ライフサイエンスコーパス: disease-causing

1 rted in the literature might not actually be disease causing.

2 isease-causing and four variants as possibly disease-causing.

3 Tuberculosis (TB) is one of the deadliest diseases, causing ~2 million deaths annually worldwide.

4 or targeted therapy directed at the specific disease-causing abnormality.

5 genetic variants in CHM was predicted to be disease-causing according to in silico prediction softwa

6 is a reservoir of plasma cells that secrete disease-causing AChR autoantibodies and although thymect

7 This is especially important if the disease-causing agent has no effective treatment, such a

8 safeguarding women and their fetuses against disease causing agents during pregnancy and for developi

9 e this field assay by investigating putative disease-causing agents and the microbiome of corals with

10 TANCE Viruses are generally considered to be disease-causing agents, but several instances of benefic

11 of non-conventional MHC ligands derived from disease-causing agents, such as HIV-1 envelope (Env) gly

12 exists about protein structures within these disease-causing aggregates.

13 onents of costameres, are elevated in TRIM32 disease-causing alleles.

14 AIT is based on the administration of the disease-causing allergen with the goal to induce a prote

15 s essential for cytokinesis and viability of disease-causing amastigotes but not for flagellar membra

16 s leishmaniasis (CL) is a neglected tropical disease causing an estimated 1 million new cases annuall

17 had a huge impact on other, non-EVD-related diseases, causing an unprecedented increase in morbidity

18 onvolutional neural network to differentiate disease-causing and benign SAVs based on a variety of pr

19 d us to classify eleven variants as probably disease-causing and four variants as possibly disease-ca

20 These disease-causing bacteria gain resistance to drugs over t

21 tallic nanoparticles can target and kill all disease-causing bacteria.

22 get for next-generation vaccines against the disease-causing blood-stage of malaria.

23 hypertension (FPAH), the autosomal dominant disease-causing BMPR2 mutation is only 20% penetrant, su

24 olutionarily diverse genetic element in Lyme disease-causing borreliae.

25 ern that HPgV will, itself, evolve to become disease-causing by permitting mutant disease-causing HPg

26 ansgenic lines were resistant to anthracnose disease-causing C. gloeosporioides in comparison to wild

27 sion of osteoarthritis, a debilitating joint disease causing cartilage degeneration.

28 The development of drugs that can inactivate disease-causing cells (e.g. cancer cells or parasites) w

29 ng small sample volumes without loss of rare disease-causing cells.

30 Genetic testing demonstrated disease causing CFTR mutations: R1117H/7 T/F508del.

31 addition, we applied CNet to identify likely disease-causing chains involving somatic mutations, path

32 have revealed that COVID-19 is a multi-organ disease causing characteristic complications.

33 ion or mediated by Ag-specific regulation of disease-causing conventional T cells (Tcon) and immunosu

34 armacological therapies, here we examined 13 disease-causing DAT mutants that were retained in the en

35 the method on recently published independent disease-causing data.

36 e deprivation quintile, year of death, liver disease causing death, place of death, time from index p

37 Because multiple sclerosis (MS) is a chronic disease causing disability over decades, it is crucial t

38 cuss possible reasons for the persistence of disease-causing DNA repeats in the genome.

39 5.9% (87 / 132) of the PCD patients carrying disease-causing DNAH5 mutations had laterality defects:

40 pe correlations in 132 PCD patients carrying disease-causing DNAH5 mutations, focusing on situs defec

41 he molecular and cellular pathophysiology of disease-causing ephrinB2-EphB4-RASA1 mutations, includin

42 Here we show that disease-causing frameshift mutations that result from mi

43 ersonalized medicine, however distinguishing disease-causing from benign variants remains a challenge

44 The cerebral cavernous malformation disease causing gene KRIT1 participates in intestinal ep

45 ologies according to mode of inheritance and disease-causing gene by using SW-AF imaging and spectral

46 mapping, and segregation analysis for novel disease-causing gene discovery.

47 (K2P3.1), has been identified as a possible disease-causing gene in heritable PAH.

