ライフサイエンスコーパス: common disease

1 itis of the sigmoid colon is an increasingly common disease.

2 ty to unravel the functional architecture of common disease.

3 sarily appropriate for epigenetic studies of common disease.

4 on would allow for better management of this common disease.

5 gating the role of rare genetic variation in common disease.

6 ubstantial genetic diversity underlying this common disease.

7 cal significance of rare genetic variants in common disease.

8 faced in identifying pathogenic variants in common disease.

9 be a paradigm for genetic predispositions to common disease.

10 duce overdiagnosis and overtreatment of this common disease.

11 target for therapeutic intervention in this common disease.

12 unique view of the genetic architecture of a common disease.

13 Bladder cancer (BC) is a common disease.

14 the role of genetics and epigenetics in this common disease.

15 dly validating any biological marker of this common disease.

16 mparable resource has not been available for common disease.

17 ntial for therapeutic insights for this very common disease.

18 r, and also have emerging roles in aging and common disease.

19 2/3, changing the treatment outlook for this common disease.

20 ntial to dissect the molecular mechanisms of common disease.

21 with autoinflammatory syndromes and several common diseases.

22 systems that have impacted the treatment of common diseases.

23 substantial fraction of the heritability of common diseases.

24 and environmental factors related to complex common diseases.

25 important role in disease susceptibility of common diseases.

26 not yet demonstrated robust association with common diseases.

27 nts influencing gene expression and risk for common diseases.

28 sparse concerning 131I-related risk of these common diseases.

29 ictive performance for ten complex traits or common diseases.

30 iation (CNV) can influence susceptibility to common diseases.

31 ential biomarkers and therapeutic agents for common diseases.

32 c variants contributing to susceptibility to common diseases.

33 covery of additional susceptibility loci for common diseases.

34 hogenesis and therapy of seemingly unrelated common diseases.

35 inheritance/susceptibility of multifactorial common diseases.

36 development of drug treatments for rare and common diseases.

37 the mechanisms underlying susceptibility to common diseases.

38 very of common risk loci for the majority of common diseases.

39 eutic targets for treatment of both rare and common diseases.

40 ain the majority of phenotypic variations of common diseases.

41 n variants to identify genes responsible for common diseases.

42 gulation at multiple levels that causes many common diseases.

43 n mutations and are associated with multiple common diseases.

44 predictive accuracy of GWAS variants for 18 common diseases.

45 singly in the incidence and severity of some common diseases.

46 een implicated in the etiologies of numerous common diseases.

47 genetic instability associated with rare and common diseases.

48 y genome-wide association studies (GWAS) for common diseases.

49 ver 300 regions associated with more than 70 common diseases.

50 e yielded replicated associations to several common diseases.

51 explain some of the genetic contribution to common diseases.

52 on for use in genetic association studies of common diseases.

53 ions to predict individual susceptibility to common diseases.

54 iologic regulatory mutations associated with common diseases.

55 rovide mechanistic insights into age-related common diseases.

56 tified many individual genes associated with common diseases.

57 the impact of copy number variants (CNVs) on common diseases.

58 nto genomic regulatory mechanisms underlying common diseases.

59 nt insights into the genetic architecture of common diseases.

60 ctions and therapeutic development for these common diseases.

61 that control transcript isoforms relevant to common diseases.

62 gets to prevent developmental programming of common diseases.

63 age structure of the population and the most common diseases.

64 ctive for describing genetic complexities of common diseases.

65 ses and screening methods relevant for other common diseases.

66 ing pathways, which are important in several common diseases.

67 le in contemporary surgical therapy for many common diseases.

68 ght provide insights into understanding more common diseases.

69 usually acquired conditions associated with common diseases.

70 urrent aphthous stomatitis (RAS) is the most common disease affecting oral mucosae.

71 nal 1 reporter in fibroblasts containing the common disease allele, PEX1-p.Gly843Asp.

