ライフサイエンスコーパス: constitutional

1 (2), hepatic (1), pain (3), coagulation (1), constitutional (1), and dyspnea (1).

2 ction (11%), pulmonary (11%), cardiac (11%), constitutional (11%), and dermatologic (11%).

3 n to nonsyndromic Wilms tumor and identified constitutional 11p15 abnormalities in genomic lymphocyte

4 impact on clinical management dictates that constitutional 11p15 analysis should be considered in al

5 Our data identify constitutional 11p15 defects as one of the most common k

6 Strikingly, all 5 patients with constitutional 1q12 rearrangements showed amplifications

7 ), gastrointestinal (24%), neurologic (18%), constitutional (20%), infection (16%), and anemia (14%).

8 ms and were mainly infections (6.5% to 11%), constitutional (3.5% to 9.5%), and cardiac (4.5% to 6%),

9 Toxicities were mainly constitutional (51%), dermatologic (82%), and GI (52%);

10 t chromosomal aberrations in samples bearing constitutional aberrations as well tumor samples at sub-

11 Constitutional abnormalities at the imprinted 11p15 grow

12 Constitutional abnormalities of chromosome 11p15 occurre

13 a child with extreme megalencephaly due to a constitutional AKT3 mutation.

14 Finally, our data show that constitutional AKT3 mutations are associated with megale

15 he common p.E17K mutation, and patients with constitutional AKT3 mutations exhibiting more variable p

16 tions, megalencephaly and heterotopia due to constitutional AKT3 mutations.

17 nomatosis probands identified one additional constitutional alteration.

18 umptive' schwannomatosis previously revealed constitutional alterations in 13 of 19 families (68%).

19 Constitutional and acquired disease is poorly delineated

20 verse disease phenotypes as a result of both constitutional and acquired factors that influence MPN s

21 The majority of constitutional and all aphidicolin-induced CNVs appear t

22 Few studies have examined the constitutional and behavioral factors associated with a

23 t insights into follicular lymphoma identify constitutional and environmental predisposition further

24 lness associated with severe lung injury and constitutional and gastrointestinal symptoms.

25 (AEs) in patients with AML were grade 1 or 2 constitutional and gastrointestinal toxicities, which we

26 6], sustained attention is often viewed as a constitutional and individual property of the infant [6-

27 Constitutional and mosaic mutations in the PIK3R2 gene a

28 neration sequencing by smMIPs, we identified constitutional and mosaic PIK3R2 mutations in 17 additio

29 ghly debilitating disease with heterogeneous constitutional and neurological complaints.

30 d out, and results show that isomerism, both constitutional and stereochemical, affects the orientati

31 thods that enable the selective formation of constitutional and stereoisomeric dimers from a single m

32 re multiple and involve components of both a constitutional and therapy-related nature.

33 15 common symptoms daily (gastrointestinal, constitutional, and oropharyngeal) and absences from wor

34 of chromosomal instability, in patients with constitutional aneuploidy by precise background-filtered

35 no case did the rate of somatic mosaicism in constitutional aneuploidy exceed that of "chromosomally

36 Constitutional aneuploidy is typically caused by a singl

37 Our findings show that even though constitutional aneuploidy was in some cases associated w

38 the hematopoietic phenotypes observed in the constitutional Asxl1(-/-) mice.

39 rlem Brundtland--including invocation of its constitutional authority to develop treaties.

40 stem cells and in zebrafish revealed that a constitutional BCL11B mutation caused human multisystem

41 of hypocellular myelodysplastic syndrome and constitutional BM failure masquerading as apparent idiop

42 terality of breast cancer is an indicator of constitutional cancer susceptibility; however, the molec

43 We identified constitutional cancer-predisposing mutations in 33 indiv

44 lack enzymatic activities present in normal constitutional cells.

45 l Organ Transplant Act of 1984 (NOTA) from a constitutional challenge, but interpreted the act such t

46 standard deviation (SD)-scores adjusted for constitutional characteristics.

47 Consideration of the constitutional chemical relationships between glycolalde

48 ngth scales, from Euclidean point chirality (constitutional chirality) via molecular entanglement (co

49 wever, the coordinated epigenetic effects of constitutional chromosomal rearrangements that disrupt g

50 were denied a liver transplant, 2 involved a constitutional claim for patient requesting a bloodless

51 The risk of a constitutional claim highlights concrete steps needed to

52 religion, nationality-the case may involve a constitutional claim.