48 ne (KCNK3) has been identified as a possible disease-causing gene in heritable pulmonary arterial hyp

49 CRISPR-Cas9 can be applied to correct disease-causing gene mutations or engineer T cells for c

50 In many of these cases, the disease-causing gene was not known to be important for b

51 tential for novel gene discovery, confirming disease-causing genes after initial discovery remains ch

52 possibility of dual mode of transmission for disease-causing genes and provide the key neuropathologi

53 canonical splice site variants identified in disease-causing genes are generally considered as loss-o

54 ies that are based on either the knockout of disease-causing genes or the repair of endogenous mutate

55 a genetically heterogeneous disorder with 22 disease-causing genes reported to date.

56 nce-based evaluation for previously reported disease-causing genes to ensure their appropriate use in

57 Sweden, and 208 from Iran revealed 68 known disease-causing genes underlying this heterogeneous immu

58 disease-causing genes, knockdown of dominant disease-causing genes using antisense oligonucleotides o

59 as a complementary approach for identifying disease-causing genes, genetic mediators, disruptions in

60 are being adapted for replacement of mutant disease-causing genes, knockdown of dominant disease-cau

61 have been found to harbor rare mutations in disease-causing genes.

62 help to identify and characterize these new disease-causing genes.

63 ntified a plethora of disease-associated and disease-causing genetic alterations.

64 CRISPR-Cas9) for the precise correction of a disease-causing genetic mutation harness the homology-di

65 of these proteins, including age, sleep and disease-causing genetic mutations.

66 proximately 60% of patients carry a putative disease-causing genetic variant, but interpretation of g

67 or even a majority of individuals who carry disease-causing genetic variants and are at risk of dise

68 g exome or genome sequencing, distinguishing disease-causing genetic variants from the multitude of c

69 entiation between phenotypically neutral and disease-causing genetic variation remains an open and re

70 sition of all N. meningitidis and individual disease-causing genogroups.

71 Disease-causing genotypes were identified in 576 of the

72 rt mice is strongly elevated early on in the disease, causing glomerular endothelial cell damage.

73 RNA editing to repair, at the mRNA level, a disease-causing guanosine to adenosine (G > A) mutation

74 n of 1.75 angstrom and the structures of six disease-causing hE3 variants at resolutions ranging from

75 y that links three-dimensional structures of disease-causing hE3 variants to residual hLADH activitie

76 st studies of human pancreatic islets with a disease-causing HNF1A variant associated with the most c

77 propose that the progression and outcome of disease-causing host-parasite interactions will be more

78 become disease-causing by permitting mutant disease-causing HPgV strains to potentially arise during

79 allel beta-sheet architecture as most of the disease-causing human amyloids studied.

80 Disease-causing human mutations in ANT1 abrogate binding

81 ia remains one of the most deadly infectious diseases, causing hundreds of thousands of deaths each y

82 Disease-causing hyperactive STING mutations either flank

83 n 100,000 genetic variants are classified as disease causing in public databases.

84 hic pulmonary fibrosis (IPF) are severe lung diseases causing irreversible lung damage and premature

85 signature response distinct from an invasive-disease-causing isolate of serotype 4 (TIGR4).

86 reland, together with the characteristics of disease-causing isolates.

87 Human disease-causing LMNA mutations were modeled in Drosophil

88 Expression of disease-causing Matrin 3 mutations led to nuclear mRNA e

89 haploinsufficiency as the common underlying disease-causing mechanism for DFNA10-related hearing los

90 However, the underlying disease-causing mechanism remains uncertain.

91 progression, identify biomarkers, establish disease causing mechanisms, and monitor response to ther

92 great biomedical interest to determine their disease-causing mechanisms and the therapeutic potential

93 h many complex disorders, but the underlying disease-causing mechanisms often remain unclear.

94 x activates these cells, inducing release of disease-causing mediators, cytokines, and enzymes.

95 had no discernible effect on the carriage of disease-causing meningococci, including group B.

