ライフサイエンスコーパス: FHC

1 FHC brain levels are elevated in these animals, which al

2 FHC is induced downstream of NF-kappaB and is required t

3 FHC often leads to malignant outcomes and sudden cardiac

4 FHC overexpression, when combined with R2 mapping and MR

5 FHC-mediated inhibition of JNK signaling depends on supp

6 ng evidence that the functional impact of an FHC mutation on myosin depends on the isoform backbone.

7 The stronger interaction of B27 dimers and FHC forms with LILRB2 compared with other HLA class I co

8 -transfected cells expressing B27 dimers and FHC inhibited IL-2 production by LILRB2-expressing repor

9 method of distinguishing between healthy and FHC R58Q and D166V hearts by analyzing the probability d

10 B27 FHC dimers interacted functionally with KIR3DL2 on NK an

11 B27 FHC forms, but not classical B27, bind to KIR3DL2.

12 LILRB2 bound to B27(2) and B27 FHC and B27 heterotrimers with K(D)s of 2.5, 2.6, and 22

13 In this study, we show that B27(2) and B27 FHC bind more strongly to KIR3DL2 than other HLA-class I

14 Binding to B27(2) and B27 FHC stimulated greater KIR3DL2 phosphorylation than HLA-

15 B27(2) and B27 FHC stimulated KIR3DL2CD3epsilon-transduced T cell IL-2

16 K(D) of 5.3 +/- 1.5 muM but did not bind B27 FHC.

17 We compared the function of B27 FHC dimers with other class I H chains and identified co

18 ver, LILRB2Fc bound to dimeric and other B27 FHC forms on B27-expressing cell lines more strongly tha

19 the stronger interaction of KIR3DL2 with B27 FHC.

20 Diastolic function was impaired in both FHC mutants (time to 90% relaxation: I79N 48 +/- 1.0 ms,

21 esidual level of ATPase, (2) shown that both FHC mutants increase the rate of cleavage at R133, ~45 r

22 binding of ferritin to cells is mediated by FHC but not FLC.

23 ly transformed to ferrous hydroxy carbonate (FHC).

24 ed the familial hypertrophic cardiomyopathy (FHC) alpha-Tm E180G model.

25 cause familial hypertrophic cardiomyopathy (FHC) and sudden cardiac death frequently increase myofil

26 tic of familial hypertrophic cardiomyopathy (FHC) and sudden death of uncertain etiology during exerc

27 res of familial hypertrophic cardiomyopathy (FHC) caused by an Asp175Asn mutation in the alpha-tropom

28 Familial hypertrophic cardiomyopathy (FHC) has been linked to mutations in proteins of the car

29 ked to familial hypertrophic cardiomyopathy (FHC) have been identified in this domain.

30 ure of familial hypertrophic cardiomyopathy (FHC) in humans suggests a link between the type of mutat

31 d with familial hypertrophic cardiomyopathy (FHC) in humans.

32 model familial hypertrophic cardiomyopathy (FHC) in humans.

33 orm of familial hypertrophic cardiomyopathy (FHC) in humans.

34 Familial hypertrophic cardiomyopathy (FHC) is a genetic disorder resulting from mutations in g

35 Familial hypertrophic cardiomyopathy (FHC) is a heritable form of cardiac hypertrophy caused b

36 Familial hypertrophic cardiomyopathy (FHC) is a human genetic disorder caused by mutations in

37 Familial hypertrophic cardiomyopathy (FHC) is a major cause of sudden cardiac death in young a

38 Familial hypertrophic cardiomyopathy (FHC) is an autosomal-dominant disease that is both clini

39 Familial hypertrophic cardiomyopathy (FHC) is an inherited autosomal dominant disease caused b

40 Familial hypertrophic cardiomyopathy (FHC) is an inherited cardiac disease that can result in

41 Familial hypertrophic cardiomyopathy (FHC) is caused by missense or premature truncation mutat

42 Familial hypertrophic cardiomyopathy (FHC) is caused by mutations in sarcomeric proteins inclu

43 Familial hypertrophic cardiomyopathy (FHC) is one of the most common genetic causes of heart d

44 cause familial hypertrophic cardiomyopathy (FHC) on cardiac muscle contraction, wild-type, and the f

45 ignant familial hypertrophic cardiomyopathy (FHC) phenotype were generated, and the skinned and intac

46 cle of familial hypertrophic cardiomyopathy (FHC) remains poorly understood, despite the fact that th

47 del of familial hypertrophic cardiomyopathy (FHC) was generated by the introduction of an Arg 403 -->

48 causes familial hypertrophic cardiomyopathy (FHC) with a phenotype of midventricular obstruction and

49 cause familial hypertrophic cardiomyopathy (FHC), a disease characterized by left-ventricular hypert

50 ked to familial hypertrophic cardiomyopathy (FHC), a primary disease of heart muscle.