53 CNVs and the subset of larger nonhomologous constitutional CNVs.

54 acceleration or retardation, and serves as a constitutional component for the "rebound model" of memo

55 er that could inform human idiopathic ASD, a constitutional condition.

56 e striking feature of carbohydrates is their constitutional, conformational and configurational diver

57 bicyclic architectures with a high level of constitutional control.

58 lly duplicated regions and primarily reflect constitutional copy number polymorphisms, many subtle im

59 olecular exchange, thus merging motional and constitutional covalent behavior within the same molecul

60 with non-DS patients, but suffer from higher constitutional cytotoxic drug susceptibility.

61 rmutation: a de novo pathway associated with constitutional defects in DNA polymerase and mismatch re

62 in DNA integrity also predispose patients to constitutional defects in growth and development.

63 germline variants predispose to MPN and link constitutional differences in MYB expression to disease

64 dation (XLMR), the largest direct screen for constitutional disease-causing mutations thus far report

65 y as a possible symptom of a more general or constitutional disease.

66 the diagnosis and management of adult-onset constitutional disorders has not been adequately studied

67 s usefulness has yet to be examined for most constitutional disorders in adults, including chronic ki

68 mic alterations (CGRs and AOH) implicated in constitutional disorders.

69 discriminated by the formation of different constitutional distributions, which result from the adap

70 reasons for the wide substrate scope and the constitutional diversity of the reaction, which gives ac

71 t may not correctly represent primary T cell constitutional diversity.

72 We assessed constitutional DNA for nine common polymorphisms in mela

73 d, paraffin-embedded tumor tissue along with constitutional DNA isolated from peripheral blood, bucca

74 Constitutional DNA of each subject was genotyped using t

75 ld DNA, the genotype of the cDNA matched the constitutional DNA of the child.

76 % of them, and was the only recurrent CNV in constitutional DNA samples.

77 LOY in constitutional DNA, but not in tumor DNA was associated

78 A feature in patients with constitutional DNA-mismatch repair deficiency is agenesi

79 of MDS, who had stored bone marrow (BM) and constitutional DNA.

80 als with genomic disorders carry five to ten constitutional dnCNVs.

81 enting a complex combination of motional and constitutional dynamic behaviors.

82 phisticated "monomer" in a template-directed constitutional dynamic imine polymerization to prepare a

83 Constitutional dynamic libraries (CDLs) of hydrazones, a

84 Two constitutional dynamic libraries (CDLs)-each containing

85 Constitutional dynamic libraries of hydrazones (a)A(b)B

86 The latter are available from constitutional dynamic libraries, thus providing the opt

87 The distribution of the constituents of a constitutional dynamic library (CDL) may undergo time-de

88 Thus, the constitutional dynamic network (CDN) representing the co

89 (here water and chloroform) results in a 3D constitutional dynamic network (CDN), effecting distribu

90 m exemplifies the splitting of a 2D (square) constitutional dynamic network into a 3D (cube) one.

91 nucleic acids to construct three-dimensional constitutional dynamic networks (3D CDNs) consisting of

92 ed proteins, we introduce nucleic acid-based constitutional dynamic networks (CDNs) as functional mod

93 we introduce nucleic acid-based dissipative constitutional dynamic networks (CDNs) that exhibit tuna

94 ntroduce the evolution of nucleic-acid-based constitutional dynamic networks (CDNs) that follow repro

95 nucleic acids to construct signal-triggered constitutional dynamic networks (CDNs) that mimic the fu

96 Constitutional dynamic networks (CDNs), composed of exch

97 Different applications of constitutional dynamic networks are introduced including

98 These changes may be represented by square constitutional dynamic networks that display up-regulati

99 ures to construct effector (input)-triggered constitutional dynamic networks that reveal adaptable ca

100 The emergence of nucleic acid-based constitutional dynamic networks, CDNs, from a pool of nu

101 eic acids as functional modules to construct constitutional dynamic networks, CDNs, mimicking natural

102 The libraries described represent constitutional dynamic systems capable of acting as info

103 The third is library-level (constitutional dynamics), where a dynamic constitutional

104 ition to certain malignancies, are caused by constitutional dysregulation of RAS signalling predomina

105 om leaky vessels, and/or connecting with the constitutional endothelial-lined vasculature.