72 isease-associated SNPs and demonstrated that common disease alleles contain multiple causal variants

73 emonstrated that, under realistic scenarios, common disease alleles would become associated at P < 5

74 inflammation of the middle ear, is the most common disease and cause for surgery in infants worldwid

75 T consistently outperforms other tests for a common disease and frequently outperforms other tests fo

76 The genes influencing common disease and quantitative traits remained largely

77 Peanut allergy is a common disease and the cause of severe, life-threatening

78 Stroke is one of the most common diseases and a leading cause of death and disabil

79 notypic annotations for over 10,000 rare and common diseases and can be used for examining the phenot

80 Current genome-wide surveys of common diseases and complex traits fundamentally aim to

81 tified thousands of variants associated with common diseases and complex traits, only a handful of th

82 Most common diseases and quantitative traits are heritable: d

83 In sequencing studies of common diseases and quantitative traits, power to test r

84 In the present analysis of five common diseases and traits, including body mass index, t

85 e discovered >1,200 variants associated with common diseases and traits, these variants typically app

86 fied many noncoding variants associated with common diseases and traits.

87 k loci identified in studies of more than 60 common diseases and traits.

88 iants that are significantly associated with common diseases and traits.

89 ree classifier to the genotype data of seven common diseases and two shared control sets provided by

90 Acute cholecystitis is a common disease, and laparoscopic surgery is the standard

91 usible causes of a substantial proportion of common disease, and rare CNVs have been found to be pote

92 Calcific aortic stenosis is a common disease, and some of its early causes are the act

93 from cohorts of high-risk patients with less common diseases, and expert opinion based on limited dat

94 Environmental adaptation, predisposition to common diseases, and, potentially, speciation may all be

95 ntext, complicating experimental analysis of common disease- and trait-associated variants that local

96 accelerated the identification of much more common disease- and treatment-modifying genes that expla

97 miologic data to support undiagnosed HS as a common disease are lacking.

98 It is possible that common diseases are simply lagging behind due to the inh

99 Because most common diseases arise out of a combination of factors an

100 Venous thromboembolism (VTE) is a common disease associated with high risk for recurrences

101 New work reveals that a common disease-associated mtDNA mutation is selectively

102 The most common disease-associated mutation in the CFTR gene-dele

103 cause Parkinson's disease (PD), and the most common disease-associated mutation, G2019S, increases ki

104 first experimental insight into how the most common disease-associated mutations of human SPT may lea

105 The common disease-associated sample characteristics across

106 hypothesis and provide robust evidence that common disease-associated variants can alter size at bir

107 tudies have identified thousands of loci for common diseases, but, for the majority of these, the mec

108 us Prpf3 and Prpf8 genes that mimic the most common disease causing mutations in human PRPF3 and PRPF

109 Four of the eight common disease causing mutations in MECP2 are nonsense m

110 mimicking knock-in mouse harbouring the most common disease-causing filamin C mutation (p.W2710X).

111 the m.3243A>G mutation in MTTL1 is the most common disease-causing mtDNA mutation, with a carrier ra

112 results demonstrate that in contrast to the common disease-causing mutant genes that are predominant

113 The most common disease-causing mutation in alpha1-AT is the Z-mu

114 The most common disease-causing mutation in the cystic fibrosis t

115 The most common disease-causing mutation, DeltaF508, is found in

116 milies affected by probable adRP but lacking common disease-causing mutations.

117 Osteoarthritis (OA) is a common disease characterized by cartilage degeneration a

118 Hydronephrosis is a common disease characterized by dilation of the renal pe

119 gle glaucoma (POAG) is a genetically complex common disease characterized by progressive optic nerve

120 nd insulin resistance.Hepatic steatosis is a common disease closely associated with metabolic syndrom

121 ology of complex human disease have been the common disease, common variant (CDCV) hypothesis, and th

122 Thus, the 'common disease, common variant' hypothesis is increasing

123 om association to causation and supports the common disease-common variant hypothesis in the etiology

124 y of the effects of common genetic variants (common disease-common variant hypothesis).

125 were designed and deployed according to the common disease-common variant hypothesis, in which indiv

126 pe-phenotype relationship in humans, (2) the common-disease-common-variant hypothesis, (3) the curren

127 us studies have queried the genetic basis of common disease, contradictory hypotheses have been advoc

128 Among children, the most common diseases contributing to significant morbidity an

129 Although AD is a common disease, controlled clinical studies investigatin

130 emingly inconclusive genetic data related to common diseases could therefore become meaningful in an

131 D and those with extrinsic AD, we identified common disease-defining features of T-cell activation, p

132 Osteoporosis is a common disease diagnosed primarily by measurement of bon

133 s been implicated in the etiology of several common diseases due to the association between specific

134 ped individuals in the tens of thousands for common diseases (e.g., in a 1-yr period: N = 15,798 for