51 d with familial hypertrophic cardiomyopathy (FHC), an autosomal dominant disease characterized by lef

52 ent of familial hypertrophic cardiomyopathy (FHC), an autosomal dominant disease characterized by lef

53 ent of familial hypertrophic cardiomyopathy (FHC), and TnT-K273E, a mutation that leads to a progress

54 d with familial hypertrophic cardiomyopathy (FHC), but no study has analyzed variation at this locus

55 sis of familial hypertrophic cardiomyopathy (FHC), eight FHC-linked TnT mutations, which are located

56 cause familial hypertrophic cardiomyopathy (FHC), individuals bearing a mutant cardiac myosin bindin

57 d with familial hypertrophic cardiomyopathy (FHC), we generated transgenic mice that express mutant a

58 ted in familial hypertrophic cardiomyopathy (FHC).

59 d with familial hypertrophic cardiomyopathy (FHC).

60 use of familial hypertrophic cardiomyopathy (FHC).

61 cause familial hypertrophic cardiomyopathy (FHC).

62 sease, familial hypertrophic cardiomyopathy (FHC).

63 d with familial hypertrophic cardiomyopathy (FHC).

64 cause familial hypertrophic cardiomyopathy (FHC).

65 cause familial hypertrophic cardiomyopathy (FHC).

66 cause familial hypertrophic cardiomyopathy (FHC).

67 ype of familial hypertrophic cardiomyopathy (FHC).

68 24 subunits of two types, ferritin H chain (FHC) and ferritin L chain (FLC).

69 -B27 (B27) beta2-microglobulin free H chain (FHC) dimers than other HLA-class I molecules regulates l

70 and peptide and (beta2m free) free H chain (FHC) forms including B27 dimers (termed B27(2)) at the c

71 cated that the protein ferritin heavy chain (FHC) is a critical player in neuronal changes and ensuin

72 pregulation of protein ferritin heavy chain (FHC), a negative intracellular regulator of CXCR4.

73 levels of the protein ferritin heavy chain (FHC), which negatively regulates CXCR4 signaling and aff

74 We identify ferritin heavy chain (FHC)--the primary iron storage factor--as an essential m

75 tor [i.e., the protein ferritin heavy chain (FHC)] of HIV-induced dendritic damage and the resulting

76 0A), colon cancer (HT-29), and normal colon (FHC) cells were incubated with [(14)C]MTHF in culture me

77 e TnTs were produced and purified containing FHC mutations found in several regions of TnT.

78 ifferences between histograms of contracting FHC R58Q and D166V hearts versus corresponding contracti

79 In contrast, FHC mice demonstrated (a) electrocardiographic abnormali

80 Most of the cTnT FHC-related mutations are in or flanking the N-tail TNT1

81 CV1-FHC fibroblasts (vs CV1 fibroblasts) showed enhanced iro

82 For in vivo analysis, CV1-FHC fibroblasts were either mixed with fluorescent human

83 changes in tumor R2 were used to derive CV1-FHC cell fraction in both models.

84 -3) for CV1, 2.3 AU +/- 0.3 x 10(-3) for CV1-FHC, 2.9 +/- 0.3 x 10(-3) for CV1-FHC-ferric citrate).

85 3) for CV1-FHC, 2.9 +/- 0.3 x 10(-3) for CV1-FHC-ferric citrate).

86 Dynamic changes in CV1-FHC cell fraction determined at MR relaxometry in both m

87 ivo revealed preferential recruitment of CV1-FHC cells to the tumor rim in both models.

