ライフサイエンスコーパス: lipodystrophy

1 uman ARL15 haploinsufficiency predisposes to lipodystrophy.

2 whereby pathogenic mutations in BSCL2 cause lipodystrophy.

3 respect to dyslipidemia, hyperglycemia, and lipodystrophy.

4 otypes, providing a mouse model of inducible lipodystrophy.

5 fat have a phenotype reminiscent of partial lipodystrophy.

6 short-term overfeeding in patients with HIV lipodystrophy.

7 hy, or later in life, as in familial partial lipodystrophy.

8 cations for anti-obesity medical therapy and lipodystrophy.

9 iabetes, obesity, cancer, and HIV-associated lipodystrophy.

10 zed by dyslipidemia, insulin resistance, and lipodystrophy.

11 sed levels of IGF-1 in HIV-infected men with lipodystrophy.

12 men with human immunodeficiency virus (HIV) lipodystrophy.

13 sociated with better lipid profiles and less lipodystrophy.

14 cles, acro-osteolysis, cutaneous atrophy and lipodystrophy.

15 ked to the insulin resistance of obesity and lipodystrophy.

16 en reported in patients with MAD and partial lipodystrophy.

17 ed with progeroid appearance and generalized lipodystrophy.

18 ssociated hepatic steatosis in patients with lipodystrophy.

19 tutively low leptin levels, such as occur in lipodystrophy.

20 tabolic abnormalities associated with severe lipodystrophy.

21 ment, and provide a candidate gene for human lipodystrophy.

22 isk parameters in HIV-infected patients with lipodystrophy.

23 None of the subjects exhibited clinical lipodystrophy.

24 lipodystrophy, Berardinelli-Seip congenital lipodystrophy.

25 This may explain WZB117-induced murine lipodystrophy.

26 cells from progeroid INK-ATTAC mice prevents lipodystrophy.

27 have therapeutic applications in obesity or lipodystrophy.

28 , an aged appearance, and severe generalized lipodystrophy.

29 al link between this process and HIV-related lipodystrophy.

30 ile consistent with a common, subtle form of lipodystrophy.

31 se ob/ob background accelerated the onset of lipodystrophy.

32 ribe a family with MPGN and acquired partial lipodystrophy.

33 describe here a unique mouse model of severe lipodystrophy.

34 in-resistant patients with hyperglycemia and lipodystrophy.

35 ies that have been utilized in patients with lipodystrophy.

36 enesis and maintenance and the cause of some lipodystrophies.

37 sms underlying dyslipidemia in patients with lipodystrophies.

38 2), have been found in patients with genetic lipodystrophies.

39 nt of fat loss also varies among subtypes of lipodystrophies.

40 of body fat is the hallmark of patients with lipodystrophies.

41 K2) could also be a candidate gene for other lipodystrophies.

42 dating the molecular basis of many inherited lipodystrophies.

43 ltransferase 2, Berardinelli-Seip congenital lipodystrophy 2, caveolin 1, lamin A/C, peroxisome proli

44 dystrophy (8 patients) or Dunnigan's partial lipodystrophy (2 patients) were included in this analysi

45 as significantly higher in patients with HIV lipodystrophy [33.2 +/- 0.27 kcal/kg lean body mass (LBM

46 Ten patients with either generalized lipodystrophy (8 patients) or Dunnigan's partial lipodys

47 tin is an approved treatment for generalized lipodystrophy, a condition associated with severe metabo

48 People with lipodystrophy, a disorder characterized by particularly

49 dystrophy (fld) gene have features of human lipodystrophy, a genetically heterogeneous group of diso

50 ncoding lamin A/C) underlie familial partial lipodystrophy, a syndrome of monogenic insulin resistanc

51 In contrast, in monogenic primary lipodystrophy-a reduction in subcutaneous adipose tissue

52 of autosomal recessive and dominant types of lipodystrophies and therapeutic interventions available

53 lice site mutation in a proband with partial lipodystrophy and a history of childhood yolk sac tumour

54 ity and type 2 diabetes mellitus, as well as lipodystrophy and aging.

55 ouse model (fatless AZIP/F-1 mice) of severe lipodystrophy and diabetes.

56 y associated with metabolic diseases such as lipodystrophy and diabetes.

