ライフサイエンスコーパス: progeria

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

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

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

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

5 s may have beneficial effects in humans with progeria.

6 of HGPS and RD ameliorates the phenotypes of progeria.

7 is directly involved in vascular disease in progeria.

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

9 diseases, myopathies, neuropathies, and even progeria.

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

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

12 est a link between Spartan insufficiency and progeria.

13 thway underlying the progressive SMC loss in progeria.

14 ntribute to disease-associated phenotypes in Progeria.

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

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

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

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

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

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

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

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

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

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

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

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

27 Progeria and related syndromes may be diseases of distri

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

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

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

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

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

33 Children with Progeria are at risk for serious ophthalmic complication

34 Progerias are rare genetic diseases characterized by pre

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

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

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

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

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

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

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

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

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

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

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

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

47 erein with mRNA derived from senescent human progeria cells.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

138 Hutchinson Gilford progeria syndrome is a premature aging disorder wherein

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

161 any diseases, including cardiomyopathies and Progeria Syndrome.

162 ss muscular dystrophy and Hutchinson-Gilford progeria syndrome.

163 e premature aging disease Hutchinson-Gilford Progeria Syndrome.

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

165 lated cardiomyopathy, and Hutchinson-Gilford progeria syndrome.

166 lated cardiomyopathy, and Hutchinson-Gilford progeria syndrome.

167 vival with treatments for Hutchinson-Gilford progeria syndrome.

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

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

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

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

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

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

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