88 h idiopathic, Fuchs' heterochromic cyclitis (FHC), and herpes-viral or Behcet's uveitis were analyzed

89 ssing human cell line with an iron-deficient FHC mutant confirmed that increased FHC expression dereg

90 uggest that targeting the IL-1beta-dependent FHC increase may represent a valid strategy for neuropro

91 ial hypertrophic cardiomyopathy (FHC), eight FHC-linked TnT mutations, which are located in different

92 d dendritic spine density, and also examined FHC expression and CXCR4 status in opiate abusers and pa

93 ated rodents and isolated neurons expressing FHC shRNA revealed that FHC contributed to morphine-indu

94 The introduction of the mouse model for FHC (the mouse expresses predominantly alpha-MHC as oppo

95 A mouse model for FHC has been widely used to study the mechanochemical pr

96 Transgenic animal models for FHC have been created to gain further insight into the p

97 n larger mammals) created a new paradigm for FHC based on finding enhanced motor function for R403Q a

98 n-associated B27 and B27 free H chain forms (FHC), including disulfide-bonded H chain homodimers (ter

99 a mutation that leads to a progression from FHC to DCM, were investigated.

100 atedly observed abnormalities resulting from FHC TnT mutations include increased unloaded sliding spe

101 Exactly how FHC-associated mutations in cardiac troponin T (cTnT) le

102 in the alpha MHC 403/+ mice resembled human FHC.

103 ne displays many phenotypes similar to human FHC.

104 Familial hypercholanemia (FHC) is characterized by elevated serum bile acid concen

105 Together, these data implicate FHC-dependent deregulation of CXCL12/CXCR4 as a contribu

106 distinct electrophysiologic abnormalities in FHC mice with a specific alpha-myosin mutation, and also

107 d myofilament properties are both altered in FHC mutant mice: more Ca2+ is mobilized to generate forc

108 refore suggest that diastolic dysfunction in FHC may be a direct consequence of FHC mutant protein ex

109 mouse cTnT allele analogous to one found in FHC patients.

110 ense (R92Q) allele analogous to one found in FHC.

111 notype has provided important information in FHC caused by beta-cardiac myosin and cardiac troponin T

112 ascular stress may play an important role in FHC pathogenesis.

113 nable more definitive risk stratification in FHC patients.

114 eficient FHC mutant confirmed that increased FHC expression deregulated CXCR4 signaling and that this

115 ary involvement of IL-1beta in gp120-induced FHC changes.

116 that may explain the observed mutant-induced FHC phenotypes.

117 It has been proposed that RLC induced FHC in the heart originates at the level of the myosin c

118 he R92Q cTnT mutation, a particularly lethal FHC-associated mutation, leads to sufficiently large per

119 contribute to the pathogenesis of TnT-linked FHC through different mechanisms.

120 was the first of many demonstrations linking FHC to mutations in muscle proteins.

121 lled down multimeric, dimeric, and monomeric FHC from HLA-B27-expressing cell lines.

122 Similar to a mouse FHC model expressing a truncated cTnT protein, the left

123 ion (MyBP-C(t/+)) were constructed as murine FHC models using homologous recombination in embryonic s

124 sity of clinical symptoms observed in murine FHC.

125 Because these murine FHC models mimic their human counterparts, we propose th

126 ammatory cytokines directly altered neuronal FHC, gp120 only caused significant FHC upregulation in n

127 Furthermore, silencing of neuronal FHC abrogates the effect of gp120 on spines, and spine d

128 ecessary for sustained elevation of neuronal FHC by the viral protein.

129 ory cytokines implicated in HAND on neuronal FHC levels, dendritic changes, and neurocognitive behavi

130 Approximately 15% of FHC-related mutations are found in cTnT [cardiac troponi

131 We have studied the basis of FHC caused by premature truncation of the most frequentl

132 nction in FHC may be a direct consequence of FHC mutant protein expression.

133 ctility and contribute to the development of FHC.

134 t were developed to determine the effects of FHC mutant Tm on cardiac structure and function from sin

135 new insights into the temporal evolution of FHC.

136 f HIV infection increase brain expression of FHC, leading to cellular and functional changes, and poi

137 in heavy chain (MHC) caused a severe form of FHC was the first of many demonstrations linking FHC to

138 n to magnetite, with subsequent formation of FHC.

139 there are several natural-occurring forms of FHC in animals that will be interesting to explore.

140 ed CXCR4 signaling and that this function of FHC was independent of iron binding.

141 s suggest that the clinical heterogeneity of FHC is at least partially due to allele-specific mechani

142 el may help to define the natural history of FHC.