96 revolution has led to the identification of disease-causing microbes in both expected and unexpected

97 pecialised infection structures used by many disease-causing microorganisms to breach the outer surfa

98 biosphere; for understanding the potency of disease-causing microorganisms; and in biotechnologies t

99 erial systems to evaluate the impact of four disease-causing missense mutations identified in individ

100 challenge has been that there are 255 unique disease-causing missense mutations in GLDC, of which 206

101 s nonsense mutations in four and potentially disease-causing missense variants in two families (1.4%)

102 12, and -14 enable this compound to decipher disease causing MMP networks and to generate new treatme

103 remains one of the most prevalent infectious diseases causing morbidity and death in >1.5 million pat

104 alleles, containing one copy each of WT and disease-causing mutant genes, so that, in vivo, p97 mole

105 ike effector nuclease technology, to disrupt disease-causing mutant KRT10 alleles in an ex vivo cellu

106 nt p97 heterohexamers comprising both WT and disease-causing mutant subunits, we performed a methyl-t

107 of misfolded proteins, observed for several disease-causing mutants, may have different origins.

108 -activation assays were used to identify the disease-causing mutation in 3 patients.

109 A disease-causing mutation in human STN1 engenders a selec

110 ystrophin gene, which represents a prevalent disease-causing mutation in humans.

111 evertheless, despite the fact that finding a disease-causing mutation offers a precise diagnosis, the

112 e-editing approaches designed to correct the disease-causing mutation or reactivate HbF are currently

113 A disease-causing mutation within KIF1A that reduces prefe

114 rotomers are either entirely WT or contain a disease-causing mutation, showing that for WT p97, the N

115 DES variant c.1216C>T (p.R406W) as the sole disease-causing mutation.

116 veral predictions experimentally including a disease-causing mutation.

117 a truncated TANGO1 protein was identified as disease-causing mutation.

118 ndividuals in the general population carry a disease-causing mutation.

119 most fundamental biological processes, with disease causing mutations enriched at their interfaces.

120 cing PTC repair in multiple genes, including disease causing mutations within cystic fibrosis transme

121 xclusive mutations) and 104 genes presenting disease-causing mutations (OMIM) were discovered.

122 ess, however, very little is known about how disease-causing mutations affect the de novo folding lan

123 Therefore, the impact of disease-causing mutations affecting these channels may d

124 We apply MAPPIN to a set of Mendelian disease-causing mutations and accurately predict pathoge

125 l, we determined the likely locations of the disease-causing mutations and propose a new classificati

126 a framework for understanding the effects of disease-causing mutations and the mechanisms of this div

127 ary goals of modern genetics are to identify disease-causing mutations and to define the functions of

128 Most of the disease-causing mutations are located in the extended cy

129 We found that disease-causing mutations are more frequent within RLM d

130 Why the disease-causing mutations are restricted to the N termin

131 , correcting muscular dystrophies by editing disease-causing mutations at the genomic level.

132 twork analysis approach revealed how certain disease-causing mutations bypass FKBP12-mediated kinase

133 sed NMR studies have previously revealed how disease-causing mutations deregulate a subtle dynamic co

134 n in heterologous systems has shown that the disease-causing mutations give rise to channels that hav

135 he subunits interact with each other and how disease-causing mutations hamper this interaction.

136 hood glaucomas have strong genetic bases and disease-causing mutations have been discovered in severa

137 mpts at using protein structures to identify disease-causing mutations have been dominated by the ide

138 mos has a significant genetic background and disease-causing mutations have been recently been report

139 .IMPORTANCE A variety of human rheumatologic disease-causing mutations have recently been identified.

140 functionally redundant, and some but not all disease-causing mutations have retained activity.

141 The identification of disease-causing mutations in 13 genes provides a basis f

142 identify a critical mass of individuals with disease-causing mutations in a single gene.

143 is similar to pathology resulting from human disease-causing mutations in ACTN4.

144 nd may help accelerate the identification of disease-causing mutations in any protein.

145 Whole-exome sequence analyses identified disease-causing mutations in each proband, and these mut

146 these beneficial effects can be hijacked by disease-causing mutations in FGF receptor (FGFR) during

147 provide a molecular basis for understanding disease-causing mutations in FOXC1 and FOXC2.

