ライフサイエンスコーパス: monoallelic

1 d 18 truncating sequence variants), 63 being monoallelic.

2 ning GNG12-AS1 transcripts are predominantly monoallelic.

3 urvival was similar to that in patients with monoallelic (6.7 months) or biallelic (3.4 months) TP53

4 ons were detected in 62% of probands (n = 55 monoallelic; 6 biallelic).

5 identified in unaffected family members with monoallelic ADA2 mutations.

6 ocations within developmental stages wherein monoallelic Ag receptor locus recombination is enforced.

7 Importantly, we analyzed monoallelic AID deamination footprints on both DNA stran

8 More interestingly, we also identified monoallelic ALDH18A1 mutations segregating in three inde

9 Placentas retained monoallelic allele-specific gene expression of IGF2, but

10 lly expressed genes remained similar between monoallelic and biallelic clones.

11 the CTCF target site appears to distinguish monoallelic and biallelic expression states.

12 Both monoallelic and biallelic oncogenic NRAS mutations are i

13 dited isogenic stem cell lines with intended monoallelic and biallelic sequence changes in approximat

14 llele from its cognate enhancers, leading to monoallelic and haploinsufficient TFAP2A expression in p

15 s harbor 2 JAK3 mutations, some of which are monoallelic and others that are biallelic.

16 Genomic imprinting, the monoallelic and parent-of-origin-dependent expression of

17 oregulated imprinted genes, H19 and Igf2, is monoallelic and parent-of-origin-dependent.

18 Monoallelic as well as heterozygous and homozygous biall

19 f antigen-receptor loci have linked directed monoallelic association with pericentromeric heterochrom

20 ses of T-ALL diagnostic specimens, revealing monoallelic BCL11B deletions or missense mutations in 9%

21 he promoter, our data strongly indicate that monoallelic BES transcription is activated by a mechanis

22 Plants that were monoallelic, biallelic and chimeric for mutations at the

23 nous retrovirus (ERV) targets, the rest show monoallelic binding based either on parental origin or o

24 he neonatal brain, and that cause mosaics of monoallelic brain cells that differentially express wild

25 in ten individuals with inherited or de novo monoallelic BRPF1 mutations.

26 Additionally, mice carrying monoallelic BubR1 mutations were prone to select MVA-rel

27 associated genes, and 9% of individuals were monoallelic carriers of a rare LP or P mutation in 39 ge

28 Analysis of monoallelic CCR2 knockout lines shows that the reduced l

29 istinct CD177 neutrophil subsets and a novel monoallelic CD177 expression pattern that does not follo

30 Haplotype analysis indicated a unique monoallelic CD177 expression pattern, where the offsprin

31 ChIP and reporter assays in HeLa cells with monoallelic CD177 expression showed that methylation red

32 ions were found in 38 CN-AML patients with a monoallelic CEBPA mutation and in 89 CN-AML patients wit

33 of DNA methylation reduced the proportion of monoallelic cells.

34 eral ESs simultaneously, indicating that the monoallelic control is not determined only at transcript

35 We generated HEK 293 cells with either monoallelic CRM1WT/E571K or biallelic CRM1E571K/E571K us

36 sing T cells produce more CXCR3 protein than monoallelic CXCR3-expressing cells, and biallelic CXCR3-

37 KCLs that is inactivated by a combination of monoallelic deletion and promoter CpG island hypermethyl

38 es on human chromosome 17p13.1, a hotspot of monoallelic deletion in human cancers.

39 Cytogenetic studies identified a monoallelic deletion of 17p13 (TP53) in both the cell li

40 Rats with a monoallelic deletion of 71 bp in exon 1 (Delta 71 rats)

41 We found that the monoallelic deletion of CREB binding protein (CBP) resul

42 We observed monoallelic deletion of PRDM1 loci in 8 of 18 (44%) NKCL

43 drome, a macrocytic anemia caused by a large monoallelic deletion, which we found to also encompass t

44 Monoallelic deletions of 20p12 are variably associated w

45 FLASH monoallelic deletions were observed in 18% of patients;

46 sing a mouse hybrid F1 system, we found that monoallelic DNA accessibility across autosomes was perva

47 epigenetic regulation of imprinted genes by monoallelic DNA methylation of either maternal or patern

48 e trait loci that are imprinted (iQTL) exert monoallelic effects, depending on the parent of origin,

49 st known imprinted regions and new loci with monoallelic epigenetic marks and monoallelic expression.

