ライフサイエンスコーパス: ICF

1 ICF (Immunodeficiency, Centromeric instability and Facia

2 ICF (immunodeficiency, centromeric region instability an

3 ICF has been localized to a 9-centimorgan region of chro

4 ICF syndrome is the only genetic disorder known to invol

5 ICF-associated decreases were observed in RNAs encoding

6 ICF-specific increases in immunoglobulin (Ig) heavy cons

7 ICF-specific increases were seen in RNA for RGS1, a B-ce

8 to identify when to implement or suspend an ICF intervention would be valuable.

9 ns were also associated with discharge to an ICF (21.9% vs. 8.9%, P < 0.001).

10 associated with the risk of discharge to an ICF after abdominopelvic operations.

11 Patients discharged to an ICF after surgery had higher 30-day (4.3% vs. 0.4%), 90

12 Patients discharged to an ICF are much more likely to die within the first postope

13 s discharged home, patients discharged to an ICF had 4 times higher 1-year mortality (odds ratio = 3.

14 Of patients who died after discharge to an ICF, the majority died either at the ICF (53.7%) or on a

15 CFS was diagnosed in 41.5% (22/53) and ICF in 13.2% (7/53).

16 F(2)CFIOR(F) at 240 degrees C gave R(F)I and ICF(2)CF(2)COF in high yields.

17 ing the rollout and effectiveness of IPT and ICF is the limitations of existing tools to both diagnos

18 Use of the disablement-enablement model and ICF taxonomy in conjunction with outcomes across disable

19 to determine when to switch between PCF and ICF to efficiently use resources to optimize population

20 The effects exerted on SICI and ICF by four intensities (60-90% of active motor threshol

21 , although the duration of the CSP, SICI and ICF did not change.

22 rtical inhibition and facilitation (SICI and ICF) and long interval intracortical inhibition (LICI).

23 die within the first postoperative year and ICF disposition should be considered as either a marker

24 y, centromere instability, facial anomalies (ICF) syndrome cases, a rare recessive disease characteri

25 , Centromeric instability, Facial anomalies (ICF) syndrome is a chromatin disorder characterized by m

26 entromeric Instability and Facial Anomalies (ICF) syndrome is a genetically heterogeneous autosomal r

27 Centromere instability and Facial anomalies (ICF) syndrome, which is associated with neurologic defic

28 entromere instability, and facial anomalies (ICF) syndrome.

29 ntromeric instability, and facial anomalies (ICF) syndrome.

30 centromere instability and facial anomalies (ICF) syndrome.

31 G6PD in one ICF female and SYBL1 in another ICF female provide the first examples of abnormal escape

32 The recessive autosomal disorder known as ICF syndrome (for immunodeficiency, centromere instabili

33 es in promoter methylation were seen between ICF and normal LCLs for three ICF upregulated genes and

34 alytic domain (null allele) and two carrying ICF-like missense mutations in the catalytic domain.

35 a statistical 2:1 mixture of ICF(2)CF(2)CFHI:ICF(2)CFHCF(2)I.

36 In contrast, ICF syndrome cells with DNMT3B mutations have L1s that a

37 Current ICF targets on the NIF utilize a gold or depleted uraniu

38 lassification of Functioning and Disability (ICF) as a theoretical framework and tested in a sample r

39 A human genetic disorder (ICF syndrome) has recently been shown to be caused by mu

40 acortical inhibition (ICI) and facilitation (ICF) to the biceps brachii muscle proximal to the level

41 hibition (SICI), intracortical facilitation (ICF) and short-interval intracortical facilitation (SICF

42 ition (SICI) and intracortical facilitation (ICF) produced by a paired-pulse TMS, and forearm flexor

43 ition (SICI) and intracortical facilitation (ICF) were evaluated in the left and right M1 before and

44 ition (SICI) and intracortical facilitation (ICF) were evaluated in the masseter muscles of 12 subjec

45 nhibition (ICI), intracortical facilitation (ICF), resting (rMT) and active motor thresholds (aMT) we

46 nhibition (ICI), intracortical facilitation (ICF), the cortical silent period (SP) and spinal recipro

47 discharge to an institutional care facility (ICF) after surgery (age, 65-69 (3.3%); 70-74 (5.7%); 75-

48 ndrome (CFS) and idiopathic chronic fatigue (ICF).