148 More than 250 disease-causing mutations in GBA1, the gene encoding GCa

149 Our results rationalize disease-causing mutations in human ABCB4 and suggest an

150 Correction of disease-causing mutations in human embryos holds the pot

151 genome in 886 index cases of PID found that disease-causing mutations in known genes that are implic

152 mprove fertility treatments for couples with disease-causing mutations in lieu of embryo selection.

153 Several disease-causing mutations in Piezo1 alter the rate of in

154 Here we show that LGMD2H disease-causing mutations in the NHL domain are molecula

155 Here we show that inherited, disease-causing mutations located within the first nucle

156 ion, and for understanding the clustering of disease-causing mutations near sites of intramolecular i

157 Disease-causing mutations occur commonly in the VWA doma

158 Mapping disease-causing mutations of SRD5A2 to our structure sug

159 nt negative TRPC6 mutation, or either of two disease-causing mutations of TRPC6, G109S or K874*.

160 The mechanistic details of most disease-causing mutations remain poorly explored within

161 Many common disease-causing mutations result in loss-of-function (LO

162 Structural mapping of disease-causing mutations suggests that pathogenesis res

163 The cellular studies reveal that disease-causing mutations that disrupt either of the con

164 In contrast, Charcot-Marie-Tooth disease-causing mutations that disrupt the stability of

165 dogenous start codon to functionally correct disease-causing mutations throughout the gene.

166 rived from patients with CPVT with different disease-causing mutations to determine the effectiveness

167 ld tremendous potential to effectively treat disease-causing mutations with diverse cellular origin.

168 ture-based rationale for previously reported disease-causing mutations, and a means for rational drug

169 , studies of animal models bearing different disease-causing mutations, and more in-depth observation

170 abundance to investigate the consequences of disease-causing mutations, and observe widespread chemic

171 ovel RAMP-GPCR interactions, human RAMP-GPCR disease-causing mutations, and RAMP-related human pathol

172 s have implications for our understanding of disease-causing mutations, and will help in the design o

173 ed CTG mutation is one of the most prevalent disease-causing mutations, making it possible to obtain

174 nd help to understand the molecular basis of disease-causing mutations.

175 e muscle transcriptome and faithfully reveal disease-causing mutations.

176 whole-exome sequencing revealed no potential disease-causing mutations.

177 ns make up the second largest class of known disease-causing mutations.

178 NPVs) as possible, without removing the true disease-causing mutations.

179 sulted in the identification of a variety of disease-causing mutations.

180 anipulations, ranging from drugs of abuse to disease-causing mutations.

181 for CRAC channel function, pharmacology and disease-causing mutations.

182 provides a framework for understanding their disease-causing mutations.

183 f signaling dynamics and can be corrupted by disease-causing mutations.

184 espectively) and could be used to target G/C disease-causing mutations.

185 nts revealed that 10,044 were categorized as disease-causing mutations.

186 rioritising synonymous and other variants as disease-causing mutations.

187 difference in the prevalence of carriage of disease-causing N. meningitidis between the vaccination

188 t baseline, the risk factors for carriage of disease-causing N. meningitidis included later year of s

189 ontaining related IEM subjects with the same disease-causing Na(V)1.7 mutation, which is known to mak

190 rimary outcome was oropharyngeal carriage of disease-causing Neisseria meningitidis (group A, B, C, W

191 Various diseases causing neuronal damage have resulted in elevat

192 ion activity targeting the most common human disease-causing nonsense codons.

193 In order to develop a model containing a disease-causing nonsense point mutation, here we describ

194 The disease-causing NRROS variants involve two significant f

195 oposed a new algorithm, DAMpred, to identify disease-causing nsSNPs through the coupling of evolution

196 However, means of correcting disease-causing nuclear and mitochondrial DNA mutations

197 ariants in previously identified Parkinson's disease-causing or lysosomal storage disorder-causing ge

198 he ability to predict if a given mutation is disease-causing or not has enormous potential to impact

199 midazopyrazinone scaffold against a panel of disease-causing organisms to support future lead optimiz

200 en long-term warming and the transmission of disease-causing parasites has received substantial atten

201 import was stimulated by Parkin, but not by disease-causing Parkin variants.