57 hronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE syndrome)

58 hronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE), which i

59 nant-negative mutations in PPARgamma display lipodystrophy and extreme insulin resistance.

60 1 in the mouse, but not in humans, leads to lipodystrophy and fatty liver disease.

61 dystrophy (fld) mice, which exhibit partial lipodystrophy and have diminished peripheral adipose sto

62 protease inhibitor therapy adversely induces lipodystrophy and hyperlipidemia has not been defined.

63 ceiving protease inhibitors develop a marked lipodystrophy and hyperlipidemia.

64 example, mutations in PPARG cause Mendelian lipodystrophy and increase risk of type 2 diabetes (T2D)

65 , making the A-ZIP/F-1 mice a good model for lipodystrophy and insulin resistance.

66 aneously by 1 year of age, despite sustained lipodystrophy and insulin resistance.

67 tions in PPARG are known to cosegregate with lipodystrophy and insulin resistance; in the general pop

68 PPARgamma inactivation caused severe lipodystrophy and insulin resistance; surprisingly, it a

69 re of human and rodent models of generalized lipodystrophy and is also a common feature of type 2 dia

70 ides a conditional animal model for studying lipodystrophy and its associated physiology and gene exp

71 creased triglyceride levels in patients with lipodystrophy and leptin deficiency.

72 ytes undergo dedifferentiation that leads to lipodystrophy and metabolic dysfunction.

73 with adverse side effects, including partial lipodystrophy and metabolic syndrome.

74 lethal combination of pathologies, including lipodystrophy and multiple hemorrhages.

75 nse mutation in a proband with femorogluteal lipodystrophy and non classical congenital adrenal hyper

76 Lipodystrophy and obesity are opposites in terms of a de

77 ed that adipose tissue macrophages (ATMs) in lipodystrophy and obesity are very different in terms of

78 s an accumulation of prelamin A and leads to lipodystrophy and other disease phenotypes.

79 HIV lipodystrophy and other lipodystrophy syndromes are char

80 atment for HIV but have been associated with lipodystrophy and other side effects.

81 o suggest and prioritize candidate genes for lipodystrophy and related disorders.

82 years; eight with diabetes mellitus) who had lipodystrophy and serum leptin levels of less than 4 ng

83 monogenic diabetic syndromes and congenital lipodystrophies, and candidate gene association studies

84 lude muscular dystrophies, cardiomyopathies, lipodystrophies, and premature aging syndromes.

85 ulin resistance in obesity, type 2 diabetes, lipodystrophy, and ageing; and the insulin-sensitising e

86 ders, including obesity, metabolic syndrome, lipodystrophy, and cachexia.

87 rder characterized by short stature, partial lipodystrophy, and insulin resistance.

88 including markedly aberrant fuel metabolism, lipodystrophy, and muscular dystrophy.

89 ee genetic diseases: HVDRR, congenital total lipodystrophy, and persistent mullerian duct syndrome.

90 g, obesity, Cushing's syndrome, and acquired lipodystrophy, and preliminary evidence suggests that ec

91 ncluding muscular dystrophy, cardiomyopathy, lipodystrophy, and progeria, but mutations in B-type lam

92 uman diseases, including muscular dystrophy, lipodystrophy, and progeria, but no diseases have been l

93 muscular dystrophy, cardiomyopathy, partial lipodystrophy, and progeroid syndromes.

94 muscular dystrophy, cardiomyopathy, partial lipodystrophy, and progeroid syndromes.

95 (-/-) mice were lean, demonstrated abdominal lipodystrophy, and remained insulin-sensitive despite ha

96 es, which include premature aging syndromes, lipodystrophy, and striated muscle disorders.

97 reduction in body weight and length, partial lipodystrophy, and systemic insulin resistance.

98 most cases of NAFLD associated with obesity, lipodystrophy, and type 2 diabetes.

99 In contrast, lipodystrophy (aP2-SREBP-1c436) and liver X receptor act

100 In this population, the lipodystrophy appears to be a direct consequence of drug

101 The lipodystrophies are a group of disorders characterized b

102 Inherited lipodystrophies are an important cause for monogenic hyp

103 Lipodystrophies are characterized by a loss of white adi

104 Inherited lipodystrophies are rare autosomal recessive and dominan

105 Lipodystrophies are rare inherited and acquired disorder

106 Lipodystrophies are syndromes of adipose tissue degenera

107 ein cholesterol, higher body-mass index, and lipodystrophy are potentially modifiable risk factors as

108 Panniculitis and lipodystrophy are rare disorders of subcutaneous tissue.

109 podystrophy was hypertensive, ruling out the lipodystrophy as a cause.