49 strategies include intensified case finding (ICF), TB infection control, antiretroviral therapy (ART)

50 ettings, that more intensified case-finding (ICF) approaches may be needed to control TB transmission

51 development and to create animal models for ICF syndrome, we have generated three mutant alleles of

52 ISIs): 2 and 3 ms for SICI, 10 and 15 ms for ICF and 1-5 ms for SICF.

53 ) were 2 and 3 ms for SICI, 10 and 15 ms for ICF.

54 ies in CpG islands of B cell lines from four ICF patients and their unaffected parents.

55 a (MCSA) and interstitial collagen fraction (ICF) histologically, and ejection fraction by ventriculo

56 Cells from ICF patients who are deficient in one of the DNA methylt

57 hese processes using cell lines derived from ICF syndrome and normal individuals.

58 Here, we generate iPSCs from ICF Type 1 syndrome patient fibroblasts followed by dire

59 B-cell lymphoblastoid cell lines (LCLs) from ICF patients with diverse DNMT3B mutations and on contro

60 s demonstrating inertial confinement fusion (ICF) ignition at the National Ignition Facility (NIF) ha

61 cations such as inertial confinement fusion (ICF).

62 However, ICF could not be obtained because it was masked by bilat

63 However, ICF DNA digests prominently displayed multicopy fragment

64 d intracortical inhibition/facilitation (ICI/ICF) curves.

65 ecreased at higher contraction levels; (iii) ICF was observed only at rest with S1 = 90% AMT; (iv) SI

66 dicating that the methylation abnormality in ICF is restricted to a small portion of the genome.

67 vily methylated at cytosine residues, but in ICF syndrome it is almost completely unmethylated in all

68 ing is also disrupted on the Y chromosome in ICF male cells.

69 h levels of DNA damage at chromosome ends in ICF cells, which are significantly reduced with overexpr

70 also pertain to abnormal gene expression in ICF.

71 Mutations of human DNMT3B are found in ICF syndrome, a developmental defect characterized by hy

72 suggest that abnormally high TERRA levels in ICF syndrome lead to accumulation of telomeric hybrids t

73 methylation in normal cells that was lost in ICF cells, concomitant with loss of repressive histone m

74 l levels of certain histone modifications in ICF cells, particularly ubiquitinated H2AK119.

75 lation and overexpression of NBL2 repeats in ICF samples suggests derangement of methylation-regulate

76 , DNA methylation and chromatin structure in ICF cells remain relatively uncharacterized.

77 whereas INB+rTMSc reduced ICI and increased ICF, and conversely, INB+rTMSi deepened ICI and suppress

78 annot be explained by mutations in the known ICF genes DNA methyltransferase 3B or zinc-finger and BT

79 serum immunoglobulin levels which cause most ICF patients to succumb to infectious diseases before ad

80 e theoretical framework (items with multiple ICF codes), an exploratory PCA was conducted.

81 y the mitotic defects that are a hallmark of ICF syndrome, a disease arising from germline mutations

82 data highlight the genetic heterogeneity of ICF syndrome; however, they provide evidence that all ge

83 I(2) to produce a statistical 2:1 mixture of ICF(2)CF(2)CFHI:ICF(2)CFHCF(2)I.

84 patients regarding the expected outcomes of ICF placement after surgical intervention.

85 NMT3L is not involved in the pathogenesis of ICF syndrome.

86 e examine further the molecular phenotype of ICF cells and report several examples of extensive hypom

87 mice show phenotypes that are reminiscent of ICF patients, including hypomethylation of repetitive se

88 pecify a frequency and duration of rounds of ICF.

