ライフサイエンスコーパス: UPD

1 UPD currently contains information on 44 individual prot

2 UPD involving chromosomes frequently affected by deletio

3 UPD is thought to result mostly from pre- or post-zygoti

4 UPD was also identified in an XX/XY chimeric individual,

5 ching a coulomb limiting coverage close to 1 UPD monolayer of H(ads).

6 At diagnosis, 15 aberrations (CNAs, n = 10; UPDs, n = 5) were identified in 13 patients (25%), where

7 lapse, 56 genomic alterations (CNAs, n = 46; UPDs, n = 10) were detected in 29 patients (55%) indicat

8 aternal uniparental disomy for chromosome 7 [UPD(7)mat] explain 20-60% and 10% of the syndrome, respe

9 ts were identified in the 86 genomes; 6 of 8 UPD calls occurred in samples with a normal karyotype.

10 t curing by coexpression of low amounts of a UPD-green fluorescent protein fusion protein.

11 This is the first time a UPD has been described in a patient with schizophrenia,

12 P3A suicidal inactivation (which accelerates UPD), and/or proteasomal inhibition, and were confirmed

13 ecifically, chloride ions adsorb onto the Ag UPD adlayer and effect changes in the electrochemical de

14 exhibit a primary stripping peak for the Ag UPD adlayer at 550 mV vs Ag(+/0), and chloride adsorptio

15 clic voltammograms (CVs) of the native Au/Ag(UPD) electrode in 0.1 M H(2)SO(4)(aq) exhibit a primary

16 +/0), and chloride adsorption onto the Au/Ag(UPD) surface effects a peak shift to approximately 600 m

17 alterations and insights into aneuploidy and UPD mechanisms.

18 totic and meiotic origins for aneuploidy and UPD supports existence of selective factors against full

19 nce for the meiotic origin of aneuploidy and UPD was seen in the patterns of recombination visible du

20 assic 2-threshold approach, in which BPD and UPD occupy the same continuum of liability but differ in

21 nalyzed a cohort of 52 children with BWS and UPD using a panel of microsatellite markers for chromoso

22 ine phosphoribosyltransferase deficiency and UPD.

23 hat its autophagic lysosomal degradation and UPD pathways are evolutionarily conserved, even though i

24 ich aberrant methylation of H19 and LIT1 and UPD are strongly associated with cancer risk and specifi

25 od, both the electroreduction of nitrate and UPD of lead monolayer on copper single (111) and polycry

26 nt; (ii) co-occurrence of mosaic trisomy and UPD and (iii) potential recurrence risks.

27 Because UPD leads to reduction to homozygosity at multiple reces

28 A reduced hepatic bilirubin UPD- glucuronosyltransferase (UGT) is associated with th

29 red cells transfected with the mom gene bind UPD and activate the HOP/STAT92E signal transduction pat

30 n for alterations in other genes affected by UPD should also be considered in such cases.

31 presenting a reported case of SCID caused by UPD and suggest UPD should be considered in SCID and oth

32 -c in patients with or without corresponding UPD or deletions and correlated mutational status with c

33 red to the Pt(111) facets, and therefore, Cu UPD occurs on the 4-fold hollow sites of Pt(100) first.

34 conjugating E2 enzymes as relevant to CYP2E1 UPD.

35 n addition to the internally generated data, UPD provides links to the National Center for Biotechnol

36 ama at Birmingham (UAB) Proteomics Database (UPD) was created to provide a repository for the storage

37 ubiquitin-dependent proteasomal degradation (UPD) in an endoplasmic reticulum (ER)-associated degrada

38 itin (Ub)-dependent proteasomal degradation (UPD) in an ER-associated degradation (ERAD) process.

39 ubiquitin-dependent proteasomal degradation (UPD).

40 not involve 11q, but 4 patients demonstrated UPD for the whole of chromosome 11.

41 aneously formed under-potentially deposited (UPD) Pb and surface lead hydroxide change the functional

42 d by adsorption of underpotential-deposited (UPD) hydrogen.

43 hloride using an underpotentially deposited (UPD) Ag adlayer on polycrystalline Au substrates as a se

44 that a complete underpotentially deposited (UPD) lead layer inhibits the electroreduction of nitrate

45 determined by Pb underpotential deposition (UPD) and the amount of Au obtained by anodic stripping o

46 ep, namely the Cu underpotential deposition (UPD) followed by galvanic replacement with Pt.