50 idence for a stochastic or random process of monoallelic epigenetic silencing of the tumor suppressor

51 Monoallelic exclusion ensures that the African trypanoso

52 resser T. brucei lines, which have disrupted monoallelic exclusion, and simultaneously express 2 ESs

53 Although monoallelic expression (MAE) is a frequent genomic event

54 mouse autosomal genes are subject to random monoallelic expression (MAE), an epigenetic mechanism ch

55 omal genes are subject to mitotically stable monoallelic expression (MAE), including genes that play

56 consequences of this epigenetic phenomenon, monoallelic expression (MAE).

57 mber of human autosomal genes are subject to monoallelic expression (MAE).

58 The recent descriptions of widespread random monoallelic expression (RMAE) of genes distributed throu

59 versity of autosomal genes subject to random monoallelic expression (RMAE), which provides compelling

60 quencing was used to evaluate deviation from monoallelic expression among 47 placentas heterozygous f

61 te here that rhesus monkey ESCs also display monoallelic expression and methylation of X-linked genes

62 c variation in African trypanosomes involves monoallelic expression and reversible silencing of varia

63 ression should be for it to be designated as monoallelic expression and, further, what methods are ap

64 ication timing that include known regions of monoallelic expression as well as many previously unchar

65 Imprinted genes, which exhibit monoallelic expression based on parent of origin, are hi

66 Random monoallelic expression can lead to phenotypic variation

67 tion, suggesting that drugs that disrupt VSG monoallelic expression could be used to treat trypanosom

68 Random monoallelic expression defines an unusual class of genes

69 We assessed the dynamics of monoallelic expression during development through an all

70 Recently, data on 'random' autosomal monoallelic expression has become available for the enti

71 Although random monoallelic expression has been known for decades to aff

72 e pipeline can be used by researchers to map monoallelic expression in a variety of cell types using

73 CDKN1C showed monoallelic expression in both adult and fetal tissue, w

74 of autosomal orthologs demonstrating random monoallelic expression in both organisms was greater tha

75 identification of parental biases alongside monoallelic expression in brain tissues, discuss their p

76 g were observed for KCNQ1 and KCNQ1OT1, with monoallelic expression in fetal tissues and biallelic ex

77 , we report a genome-wide analysis of random monoallelic expression in the mouse.

78 hose interested in investigating the role of monoallelic expression in their specific genes and tissu

79 The database of autosomal monoallelic expression incorporates data from multiple r

80 ost exciting recent development in mammalian monoallelic expression is a clever and carefully execute

81 Although this monoallelic expression is controlled at the transcriptio

82 generally applicable to other systems where monoallelic expression is desired, and provide guideline

83 The means by which monoallelic expression is established are only beginning

84 tal chromosome affect tumorigenesis if their monoallelic expression is lost or duplicated.

85 different studies, demonstrated that random monoallelic expression is surprisingly widespread among

86 eles in this model, other means of enforcing monoallelic expression may be more plausible evolutionar

87 Monoallelic expression not due to cis-regulatory sequenc

88 hese results support a model in which random monoallelic expression occurs stochastically during diff

89 Our analysis allowed us to determine the monoallelic expression of 20 genes in tissues of control

90 mRNA was isolated from blood leukocytes, and monoallelic expression of a mutated allele was demonstra

91 The monoallelic expression of antigen receptor (AgR) genes,

92 ghts into the rather prevalent phenomenon of monoallelic expression of autosomal genes as well as int

93 Monoallelic expression of BF Expression Site (BES)-linke

94 We uncovered that monoallelic expression of CDK1(AF) is early embryonic le

95 chromatin remodelling of the locus-perturbed monoallelic expression of DLGAP4 mRNAs and non-coding RN

96 overexpression of the MECOM isoform EVI1 and monoallelic expression of GATA2 from the unaffected alle

97 Genomic imprinting results in the monoallelic expression of genes that encode important re

98 Taking advantage of the monoallelic expression of GFAP, we show that the functio

99 The monoallelic expression of imprinted genes at these three

100 y methylated regions (DMRs) that control the monoallelic expression of imprinted genes involved in me

101 n irreversible promoter silencing, as in the monoallelic expression of imprinted genes, in the silenc

102 Monoallelic expression of imprinted genes, including one

103 and its methylation is often associated with monoallelic expression of neighboring genes.

