ライフサイエンスコーパス: rare

1 sorder diagnoses near the time of death were rare.

2 in regulatory CGIs, where DNA methylation is rare.

3 sed less often and national-scale models are rare.

4 dynamically tuned over a large scale remain rare.

5 However, application to microbial systems is rare.

6 tive reconstruction in fossil vertebrates is rare.

7 nd use of cardiopulmonary bypass (0.7%) were rare.

8 omass-accessible starting materials are also rare.

9 tigations of their microbial communities are rare.

10 al morbidity, though associated mortality is rare.

11 cts, respectively; however, these events are rare.

12 ures of other mid-face bones are exceedingly rare.

13 ve fibroblasts, whereas in gingiva they were rare.

14 ect induced by an applied magnetic field are rare.

15 rical datasets describing this condition are rare.

16 ly for drylands where data are comparatively rare.

17 n jets interacting with vegetation are still rare.

18 eficient and strained aliphatic molecules is rare.

19 Carbocyclic C-nucleosides are quite rare.

20 nerve destruction and sensory anesthesia are rare.

21 Sudden death is rare.

22 tization and electric polarization are still rare.

23 The discovered CNVs are recurrent and rare (0.01-0.2%), with large effects on height (>2.4 cm)

24 ific membrane antigen-avid malignancies were rare (0.7%) in PC patients; atypical lesions were more c

25 ne and pyrimidine-pyrimidine mismatches were rare (10(-7)-10(-10)).

26 ge PCB losses after cooking were 18+/-5% for rare, 30+/-3% for medium, and 48+/-2% for well-done meat

27 itate selective conversion of 1 and 2 to the rare 5/6/6/7/5- and 5/6/5/8-fused heterocycles 5 and 7,

28 Here we cloned and characterized rare affinity-matured human NANP-reactive memory B cell

29 vel biomarkers and deeper investigation into rare alterations and tumor types, all results are public

30 HIV-1 is rare among viruses for having a low number of envelope g

31 erated a stable cell culture of an extremely rare and aggressive neuroendocrine cervical cancer.

32 nts with hypertrophic cardiomyopathy are not rare and are associated with a more severe phenotype.

33 ve visual deterioration, lymphomatous ONI is rare and characterized by rapidly progressive severe vis

34 ied as relevant to the disease process, with rare and common variation implicated.

35 d with hepatitis C virus (HCV) infection are rare and critical for assessing the potential impact of

36 mud-boring bivalve Kuphus polythalamia This rare and enigmatic species, which achieves the greatest

37 P) is believed to be the cause of a group of rare and fatal neurodegenerative diseases.

38 une cells, which make it possible to observe rare and intermediate cell states that cannot be resolve

39 ch date to the Late Miocene, are exceedingly rare and likewise limited to the Southern Hemisphere [4]

40 -isolated population, and show enrichment of rare and low-frequency variants with predicted functiona

41 In other cancer types, CTCs are generally rare and noninvasive molecular detection relies on circu

42 Portal annular pancreas is a rare and often neglected pancreatic anomaly due to a lac

43 Progressive supranuclear palsy (PSP) is a rare and progressive neurodegenerative condition charact

44 sequence-adjacent cysteine residues are very rare and rather startling structural features which play

45 encing of family samples, 215 genes spanning rare and replication copy number variations, 99 genes ov

46 Burden analyses of rare and singleton variants predicted to be damaging wer

47 crophthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete ab

48 teria to prevent allergic diseases are still rare and to some extent contradicting.

49 Such 'non-clinical' experiences offer a rare and unique opportunity to study hallucinations apar

50 yramidal neurons expressing Kv3.1b were very rare and weakly stained.

