ライフサイエンスコーパス: RHD

1 RHD complications and mortality rates were higher for ur

2 Another 32 (6.1%) RHD cases harbored large gene-disrupting CNVs that were

3 splasia (RHD) and replicated findings in 330 RHD cases from two independent cohorts.

4 dertaken in 1263 Aboriginal Australians (398 RHD cases; 865 controls).

5 All together, 55/522 (10.5%) RHD cases harbored 34 distinct known genomic disorders,

6 After RHD diagnosis, 27% developed heart failure within 5 year

7 ications was highest in the first year after RHD diagnosis: heart failure incidence rate per 100 pers

8 lleles may confer protective effects against RHD.

9 There was significant evidence for an RHD maternal-fetal genotype incompatibility, and the inc

10 ); the DVIcE transcripts are derived from an RHD gene where exons 4 and 5 are replaced by RHCE equiva

11 at the DVICe transcripts are derived from an RHD gene where exons 4-6 have been replaced with RHCE eq

12 nd RHD genes and have defined the site of an RHD-specific deletion located in this intron.

13 lymorphisms, while it has been shown that an RHD gene deletion can generate the D-negative phenotype.

14 antiproliferative or apoptotic activity, and RHD-defective (K83N, N109D) mutant RUNX1 conferred resis

15 igenous population has high rates of ARF and RHD allowed us to examine current disease incidence and

16 stralians in the Northern Territory, ARF and RHD incidence and associated mortality remain very high.

17 ARF and RHD incidence rates, ARF recurrence rates, progression r

18 rates from ARF to RHD to heart failure, and RHD survival and mortality rates were calculated for Nor

19 The molecular association between HLA and RHD was investigated in patients with defined clinical o

20 acterize the difference between the RHCE and RHD antigens.

21 We have analyzed intron 4 of the RHCE and RHD genes and have defined the site of an RHD-specific d

22 the theoretical results, the human RHCE and RHD genes are considered.

23 in these same regions, whereas few, if any, RHD patients with normal timing had similar lesion distr

24 important new prognostic information for ARF/RHD.

25 The median age at RHD diagnosis in Indigenous people was young, especially

26 nzyme A-disulfide reductase isoform (BaCoADR-RHD) containing a C-terminal RHD domain; this is the fir

27 trast to the B. anthracis CoADR, the BaCoADR-RHD isoform does not catalyze the reduction of coenzyme

28 Borderline RHD was identified in children at both low and high risk

29 Children with mild definite and borderline RHD showed 26% and 9.8% echocardiographic progression an

30 e interval, 6.0-12.0]) and 66 for borderline RHD (prevalence, 16.7 per 1000 [95% confidence interval,

31 e RHD, and 5 met the criteria for borderline RHD.

32 e more likely to have definite or borderline RHD than low-risk children (adjusted odds ratio, 5.7 [95

33 f those with mild definite RHD or borderline RHD, more advanced disease category, younger age, and mo

34 one of the largest single-country childhood RHD prevalence studies and the first to be conducted in

35 years, 69% were women, and 82% had clinical RHD.

36 generating the D- phenotype to the complete RHD gene deletion described previously.

37 generating the D- phenotype to the complete RHD gene deletion described previously.

38 In contrast, RHD interfered with online corrections to the final posi

39 with left (LHD) and right hemisphere damage (RHD).

40 Using linked data (RHD register, hospital, and mortality data) for resident

41 retention in care-possibly by decentralizing RHD services-would have the greatest impact on uptake of

42 World Heart Federation criteria for definite RHD (prevalence, 8.6 per 1000 [95% confidence interval,

43 children, none met the criteria for definite RHD, and 5 met the criteria for borderline RHD.

44 ldren with both borderline and mild definite RHD are at substantial risk of progression.

45 Of those with mild definite RHD or borderline RHD, more advanced disease category, y

46 expected in our population, and no definite RHD was identified in the low-risk group.

