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 chanism for the generation of such recurring constitutional 22q11.2 translocations.

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

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

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

12 Constitutional abnormalities at the imprinted 11p15 grow

13 Constitutional abnormalities of chromosome 11p15 occurre

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

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

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

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

18 nomatosis probands identified one additional constitutional alteration.

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

20 Constitutional and acquired disease is poorly delineated

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

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

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

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

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 Hypothyroidism can present with nonspecific constitutional and neuropsychiatric complaints, or with

30 Importantly, constitutional and sporadic activating mutations in Met

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

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 aplastic anaemia, three of 27 patients with constitutional aplastic anaemia, but in none of 214 norm

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

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

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

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

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

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

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

46 Consideration of the constitutional chemical relationships between glycolalde

47 Several constitutional chromosomal rearrangements occur on human

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

49 racterized the breakpoint regions at a novel constitutional chromosome translocation (t(1;7)(q42;p15)

50 ally isolated through its involvement with a constitutional chromosome translocation in a patient wit

51 CNVs and the subset of larger nonhomologous constitutional CNVs.

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

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

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

55 bicyclic architectures with a high level of constitutional control.

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

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

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

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

60 tations in the ADAMTS13 gene, resulting in a constitutional deficiency.

61 nts all fit the known phenotypic spectrum of constitutional deletion of chromosome 11p13.

62 Patients who carry constitutional deletions of 17q21.3-q24 exhibit distinct

63 Two neuroblastoma patients had constitutional deletions of distal 1p36 that overlapped

64 A constitutional democracy must balance the common good wi

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

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

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

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

69 ts associated with several relatively common constitutional disorders.

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

71 We assessed constitutional DNA for nine common polymorphisms in mela

72 Constitutional DNA of each subject was genotyped using t

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

74 Family cancer histories and constitutional DNA samples were obtained from 44 HD pati

75 % of them, and was the only recurrent CNV in constitutional DNA samples.

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

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

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

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

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

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

82 Constitutional dynamic libraries (CDLs) of hydrazones, a

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

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

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

86 Constitutional dynamic networks (CDNs), composed of exch

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

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

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

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

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

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

93 Constitutional epigenetic alterations associated with BW

94 Newly identified constitutional epigenetic defects in Wilms tumor genes e

95 ldren with IH and Wilms tumor have different constitutional epigenotypes from those of children with

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

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

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

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

100 ith the Knudson model in that a reduction of constitutional expression of p53 may be sufficient for t

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

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

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

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

105 first demonstration, to our knowledge, of a constitutional genetic polymorphism affecting tumor meta

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

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

108 To identify constitutional genetic variations contributing to ovaria

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

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

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

112 Constitutional genomic DNA from subjects with known inhe

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

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

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

116 , the results indicated that an individual's constitutional genotype at the EPHX1 locus may be a crit

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

118 Constitutional (germline) mutations in any of three gene

119 but all 10 deletions reflected unmasking of constitutional hemizygous deletions.

120 Constitutional hypermethylation of 1 allele throughout t

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

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

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

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

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

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

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

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

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

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

131 adopt a pleated fold in solution, while its constitutional isomer, Dan-Dan-Ndi, adopted an intercala

132 s correctly predict the observed N-lithiated constitutional isomer.

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

134 of three libraries, one of 3,4,5- and two of constitutional isomeric 3,4- and 3,5-substituted 3-pheny

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

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

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

138 A constitutional isomeric library synthesized by a modular

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

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

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

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

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

144 lpha-DABA) turn moiety are compared to their constitutional isomers containing the well-characterized

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

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

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

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

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

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

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

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

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

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

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

156 rrangement that leads to interconversions of constitutional isomers.

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

158 include the characterization of structural (constitutional) isomers.