51 PCV failure is rare and, compared to PCV7 serotypes, the additional PCV

52 s in sexual displays by non-human mammals is rare and, moreover, cooperation between males in the pur

53 e in patients after liver transplantation is rare, and a broad differential diagnosis has to be consi

54 By contrast, continuous breathing is rare, and detailed characterization has remained very li

55 energy gap law ensures such chromophores are rare, and molecular engineering of absorbers having such

56 ied in P. jirovecii Such cross-reactivity is rare, and our findings suggest that Pca1 is a conserved

57 Robert's uterus is a very rare anomaly which can be very well characterized by mag

58 atible transplantation (ABOi) in children is rare as pretransplant conditioning remains challenging a

59 Live-cell super-resolution imaging is rare, as it is generally assumed to be too slow for dyna

60 Bleeding was rare at presentation (5%) and manifested subsequently in

61 Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by poiki

62 inant bacteria had higher Bd inhibition than rare bacteria in bullfrog and newt populations, in which

63 Retroperitoneal ganglioneuroma is a rare bening tumor, generally asymptomatic, which grows s

64 Seven of 42 patients (16.7%) carried rare biallelic (homozygous or compound heterozygous) non

65 Deficiency of factor X (F10) in humans is a rare bleeding disorder with a heterogeneous phenotype an

66 engineered ebolavirus vaccines could trigger rare bNAb precursors more robustly.

67 ACC is a rare but aggressive tumor.

68 Hunter syndrome is a rare but devastating childhood disease caused by mutatio

69 emerged as a dangerous pathogen that causes rare but life-threatening infections.

70 Complications were rare but more common among patients with ASB treated wit

71 ttempt to quantify the global burden of this rare but serious condition.

72 and toxic epidermal necrolysis (SJS/TEN) are rare but severe adverse reactions with high mortality.

73 Naturally occurring botulism is rare, but a large number of cases could result from unin

74 h to staging and risk stratification in this rare cancer.

75 Rare cancers pose challenges for diagnosis, treatments,

76 5-year relative survival for all rare cancers was 48.5% (95% CI 48.4 to 48.6), compared w

77 Restrictive cardiomyopathy (RCM) is a rare cardiomyopathy characterized by impaired diastolic

78 the membrane, then particle wrapping, and in rare cases spontaneous membrane tubulation.

79 originating from transcribed genes that, in rare cases, comprised exons with orientations and frames

80 In rare cases, VZV can give rise to life-threatening diseas

81 Mb across four chromosomes, further defining rare categories of extreme cxSV.

82 We highlight a rare cause of ALF.

83 variant (lineage II) of Powassan virus, is a rare cause of encephalitis in North America.

84 Mutations in PARK7 are a rare cause of familial recessive Parkinson's disease (PD

85 Systemic capillary-leak syndrome is a very rare cause of recurrent hypovolemic shock.

86 uld significantly improve the sensitivity of rare cell isolation devices by increasing the processed

87 nnotations from difficult-to-characterize or rare cell populations.

88 e investigation of chromatin architecture in rare cell populations.

89 to detect a variety of aneuploid circulating rare cells (CRCs), including CTCs and circulating tumor

90 ptomic and genomic characterization of these rare cells and help define their characteristics.

91 actions in patient-derived samples including rare cells.

92 a high risk of sample loss of the collected rare cells.

93 Identification of rare CFH variant carriers may be important for upcoming

94 Rare CNVs were found in <1.5% of brains, including copy

95 Rare CNVs with >/= 100 kb length were identified using a

96 nstrate loss-of-function effects of multiple rare coding SNVs found in SCZ subjects in the GIT1 (G pr

97 d whether functional classification of HNF1A rare coding variants can inform models of diabetes risk

98 While proteins with conserved rare codon clusters are structurally and functionally di

99 Synonymous rare codons are considered to be sub-optimal for gene ex

100 Hereditary mixed polyposis syndrome is a rare colon cancer predisposition syndrome caused by a du

101 rong thermodynamic forcing available only to rare combinations of chemical concentrations.

102 o delineate the full genetic architecture of rare complex diseases.