47 The prevalence of definite RHD in high-risk Indigenous Australian children approxim

48 (55.4%) with possible, probable, or definite RHD; 18 (13.8%) with congenital heart disease; and 40 (3

49 Of children with moderate-to-severe definite RHD, 47.6% had echocardiographic progression (including

50 This study suggests that definite RHD, as defined by the World Heart Federation criteria,

51 ters were elevated in children with definite RHD.

52 We used these guidelines to determine RHD prevalence in a large cohort of Ugandan school child

53 After a first ARF diagnosis, 61% developed RHD within 10 years.

54 Rheumatic heart disease (RHD) after group A streptococcus (GAS) infections is her

55 tic fever (ARF) and rheumatic heart disease (RHD) and the effect of comorbidities and demographic fac

56 tic fever (ARF) and rheumatic heart disease (RHD) are autoimmune sequelae of upper respiratory infect

57 Rheumatic heart disease (RHD) is a leading cause of premature death and disabilit

58 aphic screening for rheumatic heart disease (RHD) is becoming more widespread, but screening studies

59 I associations with rheumatic heart disease (RHD) may have been due to inaccuracies of serological ty

60 Rheumatic heart disease (RHD) remains a major public health problem worldwide.

61 -risk patients with rheumatic heart disease (RHD) who were undergoing valve replacement surgery (VRS)

62 RF) and its sequel, rheumatic heart disease (RHD), continue to cause a large burden of morbidity and

63 ce a high burden of rheumatic heart disease (RHD).

64 clinically detected rheumatic heart disease (RHD).

65 early diagnosis of rheumatic heart disease (RHD).

66 Rabbit hemorrhagic disease (RHD) is a veterinary disease that affects the European r

67 (RHD) of RelA, but not to the more divergent RHDs of p50/NF-kappaB1, p52/NF-kappaB2, or RelB.

68 ation domain called the Rel homology domain (RHD) and a C-terminal transactivation domain (TAD).

69 ysis revealed that the runt homology domain (RHD) and a C-terminal transcriptional repression domain

70 MsRel2B contain only a Rel homology domain (RHD) and lack the ankyrin-repeat inhibitory domain.

71 interacted with Relish-Rel-homology domain (RHD) but not with Dorsal-RHD.

72 on of p50 with a mutant Rel-homology domain (RHD) defective for DNA binding led to synergistic activa

73 erminal portion of the Runt homology domain (RHD) in AML1 proteins and determined that the N-terminal

74 ator of G protein signaling homology domain (RHD) is highly correlated with establishment of the acti

75 hat interacted with the Rel homology domain (RHD) of NF-ATp was identified with the use of a two-hybr

76 C25 interacted with the Rel Homology domain (RHD) of p65/RelA and promotes the degradation of p65/Rel

77 enic phenotype upon the Rel homology domain (RHD) of RelA, but not to the more divergent RHDs of p50/

78 hat is dependent on the Rel homology domain (RHD) of RelB.

79 ral similarity with the Rel homology domain (RHD) of the mammalian transcription factor NF-kappaB.

80 e that stability of the Rel homology domain (RHD) within the N-terminal portion of the NF-kappa B 1 p

81 NX1 required an intact runt homology domain (RHD), a domain where most leukemia-associated point muta

82 amino acids called the Rel Homology Domain (RHD), which governs DNA binding, dimerization, and bindi

83 contains an N-terminal Rel homology domain (RHD), which is responsible for DNA binding and regulated

84 main and the N-terminal Rel homology domain (RHD).

85 teraction of the RUNX1 Runt-Homology-Domain (RHD) with the core-binding factor beta protein (CBFbeta)

86 Rhodanese homology domains (RHDs) play important roles in sulfur trafficking mechani

87 proteins contain reticulon homology domains (RHDs) that have unusually long hydrophobic segments and

88 el-homology domain (RHD) but not with Dorsal-RHD.

