ライフサイエンスコーパス: disease-causing

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

2 re, we report the identification of a novel, disease-causing ACTN4 mutation (p.G195D, de novo) in a s

3 hogenic fungi represent the largest group of disease-causing agents on crop plants, and are a constan

4 ype of 14 rare variants spanning 1 Mb of the disease-causing allele.

5 We identified known disease-causing alleles in this cohort that suggest anci

6 spanic RP receives a significant impact from disease-causing alleles of Spanish origin and may also c

7 r classes of genetic variation, such as rare disease-causing alleles.

8 of alpha-Syn(WT) and that of the Parkinson's disease-causing alpha-Syn(A30P) mutant, an effect rescue

9 ol populations, and identify novel candidate disease-causing alterations in known or suspected genes.

10 data suggest that most of these variants are disease-causing, although functional studies are require

11 ance, and use them to quantify the impact of disease-causing amino acid substitutions on catalytic ac

12 te towards efforts to control aggregation in disease-causing amyloids and amyloid-based biotechnologi

13 nding force are able to discriminate between disease-causing and non-disease-causing mutations found

14 In this study, we analyzed data sets of disease-causing and putatively neutral human variants ma

15 the Human Gene Mutation Database (inherited disease-causing) and the 1000 Genomes Project (GP) (puta

16 common causes of dementia after Alzheimer's disease, causing around 15% of cases.

17 blood meal from mice infected with the Lyme disease-causing bacteria Borrelia burgdorferi, leading t

18 ated appendages found at the surface of many disease-causing bacteria.

19 unts an immune response specifically against disease-causing bacterial populations without affecting

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

21 84 M > I) found in CYP2R1 is predicted to be disease causing by mutationtaster software.

22 Since disease-causing CAG repeats occur in transcribed regions

23 omere shortening correlated with severity of disease, causing cardiac valve and septal disease in the

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

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

26 th SCAR correctly predicts alpha-motility in disease-causing chytrid fungi, which we show crawl at >3

27 ations observed here share similarities with disease-causing, complex, large-scale CNVs, thereby demo

28 During winter holidays, potential disease-causing contact and travel deviate from typical

29 levels, proved to be more pathogenic than a disease-causing counterpart with intact UbS2.

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

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

32 in ALPL result in hypophosphatasia (HPP), a disease causing defective skeletal mineralization.

33 Subsequent functional validation of the disease-causing effect of the candidate variant is criti

34 We analyzed 4,964 published disease-causing exonic mutations using a massively paral

35 NA sequence of a new patient, to distinguish disease-causing from benign variants.

36 are normally colonized with many of the same disease-causing fungi (e.g., on the skin or in the gut).

37 ochondrial abnormalities are associated with disease-causing FUS and TDP-43 mutants.

38 face could serve to attenuate the effects of disease-causing G proteins (constitutively active mutant

39 ficulties associated with editing a critical disease-causing gene and can be explored as an option fo

40 nducted on one affected male to identify the disease-causing gene and variant.

41 Taken together, our work identifies a novel disease-causing gene for RP and indicates that proper pr

42 uggest high genetic heterogeneity, but no IS disease-causing gene has yet been identified.

43 ere maintenance and demonstrate that it is a disease-causing gene in a subset of patients with severe

44 evaluation of 150 mutations of CYP21A2, the disease-causing gene in congenital adrenal hyperplasia,

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

46 ign, could quickly transform the sequence of disease-causing gene products into lead modalities.

47 cases, by strict criteria, had a potentially disease-causing gene variant.

48 inaemia type I in mice; rather than edit the disease-causing gene, we delete a gene in a disease-asso

49 20 (20pter-p12) and identify TMEM230 as the disease-causing gene.

50 e the presence of identical mutations in the disease-causing gene.

51 Nineteen disease-causing genes (BBS1-19) have been identified, of

52 e; however, due to an ever-expanding list of disease-causing genes and mutations, the identification

53 NGS has facilitated the discovery of novel disease-causing genes and the genetic diagnosis of patie

54 using mutations is also diagnostic, but many disease-causing genes are unknown, and testing is not wi

55 model and successfully prioritized plausible disease-causing genes at more than half of the regions i

56 NGS), we screened mutations in known retinal disease-causing genes in an RP cohort of 35 unrelated Hi

57 High IR was observed in disease-causing genes including SF3B1 and the RNA bindin

58 monstrate EvoTol's ability to identify known disease-causing genes is unmatched by competing methods.