106 of 38.0 degrees C and/or vomiting, and/or a constitutional/enteric symptom graded at least as "moder

107 Newly identified constitutional epigenetic defects in Wilms tumor genes e

108 asymptomatic parent can produce a nonmosaic constitutional epimutation in a child.

109 methylation of 1 allele throughout the soma (constitutional epimutation) is an accepted mechanism of

110 duced CNVs were of a larger median size than constitutional events even when mate-pair data were cons

111 l (constitutional dynamics), where a dynamic constitutional evolution of the system was achieved by t

112 for the etiology of insanity, hereditary or constitutional factors were critical predisposing causes

113 e was observed in platelets of patients with constitutional (familial platelet disorder/acute myeloid

114 side, surgical extent, length of follow-up, constitutional/familial disease, pre-existing lung cysts

115 ngs suggest that in the context of identical constitutional genetic background and environmental expo

116 CI = 3.1-4.3) and provides a model whereby a constitutional genetic factor is associated with an incr

117 This suggests an underlying constitutional genetic predisposition to these somatic c

118 We hypothesized that constitutional genetic variation in the p53 pathway woul

119 To identify constitutional genetic variations contributing to ovaria

120 n the present study, we investigated whether constitutional genetic variations in DNA repair predispo

121 plication-based mutational signature seen in constitutional genomic disorders, suggesting that inters

122 this end, we carried out exome sequencing of constitutional genomic DNA from 24 breast cancer patient

123 Constitutional genomic DNA from subjects with known inhe

124 flanking regulatory regions of the gene from constitutional genomic DNA of 1,144 familial breast canc

125 tosomal recessive Mendelian disorder display constitutional genomic instability and an elevated risk

126 ndrome with prominent dermatologic features, constitutional genomic instability, and an elevated risk

127 sceptibility to BCP-ALL and the influence of constitutional genotype on disease development.

128 Constitutional (germline) mutations in any of three gene

129 hemical characteristics of sample fragments (constitutional heterogeneity) and the diversity of spati

130 Constitutional hypermethylation of 1 allele throughout t

131 sustain mosaic, somatic ablation of Wt1 and constitutional Igf2 upregulation, mimicking a subset of

132 Mutations were constitutional in 12 patients and mosaic in eight patien

133 n 42%, leukopenia in 25%, anemia in 15%, and constitutional in 15% of patients.

134 s the first ribosomopathy described and is a constitutional inherited bone marrow failure syndrome.

135 ' with previous results obtained for a close constitutional isomer (TIPS-BT1) differing in the placem

136 transfer (1,5-HAT) that was observed in its constitutional isomer 1-H with four mPEG-3 groups in the

137 the cyclobutyl analogue 1 to its cyclohexyl constitutional isomer 5 via a vinyl cyclobutane rearrang

138 ttempt to understand which factors influence constitutional isomer control of 6'- and 8'-substituted

139 sis are explored using diesel fuel, in which constitutional isomer distribution patterns are shown to

140 natural product, hamiguanosinol, which is a constitutional isomer of 1, to 5 by interpretation of th

141 However, the first constitutional isomer of porphyrin, porphycene, was not

142 ,11-dithia-4,8-diazacyclotetradecane (L1), a constitutional isomer of the macrocyclic [14]aneN(2)S(2)

143 TBHP(aq) as oxidant to deliver single ketone constitutional isomer products in a predictable fashion

144 of 3,4,5-trisubstituted and two libraries of constitutional isomeric 3,4- and 3,5-disubstituted biphe

145 self-assembled into helical pores, with its constitutional isomeric conical dendron.

146 eochemical analysis for the formation of the constitutional isomeric halogenated C(15)-acetogenin med

147 ary structures derived from quasi-equivalent constitutional isomeric libraries of self-assembling den

148 A constitutional isomeric library synthesized by a modular

149 ss spectrometry was utilized to identify the constitutional isomerism in the minor asymmetric [1(5)2(

150 allyliridium-formaldehyde pairs, yet single constitutional isomers are formed.