103 Short QT syndrome (SQTS) is a rare condition characterized by abnormally 'short' QT in

104 omatosis peritonealis disseminata (LPD) is a rare condition characterized by formation of multiple le

105 The nature of this rare condition remains unknown.

106 Fortunately, this remains a rare condition.

107 y airway malformation (CPAM) is a relatively rare congenital anomaly with a wide spectrum of ultrasou

108 Rare copy number variants contribute significantly to th

109 To determine whether rare, damaging mutations shared identity-by-descent in f

110 This study contributes to the very rare data on OCPs in the vast deep-water compartments an

111 Rare, deleterious, nonsynonymous, or loss-of-function va

112 This group of rare designed hexasaccharides will help understand HCII

113 The severe scoliosis in most individuals and rare developmental coxa vara distinguish individuals wit

114 standing of the molecular mechanisms of this rare disease and, eventually, to improve the management

115 very, this study demonstrates the utility of rare disease genomic studies to parse gene function in h

116 cell acute lymphoblastic leukemia (ALL) is a rare disease in adults with inferior survival outcomes c

117 A report on the 11th Genomics of Rare Disease meeting held at the Wellcome Genome Campus,

118 l intrahepatic cholestasis type 3 (PFIC3), a rare disease that can be lethal in the absence of liver

119 Although overall still a rare disease, adolescent type 2 diabetes now poses major

120 ied extensively, childhood HGG, a relatively rare disease, is less well-characterized.

121 ulating small sample volumes without loss of rare disease-causing cells.

122 rtium of the National Institutes of Health's Rare Diseases Clinical Research Network, which consists

123 that could shed light on the pathogenesis of rare diseases of the optic disc.

124 a substantial part of undiscovered causes of rare diseases.

125 variants in the context of sudden death and rare diseases.

126 thyltransferase DNMT3B cause majority of the rare disorder Immunodeficiency, Centromere instability a

127 We show that ultra-rare disorders caused by private, non-recurrent missense

128 cal studies to inform the treatment of these rare disorders.

129 lude that tropical elevational generalism is rare due to evolutionary instability.

130 with leachates from metal-mine tailings and rare earth deposits, we show that functionalization of t

131 Here, the authors synthesize rare earth down-converting nanocrystals as promising flu

132 ncentrates (UOC) prior to the analysis of 14 rare earth elements (REE) via laser ablation inductively

133 Purification of rare earth elements is challenging due to their chemical

134 grees C/900 degrees C by using yttrium-based rare earth manganites.

135 in the thermolytic production of luminescent rare earth metal doped silica nanoparticles with charact

136 of our recently isolated 12-connected (12-c) rare-earth (RE) nonanuclear [RE9(mu3-OH)12(mu3-O)2(O2C-)

137 the Gilbert damping, caused by the inclusion rare-earth dopants such as holmium, acts to suppress Wal

138 e synthesis of a down-conversion luminescent rare-earth nanocrystal with cerium doping (Er/Ce co-dope

139 with the crystal structure across the MIT in rare-earth nickelates.

140 ctricity, as in the much studied families of rare-earth orthoferrites and orthochromites; yet, the me

141 ructure of ions and vacancies characterizing rare-earth pyrochlore oxides serves as a model for the s

142 MOF-5, a hybrid microporous highly connected rare-earth-based metal-organic framework (MOF), with dua

143 tion mutualisms were historically considered rare ecological relationships, but recent examples demon

144 Although gallium (Ga) is a rare element, it is widely used in semiconductor devices

145 are believed to be centres of production of rare elements such as gold and platinum.

146 e comparison of current and new protocols is rare even in preclinical settings.

147 Many of these studies focus on rare event categorical data, and functional genomics stu

148 ne transfer between vascular plants is not a rare event, that it is not necessarily restricted to one

149 nus ponderosa genetic experiment, we provide rare evidence of context-dependent fluctuating selection

150 Complex 3 is a rare example of a high-spin (S = 1) {FeNO}(8) and is the

151 This work uncovers a rare example of an ancient system of complex morphologic

152 The photochemistry itself provides a rare example of one electron oxidized halide species coo

153 hogenic spirochete Leptospira interrogans, a rare example of PerR lacking a structural metal-binding

154 rculosis aptamers produced high signals were rare exceptions.