202 Phagocytosis of the Lyme disease-causing pathogen Borrelia burgdorferi has been s

203 the genomic level about the identity of the disease-causing pathogens and their pathogenesis, which

204 could be adapted to detect and combat other disease-causing pathogens by generating the requisite li

205 rescue the peroxisome loss observed in some disease-causing peroxisome mutations, pointing to a pote

206 ouse model of AxD that is heterozygous for a disease-causing point mutation (Gfap(R236H)(/+)) (and th

207 A disease-causing point mutation (K255E) of the actin cros

208 xpressing a wild type human AAT (MAAT) and a disease-causing polymer-forming variant (ZAAT) and the t

209 Our objective was to assess the disease-causing potential of 30 LP H7 viruses isolated f

210 on against hypha-specific markers limits the disease-causing potential of this ubiquitous commensal-p

211 ltiple cellular phenotypes, highlighting the disease-causing potential of tRNA mutations.

212 outside the native splice site and thus the disease-causing potential of variants in other intronic

213 to be systematically investigated for their disease-causing potential.

214 fected with C. difficile strains with varied disease-causing potentials.

215 ygote sheep were generated by insertion of a disease-causing PPT1 (R151X) human mutation into the ort

216 rophy (DMD) is a lethal, muscle degenerative disease causing premature death of affected children.

217 that in the presence of membrane-associated, disease-causing prion protein (Ctm)PrP, increased ALIX a

218 ' splice site, resulting in formation of the disease-causing progerin protein.

219 forming proteins, including the Parkinson's disease causing protein alpha-synuclein, may be one such

220 e mass spectrometry revealed the Parkinson's disease-causing protein DJ-1 and non-muscle myosins as T

221 protein 1A/1B light chain 3 (LC3)(1) and the disease-causing protein may target the latter for autoph

222 he level of mutant ataxin-3 (ATXN3), another disease-causing protein with an expanded polyQ tract(3).

223 nt of selective removal of mutant huntingtin/disease-causing protein would be effective approaches to

224 Translation downstream of predicted disease-causing protein-truncating variants appears to b

225 from an ALS animal model contain pathogenic disease-causing proteins and suggest that brain astrocyt

226 ss the importance of considering isoforms of disease-causing proteins and their interplay with the no

227 onstrating the concept of lowering levels of disease-causing proteins using autophagosome-tethering c

228 unds for lowering mHTT and potentially other disease-causing proteins with polyQ expansions, demonstr

229 eutic strategy to enhance the degradation of disease-causing proteins.

230 ous examination of the effect of Alzheimer's disease-causing Psen1 mutations on neurodegeneration.

231 The disease-causing r(CUG)(exp) has been targeted by antisen

232 ion equally well in STFs made of healthy and disease-causing R403Q myosin.

233 lso observed decreased palmitoylation of the disease-causing R8L barttin variant associated with huma

234 However, children with mitochondrial diseases causing RC dysfunction often present with short

235 knowledge can be used to identify potential disease-causing regulatory loci.

236 nslation inhibitors that act across multiple disease-causing repeats.

237 ngth in dogs is a unique example of multiple disease-causing retrocopies of the same parental gene in

238 bes and medicines and can selectively target disease-causing RNA structures to broadly improve defect

239 f structured RNA elements, or motifs, within disease-causing RNAs directly from sequence is presented

240 es that selectively engage structures within disease-causing RNAs, with micromolar to nanomolar affin

241 described can be used to define the possible disease-causing role of novel RAG2 variants and might he

242 Disease-causing sarcomere mutations are absent in ~70% o

243 Disease-causing sequence variants in the highly polymorp

244 sa (ARRP) (n = 47) associated with biallelic disease-causing sequence variants in USH2A.

245 Disease-causing sequence variants often affect binding r

246 he essential NGS applications is to identify disease-causing sequence variants, where high coverage a

247 Despite its relevance as a disease-causing serotype, the associated capsular polysa

248 nid alphavirus infection results in pancreas disease causing severe economic losses for Atlantic salm

249 loss is a common defect of spliceosomes with disease-causing SF3B1 mutations and, because this defect

250 Urothelial carcinoma (UC) is a common disease causing significant morbidity and mortality as w

251 ite this, GWASs alone are unable to pinpoint disease-causing single nucleotide polymorphisms (SNPs).