151 l molecules, it was observed that in general constitutional isomers are more readily separated by uni

152 Constitutional isomers are resolved on the basis of t(R)

153 thium complexes of C-2 and C-5 dianionic NHC constitutional isomers as well as a trianionic (C-2, C-5

154 Two novel macromolecular constitutional isomers have been self-assembled from pre

155 reacted to afford the cycloadducts as single constitutional isomers in 48-80% yields and diastereomer

156 y, further characterization of the separated constitutional isomers indicated that they possess diffe

157 signment of the two ribose adducts being the constitutional isomers of an S- and an O-adduct of bisul

158 We herein report the preparation of constitutional isomers of pentahydroxy-functionalized pi

159 Tautomerization in porphycenes, constitutional isomers of porphyrins, is strongly entang

160 f unknown hydrocarbons and the resolution of constitutional isomers significantly improves resolution

161 When NH3 was the nucleophile, a set of constitutional isomers that are diastereotopic were also

162 molecules, as the three amphiphilic foldamer constitutional isomers that formed hydrogels upon heatin

163 that the yield distribution of the different constitutional isomers was dependent on the nature of th

164 DeltaE(ST) and the optical energy gap of two constitutional isomers where only the boron and nitrogen

165 nt connectivity (bonds) between their atoms (constitutional isomers) and/or a different arrangement i

166 are introduced with regard to nomenclature, constitutional isomers, and optoelectronic properties.

167 lyporphins L and M have been revised to four constitutional isomers, isolated as two mixtures of diox

168 A comparison between two constitutional isomers, only one of which is capable of

169 ng chiral and achiral drugs and metabolites, constitutional isomers, stereoisomers, and organohalogen

170 rrangement that leads to interconversions of constitutional isomers.

171 of suitable guest molecules can lead to two constitutional isomers.

172 nts that preferentially form each of the two constitutional isomers.

173 include the characterization of structural (constitutional) isomers.

174 sease is strongly associated with a specific constitutional JAK2 haplotype, designated 46/1, in all t

175 l laws on which the enforcement of all other constitutional laws may be based.

176 its sustainability and ability to fulfil its constitutional mandate of providing health care for all.

177 The constitutional MdnCNV phenomenon resembles chromosomal i

178 chronic thrombocytopenia caused by distinct constitutional microdeletions involving chromosomal regi

179 ovel mutation in the MSH6 gene that leads to constitutional mismatch repair deficiency syndrome and i

180 air deficiency (BMMRD) syndrome, also called constitutional mismatch repair deficiency syndrome.

181 ith familial adenomatous polyposis, two with constitutional mismatch repair deficiency, two with bial

182 llelic PMS2 germline mutations, representing constitutional mismatch-repair deficiency.

183 nd 33 affected relatives) heterozygous for a constitutional missense mutation affecting one of five n

184 h early-onset colorectal cancer who showed a constitutional MLH1 epimutation (approximately 50% of al

185 Lynch syndrome (13, MLH1 [including one with constitutional MLH1 methylation]; 16, MSH2; 1, MSH2/mono

186 but severe variant of Lynch syndrome called constitutional MMR deficiency (CMMRD).

187 VUS in MMR genes and identify patients with constitutional MMR-deficiency syndrome.

188 Constitutional mosaic aneuploidies, microcephaly, develo

189 ss-of-function CEP57 mutations as a cause of constitutional mosaic aneuploidies.

190 ity, when compatible with life, manifests as constitutional mosaicism, chimerism, and mixoploidy in l

191 Intriguingly, the constitutional mutation causing HHT is present throughou

192 ngioma cohort, 34 of 63 patients (54%) had a constitutional mutation in a known meningioma predisposi

193 atients (55%) with a spinal schwannoma had a constitutional mutation, while only 20 (18%) with a cran

194 Denys-Drash syndrome is associated with constitutional mutations in the Wilms tumor suppressor g

195 that was alleviated by both the somatic and constitutional mutations.

196 Twenty-five of 63 patients (40%) had a constitutional NF2 mutation, and 9 (14%) had a constitut

197 This suggests a constitutional or inherited basis, and yet many of them

198 ted during an 8-month surveillance: no overt constitutional or neurologic dysfunction was noted for a

199 Strategies for altering constitutional or somatic genotype in mice are well esta

200 omparator tissue to determine somatic versus constitutional origin but had poor diagnostic sensitivit

201 his same mutation is also overrepresented in constitutional pathogenic and polymorphic variants, sugg

202 nly 20 (18%) with a cranial schwannoma had a constitutional predisposition (P < .001).

