ライフサイエンスコーパス: FMF

1 FMF attacks are unique in their sensitivity to the micro

2 FMF is associated with increased risk of mortality after

3 FMF was associated with more than twofold increased risk

4 FMF-knockin (FMF-KI) mice that express chimeric pyrin pr

5 an phagocytes and mice producing pyrin B30.2 FMF variants show that gain of function MEFV mutations b

6 A FMF-knock-in mouse strain that expresses chimeric pyrin

7 could provide substantial protection against FMF pathologies.

8 ifferentiate between indolent and aggressive FMF and confirm the existence of a subgroup of FMF with

9 Distinction between indolent and aggressive FMF may have important therapeutic consequences but is h

10 armins through gasdermin D pores' amplifying FMF pathology.

11 imated 70% increase in the odds of having an FMF attack on the second day (95% confidence interval: 1

12 02; 5-year and 10-year OS, 55% and 28%); and FMF presenting with extracutaneous disease (group C; n =

13 CAPS and FMF, however, result in largely different clinical manif

14 ing mediators, we studied PBMC from HIDS and FMF patients in the inactive phase of disease.

15 roduction by unstimulated PBMC from HIDS and FMF patients supports the likelihood of different pathog

16 ctivating agents and show that wild-type and FMF Pyrin are differentially controlled by microtubules.

17 was not overrepresented in Armenian or Arab FMF carriers.

18 g factors in attacks in a sample of Armenian FMF patients in Yerevan, Armenia, where 104 patients con

19 become activated from ECM scaffolds such as FMF is crucial to elucidate pathomechanisms characterize

20 nic causes of inflammatory diseases, such as FMF, PAPA, TRAPS, and HIDS, has elucidated the pathophys

21 t improvement of clinical parameters in both FMF-CP and CP groups after periodontal treatment.

22 evealed a biochemical pathway common to both FMF and PAPA.

23 /IL-1beta construct, an effect diminished by FMF-associated B30.2 mutations and in B30.2 deletion mut

24 the interaction, and binding was reduced by FMF-associated B30.2 mutations.

25 We recently identified the gene causing FMF, designated MEFV, and found it to be expressed in ma

26 ic features, even in the absence of clinical FMF.

27 substantial number of patients with clinical FMF possess only 1 demonstrable MEFV mutation.

28 om 13 patients with FMF with generalized CP (FMF-CP), 15 systemically healthy patients with generaliz

29 tivation and its consequent role in distinct FMF pathologies.

30 REDD1) is significantly overexpressed during FMF attacks.

31 Here we explore the capability of employing FMF for long distance quantum communication.

32 tory diseases: familial Mediterranean fever (FMF) and hyperimmunoglobulinemia D syndrome (HIDS).

33 rders, such as familial Mediterranean fever (FMF) and Pyrin-associated autoinflammation with neutroph

34 Familial Mediterranean fever (FMF) and the hyperimmunoglobulinemia D and periodic feve

35 ho experienced familial Mediterranean fever (FMF) and their response to non-surgical periodontal ther

36 ome (HIDS) and familial Mediterranean fever (FMF) are both characterized by attacks of periodic fever

37 of the common familial Mediterranean fever (FMF) gene MEFV mutations were excluded.

38 Familial Mediterranean fever (FMF) has traditionally been considered an autosomal-rece

39 Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes o

40 Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes o

41 Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes o

42 Familial Mediterranean fever (FMF) is a recessive disorder of inflammation caused by m

43 Familial Mediterranean fever (FMF) is a recessively inherited autoinflammatory disorde

44 Familial Mediterranean fever (FMF) is a recessively inherited disorder characterized b

45 Familial Mediterranean fever (FMF) is an archetypal autoinflammatory disorder, which i

46 Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by homozygous

47 Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by mutations

48 Familial Mediterranean fever (FMF) is an autosomal recessive disease due to mutations

49 Familial Mediterranean fever (FMF) is an IL-1beta-dependent autoinflammatory disease c

50 Familial Mediterranean Fever (FMF) is an inherited autoinflammatory disorder character

51 Familial Mediterranean fever (FMF) is an inherited disorder characterized by recurrent

52 f serositis in familial Mediterranean fever (FMF) is not completely understood.

53 Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disea

54 urrounding the familial Mediterranean fever (FMF) locus.

55 matory disease Familial Mediterranean Fever (FMF) map to exon 10 encoding the B30.2 domain.

56 In familial Mediterranean fever (FMF) MEFV mutations lead to gain of pyrin function, resu

57 patients with familial Mediterranean fever (FMF) that is resistant to or intolerant of colchicine.