59 ing evidence that reducing the expression of disease-causing genes may be of benefit in symptomatic p

60 neered to target and eliminate expression of disease-causing genes or infectious viruses, resulting i

61 eport a novel framework (EvoTol) to identify disease-causing genes using patient sequence data from w

62 None of the above monogenic disease-causing genes were suspected on clinical grounds

63 -cell function could identify the underlying disease-causing genes, but large-scale studies in human

64 nts within the untranslated regions of known disease-causing genes, driven by SOD1, TARDBP, FUS, VCP,

65 Across known disease-causing genes, targeted NGS and WGS achieved sim

66 d stability of chromatin interactions around disease-causing genes.

67 complexes, are promising candidates as OTCS disease-causing genes.

68 icing for clinical evaluation of variants in disease-causing genes.

69 little progress has been made in identifying disease-causing genes.

70 sease may aid in the identification of novel disease-causing genes.

71 have mutations in any of the currently known disease-causing genes.

72 e detected recessive mutations in nine known disease-causing genes: ZBTB24, WFS1, HPSE2, ATRX, ASPH,

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

74 nable biological hypotheses for up to 41% of disease-causing genetic variants mapped to protein struc

75 We show that WGS methods can detect disease-causing genetic variants missed by current NGS d

76 ting the precise molecular events altered by disease-causing genetic variants represents a major chal

77 Disease-causing genotypes were identified in 576 of the

78 Disease-causing genotypes were identified in 760 familie

79 ed as an essential reference for identifying disease-causing genotypes.

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

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

82 quencing identified a novel loss-of-function disease-causing homozygous mutation (K102*) in C8ORF37,

83 HFR, CYP27A1, and HIBCH), and in 1 family, 2 disease-causing homozygous variants in different genes w

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

85 amilial and sporadic CCM lesions, and that a disease-causing human CCM2 mutation abrogates the MEKK3

86 se embryonic stem cell (ESC) line in which a disease-causing human IL2RG gene variant replaces the en

87 sults suggest that a significant fraction of disease-causing human variants mapping to protein struct

88 rion protein (PrP(C)) into a beta-sheet-rich disease-causing isoform (PrP(Sc)) is the key molecular e

89 geted sequence analysis identified plausible disease-causing ITPR1 mutations in 10/10 additional GS-a

90 ty when located on the same haplotype with a disease-causing KCNQ1 mutation.

91 atrophy (SMA) is a progressive motor neuron disease causing loss of motor function and reduced life

92 grams targeting scabies, impetigo, yaws, and diseases causing lymphoedema.

93 Streptococcus pneumoniae is responsible for diseases causing major global public health problems, in

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

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

96 on genetic, pathway-based, and toxicogenomic disease-causing mechanisms with disease co-occurrence da

97 an metabolism provides information about the disease-causing mechanisms, so it is usual to investigat

98 ations for the treatment of individuals with disease-causing MECP2 mutations.

99 l serogroup B test strains representative of disease-causing meningococci expressing vaccine-heterolo

100 l serogroup B test strains representative of disease-causing meningococci expressing vaccine-heterolo

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

102 athway, as a modifier of the toxicity of two disease-causing, misfolding-prone proteins, SOD1 and TDP

103 These results reveal how disease-causing missense mutations can disrupt transcrip

104 The effect of disease-causing missense mutations on protein folding is

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

106 matic comparative genomics analysis of human disease-causing missense variants.

107 12, and -14 enable this compound to decipher disease causing MMP networks and to generate new treatme

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

109 ) is a progressive, late onset neuromuscular disease causing motor dysfunction in men.

110 us sclerosis complex (TSC) is a rare genetic disease causing multisystem growth of benign tumours and

111 lerosis (ALS) is a degenerative motor neuron disease, causing muscle paralysis and death from respira

112 The disease-causing mutant A531V manifests enhanced proteaso

113 ere, a transgenic rat (TgF344-AD) expressing disease-causing mutant amyloid precursor protein (APPsw)

114 neration in the absence of neurodegenerative disease-causing mutant proteins.