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

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

161 droplet protein, perilipin, in mice leads to constitutional lipolysis associated with marked reductio

162 he metabolic adaptations associated with the constitutional lipolysis in plin(-/-) mice that allowed

163 ecades, consistent with the possibility that constitutional LOI at this locus is due largely to genet

164 The constitutional MdnCNV phenomenon resembles chromosomal i

165 chronic thrombocytopenia caused by distinct constitutional microdeletions involving chromosomal regi

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

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

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

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

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

171 o describe a FPAH patient carrying biallelic constitutional missense mutations of BMPR2 who manifeste

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

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

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

175 Constitutional mosaic aneuploidies, microcephaly, develo

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

177 ardation, microcephaly, childhood cancer and constitutional mosaicism for chromosomal gains and losse

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

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

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

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

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

183 Constitutional neutropenia, which is common among blacks

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

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

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

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

188 The OCA phenotype is dependent on the constitutional pigmentation background of the family, wi

189 A pigmentation found in families with darker constitutional pigmentation, which indicates that other

190 Constitutional polymorphisms at DMBT1 repeat 2-9/2-10 ap

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

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

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

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

195 This represents the first report of a constitutional rearrangement affecting HMGA2 and demonst

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

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

198 nnate and acquired immunity to weaknesses in constitutional resistance.

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

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

201 We further extract constitutional scaling relationships between the pulsati

202 r cycloadditions have been extended in their constitutional scope.

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

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

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

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

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

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

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

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

211 rovide access to divergent stereoisomers and constitutional structures.

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

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

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

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

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

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

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

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

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

221 Constitutional symptoms and elevated inflammatory marker

222 Complete resolution of constitutional symptoms and improved performance status

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

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

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

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

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

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

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

230 thrombocytopenia, symptomatic splenomegaly, constitutional symptoms due to hairy cell leukemia, or r

231 nemia, marked hepatosplenomegaly, and severe constitutional symptoms including cachexia.

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

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

234 taplasia (MMM) often experience debilitating constitutional symptoms such as drenching night sweats,

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

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

237 enced progressive fatigue, nausea, and other constitutional symptoms that prevented repeated dosing.

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

239 ents, 12 (60%) experienced an improvement in constitutional symptoms, and 4 (20%) had an objective re

240 rer median overall survival, the presence of constitutional symptoms, and elevated values of lactic d

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

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

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

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

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

246 The HDI regimen is associated with acute constitutional symptoms, chronic fatigue, myelosuppressi

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

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

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

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

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

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

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

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

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

256 clinical and pathologic features, including constitutional symptoms, tumor necrosis, and advanced tu

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

258 The highest dose level induced unacceptable constitutional symptoms.

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

260 matopoiesis, ineffective erythropoiesis, and constitutional symptoms.

261 25 x 10(9)/L, circulating blasts >/= 1%, and constitutional symptoms.

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

263 only mild and transient local reactions and constitutional symptoms.

264 n gamma-1b was associated with more frequent constitutional symptoms.

265 of administration is limited by progressive constitutional symptoms.

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

267 st available therapy for MF splenomegaly and constitutional symptoms.

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

269 urrent translocations of 22q11 including the constitutional t(11;22) and t(17;22).

270 ave demonstrated that the breakpoints of the constitutional t(11;22) are located at palindromic AT-ri

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

272 st common human chromosomal aberrations, the constitutional t(11;22)(q23;q11) is the only known recur

273 low-copy repeat where the breakpoints of the constitutional t(11;22)s reside, implying a similar pali

274 1 (NF1) had previously been found to have a constitutional t(17;22) disrupting the NF1 gene on 17q11

275 f an additional NF1-afflicted patient with a constitutional t(17;22) is also located close to the cen

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

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

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

279 The recurrent balanced constitutional translocation t(11;22)(q23;q11) breakpoin

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

281 Further analysis suggests that constitutional translocations in general occur between s

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

283 Two known recurrent constitutional translocations, t(11;22) and t(17;22), as

284 Except for these constitutional translocations, the molecular basis for n

285 Constitutional triploidy was associated with an increase

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

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

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

289 We identified constitutional truncating mutations of the BRCA1-interac

290 ia in adults is usually acquired, but rarely constitutional types of bone marrow failure can occur la

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

292 , and behavioral self-regulation and suggest constitutional underpinnings and social factors that sha

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

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

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

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

297 Analysis of constitutional variation identified three susceptibility

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

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

300 enetic and prenatal factors can give rise to constitutional vulnerability.