58 patients with familial Mediterranean fever (FMF) who reach end-stage renal disease (ESRD) due to rea

59 ate region for familial Mediterranean fever (FMF), a recessively inherited disorder of inflammation l

60 e gene causing familial Mediterranean fever (FMF), a recessively inherited disorder of inflammation.

61 Familial Mediterranean fever (FMF), an autoinflammatory disorder, is associated with m

62 Familial Mediterranean fever (FMF), caused by mutations in the pyrin-encoding MEFV gen

63 of pyrin cause familial Mediterranean fever (FMF), the most common Mendelian autoinflammatory disease

64 g the gene for familial Mediterranean fever (FMF), we identified a number of transcripts from a 275-k

65 ecipients with familial Mediterranean fever (FMF)-associated AA amyloidosis.

66 ecipients with familial Mediterranean fever (FMF)-associated AA amyloidosis.

67 atory disorder Familial Mediterranean Fever (FMF).

68 utations cause Familial Mediterranean Fever (FMF).

69 Familial Mediterranean fever (FMF); is an autosomal recessively inherited autoinflamma

70 Familial Mediterranean fever (FMF; MIM 249100) is an autosomal recessive disease chara

71 elian gene for Familial Mediterranean Fever [FMF]) were found in 6 MGBB participants with FSGS, all o

72 on multiplexing (SDM) using few-mode fibers (FMF) has been proposed and demonstrated.

73 und extended haplotype homozygosity flanking FMF-associated mutations, indicating evolutionarily rece

74 14 periodontally healthy patients with FMF (FMF-HC).

75 rom specific cell subsets within follicular (FMF) and dermal (classic MF) regions of interest to comp

76 A candidate gene for FMF was identified by positional cloning and named "MEFV

77 The gene responsible for FMF--MEFV--has been identified and its role in inflammat

78 been independently identified by the French FMF Consortium, and the others are novel.

79 ical pyrin stimuli and in myeloid cells from FMF-KI mice.

80 e substantially increased in leukocytes from FMF patients compared with healthy controls.

81 ystem for folliculotropic mycosis fungoides (FMF) has been purported to better estimate survival comp

82 ents with folliculotropic mycosis fungoides (FMF) have a worse prognosis than patients with classic m

83 Pyrin variants harboring FMF-associated B30.2 mutations were cleaved more efficie

84 n 46 patients diagnosed clinically as having FMF and carrying only 1 high-penetrance FMF mutation.

85 s in the inflammasome adaptor Pyrin, but how FMF mutations alter signaling in FMF patients is unknown

86 n and those with a double mutation; however, FMF patients of both types showed higher protein express

87 v(V726A/V726A)) was generated to model human FMF.

88 mation similar to but more severe than human FMF.

89 he contributes to the clinical aggression in FMF is unclear.

90 The possibility of prevention of attacks in FMF needs to be tested through stress-reduction interven

91 e unique therapeutic effect of colchicine in FMF may be dependent on this interaction.

92 eukin-1 is a key proinflammatory cytokine in FMF.

93 onocytes and highlights its dysregulation in FMF.

94 tic CD4 T cells around the hair follicles in FMF had a highly inflammatory phenotype, better adaptati

95 ional, autoinflammatory pathways involved in FMF.

96 S100A8/A9 levels in FMF patients were quantified by enzyme-linked immunosorb

97 us T-cell lymphoma-associated macrophages in FMF exhibited an immunosuppressive phenotype with decrea

98 uding 5 newly identified microsatellites, in FMF families.

99 which is a differentially expressed miRNA in FMF patients, by using inflammation related functional a

100 Pyrin, the protein mutated in FMF, regulates caspase-1 activation and consequently IL-

101 ysaccharide alone, which is also observed in FMF patients.

102 ncrease in the levels of TNF are observed in FMF-KI mice, and many features of FMF overlap with the a

103 ce of this novel autoinflammatory pathway in FMF.

104 in, but how FMF mutations alter signaling in FMF patients is unknown.

105 hat are substantially higher in HIDS than in FMF.

106 ived from the PBMC of patients with inactive FMF.

107 d as an unusual case of dominantly inherited FMF.

108 nts with colchicine-resistant or -intolerant FMF.

109 transcribed sequences isolated from a 315-kb FMF central region (between D16S468/D16S3070 and cosmid

110 FMF-knockin (FMF-KI) mice that express chimeric pyrin protein with FM

111 data were distinguished: early skin-limited FMF (group A; n = 84; 5-year and 10-year OS, 92% and 72%

112 year OS, 92% and 72%); advanced skin-limited FMF (group B; n = 102; 5-year and 10-year OS, 55% and 28

113 d polarization entanglement over a 1-km-long FMF.