135 A major concern in common disease epigenomics is distinguishing causal from

136 Diverticulitis is a common disease, especially in the Western world.

137 c dermatitis, and food allergy are extremely common diseases, especially among children, and are freq

138 deliver major therapeutic advances for many common diseases, especially diabetes and cardiovascular

139 ing tool for dissecting the genetic basis of common diseases, expression quantitative trait loci (eQT

140 In contrast to many other common diseases for which genetic association-studies ha

141 Diabetes mellitus and neurodegeneration are common diseases for which shared genetic factors are sti

142 K-Ras-induced lung cancer is a very common disease, for which there are currently no effecti

143 the Northern Finland Birth Cohort and seven common diseases from the Wellcome Trust Case Control Con

144 As in other common diseases, genes at COPD GWAS loci were not differ

145 The associated SNPs form a common disease haplotype.

146 Many common diseases have an important inflammatory component

147 ght impart larger effect sizes (rare variant-common disease hypothesis).

148 Asthma is a common disease in childhood and is often preceded by whe

149 ors, diagnosis, and treatment to manage this common disease in children.

150 onic obstructive pulmonary disease (COPD), a common disease in elderly patients, is characterized by

151 Chronic urticaria (CU) is a common disease in which most cases were considered to be

152 ICAL RELEVANCE: Although NF1 is a relatively common disease in which routine ophthalmologic examinati

153 Although NF1 is a relatively common disease in which routine ophthalmologic examinati

154 Barrett's esophagus (BE) is a common disease in which the lining of the esophagus tran

155 Asthma is a common disease in young children and is associated with

156 ion study by proxy (GWAX) and apply it to 12 common diseases in 116,196 individuals from the UK Bioba

157 Rhinitis is one of the most common diseases in childhood.

158 research in specific and the root causes of common diseases in general.

159 For many traits, including susceptibility to common diseases in humans, causal loci uncovered by gene

160 e in close proximity to SNPs associated with common diseases in large population studies.

161 e NLRP3 inflammasome is also associated with common diseases including cardiovascular disease, diabet

162 nses are pathologically sustained in several common diseases, including asthma.

163 a central regulator of inflammation in many common diseases, including atherosclerosis and type 2 di

164 deficiency has been associated with several common diseases, including cancer and is being investiga

165 the prevalence, course and severity of many common diseases, including cardiovascular diseases, auto

166 le dysregulated Wnt signaling contributes to common diseases, including congenital malformations and

167 lated cardiomyopathy, and implicated in many common diseases, including dilated cardiomyopathy and is

168 l and differentiation, with implications for common diseases, including male infertility and testicul

169 hat alleles that influence susceptibility to common diseases, including schizophrenia, will frequentl

170 riasis arthritis (PsA) are poorly understood common diseases, induced by unknown environmental factor

171 t, thereby extending direct investigation of common diseases into the human evolutionary past.

172 nce, whereas it has been hypothesized that a common disease is associated primarily with common genet

173 showing that genetic susceptibility to this common disease is largely determined by common SNPs of s

174 the genetic contribution of rare variants to common diseases is a major basic and clinical science ch

175 our knowledge of the genetic architecture of common diseases is still very limited and has not yet fu

176 Three common diseases, isolated cleft lip and cleft palate (CL

177 f metabolism can inform our understanding of common diseases like cancer and also considers the prosp

178 (1) Autonomic dysfunction is present in common diseases like hypertension, diabetes and heart fa

179 mTOR signaling is deregulated in common diseases, like cancer and epilepsy, and mTORC1 is

180 s, as well as between Mendelian diseases and common diseases linked by genomic location.

181 been argued that the missing heritability in common diseases may be in part due to rare variants and

182 It has been suggested that common diseases may often be caused by rare alleles miss

183 Synchronizing dietary guidelines for these 2 common diseases may provide a simplified public health m

184 Our findings define haploinsufficiency as a common disease mechanism in ALPS patients with extracell

185 correctly spliced ciliopathy genes may be a common disease mechanism in retinal degenerations.

186 vide an in vitro model system to investigate common disease mechanisms and evaluate potential therapi

187 The 10th anniversary 'Genomics of Common Diseases' meeting was held in Baltimore, Septembe

188 on mitochondrial function, dysfunction, and common disease; mitochondrial receptors, targets, and su

189 ed by compound heterozygous architectures, a common disease model for recessive monogenic disorders,

190 a JNCL neuronal cell model bearing the most common disease mutation in CLN3.