47 e electrochemical underpotential deposition (UPD) of hydrogen on Pt.

48 voltammetry of Cu underpotential deposition (UPD) onto Pt dendrimer-encapsulated nanoparticles (DENs)

49 formed on Ge, via underpotential deposition (UPD).

50 tiological overlap with unipolar depression (UPD).

51 uency of trisomics and uniparental disomics (UPDs) among all litters.

52 alterations (CNAs) and uniparental disomies (UPDs) and performed comprehensive gene mutation screenin

53 rnal deletions, uniparental paternal disomy (UPD).

54 detect acquired somatic uniparental disomy (UPD) and other cryptic defects, even in samples deemed n

55 omic regions of acquired uniparental disomy (UPD) are common in malignancy and frequently harbor muta

56 Mosaic aneuploidy and uniparental disomy (UPD) arise from mitotic or meiotic events.

57 ber of reported cases of uniparental disomy (UPD) associated with an acrocentric rearrangement, carri

58 acquisition of segmental uniparental disomy (UPD) by mitotic recombination has been reported in 15% t

59 GRs can lead to regional uniparental disomy (UPD) due to template switches between homologs versus si

60 t of 57 individuals with uniparental disomy (UPD) for 19 different chromosomes, defining imprinted DM

61 Mice with uniparental disomy (UPD) for Chr.

62 somal regions of somatic uniparental disomy (UPD) in cancer genomes.

63 no published reports of uniparental disomy (UPD) in HS-RDEB; moreover, this case represents only the

64 Uniparental disomy (UPD) is a rare condition in which a diploid offspring ca

65 Acquired somatic uniparental disomy (UPD) is commonly observed in myelodysplastic syndromes (

66 through the compensatory uniparental disomy (UPD) mechanism.

67 Additionally, paternal uniparental disomy (UPD) of 11p15 was associated with hemihypertrophy (P=.00

68 ly 20% of BWS cases have uniparental disomy (UPD) of chromosome 11.

69 s are caused by paternal uniparental disomy (UPD) of chromosome 15 and 2-3% are caused by "imprinting

70 iated with both paternal uniparental disomy (UPD) of chromosome 6 and paternal duplications of the cr

71 alysis revealed maternal uniparental disomy (UPD) of chromosome 6.

72 atients exhibit paternal uniparental disomy (UPD) of chromosome 6q24, where at least two imprinted ge

73 ntified a proband with a uniparental disomy (UPD) of the entire chromosome 1.

74 ther because of maternal uniparental disomy (UPD) of this region or, rarely, from a methylation impri

75 Uniparental disomy (UPD) refers to the presence of two copies of a chromosom

76 kle cell trait to SCD by uniparental disomy (UPD) resulting in mosaicism for SS and AS erythrocytes.

77 A total of 8 uniparental disomy (UPD) segments were identified in the 86 genomes; 6 of 8

78 Uniparental disomy (UPD) was a frequent event, especially affecting chromoso

79 Moreover, segmental uniparental disomy (UPD) was found in 20% of MDS, 23% of sAML, and 35% of MD

80 at disease was caused by uniparental disomy (UPD) with isodisomy of the entire maternal Chr1 bearing

81 ions, such as regions of uniparental disomy (UPD), have been shown to harbor homozygous mutations and

82 some 15q11-q13, paternal uniparental disomy (UPD), imprinting defects or loss-of-function mutations i

83 served in tumor cells is uniparental disomy (UPD), in which a pair of homologous chromosomes are deri

84 Uniparental disomy (UPD), in which an individual contains a pair of homologo

85 f AS cases, no deletion, uniparental disomy (UPD), or methylation abnormality is detectable, and thes

86 eduplication, leading to uniparental disomy (UPD), represented more than half of the loss of heterozy

87 erns were due to partial uniparental disomy (UPD).

88 letions and copy-neutral uniparental disomy (UPD).

89 an Parkin spanning the Unique Parkin domain (UPD, also annotated as RING0) and RBR domains, revealing

90 ession of the N-terminal Ure2p prion domain (UPD) or full-length Ure2p.