114 Y. pestis-infected Mefv(M680I/M680I) FMF knock-in mice exhibited IL-1-dependent increased sur

115 re clinically aggressive folliculotropic MF (FMF), malignant T cells localize to follicular epitheliu

116 to the extracellular fibrillin microfibril (FMF) components fibrillin-1 and -2 represents a BMP sequ

117 tion by targeted S100A9 deletion in a murine FMF model demonstrated the relevance of this novel autoi

118 ssion as compared with controls and with non-FMF patients with active inflammation.

119 Notably, FMF mutations lifted the requirement for prolonged primi

120 iscuss the clinical and molecular aspects of FMF in Arabs.

121 count for a large percentage of the cases of FMF and suggest that some of these mutations arose befor

122 fic IL-1 cytokine instigating development of FMF and the enzymatic caspase involved in its secretion

123 ce of clinical symptoms for the diagnosis of FMF and the initiation of a trial of colchicine.

124 the synchronous inflammatory environment of FMF attack leads to intracellular production of IL-1beta

125 bserved in FMF-KI mice, and many features of FMF overlap with the autoinflammatory disorder associate

126 ing the more aggressive clinical features of FMF versus classic MF.

127 Differences in the frequency of FMF attacks and adverse events between rilonacept and pl

128 Rilonacept reduces the frequency of FMF attacks and seems to be a treatment option for patie

129 Another hallmark of FMF is extraordinarily high expression of S100A8 and S10

130 The phenotypic heterogeneity of FMF disease suggests that FMF may not be a monogenic dis

131 Small sample size, heterogeneity of FMF mutations, age, and participant indication (colchici

132 -fat diet did not increase the likelihood of FMF attacks.

133 ted IL-1beta release in the manifestation of FMF.

134 inflammatory pathway for the pathogenesis of FMF is unknown.

135 mpact of S100A8/A9 to the pathophysiology of FMF was analyzed with FMF (MEFV(V726A/V726A)) and S100A9

136 ted upon microtubule disassembly in PBMCs of FMF patients but not in cells of patients afflicted with

137 g FMF and enables immunological screening of FMF mutations.

138 evolutionarily recent positive selection of FMF-associated mutations.

139 F and confirm the existence of a subgroup of FMF with a favorable prognosis.

140 ore the existence of a significant subset of FMF patients who are carriers of only 1 MEFV mutation an

141 ving FMF and carrying only 1 high-penetrance FMF mutation.

142 ronmental differences between perifollicular FMF and dermal classic MF regions, we analyzed patient s

143 Multiple stressful life events predicted FMF attacks 2 days following the event.

144 associated with the transmission of a second FMF allele.

145 Distinction between early plaque-stage FMF and advanced plaque-stage FMF was made by a blinded

146 ients with histologically early plaque-stage FMF had a very similar overall survival (OS) rate to pat

147 ts with histologically advanced plaque-stage FMF was almost identical to that of patients presenting

148 y plaque-stage FMF and advanced plaque-stage FMF was made by a blinded review of skin biopsy specimen

149 Subdividing FMF into early and advanced cutaneous stages was associa

150 wnstream of Pyrin dephosphorylation and that FMF mutations enable microtubule-independent assembly of

151 Thus, findings suggest that FMF is a heterogeneous disease with early and advanced c

152 c heterogeneity of FMF disease suggests that FMF may not be a monogenic disease, suggesting that epig

153 The FMF gene (MEFV) encodes a novel 781 amino acid protein;

154 The FMF gene (MEFV) was cloned recently, and four missense m

155 The FMF gene, MEFV, was recently identified by positional cl

156 y founder haplotype analysis, to contain the FMF gene.

157 ning approximately 1050 kb that contains the FMF critical region.

158 en two major developments in this field: the FMF gene was identified on chromosome 16p by positional

159 There were 107 patients in the FMF-amyloidosis group and 126 patients with GN group.

160 4.2-years follow up; all 28 patients in the FMF-amyloidosis group and 14/19 patients with GN develop

161 rum-TOS and serum-OSI levels of those in the FMF-CP and CP groups at baseline and 6 weeks (P >0.05).

162 The GCF-TOS level in the FMF-CP group was significantly higher than that in the F

163 Serum-TAS levels in the FMF-CP group were significantly higher than those in the

164 up was significantly higher than that in the FMF-HC group at baseline and 6 weeks.

165 mic wasting, anemia, and neutrophilia in the FMF-KI mice.

166 ucted a 1-Mb cosmid contig that includes the FMF critical region.

167 only has permitted the identification of the FMF gene (MEFV), but also has provided us an opportunity

168 were significantly reduced in members of the FMF-CP group (P <0.05).