191 are linked to senile systemic amyloidosis, a common disease of aging, while several TTR mutants are l

192 Otitis media (OM) is the most common disease of childhood, and the role of innate immu

193 Periodontitis is the most common disease of microbial etiology in humans.

194 ), demonstrating the potential importance in common disease of rare variants with strong effects.

195 Aortic valve calcification (AVC) is a common disease of the elderly.

196 Onychomycosis is the most common disease of the nail in adults.

197 Chronic prostatitis is a common disease of unclear etiology and has no specific t

198 associated with increased susceptibility to common diseases of aging, and may be predictive of cance

199 gical research suggests that two of the most common diseases of aging, type 2 diabetes (T2DM) and Alz

200 ncy and both uncomplicated malaria and other common diseases of childhood in a cohort study of 752 ch

201 G6PD c.202T had no effect on other common diseases of childhood in heterozygous girls (inci

202 ading cause of otitis media, one of the most common diseases of childhood.

203 e implications for the treatment of rare and common diseases of ectopic vascular calcification.

204 The NTDs represent the most common diseases of people living in extreme poverty and

205 the underlying biology of associations with common diseases of the human retina, retinal pigment epi

206 ection in an animal model of one of the most common diseases of women worldwide, and may have signifi

207 and rare variants contribute to the risks of common diseases or complex traits and the cumulative eff

208 variants that function in a common variant, common disease paradigm.

209 Common diseases, particularly dementia, have large socia

210 as TH2 and regulatory T cells, indicating a common disease pathogenesis in patients with IgG4-RD.

211 nt damaged functions be linked together in a common disease pathway and which damaged function should

212 utations and connects these two genes into a common disease pathway.

213 Because these novel genes share common disease pathways with other genes implicated in A

214 vanced murine and human atherosclerosis, the common disease phenotype in clinical care.

215 e structurally diverse mutations result in a common disease phenotype.

216 , and their possible relevance to other more common disease presentations should become more clearly

217 Oral lichen planus was the most common disease presenting as DG, followed by pemphigoid.

218 Oral lichen planus was the most common disease presenting as DG, which is consistent wit

219 Fibrosis is a common disease process in which profibrotic cells distur

220 vidence is growing that dry eye represents a common disease process resulting from a number of underl

221 ings confirm our intuition that knowledge of common disease progressions results in higher predictabi

222 only a modest fraction of heritable risk for common diseases, raising the question of whether rare va

223 ence variants that underlie GWAS signals for common diseases, ranging from neuropsychiatric disorders

224 Recent emergence of the common-disease-rare-variant hypothesis has renewed inter

225 fibril formation by both wild-type TTR and a common disease-related variant, V30M TTR, as effectively

226 asis for variation in most traits, including common diseases, remains only partly understood.

227 Obstructive sleep apnea is a common disease, responsible for daytime sleepiness.

228 ed by the patients--to predict their risk of common diseases--revealed that they share several varian

229 -by-environment (GxE) interactions determine common disease risk factors and biomedically relevant co

230 Rolling phenotype can be modulated by common disease risk modifiers (metformin and pravastatin

231 umulate to become a substantial component of common disease risk.

232 rally favorable toxicity profiles in several common disease settings where conventional treatments ha

233 Many common diseases show wide phenotypic variation.

234 The results on 15 common diseases showed a superior performance of the new

235 sking is due to the additional presence of a common disease-specific G170R mutation, which is encoded

236 Haplotype analysis showed a common disease-specific haplotype of the 6 families and

237 oxysmal kinesigenic dyskinesia, confirming a common disease spectrum that had previously been suggest

238 considered to represent different ends of a common disease spectrum.

239 Their manifestations encompass common disease states such as idiopathic pulmonary fibro

240 rvice planning and could be applied to other common disease states within other regions of the world.

241 ore the role of elevated IL-6 levels in many common disease states, confirming the key causal role of

242 has seen great progress in mapping loci for common diseases, studying how these risk alleles lead to

243 ht thus be translated into new therapies for common diseases such as cancer and autoimmune disorders.

244 These transporters are involved in important common diseases such as cancer and diabetes.

245 associated with tissue remodeling in various common diseases such as cancer, arthritis and fibrosis.