143 e did not affect gp120-mediated induction of FHC.

144 V patients with HAND had increased levels of FHC, which correlated with reduced CXCR4 activation, wit

145 n in trabeculae from a mutant mouse model of FHC (Arg403Gln knockin, alpha-myosin heavy chain).

146 We report here that a murine model of FHC bearing a cardiac myosin heavy-chain gene missense m

147 ardiac myosin purified from a mouse model of FHC to eliminate potential uncertainties associated with

148 did in vivo analysis using a mouse model of FHC with an Arg403Gln alpha-cardiac myosin heavy chain m

149 A transgenic mouse model of FHC with mutations in the actin-binding domain of the al

150 V dysfunction seen in this TG mouse model of FHC.

151 renergic responsiveness in these 2 models of FHC.

152 Our results suggest modulation of FHC or, more broadly, of iron metabolism as a potential

153 can be mediated by ferritin composed only of FHC (HFt) but not by ferritin composed only of FLC (LFt)

154 egulatory light chain-linked pathogenesis of FHC.

155 m for exploring the cellular pathogenesis of FHC.

156 Our results suggest that the phenotypes of FHC observed in patients harboring these RLC mutations c

157 e that environment influences progression of FHC, and suggest a rational therapeutic approach to this

158 The crucial role of FHC in inhibition of neuronal CXCR4 was confirmed by in

159 ne mechanisms that determine the severity of FHC.

160 contribute to differences in the severity of FHC.

161 surface levels but rather to upregulation of FHC by opioids.

162 ombinant human ventricular wild type (WT) or FHC mutant RLC and examined the ability of the reconstit

163 +) binding compared with wild-type and other FHC mutants (A13T, F18L, E22K, P95A).

164 redicting the clinical consequences of other FHC-causing mutations.

165 cell line (CV1) fibroblasts that overexpress FHC, followed by inductively coupled plasma mass spectro

166 In contrast, the second FHC-linked mutation, R654H (Arg14 in this construct) is

167 neuronal FHC, gp120 only caused significant FHC upregulation in neuronal/glial cocultures, suggestin

168 to change with the location of the specific FHC HCRLC mutation.

169 Two such FHC mutations, R58Q and N47K, located near the cationic

170 We conclude that FHC-causing sarcomere protein gene mutations cause abnor

171 We show here that FHC in Amish individuals is associated with mutations in

172 d neurons expressing FHC shRNA revealed that FHC contributed to morphine-induced dendritic spine loss

173 This work suggests that FHC associated with either D778G or G741R mutation in MH

174 The FHC mice die by 6-8 months of age.

175 The FHC mutations are believed to alter the kinetics of the

176 HCRLC could be significantly altered by the FHC mutations and that their detrimental effects depend

177 ontractility and relaxation in hearts of the FHC mice, with a significant change in left ventricular

178 The presence of the FHC TnT mutant increased the thin filament sliding speed

179 We studied the effect of the FHC-linked R58Q-RLC mutation on the kinetics of transgen

180 Thus, the FHC alpha-TM transgenic mouse can serve as a model syste

181 tizing effect contributes importantly to the FHC pathogenesis.

182 These FHC hearts are characterized by increased heart:body wei

183 hin filaments in solution to show that these FHC mutants result in an increase in Ca(2+) sensitivity

184 These TnT FHC mutants were reconstituted into skinned cardiac musc

185 nt for 20% to 30% of all mutations linked to FHC.

186 o devise a simple method to characterize two FHC phenotypes caused by the R58Q and D166V mutations in

187 The largest effect was seen for the two FHC mutations, N47K and R58Q, located directly in or nea

188 ity of cC5 is most evident in one of the two FHC-linked mutations, N755K (Asn115 in this construct) w

189 L-1beta, TNF-alpha, and HIV gp120 upregulate FHC in rat cortical neurons.

190 elucidating the mechanism(s) associated with FHC-linked RLC mutations.

191 tural abnormalities normally associated with FHC.

192 ic stiffness reported for murine hearts with FHC.

193 The haplotypes of three kindreds with FHC due to an alpha-tropomyosin gene mutation, Asp175Asn

194 and spine density correlates negatively with FHC levels or cognitive deficit.

195 f which are common findings in patients with FHC.

196 ng sequence in 25 normal individuals without FHC.