155 For rare exonic deletions, the schizophrenia group had, on a

156 L) and primary testicular lymphoma (PTL) are rare extranodal large B-cell lymphomas with similar gene

157 ted by experimental validation, predict that rare fixers will invade a population dominated by non-fi

158 Primary CNS lymphoma (PCNSL) is a rare form of extranodal non-Hodgkin lymphoma that is typ

159 However, rare forms of familial Alzheimer's disease are associate

160 ound no evidence of T2D risk association for rare frequency variants outside of previously known T2D

161 ally significant associations were found for rare functional variants in BBS1, BBS9, GNAS, MKKS, CLOC

162 Myotonic dystrophy Type 1 (DM1) is a rare genetic disease caused by the expansion of CTG trin

163 the Human Phenotype Ontology in the study of rare genetic diseases.

164 and host-pathogen interactions, cancer, and rare genetic diseases.

165 15q13.3 microdeletion syndrome is a rare genetic disorder, caused by submicroscopic deletion

166 The ichthyoses are rare genetic disorders associated with generalized scali

167 To identify common or rare genetic variation with potential therapeutic implic

168 le to identify effects on gene expression of rare genic CNVs and regulatory single-nucleotide variant

169 agnosis usually requires a suspicion of this rare genitourinary syndrome.

170 families with BD is effective in identifying rare genomic variants of potential clinical relevance an

171 en then, patients with broad immunization or rare haplotypes may not have suitable donors.

172 quent haplotypes and negative (Dij'<0) among rare haplotypes.

173 Single-gene disorders may cause rare, hereditary disorders for which stroke is a primary

174 hose erupted at Hawaii and Iceland, can host rare, high (3)He/(4)He isotopic ratios (up to 50 times t

175 um of autistic disorders - whether caused by rare highly penetrant mutations or sporadic forms - and

176 selection can be used to recover relatively rare homologous recombination events.

177 Rare homozygous and compound-heterozygous nonsense (c.12

178 While rare in adults, AMKL accounts for 4-15% of newly diagnos

179 ssions for EOS (within 7 days of birth) were rare in all periods (5.2 per 100000 births in the baseli

180 Typical EPEC infection is rare in animals and poorly reproduced in experimental an

181 s unknown why the CSF3R mutations, which are rare in de novo AML, are so prevalent in SCN/AML.

182 on the clinical effects of alleles that are rare in general populations but occur at higher frequenc

183 Both mutations are extremely rare in human populations and have pathogenicity scores

184 These mutations are quite rare in most Western countries but not so in certain reg

185 for why extinctions due to Allee effects are rare in social species.

186 Stercoral colitis is a rare inflammatory process involving the colonic wall sec

187 Erythropoietic protoporphyria (EPP) is a rare inherited disorder of the heme biosynthesis pathway

188 Probands with DNMs or rare inherited mutations in the 67 candidate genes exhib

189 n-Gaussian, with long tails corresponding to rare intermittent forcing that precedes switching and bu

190 xplain part of this increase, but, as T1D is rare, intervention studies are challenging to perform.

191 Rare intraocular manifestations of ECD confirmed on hist

192 TP53, CI leads to the development of several rare K-ras-independent forms of PC, with infrequent PDAC

193 correlated with speciation rates, providing rare, large-scale evidence that rapid morphological chan

194 lls, a requirement for detecting exceedingly rare latently infected cells.

195 RARRES2 in adrenocortical carcinoma (ACC), a rare lethal malignancy in which aberrant Wnt/beta-cateni

196 gangliomas, pheochromocytoma) and other very rare locations.

197 ases and 4,093 ancestry-matched controls for rare (< 1% frequency) copy-number variants (CNVs) using

198 We identified 68 rare (<0.1% in public and in-house control datasets) non

199 in both AS cases and controls apart from two rare (<0.5%) previously unreported haplotypes.