110 A cause laminopathies, which include partial lipodystrophies associated with metabolic syndromes.

111 2) describe a stereotyped pattern of partial lipodystrophy associated with all the features of the me

112 L) type 2 (BSCL2; also known as seipin) is a lipodystrophy-associated endoplasmic reticulum membrane

113 ling agents as a potential novel therapy for lipodystrophy-associated hypertriglyceridemia, NASH and

114 The lipodystrophy-associated LMNA p.R482W mutation is known

115 These findings distinguish myopathy- and lipodystrophy-associated mutations and provide a structu

116 Skin analyses in other models of lipodystrophy, AZIP(tg/+) and Adipoq-Cre(tg/+)Pparg(fl/f

117 A case definition for HIV lipodystrophy, based on age, gender, duration of HIV dis

118 sis, suggesting that neither strain develops lipodystrophy because of defective adipocyte differentia

119 the most common form of autosomal recessive lipodystrophy, Berardinelli-Seip congenital lipodystroph

120 the context of Berardinelli-Seip congenital lipodystrophy (BSCL) linked to seipin deficiency.

121 Berardinelli-Seip congenital lipodystrophy (BSCL) type 2 (BSCL2; also known as seipin

122 increased significantly in patients with HIV lipodystrophy but not in the control groups (33.2 +/- 0.

123 improving metabolic control in patients with lipodystrophy, but its efficacy has not been tested in o

124 obesity, type 2 diabetes, and some forms of lipodystrophy, but whether this dysfunction contributes

125 s in AGPAT2 may cause congenital generalized lipodystrophy by inhibiting triacylglycerol synthesis an

126 be attuned to the psychological impact that lipodystrophy can have on patients, especially because i

127 estimating the pathogenesis of human partial lipodystrophy caused by CIDEC mutations.

128 Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disord

129 Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by

130 ny of the features of congenital generalized lipodystrophy (CGL), an autosomal recessive disorder in

131 Congenital generalized lipodystrophy (CGL), secondary to AGPAT2 mutation is cha

132 viduals affected with congenital generalized lipodystrophy (CGL).

133 A syndrome of lipodystrophy, characterized by fat redistribution and i

134 The familial partial Dunnigan lipodystrophy, characterized by subcutaneous fat loss, i

135 f fatty liver disease using a mouse model of lipodystrophy created by a fat-specific knockout of the

136 an association with calcinosis and p155 with lipodystrophy), cytokine polymorphisms, which appear to

137 tisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypog

138 nts with a novel subtype of familial partial lipodystrophy, designated as FPLD4.

139 tant regulator of metabolism associated with lipodystrophy, diabetes, and hepatic steatosis.

140 These mice develop severe lipodystrophy, diabetes, hyperlipidemia, and fatty liver

141 Familial partial lipodystrophy, Dunnigan variety, (FPLD, OMIM 308980) is

142 Metabolic disorders, including lipodystrophy, dyslipidemia, and insulin resistance, occ

143 Patients with lipodystrophy exhibit hypertriglyceridemia, severe insul

144 yme Dicer (ADicerKO), as well as humans with lipodystrophy, exhibit a substantial decrease in levels

145 , fat samples from patients with HIV-related lipodystrophy exhibited a substantial downregulation of

146 Among genetic lipodystrophies, fat loss is observed either from birth,

147 Lipin deficiency causes lipodystrophy, fatty liver, and insulin resistance in mi

148 Familial partial lipodystrophy (FPLD), Dunnigan variety, is an autosomal

149 cle defects, and the other, familial partial lipodystrophy (FPLD), involves loss of subcutaneous adip

150 dystrophy and Dunnigan-type familial partial lipodystrophy (FPLD).

151 s of muscular dystrophy and familial partial lipodystrophy (FPLD).

152 idues genetically linked to familial partial lipodystrophy (FPLD).

153 understanding of the biologic role of these lipodystrophy genes.