104 African trypanosomes show monoallelic expression of one of about 20 telomeric vari

105 The monogenic and monoallelic expression of only one out of >1000 mouse ol

106 date the mechanisms underlying monogenic and monoallelic expression of OR genes.

107 c mechanism that results in parent-of-origin monoallelic expression of specific genes, which preclude

108 ucleotide polymorphisms, we demonstrate that monoallelic expression of the abundantly expressed OR ge

109 First, monoallelic expression of the antigenically varied VSG i

110 other class of tumors exhibits highly biased monoallelic expression of the mutant Apc allele, providi

111 It is unclear how monoallelic expression of VSG is controlled, and how ina

112 is unique subnuclear body in restricting the monoallelic expression of VSG.

113 esults suggest a common mechanism for random monoallelic expression on autosomes and the X chromosome

114 erhaps more genes that are subject to random monoallelic expression on mammalian autosomes than there

115 Random monoallelic expression on the mouse autosomes is broadly

116 attern that does not follow classical random monoallelic expression or imprinting.

117 examined (H7, H9, and HSF6 cells) exhibit a monoallelic expression pattern for a majority of X-linke

118 Monoallelic expression poses an intriguing problem in ep

119 Unexpectedly widespread monoallelic expression suggests a mechanism that generat

120 on a few recent developments in the field of monoallelic expression that are of particular interest a

121 at this locus, as well as other instances of monoallelic expression throughout the genome.

122 crete genetic elements that confer imprinted monoallelic expression to several genes in imprinted gen

123 These data suggest that autosomal random monoallelic expression was present at least as far back

124 it is important to take into account random monoallelic expression when examining genotype-phenotype

125 Monoallelic expression with random choice between the ma

126 Monoallelic expression within a gene family is found in

127 silent VSG expression sites, to disrupt VSG monoallelic expression, and to generate viable and healt

128 the mechanisms underlying this monogenic and monoallelic expression, we examined the 3D nuclear organ

129 between closely related species to maintain monoallelic expression.

130 n can cause a dramatic epigenetic switch and monoallelic expression.

131 ession, X chromosome inactivation and random monoallelic expression.

132 eview will consider different known types of monoallelic expression.

133 olved in the establishment or maintenance of monoallelic expression.

134 nt pairing but that this is not dependent on monoallelic expression.

135 , and greater than 10% of them showed random monoallelic expression.

136 w loci with monoallelic epigenetic marks and monoallelic expression.

137 n imprinted gene, leading to perturbation of monoallelic expression.

138 ide link between antisense transcription and monoallelic expression.

139 nic stem (ES) cells, before establishment of monoallelic expression.

140 ena as possible key regulatory mechanisms of monoallelic expression.

141 nd that more than 300 were subject to random monoallelic expression.

142 erging themes are thought to be critical for monoallelic expression: (1) noncoding, often antisense,

143 genes exhibit parentally biased--rather than monoallelic--expression, with different magnitudes accor

144 rface glycoprotein (VSG) genes in a strictly monoallelic fashion in its mammalian hosts, but it is un

145 family and are expressed in a monogenic and monoallelic fashion in olfactory neurons.

146 Each parasite expresses VSGs in a monoallelic fashion that is tightly regulated.

147 otein (VSG) gene expression sites (ESs) in a monoallelic fashion using RNA polymerase I (Pol I).

148 lling evidence against previously postulated monoallelic Gata3 expression in early T lineage and hema

149 nia and leukemia, and the second, carrying a monoallelic gene deletion inducing a haploinsufficiency,

150 evelopments, genomic imprinting emerged as a monoallelic gene dosage regulatory mechanism of tightly

151 is an epigenetic phenomenon that results in monoallelic gene expression according to parental origin

152 Monoallelic gene expression exposes an organism to the r

153 Monoallelic gene expression is a remarkable process in w

154 Monoallelic gene expression is likely generated through

155 Random autosomal monoallelic gene expression refers to the transcription

156 We have discovered a new mechanism of monoallelic gene expression that links antigenic variati

157 f the cell type-specific incidence of random monoallelic gene expression, and how the imbalance in al

158 5% and 15% of autosomal genes exhibit random monoallelic gene expression, in which different cells ex

159 een parental alleles, as these often dictate monoallelic gene expression, resulting in parent of orig

160 mming, resulting in parental origin-specific monoallelic gene expression.