91 e TYMV TLS is an upstream pseudoknot domain (UPD) that has been considered to be structurally distinc

92 However, the factors that drive UPD remain unknown.

93 Ectopic expression of either UPD or JAK is sufficient to induce extra epithelial cell

94 ndeed physiologically involved in CYP3A ERAD/UPD in cultured rat hepatocytes.

95 ation differences between meioses exhibiting UPD and normal meioses.

96 However, an accurate risk estimate for UPD associated with these rearrangements is lacking.

97 ions of the existing statistical methods for UPD data.

98 Given the relatively high risk for UPD in prenatally identified Robertsonian translocations

99 disomic cells, confirming increased risk for UPD in the case of meiotic non-disjunction.

100 ent, carriers are presumed to be at risk for UPD.

101 arose meiotically, and three of the five had UPD in the disomic cells, confirming increased risk for

102 109 dizygotic pairs in which the proband had UPD.

103 cluding copy-neutral loss of heterozygosity (UPD, 7%).

104 omes, were studied prospectively to identify UPD for the chromosomes involved in the rearrangements.

105 ns and mitral cells of the olfactory bulb in UPD mice was markedly reduced compared to non-UPD litter

106 was only moderately or not at all reduced in UPD mice.

107 define small genetic abnormalities including UPD, which is usually overlooked by standard methods.

108 esolution for chromosomal defects, including UPD.

109 In most cases (92% of those informative) UPD did not involve 11q, but 4 patients demonstrated UPD

110 accharomyces pombe as a model to investigate UPD, and show that defects in the RNA interference (RNAi

111 ertsonian translocations and isochromosomes, UPD testing should be considered, especially for cases i

112 interstitial paternal uniparental isodisomy (UPD) for chromosome 11p15.1.

113 sity as the result of uniparental isodisomy (UPD) in a patient with KS and a de novo, dominant mutati

114 ic segmental paternal uniparental isodisomy (UPD) of 11pter-11p14 in the proband that encompassed the

115 one patient, paternal uniparental isodisomy (UPD) of chromosome 1 resulted in homozygosity for a prob

116 d delivery to the 26 S proteasome during its UPD/ERAD.

117 odifications or "degrons") contribute to its UPD.

118 Maternal UPD of chromosome 6 unmasked a mutation in the TULP1 gen

119 with one cell line having complete maternal UPD consistent with a parthenogenetic origin.

120 y, in cells lacking RNAi components or Mmi1, UPD is associated with the untimely expression of gameto

121 Further studies revealed mosaic UPD of the beta-globin locus, more SS erythroid progenit

122 tological diffuse forms of CHI due to mosaic UPD in patients with dominantly inherited ABCC8 (or KCNJ

123 tients with chromosome aneuploidy mosaicism, UPD and one individual with XX/XY chimerism to gain insi

124 for novel UBE3A mutations in nondeletion/non-UPD/non-imprinting mutation (NDUI) AS patients and have

125 PD mice was markedly reduced compared to non-UPD littermates.

126 We now report the first two cases of UPD resulting in retinal degeneration.

127 or the systematic and sensitive detection of UPD in hematologic malignancies and other cancers.

128 metaphase cytogenetics, whereas detection of UPD is accomplished by microsatellite and copy number an

129 is case represents only the third example of UPD of chromosome 3 to be reported.

130 f gametogenic genes as a causative factor of UPD, and provide a solid foundation for understanding th

131 elimination factor Mmi1 cause high levels of UPD in vegetative diploid cells.

132 Overexpression of UPD induced type B [URE3] but not type A.

133 t compared with the population prevalence of UPD (1 in 3500), suggesting that most of these events ar

134 ariants, mainly in the isodisomic regions of UPD chromosomes, which, among other variants, provide ta

135 dy was to provide an estimate of the risk of UPD associated with nonhomologous Robertsonian transloca

136 IGF2 and H19 were included in the segment of UPD in all cases.

137 In genetic studies of UPDs, many genetic markers are usually used to identify

138 ble approach to create genetic maps based on UPD data and to inspect recombination differences betwee

139 Of 86 genomes, 43 (50%) had no CNA or UPD at this level of resolution.

140 ctable, and these cases, unlike deletions or UPD, can be familial.