200 A multi-marker gene-level analysis of rare (<1% frequency) single-nucleotide variants (SNVs) r

201 We enumerated 49,138 rare (<1% minor allele frequency) pLoF mutations.

202 238 single nucleotide polymorphisms that are rare (<1%) or absent in European populations, but occur

203 Despite being twice as rare (MAF<0.5%), c.1114C>T showed similar effect and sig

204 Anaplastic thyroid cancer (ATC) is a rare malignancy that accounts for 1%-2% of all thyroid c

205 Liposarcomas are rare malignant tumors of adipocytic differentiation.

206 s in HCS cause holocarboxylase deficiency, a rare metabolic disorder that can be life-threatening if

207 Rare microdeletions in PWS patients define a 91-kb minim

208 Rare missense coding FYCO1 variants were present in 11.3

209 We recently reported that a rare missense mutation in the gene for the transcription

210 , for which multiple unrelated NHW cases had rare missense variants, was significantly associated wit

211 red to achieve an accurate quantification of rare molecular species.

212 the often-diverse phenotypes of an extremely rare monogenic disorder.

213 se from the endoplasmic reticulum in several rare monogenic syndromes highly comorbid with autism - f

214 es, such as Behcet disease, can be caused by rare monogenic variants in genes of the NF-kappaB pathwa

215 Rare mutations in IRF6 and GRHL3 cause Van der Woude syn

216 TDP-43 in their brains and spinal cords, and rare mutations in the gene encoding TDP-43 can cause ALS

217 ies, with a high prevalence of comparatively rare native algal species.

218 Neuroendocrine neoplasms (NEN) are rare neoplasms that originate from neuroendocrine cells

219 ystrophy (DMD) is a severe, progressive, and rare neuromuscular, X-linked recessive disease.

220 in LCLs in the Hutterites suggest that these rare non-coding variants are likely to mediate their eff

221 hile AIDS-defining illnesses were relatively rare, non-AIDS-defining infection hospitalizations were

222 Association of rs61754411, a rare nonsynonymous variant in PTPRO, with emphysema and

223 inuous, OR, 1.64, P = .03 for difference; 8% rare/occasional vs 15% frequent, OR, 2.71, P = .03, vs 2

224 n state as in arsenopyrite (FeAsS), although rare occurrences of As(III) and As(II) have been reporte

225 digm, in which frequent standard stimuli and rare oddball stimuli were presented at central and perip

226 ed chaetognath bodies, in contrast, are very rare: only two unequivocal specimens have been reported,

227 Although rare, ophthalmologic manifestations that are rapidly rec

228 OT) recipients are at risk of nocardiosis, a rare opportunistic bacterial infection, but prognosis an

229 CellCognition Explorer enables discovery of rare phenotypes without user training, which has broad i

230 Associations of rare pLoF variant pathways with AMD sub-phenotypes were

231 ole genome sequencing data were analyzed for rare pLoF variants (frequency <0.1%) in the regions of p

232 Despite the fairly rare prevalence of cerebral metastases in NENs, a neurol

233 tion and provide a useful tool to study this rare process and develop it as a biotechnological applic

234 Although long thought to be rare, protein-based epigenetic inheritance has now been

235 re causal of gray platelet syndrome (GPS), a rare recessive bleeding disorder characterized by platel

236 ratures at sites where P. helianthoides were rare) reduced predation rates regardless of predator and

237 uited to the -1.1 kb PRE and the -130 bp PRE/RARE regions with P4, but not RA alone or RA plus P4.

238 rk for future studies aimed at understanding rare reproductive conditions.

239 and simultaneous detection of four different rare RNA species from plant, Arabidopsis thaliana, using

240 aran sulfate hexasaccharides we identified a rare sequence consisting of consecutive glucuronic acid

241 A schizophrenia-associated rare sequence variant in TGEF1 (F1538Intron) was substan

242 inophilia and systemic symptoms (DRESS) is a rare severe adverse drug-induced reaction with multiorga

243 While it usually goes unnoticed, some rare severe clinical cases of primary HCMV infection hav

244 Omenn syndrome (OS) is a rare severe combined immunodeficiency associated with au

245 ber bleb nevus syndrome (Bean syndrome) is a rare, severe disorder of unknown cause, characterized by

246 te these remarkable advances, concerns about rare side-effects of anti-resorptive drugs, particularly

247 We discovered two rare signals that strongly associate with osteoarthritis

248 Such rare situation calls for realistic efforts of de-extinct

249 For the rare skin disease trichodysplasia spinulosa, we show tha

250 The proportion of extremely rare SNPs disrupting SREs is significantly higher in Eur

251 ects are often observed in anthropogenically rare species.