203 to halogen-metal exchange reactions than its constitutional pseudo-ortho or pseudo-para isomers.

204 The two constitutional racemic isomers, 4a and 4b, were separate

205 Molecular testing found constitutional RB1 gene mutations in only nine of 100 ev

206 l blood cultures of 5 patients with balanced constitutional rearrangements of 1q12 and 5 controls wit

207 d guest is engaged in continuous, degenerate constitutional rearrangements, is still elusive, however

208 in an acetonitrile/water mixture, undergoes constitutional reorganization upon phase separation indu

209 nnate and acquired immunity to weaknesses in constitutional resistance.

210 Access to healthy food is a constitutional right of all South Africans, and towards

211 f liver transplant candidacy in violation of constitutional rights.

212 we show that individuals born with the rare constitutional Robertsonian translocation between chromo

213 We further extract constitutional scaling relationships between the pulsati

214 r cycloadditions have been extended in their constitutional scope.

215 No case of constitutional SDHC promoter hypermethylation was detect

216 e sensitivity of detection methodologies and constitutional selectivity of biomolecules.

217 re patients on interferon gamma-1b group had constitutional signs and symptoms (influenza-like illnes

218 s after challenge and assessed for local and constitutional signs of influenza as measured by surviva

219 ides underwent cross-coupling with excellent constitutional site-selectivity and excellent stereospec

220 Constitutional SMARCB1 mutations at 22q11.23 have been f

221 nstitutional NF2 mutation, and 9 (14%) had a constitutional SMARCE1 mutation.

222 cted genes; permitted detection of low-grade constitutional, somatic, and revertant mosaicism; and pr

223 t compounds (5a-6a and 7a-8c) related to the constitutional structure of hamigeran D (1).

224 rovide access to divergent stereoisomers and constitutional structures.

225 t of titanium-copper alloys that have a high constitutional supercooling capacity as a result of part

226 However, because of thermal or constitutional supercooling, resulting droplets often on

227 e additional evidence for the association of constitutional susceptibility factors, intense sun expos

228 e genomic organization of simple and complex constitutional SVs, as well as the molecular mechanisms

229 symptom (2%), allergy/hypersensitivity (2%), constitutional symptom (4%), hand and foot reaction (2%)

230 r, at least one respiratory symptom, and one constitutional symptom of influenza within 48 h of sympt

231 relapsing remitting syndrome of fever (94%), constitutional symptoms (100%), peripheral lymphadenopat

232 (97%), gastrointestinal symptoms (77%), and constitutional symptoms (100%).

233 agnosed between 1996 and 2007 more often had constitutional symptoms (31% v 23%) but a lower incidenc

234 Clinical manifestations of CES include constitutional symptoms (fever, anorexia, weight loss, f

235 headache, jaw claudication, visual loss, and constitutional symptoms (malaise, fever, weight loss, lo

236 Constitutional symptoms and elevated inflammatory marker

237 Complete resolution of constitutional symptoms and improved performance status

238 The JAK inhibitors consistently alleviate constitutional symptoms and reduce spleen size.

239 kinase (JAK)-inhibitor ruxolitinib decreases constitutional symptoms and spleen size of myelofibrosis

240 These inhibitors improve constitutional symptoms and splenomegaly but do not sign

241 er JAK inhibitors exert a salutary effect on constitutional symptoms and splenomegaly but have yet to

242 s have ushered in a new era for treatment of constitutional symptoms and splenomegaly in myelofibrosi

243 disease, profound hematologic compromise, or constitutional symptoms attributable to WM.

244 ralgias (2.0, 1.1-3.6; p=0.020), and various constitutional symptoms controlling for age and sex.

245 There were no notable constitutional symptoms of fever or weight loss.

246 icion is recommended in patients who develop constitutional symptoms or sudden onset chest pain that

247 th pulmonary-only infections (P < .0001) and constitutional symptoms such as fever (P < .0001).