161 a novel mechanism for genetically determined monoallelic gene expression.

162 R family members as a basis of monogenic and monoallelic gene expression.

163 ethylation, causing parental origin-specific monoallelic gene expression.

164 nd allelic exclusion are classic examples of monoallelic gene expression.

165 can lead to spurious findings of dynamic and monoallelic gene expression.

166 imed status, XIST-induced silencing restores monoallelic gene expression.

167 -friendly, open-source software pipeline for monoallelic gene inference from chromatin (MaGIC).

168 Examples of random monoallelic genes include those found on the X-chromosom

169 For a majority of monoallelic genes, we also observed some clonal lines di

170 Instead, monoallelic genetic variants and environmental factors c

171 (8/10), while a compound heterozygous and a monoallelic genotype were identified in the remaining on

172 ir ubiquitous expression, the inheritance of monoallelic germline mutations in breast cancer suscepti

173 We show here that monoallelic, germline inactivation of the ribosomal prot

174 we have generated multiple hiPSC lines with monoallelic green fluorescent protein tags labeling 10 p

175 Here, we characterize 2 novel monoallelic hemophagocytic lymphohistiocytosis (HLH)-ass

176 Furthermore, monoallelic heterochromatin localization is significantl

177 ase of FLT3-ITD negativity, biallelic versus monoallelic/homozygous CEBPA mutations.

178 Disruption of DLGAP4 results in monoallelic hypermethylation of the truncated DLGAP4 pro

179 ease in cancer cells harboring an endogenous monoallelic IDH1 mutation when mitochondrial IDH flux wa

180 Although monoallelic (ie, heterozygous) mutations have been ident

181 tumor nuclei transiently converted to normal monoallelic imprinted expression in the reconstructed di

182 The maintenance of DMDs is important for monoallelic imprinted gene expression and normal develop

183 Although control concepti had monoallelic imprinted gene expression in all tissues, bo

184 a)J(beta) recombination events are generally monoallelic in developing thymocytes because of frequent

185 variant and 75 participants who had 13 other monoallelic inactivating mutations in ANGPTL4.

186 We hypothesized that monoallelic inactivation of the allele retained in tumor

187 ges were modeled by Treg cell-specific Tgfb1 monoallelic inactivation, which induced allergic dysregu

188 etions/mutations found in DLBCLs are largely monoallelic, indicating that FBXO11 is a haplo-insuffici

189 Thus, we describe a new monoallelic inflammasome defect that expands the monogen

190 llelic exclusion is thought to occur through monoallelic initiation and subsequent feedback inhibitio

191 tic steps and molecules that may control the monoallelic initiation and subsequent inhibition of V-to

192 nding at the paternal ICR is associated with monoallelic interaction between two CTCF sites flanking

193 lerance by a complex mechanism that involves monoallelic interchromosomal association, alterations in

194 e in situ hybridization experiments revealed monoallelic interchromosomal colocalization of miR-155 a

195 tal, these results demonstrate biallelic and monoallelic ITPR1 mutations as the underlying genetic de

196 ng isogenic murine embryonic stem cells with monoallelic K700E mutations constructed via CRISPR/Cas9-

197 This supports the emerging concept that monoallelic KLF1 mutations can play a modulatory role in

198 termediate promoter site, with consequential monoallelic LMO2 overexpression.

199 e two homologous alleles of autosomal random monoallelic loci differ from each other in embryonic ste

200 cinoma (ccRCC) is frequently associated with monoallelic loss and/or mutation of autophagy-related ge

201 cetyltransferase TIP60, a frequent target of monoallelic loss in human carcinomas, can acetylate many

202 Here we show that monoallelic loss of ARID1A in the mouse endometrial epit

203 Furthermore, monoallelic loss of Becn2 in mice accelerates the progre

204 eshift (P190Lfs and R319Efs) EKLF mutations, monoallelic loss of EKLF does not result in haploinsuffi

205 hality due to heart defects, while mice with monoallelic loss of function mutations or with tissue-sp

206 shared a genetic signature characterized by monoallelic loss of Nf1 and the adjacent Trp53 allele.