89 branching pattern of the right hepatic duct (RHD) was typical in 55.3% of subjects.

90 ultrasound (FCU) to a reference approach for RHD screening in a school children population.

91 hensively describe the treatment cascade for RHD in Uganda to identify appropriate targets for interv

92 A1-DQB1 is the major genetic risk factor for RHD in Aboriginal Australians studied here.

93 group of Australian children at low risk for RHD.

94 ning new perspectives for mass screening for RHD in low-resource settings.

95 s acceptable sensitivity and specificity for RHD detection when compared with the state-of-the-art ap

96 rio log-linear modeling approach to test for RHD maternal-fetal genotype incompatibility and to disti

97 is preferentially recognized by T cells from RHD patients and demonstrates that exposure to streptoco

98 ripheral blood mononuclear cells (PBMC) from RHD patients to human myocardial proteins in a T-cell We

99 are associated with risk or protection from RHD and that these associations appear to be stronger an

100 By introducing point mutations in the GRK5 RHD-kinase domain interface, we show with both in silico

101 s with focal left (LHD) or right hemisphere (RHD) lesions and control subjects performed two time per

102 e a gene conversion event generates a hybrid RHD-RHCE-RHD gene; the second (in individuals of DVIccEe

103 In two individuals we have found hybrid RHD-RHCE-RHD transcripts in both DVICe and DVIcE haploty

104 Renal agenesis and hypodysplasia (RHD) are major causes of pediatric chronic kidney diseas

105 in 192 individuals with renal hypodysplasia (RHD) and replicated findings in 330 RHD cases from two i

106 dney tissue can lead to renal hypodysplasia (RHD), but the underlying causes of RHD are not well unde

107 n of the less common haplotypes, but only if RHD lies 3' of RHCE, i.e. the order is C-E-D.

108 improved secondary prophylaxis; a decline in RHD incidence is expected to follow.

109 he residual Indigenous survival disparity in RHD patients, which persisted after accounting for comor

110 ewed toward larger gene-disrupting events in RHD cases compared to 4,733 ethnicity-matched controls (

111 APHs play a previously unrecognized role in RHD membrane curvature stabilization.

112 For Indigenous RHD patients, the relative survival rate was 88.4% at 10

113 higher among Indigenous than non-Indigenous RHD patients (hazard ratio, 6.55; 95% confidence interva

114 uals we have identified an apparently intact RHD gene.

115 Latent RHD is a heterogeneous diagnosis with variable disease o

116 emains unclear, the initial change in latent RHD may be evident during the first 1 to 2 years followi

117 llin prophylaxis on the trajectory of latent RHD.

118 Blinded review confirmed 227 cases of latent RHD: 164 borderline and 63 definite (42 mild, 21 moderat

119 Children with moderate to severe latent RHD have poor outcomes.

120 Children with latent RHD and >/=1 year of follow-up were included.

121 outcomes of a cohort of children with latent RHD and identify risk factors for unfavorable outcomes.

122 Cee) illustrates the presence of full-length RHD transcripts, which have a point mutation at nucleoti

123 Lower socioeconomic groups had more RHD (2.7% versus 1.4%; P=0.036) and more advanced diseas

124 e confirmed the interaction between MsDorsal-RHD and MsRel2-RHD, and suggesting that Dorsal and Rel2

125 More importantly, co-expression of MsDorsal-RHD with MsRel2-RHD suppressed activation of several M.

126 interaction between MsDorsal-RHD and MsRel2-RHD, and suggesting that Dorsal and Rel2 may form hetero

127 y, co-expression of MsDorsal-RHD with MsRel2-RHD suppressed activation of several M. sexta AMP gene p

128 Using a multiplex RHD typing assay, which combines a reverse polymerase ch

129 digrees with isolated familial, nonsyndromic RHD and screened for mutations in candidate genes involv

130 rdiography detected 3 times as many cases of RHD as auscultation: 72 (1.5%) versus 23 (0.5%; P<0.001)

131 ysplasia (RHD), but the underlying causes of RHD are not well understood.