141 ly cryptic chromosomal changes, particularly UPD, in a cohort of 301 patients with myelodysplastic sy

142 patients with TNDM, in whom neither paternal UPD of chromosome 6 nor duplication of 6q24 have been fo

143 Using mice with partial paternal UPD encompassing Ube3a to differentiate maternal and pat

144 resulting from telomeric segmental paternal UPD of chromosome 11, which unmasks a recessively acting

145 A methylation between patients with paternal UPD of chromosome 6 and normal controls.

146 identical to that of patients with paternal UPD of chromosome 6.

147 tion of the mechanisms involved in producing UPD unique to Robertsonian translocations.

148 meric localization of Rec8 and Psc3 promotes UPD by uniquely affecting chromosome segregation, causin

149 LD) and ubiquitin-dependent 26S proteasomal (UPD) degradation pathways.

150 th no evidence of clustering of the proximal UPD breakpoint.

151 sion produces daughter cells with reciprocal UPD for the same pair of chromosomes without an aneuploi

152 oderm- and ectoderm-derived tissues retained UPD of the entire maternal Chr1 in this patient, who had

153 the CEBPA gene coincided with a large-scale UPD on chromosome 19.

154 L samples had evidence of acquired segmental UPD of 13q in a subclone of the relapsed leukemia.

155 One patient acquired segmental UPD of 19q that led to homozygosity for a CEBPA mutation

156 a single patient with AML acquired segmental UPD of chromosome 4q, for which the candidate gene is un

157 and mitotic formation of a mosaic segmental UPD.

158 We conclude that acquisition of segmental UPD and the resulting homozygous mutation is a common ev

159 that mapping minimally overlapping segmental UPD regions can help target the search for both known an

160 Newly acquired segmental UPDs were observed at relapse in 11 AML samples (40%).

161 Six were segmental UPDs of chromosome 13q, which were shown to lead to a ch

162 55 patients and uniparental disomy segments (UPD) in four (0.35%) of 1,155 patients.

163 ertsonian translocations studied, one showed UPD for chromosome 13, providing a risk estimate of 0.6%

164 homologous acrocentric rearrangements showed UPD, providing a risk estimate of 66%.

165 row was available from five patients showing UPD in their leukemias, and in all cases the homozygosit

166 Somatic UPD events are usually explained as reflecting two conse

167 ith SNP-A lesions including acquired somatic UPD exhibited worse overall survival (OS) and event-free

168 Acquired somatic UPD, not detectable by MC, was common in our AML cohort

169 rrations (copy number gain, LOH, and somatic UPDs) during carcinogenesis may be dependent on the germ

170 orted case of SCID caused by UPD and suggest UPD should be considered in SCID and other recessive dis

171 c cohesin Rec8 or the cyclin Crs1 suppresses UPD in both RNAi and mmi1 mutants.

172 Together, our results indicate that UPD for 9p plays a causal role in the PV phenotype in pa

173 We show that UPD is a common chromosomal defect in myeloid malignanci

174 The UPD adopts a novel elongated Zn-binding fold, while RING

175 putative phospho-peptide docking site in the UPD, and explains many PD-causing mutations.

176 The mechanisms of formation of the UPD included trisomy rescue, with and without concomitan

177 r substrate for aminoacylation, and thus the UPD and TLS are functionally and structurally coupled.

178 RING2 forms a hydrophobic interface with the UPD, burying the catalytic Cys431, which is part of a co

179 cause imprinting of Zac1 is relaxed in these UPD mice.

180 The TYMV TLS.UPD might demonstrate how RNA structural plasticity can

181 ination events underlying meioses leading to UPD.

182 postzygotic mitotic recombination leading to UPD.

183 fy the stage of nondisjunction that leads to UPD and to uncover the associated unusual patterns of re

184 rexpression of Rec8 is sufficient to trigger UPD in wild-type cells.

185 s clearly reveal that native CYPs 3A undergo UPD and implicate a role for p97 in this process.

186 The ligand for this pathway, Unpaired (UPD), is expressed by two central cells within the migra

187 in Saccharomyces cerevisiae are degraded via UPD, the turnover of native hepatic CYPs 3A in their phy

188 g that native CYPs 3A were also degraded via UPD.

189 acrocentric chromosomes 14 and 15, in which UPD is associated with adverse clinical outcomes.

190 One patient with UPD outside of q24 (UPD4q28.3) displayed additional TET2

191 or suppressor gene TET2 in MDS patients with UPD on chromosome 4.

192 We report two cases of PWS with UPD in which there was a meiosis I nondisjunction error