89 onstrained and that the incremental yield of ICF is expected to wane over time as the pool of undiagn

90 There was no effect on ICF.

91 There were no effects on ICF, LICI or IHI.

92 Our studies of G6PD in one ICF female and SYBL1 in another ICF female provide the f

93 INB alone had no effect on ICI or ICF, whereas INB+rTMSc reduced ICI and increased ICF, an

94 Although ART has been widely rolled out, ICF and IPT have not.

95 omized study compared the IRB-approved paper ICF for an actual clinical research study with an intera

96 ropane with iodine at 240 degrees C produced ICF(2)CF(2)COF, which was quenched by alcohol, water, or

97 Thermolysis of the ring-opened product ICF(2)CF(2)CFIOR(F) at 240 degrees C gave R(F)I and ICF(

98 In BN rats, ICF was reduced and LVEF increased by AT(1)-ant, and bot

99 In BNK rats, the AT(1)-ant failed to reduce ICF, and its therapeutic effect on LVEF was significantl

100 Using the human sequence to screen ICF kindreds, we discovered mutations in four patients f

101 Second, ICF mutations cause a broad spectrum of biochemical defe

102 t of 32 genes had consistent and significant ICF-specific changes in RNA levels.

103 ked to perturbations of chromatin structure: ICF syndrome, facioscapulohumeral muscular dystrophy and

104 rsely, INB+rTMSi deepened ICI and suppressed ICF.

105 T3B are found in the developmental syndrome, ICF (immunodeficiency, centromeric heterochromatin insta

106 Third, all tested ICF mutations, including the A766P and R840Q variants, r

107 ferent stages of mouse development, and that ICF missense mutations cause partial loss of function.

108 We demonstrate that ICF syndrome cells, which exhibit short telomeres and el

109 The ICF (immunodeficiency, centromeric instability and facia

110 The ICF region is conserved throughout the TRPM family, and

111 e to an ICF, the majority died either at the ICF (53.7%) or on a subsequent hospital admission (31.0%

112 le for channel function, which is called the ICF region.

113 levels for all DNMT3B isoforms, despite the ICF syndrome-linked DNMT3B deficiency causing juxtacentr

114 satellite regions are characteristic for the ICF immunodeficiency syndrome.

115 By contrast, mice homozygous for the ICF mutations develop to term and some survive to adulth

116 ations in the DNMT3B are responsible for the ICF syndrome.

117 ses, we identified a genomic sequence in the ICF region that contains the homologue of the mouse Dnmt

118 ur data suggest that DNMT3B mutations in the ICF syndrome cause lymphogenesis-associated gene dysregu

119 regulated expression of this sequence in the ICF syndrome.

120 Apart from CpG island methylation, the ICF inactive X is basically normal in that it forms a Ba

121 Because the unmethylated state of the ICF inactive X L1s probably reflects their methylation s

122 omal recessive disorder, which is termed the ICF syndrome, for immunodeficiency, centromeric instabil

123 ese hamster ovary cells, suggesting that the ICF gene is conserved in the hamster and promotes de nov

124 common or converging pathways leading to the ICF phenotype.

125 neurogenesis that are highly relevant to the ICF phenotype.

126 e acute transfer of K(+) from the ECF to the ICF, which may be important in exercise or ischemia.

127 We used the ICF to code AGQ item content before mailing the AGQ to a

128 Within the ICF region, 10 amino acid residues form a domain essenti

129 e seen between ICF and normal LCLs for three ICF upregulated genes and one downregulated gene by a qu

130 al gene expression in ICF1-iPSCs relevant to ICF syndrome phenotypes, some directly associated with p

131 that are highly unstable in mitogen-treated ICF lymphocytes and B cell lines.

132 findings demonstrate convergence of the two ICF genes ZBTB24 and CDCA7 at the level of transcription

133 thogenic and molecular mechanisms underlying ICF syndrome.

134 e, lymphoid-specific genes in 10 unexplained ICF cases.

135 Here we show that five unrelated ICF patients have mutations in both alleles of the gene

136 The WHO ICF model was used to categorize outcome measures.

137 consistency across the components of the WHO ICF model.

138 n of Functioning, Disability and Health (WHO-ICF).

139 res, as observed in cells from patients with ICF (Immunodeficiency, Centromeric instability and Facia