132 graphy-based screening improves detection of RHD in endemic regions.

133 The sensitivity of FCU for the detection of RHD was 83.7% (95% confidence interval, 73.3-94.0) for n

134 teria for the echocardiographic diagnosis of RHD.

135 e distribution was determined in 2 groups of RHD patients (n=88) and a control group (n=59).

136 rt a genome-wide association study (GWAS) of RHD susceptibility in 2,852 individuals recruited in eig

137 ng molecular mimicry as the key mechanism of RHD pathogenesis.

138 L as genes implicated in the pathogenesis of RHD.

139 wever, PBMC from a significant percentage of RHD patients (40%) responded to a discrete band of myoca

140 h rheumatogenic GAS caused the percentage of RHD patients responding to the 50- to 54-kDa myocardial

141 We aimed to establish the prevalence of RHD in high-risk Indigenous Australian children using th

142 ening echocardiography hinges on the rate of RHD progression and the ability of penicillin prophylaxi

143 ated with a 1.4-fold increase in the risk of RHD (odds ratio 1.43, 95% confidence intervals 1.27-1.61

144 scriptional control, we analyzed a series of RHD mutations in S2 cells and embryos.

145 little evidence that the incidence of ARF or RHD had declined.

146 with left or right hemisphere damage (LHD or RHD), we examined the ability: (i) to plan reaching move

147 We also analyzed the role of other RHD genes and the plant hormones auxin and ethylene in R

148 ) encodes Rh CcEe antigens, while the other (RHD) the D antigen.

149 ported phospho-acceptor sites within the p65 RHD.

150 sion of IkappaB kinase beta (IKKbeta) or p65-RHD causes nuclear translocation of NFATc1, and expressi

151 Overexpression of the p65-RHD disrupts the association between endogenous p65 and

152 this phenotype is not generated by a partial RHD gene deletion, but occurs by a similar mechanism to

153 type) was proposed to be caused by a partial RHD gene deletion.

154 Physcomitrella patens RHD SIX-LIKE1 (PpRSL1) and PpRSL2 transcription factors

155 -affinity RNA aptamers against a recombinant RHD-CBFbeta complex.

156 he RHD required to stabilize the recombinant RHD-CBFbeta complex and thus will further aid exploring

157 plexes differed from that in wild-type c-Rel-RHD/p50 complexes, and correlated with activated transcr

158 owed that co-expression of MsFkh with Relish-RHD did not have an additive effect on the activity of m

159 In addition to previously reported RHD-causing genes, we found that two affected brothers w

160 conversion event generates a hybrid RHD-RHCE-RHD gene; the second (in individuals of DVIccEe phenotyp

161 wo individuals we have found hybrid RHD-RHCE-RHD transcripts in both DVICe and DVIcE haplotypes.

162 ection might be working to maintain the RHCE/RHD antigen variation in the two-locus system.

163 f progression from ARF to RHD to severe RHD, RHD complication rates (heart failure, endocarditis, str

164 tes of progression from ARF to RHD to severe RHD, RHD complication rates (heart failure, endocarditis

165 echocardiographically diagnosed subclinical RHD is needed.

166 soform (BaCoADR-RHD) containing a C-terminal RHD domain; this is the first structural representative

167 nd faster secondary peak velocities, and the RHD group produced deficits in final error only.

168 ternal-fetal genotype incompatibility at the RHD locus in schizophrenia.

169 1 patient-father pairs were genotyped at the RHD locus.