207 Moreover, monoallelic loss of Rpl22 accelerates development of thy

208 ), H3K36me3 is not significantly impacted by monoallelic loss of SETD2.

209 Monoallelic loss of the essential autophagy gene beclin1

210 We provided evidence that monoallelic loss-of-function variants in MYOCD caused co

211 at hypermethylation was acquired in APL in a monoallelic manner.

212 the Variant Surface Glycoprotein (VSG), in a monoallelic manner.

213 with placental-specific imprinting, and this monoallelic methylation was entirely maternal in origin.

214 s of approximately 30% extensively skewed or monoallelic methylation, in agreement with likely age-re

215 e hyperinsulism, we found 17 patients with a monoallelic missense mutation of SUR1.

216 Here we report monoallelic missense mutations affecting lysine 91 in th

217 what is usually seen in individuals carrying monoallelic MITF mutations.

218 d at promoters and may act as gatekeepers of monoallelic mRNA expression.

219 Some monoallelic mutated or PTEN wild-type patients lack PTEN

220 ly to Lynch syndrome, but the penetrance for monoallelic mutation carriers appears to be lower than t

221 modestly increased risks of adult cancers in monoallelic mutation carriers.

222 infection, autoimmunity, or cancer, carry a monoallelic mutation in one or more HLH-associated genes

223 i-Fraumeni syndrome patients, we show that a monoallelic mutation of p53 was sufficient to activate t

224 There is no evidence than monoallelic mutation status per se is clinically importa

225 Monoallelic mutation was not associated with an increase

226 ants in PLCD1 in such families and propose a monoallelic mutational mechanism that drives cyst format

227 4.6%-11.3%) and 5.6% for female carriers of monoallelic mutations (95% CI, 3.6%-8.8%), irrespective

228 70 years of age of 7.2% for male carriers of monoallelic mutations (95% confidence interval [CI], 4.6

229 7 patients screened, 32 (17%) harbored SRSF2 monoallelic mutations affecting residue P95.

230 Evidence that monoallelic mutations also confer an elevated CRC risk i

231 We found that the accumulation of monoallelic mutations did indeed increase the risk of de

232 In some FA genes, monoallelic mutations have been found to be associated w

233 sequencing of TGFBR1 identified 11 distinct monoallelic mutations in 18 affected families, firmly es

234 We studied 2332 individuals with monoallelic mutations in MUTYH among 9504 relatives of 2

235 Risks of CRC for carriers of monoallelic mutations in MUTYH with a first-degree relat

236 classified as having "sporadic" HLH, 43 had monoallelic mutations in one of the FHL-defining genes.

237 Monoallelic mutations in PDZD7 increase the severity of

238 Monoallelic mutations in the gene encoding bone morphoge

239 Previous methods generate monoallelic mutations in the germ line of F0 animals, us

240 Monoallelic mutations in these genes are associated with

241 uppressor cause Fanconi anemia subtype FA-N, monoallelic mutations predispose to breast and familial

242 One-third of TP53-mutated patients had monoallelic mutations whereas two-thirds had multiple hi

243 lic inheritance, identification of dominant (monoallelic) mutations for Mendelian disorders is more d

244 For monoallelic MUTYH mutation carriers with a first-degree

245 ce CRC genes (3, APC c.3920T>A, p.I1307K; 7, monoallelic MUTYH).

246 erate-penetrance CRC risk gene mutations (19 monoallelic MUTYH, 17 APC*I1307K, two CHEK2).