248 unctions, which may explain organ damage and constitutional symptoms that is not accounted for otherw

249 nted with respiratory, gastrointestinal, and constitutional symptoms that rapidly progressed to sever

250 ions from asymptomatic or mild, self-limited constitutional symptoms to a hyperinflammatory state ("c

251 53 (88%) of 60 patients presented with constitutional symptoms, 59 (98%) with respiratory sympt

252 ts >/= 2%, bone marrow fibrosis grade >/= 2, constitutional symptoms, absence of CALR type-1 mutation

253 her incidence of grade 3/4 myelosuppression, constitutional symptoms, and GI and dermatologic toxicit

254 erized by anemia, splenomegaly, debilitating constitutional symptoms, and shortened survival.

255 such as hydroxyurea for the splenomegaly and constitutional symptoms, and splenectomy or radiotherapy

256 tions (eg, massive splenomegaly, cytopenias, constitutional symptoms, and transformation to a treatme

257 SCS patients had constitutional symptoms, cerebrospinal fluid (CSF) pleoc

258 patients with pneumonitis, and one each with constitutional symptoms, colitis, adrenal insufficiency,

259 categorization, which includes patient age, constitutional symptoms, hemoglobin, leukocyte count, an

260 Patients commonly present with constitutional symptoms, hepatic and liver enlargement,

261 but no evidence of end-organ damage (anemia, constitutional symptoms, hyperviscosity, lymphadenopathy

262 ly decreased splenomegaly and improvement in constitutional symptoms, in myelofibrosis patients.

263 associated with splenomegaly and MF-related constitutional symptoms, it is neither curative nor effe

264 s presumed to contribute to organ damage and constitutional symptoms, little is known about the invol

265 ardized uptake value (SUVmax), more frequent constitutional symptoms, poorer performance status (PS),

266 Shared clinical features include fever, constitutional symptoms, prompt response to systemic cor

267 odest and progressive cardiotoxicity without constitutional symptoms, reminiscent of the effects seen

268 ibrosis (MF) is characterized by cytopenias, constitutional symptoms, splenomegaly, and marrow histop

269 st available therapy for MF splenomegaly and constitutional symptoms.

270 erse events were rash, myelosuppression, and constitutional symptoms.

271 The highest dose level induced unacceptable constitutional symptoms.

272 cy associated with anemia, splenomegaly, and constitutional symptoms.

273 matopoiesis, ineffective erythropoiesis, and constitutional symptoms.

274 25 x 10(9)/L, circulating blasts >/= 1%, and constitutional symptoms.

275 y adaptive immunological changes, as well as constitutional symptoms.

276 only mild and transient local reactions and constitutional symptoms.

277 nation of respiratory, gastrointestinal, and constitutional symptoms.

278 s painless and not associated with any other constitutional symptoms.

279 ype associations included increased IL-8 and constitutional symptoms; IL-2R, IL-12, and transfusion n

280 s an important role in the generation of the constitutional t(11;22) rearrangement.

281 Constitutional thinness (CT) is a state of low but stabl

282 fatigue (six), anaemia (four), pain (four), constitutional (three), and cardiac events (two).

283 -model) to shortlist 24 descriptors covering constitutional, topological, geometrical and physicochem

284 eatures selected from a pool containing 1497 constitutional, topological, geometrical or electronic m

285 Constitutional translocations at the same 22q11.21 low c

286 We demonstrate that NAHR mediates recurrent constitutional translocations t(4;11) and t(8;12) and po

287 Constitutional triploidy was associated with an increase

288 kemia and myeloid neoplasms of patients with constitutional trisomy 21.

289 Here we evaluate the fitness of cells with constitutional trisomy or chromosomal instability (CIN)

290 that used less precise methods, we find that constitutional trisomy, even for large chromosomes that

291 We identified constitutional truncating mutations of the BRCA1-interac

292 ntages including topological designation and constitutional tunability.

293 e microscale, and demonstrate suppression of constitutional undercooling at high solidification veloc

294 riance, and environmental and demographic or constitutional variables contributed 38% and 10%, respec

295 whom on the basis of the imaging studies the constitutional variant of ischiofemoral impingement was

296 pply a standardized classification scheme to constitutional variants in the Lynch syndrome-associated

297 may be transmitted to the next generation as constitutional variants.

298 Analysis of constitutional variation identified three susceptibility

299 or the adaptation to different metal ions by constitutional variation.

300 ferent developmental pathways to CU (genetic/constitutional vs environmental), and that the absence o