L530P)) and Emery-Dreifuss

197 Nestor-Guillermo progeria syndrome (NGPS) is caused by a homozygous alani

198 a human progeroid disorder, Nestor-Guillermo progeria syndrome (NGPS).

199 e premature aging disease Hutchinson-Gilford progeria syndrome (termed progerin) acts as a dominant n

200 mature aging uncovered in Hutchinson-Gilford progeria syndrome and other accelerated aging syndromes,

201 teoporosis, patients with Hutchinson-Gilford progeria syndrome are affected by accelerated, premature

202 plain why mouse models of Hutchinson-Gilford progeria syndrome are free of central nervous system pat

203 accelerated aging disease Hutchinson-Gilford progeria syndrome caused by mutant lamin A, as well as c

204 ts several alterations in Hutchinson-Gilford progeria syndrome cells and mice by introducing frameshi

205 for the largest untreated Hutchinson-Gilford progeria syndrome cohort to date.

206 Hutchinson-Gilford progeria syndrome fibroblasts (mutant lamin A) also show

207 ducible cellular model of Hutchinson-Gilford progeria syndrome in HeLa cells in which increased proge

208 at progerin expression in Hutchinson-Gilford progeria syndrome inhibits the nucleocytoplasmic transpo

209 Hutchinson Gilford progeria syndrome is a premature aging disorder wherein

210 Hutchinson-Gilford progeria syndrome is a rare childhood genetic disorder w

211 Hutchinson-Gilford progeria syndrome is a rare inherited disorder of premat

212 Hutchinson-Gilford progeria syndrome is a rare, sporadic, autosomal dominan

213 Hutchinson-Gilford progeria syndrome is an extremely rare, fatal, segmental

214 Hutchinson-Gilford progeria syndrome is an ultrarare segmental premature ag

215 Hutchinson-Gilford progeria syndrome is caused by the synthesis of a mutant

216 the detailed phenotype of Hutchinson-Gilford progeria syndrome is important because advances in under

217 ant Lamin A, progerin, in Hutchinson-Gilford Progeria Syndrome leads to alterations in genome archite

218 screen in fibroblasts from Nestor-Guillermo Progeria Syndrome male patients, carrying a homozygous A

219 reased the life span of a Hutchinson-Gilford progeria syndrome mouse model.

220 Because Hutchinson Guilford progeria syndrome patient cells do not form excess heter

221 rogeria fibroblasts (from Hutchinson-Gilford progeria syndrome patients).

222 duced in fibroblasts from Hutchinson-Gilford progeria syndrome patients.

223 Premature aging in Hutchinson-Gilford progeria syndrome recapitulates physiological aging feat

224 y-seven participants with Hutchinson-Gilford progeria syndrome received pravastatin, zoledronic acid,

225 lamin A diseases" such as Hutchinson-Gilford progeria syndrome spare the central nervous system.

226 as a candidate target for Hutchinson-Gilford progeria syndrome treatment.

227 n patients (28 eyes) with Hutchinson-Gilford Progeria syndrome were included for statistical analysis

228 h muscle cell loss (e.g., Hutchinson-Gilford progeria syndrome) and experimental studies suggest that

229 rm of prelamin A found in Hutchinson-Gilford progeria syndrome), the levels of progerin in the brain

230 in patients afflicted by Hutchinson-Gilford progeria syndrome, a devastating condition that accelera

231 blasts from patients with Hutchinson-Gilford progeria syndrome, a form of accelerated aging.

232 y neurological disease in Hutchinson-Gilford progeria syndrome, a genetic disease caused by the synth

233 re phenotypes shared with Hutchinson-Gilford progeria syndrome, a human disease caused by the synthes

234 erived from patients with Hutchinson-Gilford progeria syndrome, a premature aging syndrome.

235 e main medical problem in Hutchinson-Gilford progeria syndrome, a rare premature aging disorder cause

236 recently been associated with a novel human progeria syndrome, and cells from these patients have ab

237 some forms of cancer and Hutchinson-Gilford Progeria Syndrome, and often include protruding structur

238 ison to that of classical Hutchinson-Gilford progeria syndrome, and we suggest that the application o

239 Among these, Hutchinson-Gilford progeria syndrome, caused by a point mutation in the LMN

240 athway is misregulated in Hutchinson-Gilford progeria syndrome, causing mTORC1 hyperactivation and de

241 rld's known patients with Hutchinson-Gilford progeria syndrome, in a comprehensive clinical protocol

242 ological conditions as in Hutchinson-Gilford progeria syndrome, in which a mutation in the lamin A ge

243 targeted for mutation in Hutchinson Gilford Progeria Syndrome, may control the onset of aging-associ

244 , the protein that causes Hutchinson-Gilford progeria syndrome, triggers nuclear membrane (NM) ruptur

245 premature aging disorder Hutchinson-Gilford progeria syndrome, with its partners was largely mediate

246 othelial phenotype during Hutchinson-Gilford progeria syndrome-associated atherosclerosis.

247 sted for the treatment of Hutchinson-Gilford progeria syndrome.

248 any diseases, including cardiomyopathies and Progeria Syndrome.

249 ss muscular dystrophy and Hutchinson-Gilford progeria syndrome.

250 e premature aging disease Hutchinson-Gilford Progeria Syndrome.

251 matic of these disorders, Hutchinson-Gilford progeria syndrome.

252 lated cardiomyopathy, and Hutchinson-Gilford progeria syndrome.

253 lated cardiomyopathy, and Hutchinson-Gilford progeria syndrome.

254 s processing site, causes Hutchinson-Gilford progeria syndrome.

255 premature aging disorder Hutchinson-Gilford Progeria Syndrome.

256 cells from patients with Hutchinson-Gilford progeria syndrome.

257 scular system and include Hutchinson-Gilford progeria syndrome.

258 eases Werner syndrome and Hutchinson-Gilford progeria syndrome.

259 a LMNA mutation linked to Hutchinson-Gilford progeria syndrome.

260 e premature aging disease Hutchinson-Gilford progeria syndrome.

261 vival with treatments for Hutchinson-Gilford progeria syndrome.

262 le muscular dystrophy, and Hutchison-Gilford progeria syndrome.

263 Progeria syndromes are very rare, incurable premature ag

264 hat drive accelerated ageing in prototypical progeria syndromes in humans point to an important role

265 c function in a well-accepted mouse model of progeria that exhibits severe perimorbid cardiovascular

266 AD) is a largely unexplored form of atypical progeria that lacks lamin A post-translational processin

267 Here we present a mouse model for progeria that may elucidate mechanisms of ageing and dev

268 In progeria, the accumulation of farnesyl-prelamin A disrup

269 r dystrophy (AD-EDMD) and Hutchinson-Gilford progeria, the premature aging syndrome (HGPS).

270 g and shortens the lifespan of children with progeria to approximately 14 years(1-4).

271 of the LMNA cryptic splicing event linked to progeria uncovered ZNF207, primarily known for mitotic s

272 premature aging syndrome Hutchinson-Gilford progeria, we explore the possibility that protein regula

273 Retrospective case series of patients with Progeria who were seen between 2007 and 2016.