115 We have previously shown that NKCC2 and its disease-causing mutants are subject to regulation by end

116 of ERAD components specific to NKCC2 and its disease-causing mutants might provide novel therapeutic

117 In addition, several type-specific VHL disease-causing mutants, including those that have retai

118 By mining data for >1,500 disease-causing mutants, we found a strong correlation b

119 and explain the possible effect of prominent disease-causing mutants.

120 By using this model, we show that the disease-causing mutation alphaW493R rewires structural d

121 lpha are degraded mainly by the ALP but this disease-causing mutation exhibits a faster rate of degra

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

123 or VHL is widely available and will detect a disease-causing mutation in rate 95% to 100% of individu

124 d GCAP2 but not RD3 binding similarly to the disease-causing mutation in the neighboring Arg(822).

125 We conclude that this disease-causing mutation is not simply a loss-of-functio

126 human genomes makes the identification of a disease-causing mutation on a background of benign rare

127 els of a Bartter mutant, suggesting that the disease-causing mutation traps the protein in a folding-

128 veral predictions experimentally including a disease-causing mutation.

129 ch was restored by genetic correction of the disease-causing mutation.

130 omes by a currently elusive mechanism, while disease causing mutations in GDAP1 impede the protein's

131 Four of the eight common disease causing mutations in MECP2 are nonsense mutation

132 of pathological alpha-syn, regardless of the disease causing mutations.

133 nscripts are alternatively spliced, and many disease-causing mutations affect RNA splicing.

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

135 that genome editing can permanently correct disease-causing mutations and circumvent the hurdles of

136 portant tool to study gene regulation, model disease-causing mutations and for functional characteris

137 We examined disease-causing mutations and the impact on frataxin str

138 iants (nsSNVs) constitute about 50% of known disease-causing mutations and understanding their functi

139 acid variations (SAVs) and demonstrated that disease-causing mutations are preferentially located wit

140 mmense potential as therapeutic tools to fix disease-causing mutations at the level of DNA.

141 Elucidation of the molecular outcomes of the disease-causing mutations by cell culture experiments an

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

143 Disease-causing mutations can often occur in splice site

144 Energetic hot spots tend to be enriched in disease-causing mutations compared to non-hot spots (p=0

145 Our results suggest that autosomal dominant disease-causing mutations could be predicted through the

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

147 We demonstrated that the disease-causing mutations did not affect the structure o

148 uencing can facilitate the identification of disease-causing mutations even in extremely heterogeneou

149 discriminate between disease-causing and non-disease-causing mutations found in human kinesin motor d

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

151 A variety of disease-causing mutations have been identified throughou

152 vance of domain swapping in FoxP, as several disease-causing mutations have been related to impairmen

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

154 ve traditionally focused on the detection of disease-causing mutations in afflicted individuals.

155 homozygous dominant early onset Alzheimer's disease-causing mutations in amyloid precursor protein (

156 tal testing of prevalent autosomal recessive disease-causing mutations in an assortment of worldwide

157 adly applicable for efficient elucidation of disease-causing mutations in bacterial pathogens.

158 tion of cob(II)alamin bound to CblC and that disease-causing mutations in CblD impair the kinetics of

159 ation was compromised by the introduction of disease-causing mutations in either of the two coupling

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

161 morim et al. studied the abundance of lethal disease-causing mutations in humans and found that, whil

162 Previously characterized disease-causing mutations in IGF2, IGF1R, IGF2R, or IGFA

163 Six patients with rod-cone degeneration and disease-causing mutations in MAK were evaluated with vis

164 Here, we identified novel disease-causing mutations in membrane-associated guanyla

165 opathies, and unravel the locations of human disease-causing mutations in other OLF family members, i

166 agnetic Resonance spectroscopy we reveal how disease-causing mutations in p97 deregulate dynamics of

167 olecular action of AIRE and demonstrate that disease-causing mutations in the AIRE locus are more com

168 Here, we have examined two disease-causing mutations in the NBD1 region of ABCA4, R

169 Disease-causing mutations in the Tower domain are observ

170 "triple negative." We aimed to identify the disease-causing mutations in the triple-negative cases o

171 -based zinc uptake assays and mapping of the disease-causing mutations indicate that the two subdomai

172 The identification of biallelic disease-causing mutations is also diagnostic, but many d

173 h R loops has been described, as well as how disease-causing mutations might participate in the devel

174 V75M, one of many disease-causing mutations occurring in SUMO*motif (72-ps

175 We propose that distinct disease-causing mutations of TrkA generate different lev

176 reveals critical insight into the effects of disease-causing mutations on this important enzyme.