154 The term 'HIV/HAART associated dyslipidemic lipodystrophy (HADL)' describes this syndrome.

155 Recently the incidence of lipodystrophy has been increasing secondary to its appea

156 netic studies in hyperglycemic patients with lipodystrophies have revealed accelerated lipolysis and

157 scribe a metabolic disorder characterized by lipodystrophy, hepatic steatosis, insulin resistance, se

158 ed with several metabolic changes, including lipodystrophy, hyperlipidemia, and insulin resistance.

159 metabolic side effects, including peripheral lipodystrophy, hyperlipidemia, insulin resistance, and i

160 ndrome that resembles congenital generalized lipodystrophy in humans.

161 d adipocyte differentiation as the basis for lipodystrophy in lipin-deficient mice and demonstrate th

162 Lipin-1 mutations cause lipodystrophy in mice and acute myopathy in humans.

163 ted allele that confers conditional dominant lipodystrophy in mice.

164 ents to treat the different features seen in lipodystrophy in order to reduce their long-term cardiov

165 The apparent partial lipodystrophy in Reep1 null mice, although less severe,

166 Both physician and patient rating of lipodystrophy in the arms, legs, and abdomen also improv

167 the Lpin1 (lipin) gene to be responsible for lipodystrophy in the fatty liver dystrophy (fld) mouse s

168 ns in the lipin gene, Lpin1, as the cause of lipodystrophy in the fatty liver dystrophy (fld) mouse.

169 encoding lipin-1, as the underlying cause of lipodystrophy in the fatty liver dystrophy (fld) mutant

170 nzymes and explain the biochemical basis for lipodystrophy in the lipin-1-deficient fld mouse.

171 ia, and panniculitis-induced childhood-onset lipodystrophy) in adults.

172 sulin resistance, but their contributions to lipodystrophy-induced insulin resistance have not been e

173 Unexpectedly, tTA elicits mild lipodystrophy, insulin resistance, and dyslipidemia, and

174 Lipodystrophy is a disorder characterized by a loss of a

175 Lipodystrophy is a rare disorder characterized by comple

176 Lipodystrophy is a rare disorder that is characterized b

177 Congenital generalized lipodystrophy is an autosomal recessive disorder charact

178 Since severe lipodystrophy is associated with leptin deficiency, insu

179 Berardinelli-Seip lipodystrophy is caused by autosomal recessive mutations

180 Severe lipodystrophy is characterized by diminished adipose tis

181 Lipodystrophy is characterized by the complete or partia

182 hown in family members with acquired partial lipodystrophy, it did not segregate with the renal pheno

183 microcytic anemia, and panniculitis-induced lipodystrophy (JMP).

184 Lipodystrophy (LD) is a rare disease with a paucity of s

185 cted individuals may develop malnutrition or lipodystrophy, leading to losses of subcutaneous adipose

186 patients with extreme insulin resistance and lipodystrophy, leptin ameliorates insulin resistance, hy

187 white and brown adipose tissue resulted in a lipodystrophy-like syndrome.

188 noted were hepatitis, peripheral neuropathy, lipodystrophy/lipoatrophy, and pancreatitis, whereas the

189 us, raising the possibility of more than two lipodystrophy loci within the Oman population.

190 encoding proteins known to activate lipin, a lipodystrophy locus in mice, and 16 other genes that are

191 Lipin 2 (LPIN2), a candidate gene for lipodystrophy, maps in proximity to this locus.

192 y of dyslipidemia in these rare disorders of lipodystrophies may offer insights into the normal role

193 ther research is needed to determine whether lipodystrophy may be misdiagnosed as wasting syndrome.

194 lipidemia, insulin resistance, hypoglycemia, lipodystrophy, motor-neuron death, and hepatitis C infec

195 orders of liporegulation include generalized lipodystrophies, mutations of leptin and leptin receptor

196 E was measured in HIV-infected patients with lipodystrophy (n = 9) and in HIV-infected (n = 10) and h

197 ange of human disorders, including progeria, lipodystrophy, neuropathies and autosomal dominant Emery

198 ose tissue, and adipocyte dysfunction causes lipodystrophy, obesity and diabetes.

199 ts in the context of human linkage scans for lipodystrophy, obesity, and type 2 diabetes.