170 ences (amino acids (aa) 323-422) between the RHD and TAD as a REL inhibitory domain (RID) because del

171 pparently inhibitory interaction between the RHD and the CTD and eliminate both activation and repres

172 To determine if the RHD has a direct role in transcriptional control, we ana

173 plicate previous findings that implicate the RHD locus in schizophrenia, and the candidate-gene desig

174 est of switching nonspatial attention in the RHD but not the LHD patients, despite attention deficits

175 y of the known CNV disorders detected in the RHD cohort have previous associations with developmental

176 1*0103-DQB1*0603 haplotype was absent in the RHD sample.

177 ffect from a high-risk allele at or near the RHD locus and from a direct maternal effect alone.

178 ssociation with schizophrenia at or near the RHD locus nor any evidence to support the role of matern

179 gene transfer using cDNA transcripts of the RHD and RHCE genes resulted in the isolation of K562 clo

180 by 25 A from the active-site Cys514' of the RHD domain from the complementary subunit.

181 Overexpression of the RHD domains of MsDorsal and MsRel2 in Drosophila melanog

182 critical role of the unique structure of the RHD for the survival of p50 during proteosomal processin

183 CR assays assume the complete absence of the RHD gene in D- phenotypes.

184 a pair of primers located in exon 10 of the RHD gene, we have analyzed 357 different genomic DNA sam

185 A total of 27.3% of the RHD patients had hypoalbuminemia.

186 At the C-terminal end of the RHD, each protein has a nuclear localization signal (NLS

187 nteraction surfaces on opposite faces of the RHD.

188 reagents that target a novel surface on the RHD required to stabilize the recombinant RHD-CBFbeta co

189 he p50 and RelA family members show that the RHD consists of two regions: an N-terminal section which

190 duction in ARF recurrence indicates that the RHD control program has improved secondary prophylaxis;

191 sent the first direct demonstration that the RHD gene encodes the D and G antigens and the RHCE gene

192 study provides increasing evidence that the RHD locus increases schizophrenia risk through a materna

193 provide some of the first evidence that the RHD plays an active role in transcriptional regulation i

194 These bind to the RHD subunit and disrupt its interaction with CBFbeta, wh

195 iomyocytes, and this interaction maps to the RHD within p65.

196 the transfer of reducing equivalents to the RHD, with the swinging pantetheine arm serving as a ca.

197 portion of the NF-kappa B 1 protein when the RHD is destabilized.

198 hosphorylation of serine residues within the RHD modulates transcriptional activity in a cis-acting e

199 reaction (PCR) primer, which straddles this RHD-specific sequence, and a pair of primers located in

200 urrence rates, progression rates from ARF to RHD to heart failure, and RHD survival and mortality rat

201 ence rates, rates of progression from ARF to RHD to severe RHD, RHD complication rates (heart failure

202 Progression to RHD was also highest (incidence, 35.9) in the first year

203 Consistent with this, two RHD-defective RUNX1 proteins lacked any antiproliferativ

204 METHODS AND Using data from the Uganda RHD Registry (n=1504), we identified the proportion of p

205 al history study conducted under the Ugandan RHD registry.

206 individuals diagnosed with ARF and 1248 with RHD in 1997 to 2013 (94.9% Indigenous).

207 tations in genes known to be associated with RHD in 7/202 case subjects.

208 To identify genes associated with RHD, we performed an exome-wide association study with 1

209 Children with RHD were older (10.1 versus 9.3 years; P=0.002).

210 rs; 49.6% male), 49 (4%) were diagnosed with RHD by the reference approach.

211 In an additional affected individual with RHD and a congenital heart defect, we found a homozygous

212 Lesion overlays of patients with RHD and impaired timing showed that 100% of the patients

213 f antibiotic prophylaxis among patients with RHD in Uganda.

214 deficits were controlled, only patients with RHD showed time perception deficits.

215 tudy included 1782 consecutive patients with RHD who were undergoing VRS to explore the relationship

216 1-year mortality after VRS in patients with RHD, which might have additive prognostic value to Euro

217 e-exome sequencing in 202 case subjects with RHD and identified diagnostic mutations in genes known t