252 d HLA-DQA1 genes and are highly enriched for disease-causing SNPs.

253 Many disease-causing somatic mutations can initiate clonal gr

254 pected to have complex effects on infectious diseases, causing some to increase, others to decrease,

255 biomarkers and therapeutic targets to treat diseases causing spatial disorientation.

256 Mice with the human disease-causing STING mutation were more vulnerable to i

257 , and graft rejection by depleting undesired disease-causing T cells while keeping the overall host i

258 Neurodegenerative diseases-causing TDP-43 mutations affected tau mRNA inst

259 al muscular atrophy (SMA) is a neuromuscular disease causing the most frequent genetic childhood leth

260 lain a patient's symptoms by determining the diseases causing them.

261 e 2019 (COVID-19), an infectious respiratory disease causing thousands of deaths and overwhelming pub

262 luenza is a sometimes surprisingly impactful disease, causing thousands of deaths per year along with

263 olycystins work independently, with separate disease-causing thresholds; however, a combined protein

264 A disease-causing TYR haplotype comprised of two common, f

265 to mediate cell adhesion to fibrillin-1 or a disease-causing variant.

266 fter, the "2013 strain") became the dominant disease-causing variant.

267 Stringent filtering for rare and potentially disease causing variants following a model of autosomal

268 comitant challenges in the identification of disease causing variants.

269 Germline disease-causing variants are generally more spatially cl

270 Identifying disease-causing variants from exome sequencing projects

271 ar Exomiser tool, which identifies potential disease-causing variants from whole-exome or whole-genom

272 aged 6 years or older at baseline, harboring disease-causing variants in ABCA4 (OMIM 601691), enrolle

273 s review, we identify the characteristics of disease-causing variants in BICD2 that distinguish them

274 hich is of clear advantage in the search for disease-causing variants in DNA captured from patient co

275 Disease-causing variants in NR2E3 were identified in 38

276 Twelve female carriers of disease-causing variants in the CHM gene confirmed by mo

277 was established by molecular confirmation of disease-causing variants in the NR2E3 gene (n = 38) or b

278 We found two likely disease-causing variants in two samples from patients wi

279 on studies demonstrated a variable impact of disease-causing variants on transcript processing, prote

280 ogenesis of autoimmune diseases, whereas the disease-causing variants remain largely unknown.

281 ying and obtaining a short list of candidate disease-causing variants remains challenging for most of

282 25 patients from 22 families carrying likely disease-causing variants revealed clinical heterogeneity

283 ysiology, from phenotype differences between disease-causing variants to common mechanistic events th

284 Disease-causing variants were found in 18 autosomal rece

285 As a result, disease-causing variants were identified in 10 of the 16

286 Disease-causing variants were identified in 498 of the 8

287 survivors, testing for primary and secondary disease-causing variants, cardiovascular-related pharmac

288 a fundamental genetic model to identify new disease-causing variants, pathogenic mechanisms and drug

289 ld and severe phenotypic consequences of the disease-causing variants.

290 families and unrelated patients to identify disease-causing variants.

291 ry and functional characterization of single disease-causing variants.

292 for the phenotypic variability of different disease-causing variants.

293 nonconsanguineous MCPH families to identify disease-causing variants.

294 e detected a nontrivial number of purported "disease-causing" variants in controls, implying that fil

295 tive regions of the protein, with respect to disease-causing variation, we performed a systematic ala

296 (VNTRs) are important sources of natural and disease-causing variation, yet they have been problemati

297 Five disease-causing variations in these motifs have been ide

298 One of these pathogens, disease-causing Vibrio parahaemolyticus (VP(AHPND)) whic

299 argest receptor-group of hand-foot-and-mouth disease causing viruses, which includes CV-A10.

300 ch (STB) of wheat, an economically important disease causing yield losses of up to 10% despite the us