200 FIT2 (AF2KO) in mice results in progressive lipodystrophy of white adipose depots and metabolic dysf

201 ons cause axonal neuropathy, with associated lipodystrophy only occasionally noted, however homozygos

202 Lipodystrophy or fat re-distribution, and its associated

203 CI, 1.13-1.49]; P<.001), and the presence of lipodystrophy (OR, 3.82 [95% CI, 1.13-12.88]; P=.03).

204 In mice with too little fat (lipodystrophy) or too much fat (ob/ob), leptin deficienc

205 issense mutation in human seipin that causes lipodystrophy, or corresponding mutations in the yeast g

206 her from birth, as in congenital generalized lipodystrophy, or later in life, as in familial partial

207 riptional role of PTRF not only explains the lipodystrophy phenotype observed in PTRF deficient mice

208 Partial lipodystrophy (PLD; MIM 151660) is an inherited conditio

209 The lipodystrophy protein SEIPIN is important for lipid drop

210 The prevalence of HIV-associated lipodystrophy ranges from 6% to 69% in the medical liter

211 -ray absorptiometry and computed tomography, lipodystrophy ratings, and levels of glucose, insulin, a

212 uman immunodeficiency virus (HIV)-associated lipodystrophy refers to fat accumulation, also known as

213 iver is a common feature of both obesity and lipodystrophy, reflecting compromised adipose tissue fun

214 Loss of adipose tissue, or lipodystrophy, results in hyperinsulinemia, diabetes mel

215 d with a similar phenotype including partial lipodystrophy, severe insulin resistance and type 2 diab

216 Both patients also had lipodystrophy, severe insulin resistance, and diabetes,

217 HIV lipodystrophy syndrome (HLS) is characterized by acceler

218 lycerolemia, a characteristic feature of HIV lipodystrophy syndrome (HLS), is incompletely understood

219 tprandial period may be a feature of the HIV lipodystrophy syndrome and may be due to an inability to

220 ether these changes have been termed the HIV-lipodystrophy syndrome, which is estimated to affect a m

221 e metabolic disturbances associated with HIV lipodystrophy syndrome.

222 Lipodystrophy syndromes are also associated with increas

223 HIV lipodystrophy and other lipodystrophy syndromes are characterized by extensive l

224 or 1 have been described linked to different lipodystrophy syndromes.

225 but tended to be higher in patients with HIV lipodystrophy than in healthy controls after a large tes

226 Although ATMs are even more abundant in lipodystrophy than in obesity, they have distinct phenot

227 iew addresses a syndrome of dyslipidemia and lipodystrophy that has emerged in HIV-infected patients

228 a fat-specific KO of dicer develop a form of lipodystrophy that is characterized by loss of intra-abd

229 drug-induced liver injury and depression or lipodystrophy) that led to discontinuation.

230 ct insulin sensitivity, as observed in human lipodystrophy, through reduced levels of adipocyte-deriv

231 signaling in a diabetic model of generalized lipodystrophy to analyze its effects on glucose metaboli

232 ransgenic (Tg) mice, an established model of lipodystrophy, to ask this question.

233 a polygenic contribution to familial partial lipodystrophy type 1, a severe form of insulin resistanc

234 Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) is a recessive disorder fea

235 herited form is Berardinelli-Seip Congenital Lipodystrophy Type 2, associated with mutations in the B

236 reserved in mice with congenital generalized lipodystrophy type 3.

237 T occurs in mice with congenital generalized lipodystrophy type 4, whereas both rMAT and cMAT are pre

238 We showed that another mouse model of lipodystrophy was hypertensive, ruling out the lipodystr

239 Investigator-reported lipodystrophy was less common in the tenofovir DF group

240 Clinical and subclinical lipodystrophy was not noted in those younger than 5 year

241 However, fat redistribution (lipodystrophy) was recognized recently as a metabolic si

242 ight into how altered AGPAT2 activity causes lipodystrophy, we examined the effect of knockdown of AG

243 arboring pathogenic mutations known to cause lipodystrophy were also generated and characterized.

244 -1c mice develop a syndrome resembling human lipodystrophy, which includes a loss of peripheral white

245 Mr B, a 39-year-old man with HIV-associated lipodystrophy whose facial changes are a cause of signif

246 Efforts to ameliorate NASH in lipodystrophies with pharmacologic agents have met with

247 ion in adipose tissue can lead a syndrome of lipodystrophy with metabolic syndrome and cardiovascular

248 phy (fld) mouse is an exception, as there is lipodystrophy without a fatty liver.