177 he critical role of the ECD is manifested by disease-causing mutations on ZIP4, a representative LIV-

178 We show that disease-causing mutations reduce Brf1 occupancy at tRNA

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

180 fects millions of people worldwide, but many disease-causing mutations remain unknown.

181 Nonetheless, multiple disease-causing mutations reside in NBD2, and the domain

182 and obstacles toward permanent correction of disease-causing mutations responsible for monogenic neur

183 ene with negative results, the screening for disease-causing mutations was performed by whole-exome s

184 Disease-causing mutations were assessed by sequence anal

185 Additionally, disease-causing mutations were identified in 11 other ge

186 Disease-causing mutations were identified in 20 of 398 r

187 t could not identify any further potentially disease-causing mutations, confirming the equivalence of

188 NMDAR gene previously unrecognized to harbor disease-causing mutations, GRIN2D, identified by exome a

189 Some cardiac disease-causing mutations, however, have been associated

190 pensable proteins are the primary targets of disease-causing mutations, human viruses, and drugs, sug

191 We detected tens of thousands of disease-causing mutations, including those involved in c

192 rder to understand this background effect on disease-causing mutations, studies need to be performed

193 The disease-causing mutations, which result in substitution

194 ements present a large mutational target for disease-causing mutations.

195 structural perturbations associated with the disease-causing mutations.

196 t-derived iPSCs, however, would still harbor disease-causing mutations.

197 I, and allows detailed molecular analysis of disease-causing mutations.

198 al function of the channel is altered by the disease-causing mutations.

199 ally in cytoskeletal proteins-and can harbor disease-causing mutations.

200 of genetic disorders by directly correcting disease-causing mutations.

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

202 uman protein-coding gene is likely to harbor disease-causing mutations.

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

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

205 d these to be categorized into 3 groups: (1) disease-causing (n = 15), (2) uncertain status (n = 6),

206 Dengue is the most common vector-borne viral disease, causing nearly 400 million infections yearly.

207 earching for multi-targeted drugs to perturb disease-causing networks instead of designing selective

208 Various diseases causing neuronal damage have resulted in elevat

209 ility to differentiating between neutral and disease-causing non-synonymous mutations documented in t

210 A strategy to overcome disease-causing nonsense mutations is treatment with non

211 issue is whether all reported mutations are disease causing or are coincidental findings.

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

213 al colonization, thus specifically targeting disease-causing organisms.

214 HGT, but the scope of HGT extends far beyond disease-causing organisms.

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

216 Adenovirus (AdV) is th predominant disease-causing pathogen in pediatric HSCT.

217 the complete protective O-antigen of a human-disease-causing pathogenic bacterium is described.

218 nity, common genetic variants (which are not disease-causing per se, but may increase susceptibility

219 ) and peripartum cardiomyopathy (n = 69) for disease-causing PLN mutations by high resolution melt an

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

221 receptors (GPCRs) and the polycystic kidney disease-causing polycystin 1/2 complex.

222 ay explain why these common and normally non-disease causing polymorphic variants of A1AT have been r

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

224 ere, the authors present a method to predict disease-causing potential of LoF variants, ALoFT (annota

225 ripts), a method to annotate and predict the disease-causing potential of loss-of-function variants.

226 Therefore, the disease-causing potential of LP avian H7 influenza A vir

227 er, unlike highly pathogenic H7 viruses, the disease-causing potential of LP H7 viruses from the wild

228 Despite this, the disease-causing potential of the precursor low-pathogeni

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

230 RPGRIP1 interacts with other retinal disease-causing proteins and has been proposed to have a

231 tes that reducing the steady-state levels of disease-causing proteins mitigates neurodegeneration in

232 Often, multiple disease-causing proteins overlap within a given disease

233 ed therapeutically to block the synthesis of disease-causing proteins.

234 age similar toxicity mechanisms as other ALS disease-causing proteins.

235 located on a founder haplotype lacking other disease-causing rare sequence variants.

236 tion allows for unconventional initiation at disease-causing repeat expansions.

237 nza A(H7N9) infection often developed severe disease causing respiratory failure.