169 The GCF-TAS levels in members of the FMF-CP group were significantly higher than those of mem

170 These methods place the FMF susceptibility gene within 0.305 cM of D16S246 (2-LO

171 mately 700 kb of genomic DNA surrounding the FMF locus was assembled.

172 nd ZNF210 are 10 and 120 kb telomeric to the FMF gene, respectively.

173 tly higher in the CP group compared with the FMF-CP group (P <0.05).

174 Thus, FMF mutations that were positively selected in Mediterra

175 iods, and high-fat food consumption prior to FMF attacks and on attack-free random days.

176 The binding of 14-3-3 and PKN proteins to FMF-associated mutant pyrin was substantially decreased,

177 a truncated pyrin molecule that, similar to FMF patients, retains the full PYRIN domain.

178 des a conceptual framework for understanding FMF and enables immunological screening of FMF mutations

179 We observed a unique FMF haplotype common to Iraqi Jews, Arabs, and Armenians

180 ever, it remains controversial as to whether FMF is due to the loss of an inhibitor of inflammation o

181 116.6 +/- 67.5 months 11 patients (55%) with FMF died versus 26 patients (31%) in the control group.

182 the pathophysiology of FMF was analyzed with FMF (MEFV(V726A/V726A)) and S100A9(-/-) mouse models.

183 f perceived stress were also associated with FMF attacks.

184 at D16S246 was significantly associated with FMF in Moroccan and non-Moroccan Jews but not in Armenia

185 the poor prognosis initially associated with FMF only applies to the advanced cutaneous stage.

186 te phase response seen in HIDS compared with FMF reflects greater production of acute phase protein-i

187 a high degree of linkage disequilibrium with FMF, was sequenced to completion, and the sequence annot

188 essed acute-phase proteins in a patient with FMF and amyloidosis.

189 , and 14 periodontally healthy patients with FMF (FMF-HC).

190 The outcomes of 20 patients with FMF and biopsy-proven AA amyloidosis that were transplan

191 h Italian and Ashkenazi Jewish patients with FMF and other affected populations.

192 Most patients with FMF carry missense mutations in the C-terminal half of t

193 Neutrophils from patients with FMF during remission are resistant to autophagy-mediated

194 Overall, 220 patients with FMF had been registered, but 17 patients with incomplete

195 lthy controls, leukocytes from patients with FMF harboring homozygous or compound heterozygous mutati

196 MB) staging system to classify patients with FMF in a clinically meaningful way.

197 This cohort study assessed 195 patients with FMF in the dermatopathology database of the University o

198 peripheral neutrophils from 3 patients with FMF isolated both during attacks and remission, 8 patien

199 ral blood mononuclear cells of patients with FMF or HIDS was attenuated by activation of PKN1 and PKN

200 Median time of death for patients with FMF was 61 months (range, 16-81) after transplantation.

201 tudies described a subgroup of patients with FMF with a more favorable prognosis.

202 Data were obtained from 13 patients with FMF with generalized CP (FMF-CP), 15 systemically health

203 ctive clinical picture in Arab patients with FMF, and the range and distribution of MEFV mutations is

204 d TNF-alpha than did PBMC from patients with FMF, but unstimulated PBMC from the latter group release

205 cohort study, we followed 203 patients with FMF, included in the Dutch Cutaneous Lymphoma Registry b

206 5%, and 39%, respectively, for patients with FMF, versus 84%, 68% and 63%, respectively, for the cont

207 Patients with FMF-amyloidosis are at increased risk of early CVDEs wit

208 s higher (95% CI 1.02-7.76) in patients with FMF-amyloidosis.

209 of the present study show that patients with FMF-CP displayed reduced oxidative stress and increased

210 VDEs) and survival between the patients with FMF-related AA amyloidosis and glomerulonephropathies (G

211 atify the risk of early CVD in patients with FMF-related AA amyloidosis.

212 majority of mutations found in patients with FMF.

213 se of death in the majority of patients with FMF.

214 extracellular traps (NETs) in patients with FMF.

215 ion of inflammatory attacks in patients with FMF.

216 ice that express chimeric pyrin protein with FMF mutation (MefvV726A/V726A) exhibit an autoinflammato

217 21 propensity score-matched recipients with FMF amyloidosis with no laboratory signs of recurrence (

218 propensity score matched 21 recipients with FMF-amyloidosis with no laboratory signs of recurrence (

219 Eighty-one renal transplant recipients with FMF-associated AA amyloidosis (group 1) and propensity s

220 A prospective follow-up study with FMF-amyloidosis and glomerulonephropathy (GN) was perfor