247 utional MLH1 methylation]; 16, MSH2; 1, MSH2/monoallelic MUTYH; 2, MSH6; 5, PMS2); 1 patient had the

248 perglycemia with streptozotocin in mice with monoallelic Nampt deletion from rod photoreceptors, mice

249 ylation at meiotic genes and also at certain monoallelic neural genes (e.g., protocadherins and olfac

250 derwent neuronal differentiation, the mutant monoallelic or biallelelic RTT-iPSCs displayed a defect

251 tional unmutated nonsplenic MZLs also showed monoallelic or biallelic A20 deletions by fluorescent in

252 dividuals with myeloid disorders revealed 49 monoallelic or biallelic EZH2 mutations in 42 individual

253 s from 47 children with T-ALL and identified monoallelic or biallelic LEF1 microdeletions in 11% (5 o

254 considerably better outcome than those with monoallelic or biallelic methylation (n = 101, P = .001)

255 , previous classification of lines as having monoallelic or biallelic TERT expression was found to be

256 While monogenic and monoallelic OR expression has been appreciated for over

257 This model not only recapitulates monoallelic OR expression, but also elucidates how the o

258 cess of OR choice to allow for monogenic and monoallelic OR expression.

259 ism and one of five RTT brain samples showed monoallelic or highly skewed allelic expression of one o

260 The monoallelic parent of origin-specific expression of impr

261 Genomic imprinting refers to the pattern of monoallelic parent-of-origin-dependent gene expression w

262 n mammals, such that they are expressed in a monoallelic, parent-of-origin-specific manner.

263 Imprinted genes are expressed in a monoallelic, parent-of-origin-specific manner.

264 tinguishes parental alleles and results in a monoallelic, parental-specific expression pattern in mam

265 g-ranged dispersal leaves behind a mosaic of monoallelic patches, whose number and size are highly se

266 Monoallelic pathogenic variants or variants of unknown s

267 Surprisingly, monoallelic patients did not differ from TP53 wild-type

268 Among families with monoallelic PMS2 mutations, 65.5% met revised Bethesda g

269 Monoallelic point mutations in cytosolic isocitrate dehy

270 Monoallelic point mutations of the NADP(+)-dependent iso

271 nts in the essential gene BRCA2/FANCD1, when monoallelic, predispose to breast and ovarian cancer, an

272 human glioma, most often in association with monoallelic PTEN loss.

273 halopathy, hypotonia, and seizures in whom a monoallelic reciprocal duplication at the ATAD3 locus wa

274 ntaneously reverted to a wild-type allele by monoallelic recombination at the duplicated aluY repeat,

275 However, it is not known whether monoallelic recruitment during establishment of allelic

276 the establishment of IgH allelic exclusion, monoallelic recruitment to heterochromatin does not sile

277 TMPRSS2 transcription is subjected to tight monoallelic regulation, which is retained upon asymmetri

278 correlated with modified ERalpha binding and monoallelic-repression of IGFBP5 following oestrogen tre

279 Monoallelic RUNX1 mutations cause familial platelet diso

280 ferences in methylation status of CpG sites, monoallelic silencing, and other epigenetic regulatory m

281 or-suppressor genes, WTX is inactivated by a monoallelic "single-hit" event targeting the single X ch

282 We show that CRISPR/Cas9-introduced bi- and monoallelic SNORA31 deletions render human pluripotent s

283 VSG expression is monoallelic such that only one of approximately 15 telom

284 period most of the animals with wild-type or monoallelic survivin deletion developed adenocarcinomas,

285 Sequencing reveals that >20% of monoallelic TAL1(+) patients without previously known al

286 We show that the monoallelic-to-biallelic transcriptional switch is stabl

287 ched H4K16ac levels corresponding to doubled monoallelic transcription in females.

288 1) is differentially methylated and produces monoallelic transcripts, as in other tissues.

289 we report a cranioskeletal phenotype due to monoallelic truncating and frameshift BMP2 variants and

290 We identified monoallelic truncating PALB2 mutations in 10/923 individ

291 of X-X pairs and perturbs the transition to monoallelic Tsix expression required for Xist upregulati

292 A monoallelic variant of uncertain significance affecting

293 EMC1 as a gene in which either biallelic or monoallelic variants might lead to a syndrome including

294 ovo in 44.7% (17 of 38) of patients with two monoallelic variants.

295 ted genes with paternal allele silencing are monoallelic versus 56% with paternal allele expression-t

296 ressed by separate lymphocyte populations by monoallelic VLRA or VLRB assembly, together with express

297 Monoallelic VSG transcription resumes after reexpression

298 dosage imbalance within cells that is due to monoallelic X-linked expression and biallelic autosomal

299 1A to one Tsix allele is sufficient to drive monoallelic Xist expression.

300 However, these and successor studies of monoallelic Y chromosomal and mitochondrial genetic mark