246 Common diseases such as coronary heart disease (CHD) are

247 and may highlight biomarkers and pathways in common diseases such as diabetes.

248 f-function mutations for caspase-1 activity, common diseases such as gout, type 2 diabetes, heart fai

249 arterial calcification of infancy (GACI), to common diseases such as hardening of the arteries associ

250 ndicate that these cells contribute to other common diseases such as multiple sclerosis, rheumatoid a

251 For common diseases such as VTE, biobanks provide potential

252 ogy and for obtaining critical insights into common diseases, such as those affecting oral health.

253 High monozygotic twin discordance rates for common diseases suggest that unexplained environmental o

254 Emerging mechanistic links with more common diseases suggest we need to rethink our current c

255 Genome-wide association (GWA) studies to map common disease susceptibility loci have been hugely succ

256 So far, three common disease-susceptibility variants at the RET, SEMA3

257 Local allergic rhinitis (LAR) is a common disease that affects 25.7% of the rhinitis popula

258 s resulting from hair cell degeneration is a common disease that affects millions of people worldwide

259 Age-related macular degeneration (AMD) is a common disease that can result in severe visual impairme

260 Mitral stenosis is a common disease that causes substantial morbidity worldwi

261 Periodontitis is a common disease that is characterized by resorption of th

262 Obstructive sleep apnoea is a common disease that is now more widely recognised becaus

263 Food allergy is a common disease that is rapidly increasing in prevalence

264 Barrett's esophagus is an increasingly common disease that is strongly associated with reflux o

265 mortality is believed to be explained by 21 common diseases that have been formally established as c

266 There are, however, several less common diseases that present with urticarial rash, such

267 into adulthood, and play important parts in common diseases that range from obesity to psychiatric d

268 d for examining the phenotypic overlap among common diseases that share risk alleles, as well as betw

269 d microbiome homeostasis, and contributes to common diseases that show geographical disparities, such

270 reviously unsuspected etiologic pathways for common diseases that will be of use in identifying new t

271 ding valuable insights into genetic risks of common diseases, the genetic variants identified by GWAS

272 single-nucleotide polymorphisms (SNPs) with common diseases, the SNPs implicated so far account for

273 derlying GWAS, including the architecture of common diseases, the structure of common human genetic v

274 understanding of the genetic architecture of common diseases, they have also given rise to challenges

275 have identified many susceptibility loci for common diseases, they only explain a small portion of he

276 nent methods to imputed genotype data for 11 common diseases to partition the heritability explained

277 approach to find long-range interactions in common diseases using a standard two-locus test that con

278 identifying genetic variants associated with common diseases using genome-wide association studies (G

279 wing intraventricular hemorrhage (IVH), is a common disease usually treated by suboptimal CSF shuntin

280 f using an isolated population enriched with common disease variants as an efficient method to identi

281 study highlights benefits of fine-mapping of common disease variants in combination with publicly ava

282 usands of cases and controls have now mapped common disease variants to 34 distinct loci.

283 of association studies to more fully explain common disease variation.

284 role of calcium-containing crystals in this common disease warrants re-examination.

285 usal mutations) if the heritability of these common diseases was explained by rare variants in the co

286 As information about the heritability of common diseases was obtained, similar efforts were direc

287 haracterizing the immunologic basis of these common diseases we will be able to understand the hetero

288 lead to resolution of our current dilemma in common diseases: Where is the missing heritability?

289 Bladder cancer is a common disease whose natural history can be unpredictabl

290 and new ways of preventing and managing this common disease will become available.

291 Schizophrenia is a common disease with a complex aetiology, probably involv

292 Asthma is a common disease with a complex risk architecture includin

293 Pulmonary thromboembolism (PTE) is a common disease with a high mortality rate that is diffic

294 Celiac disease is a common disease with a prevalence of approximately 1%.

295 Atopic dermatitis (AD) is a common disease with an increasing prevalence.

296 Abdominal aortic aneurysm (AAA) is a common disease with often life-threatening consequences.

297 Chronic rhinosinusitis (CRS) is a common disease with still unclear pathophysiologic mecha

298 Appendicitis is a common disease, with a lifetime risk of approximately 7%

299 Sporadic breast cancer (SBC) is a common disease without robust means of early risk predic

300 as widely expected that the genetic basis of common disease would be resolved by genome-wide associat