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

239 of new ligands with improved selectivity for disease-causing RNA molecules.

240 One major class of disease-causing RNAs is expanded repeating transcripts.

241 in patient-derived fibroblasts and establish disease-causing roles for each kind.

242 Disease-causing RPGR mutations perturb this RPGR-gelsoli

243 Animals), we introduced a curated set of 117 disease-causing SAVs in animals.

244 yofibroblasts complicates many chronic liver diseases causing scarring and organ failure.

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

246 gate vaccine (PCV13) was designed to include disease-causing serotypes that are important in low-inco

247 s would cover 71/73 (97%) and 72/73 (99%) of disease-causing serotypes, respectively.

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

249 cal modeling techniques, drawing upon 10 029 disease-causing single nucleotide variants (SNVs) from H

250 d domains in these networks were enriched in disease-causing SNPs of cognate cell types.

251 cture, dynamics, and function of ENaC in its disease-causing state.

252 , existing in both dormant as well as active disease-causing states.

253 summary, we have successfully validated the disease-causing status of the AIPL1 variations in vitro.

254 ich are not necessarily representative of US disease-causing strains.

255 rriage providing the reservoir for invasive, disease-causing strains.

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

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

258 fusions and differential expression of known disease-causing transcripts by RNA-seq represent some of

259 Our comprehensive analysis of human disease-causing TRPC6 mutations reveals loss of TRPC6 fu

260 11.9 and 17.2 muM against neglected Chagas' disease causing Trypanosoma cruzi, respectively.

261 is C virus (HCV) is a leading cause of liver disease, causing up to 500,000 deaths annually.

262 dyskeratosis congenita caused by an unknown disease-causing variant in DKC1 identified two splice-al

263 ment disease expression and outcome than the disease-causing variant per se.

264 he giant protein titin is the only plausible disease-causing variant that segregates with disease amo

265 ucoma (POAG) patients with a Myocilin (MYOC) disease-causing variant who presented through normal cli

266 Here, we describe the structure of the disease-causing variant, which reveals a large conformat

267 pared with a group of patients with a single disease-causing variant.

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

269 Moreover, the effect of disease causing variants on the DNAm level in a tissue r

270 comitant challenges in the identification of disease causing variants.

271 The vast majority of EA2 disease-causing variants are loss-of-function (LoF) poin

272 always fully penetrant and in some families disease-causing variants are seen in asymptomatic family

273 E population reduced the number of potential disease-causing variants by four- to sevenfold.

274 These disease-causing variants fall into two classes: point mu

275 able to differentiate heterozygous, dominant disease-causing variants from heterozygous carrier varia

276 Disease-causing variants have been identified in 10 telo

277 Overall, we identified disease-causing variants in 21% of cases, with the propo

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

279 Affected individuals were found to harbor disease-causing variants in DRAM2 (DNA-damage regulated

280 tic diagnosis by exome sequencing indicating disease-causing variants in non-coding regions.

281 y of whole-exome screening methods to detect disease-causing variants in patients with PIDDs.

282 Six eyes of 3 subjects with disease-causing variants in RGS9 or R9AP.

283 aged 6 years and older at baseline harboring disease-causing variants in the ABCA4 gene and with spec

284 s, and the United Kingdom who were harboring disease-causing variants in the adenosine triphosphate (

285 We also predicted effects of human disease-causing variants in the mouse model, i.e. we put

286 with non-syndromic RP revealed two plausibly disease-causing variants in TRNT1, a gene encoding a nuc

287 Intuitively, one might expect disease-causing variants to cluster into key pathways th

288 Nine novel disease-causing variants were identified, 8 in LDLR, and

289 sed for the efficient filtering of candidate disease-causing variants, and for the discovery of human

290 table diseases or the coexistence of several disease-causing variants, using exome sequencing as a fi

291 ict human (OMIM) and animal (OMIA) Mendelian disease-causing variants.

292 ng detected HLH gene mutations and potential disease-causing variants.

293 used to exploit GWAS data to identify novel disease-causing variants.

294 nonconsanguineous MCPH families to identify disease-causing variants.

295 genotype unknown cases all revealed putative disease-causing variants.

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

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

298 Disease-causing variations in the ATP-binding sites of A

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

300 tiorum (Lib.) de Bary], a significant fungal disease causing yield and quality losses.