252 ng proportions of tissue from an additional "rare" species.

253 vailable for several Last Glacial pollen and rare speleothem archives principally located in the Medi

254 omen with this disorder develop POI, however rare spontaneous pregnancies have been reported.

255 As part of the International Consortium for Rare Steroid Disorders, we have diagnosed and followed t

256 Although rare, Stevens-Johnson syndrome and toxic epidermal necro

257 ses carry one of these CNVs, indicating that rare structural variation contributes significantly to t

258 program in which expression is displayed in rare subpopulations of cells.

259 T memory stem (TSCM) cells are a rare subset of memory lymphocytes endowed with the stem

260 Spastic paraplegia type 5 (SPG5) is a rare subtype of hereditary spastic paraplegia, a highly

261 Mutations causing rare syndromic craniosynostoses in humans and engineered

262 These rare taxa of normal skinfold microbiota were associated

263 hanced arthropod abundance, particularly for rare taxa.

264 s into whether convergence is more common or rare than we would expect.

265 non-cellular transmission of mycoviruses is rare, the founding infections may be ancient, preserved

266 Although adult rhabdomyosarcomas are very rare, this case highlights the advantage of MRI over CT

267 Yet, topological superconductors are rare to date.

268 at the slow translation of codons decoded by rare tRNAs reduces efficiency.

269 only bind to select tRNA species, including rare tRNAs, but also inhibit HIV replication.

270 Chordomas are rare tumors that can develop anywhere along the craniosp

271 Circulating tumour cells (CTCs) are rare tumour cells found in the circulatory system of cer

272 for homozygous deletions, aiming to identify rare tumour suppressors.

273 Scar pregnancy is an extremely rare type of ectopic pregnancy, where there is implantat

274 past year) were more likely to report never/rare use of protective clothing (adjusted prevalence rat

275 geny-based immunogens designed to select for rare V2-bNAb precursors, and drive them toward breadth.

276 Finally, in contrast to the rare vaccine-elicited Env-specific IgA in infants, rgp12

277 One bipolar disorder-associated rare variant (M2145T) in TGEF2 impaired inhibition by th

278 For rare variant aggregate analysis, an exome-wide significa

279 ociation studies, as well as copy number and rare variant analyses.

280 nalysis for common variants (MAF > 0.01) and rare variant analysis for low frequency and rare variant

281 lyses will increase the power of common- and rare-variant association studies.

282 rare variant analysis for low frequency and rare variants (MAF < 0.05).

283 ollapsing [p = 1.48 x 10(-6)], and burden of rare variants [p = 1.48 x 10(-6)]).

284 Whole exome sequencing identified two COL6A5 rare variants co-segregating with chronic itch in eight

285 study participants in the DRC, we identified rare variants for complete genome sequencing.

286 ected IS patients to have an accumulation of rare variants in ciliary genes.

287 t to re-examine the significance of multiple rare variants in patients with hypertrophic cardiomyopat

288 imed to reveal the selective accumulation of rare variants in the coding and the UTR sequences within

289 Rare variants in the complement factor H (CFH) gene and

290 In age-related macular degeneration (AMD), rare variants in the complement system have been describ

291 Genetic factors, such as rare variants in the microglial-expressed gene TREM2, st

292 ons on the contribution of low-frequency and rare variants to human traits.

293 rrors that otherwise make detection of these rare variants very difficult.

294 rtain significance, and 14 (4%) had multiple rare variants.

295 count, aggregate tests of low-frequency and rare variation were significantly associated across mult

296 epithelioid hemangioendothelioma (HEHE) is a rare vascular tumor which has an intermediate aggressive

297 e two times more likely to be homozygous for rare very deleterious mutations present in Europeans.

298 ty conditions using a multivalent immunogen, rare VRC01-class B cells successfully competed in germin

299 nal data suggests that interarterial ALCA is rare (weighted prevalence = 0.03%; 95% confidence interv

300 mediated food allergy caused by jellyfish is rare worldwide.