ライフサイエンスコーパス: uniparental disomy

1 ed by duplication of the retained homologue (uniparental disomy).

2 ernally derived chromosome 15 or by maternal uniparental disomy.

3 r CBL mutations associated with 11q acquired uniparental disomy.

4 n of the LCK gene (c.1022T>C) resulting from uniparental disomy.

5 omozygous in the leukemia DNA as a result of uniparental disomy.

6 ions in 9 of 12 individuals with 7q acquired uniparental disomy.

7 regulated imprinting at chromosome 11p15 and uniparental disomy.

8 5q11-q13 deletions or chromosome 15 paternal uniparental disomy.

9 We term this process "reciprocal uniparental disomy."

10 fied by phenotype-driven assays in mice with uniparental disomies [1].

11 es identified included H19 DMR epimutations, uniparental disomy 11p15 and H19 DMR imprinting center m

12 olymorphism arrays to JMML patients, somatic uniparental disomy 11q was detected in 4 of 49 patients;

13 rnal alleles by deletion of the region or by uniparental disomy 15 results in Prader-Willi syndrome (

14 34.3%) autosomal recessive (including 5 with uniparental disomy), 65 (12.3%) X-linked, and 1 (0.2%) m

15 growth retardation associated with maternal uniparental disomy 7 in humans.

16 it model is present in most patients with 7q uniparental disomy and a myeloproliferative phenotype, h

17 Uniparental disomy and abnormal DNA methylation were rul

18 eloproliferative neoplasms with 17q acquired uniparental disomy and in 2 of 2 myelofibrosis cases wit

19 nce risks are low when the child has de novo uniparental disomy and may be as high as 50% when the ch

20 nation of chromosome 6 can also give rise to uniparental disomy and neonatal diabetes, a situation si

21 egation of an imprinted region, resulting in uniparental disomy and PWS.

22 ental genes, and revealed mechanisms such as uniparental disomy and unstable trinucleotide repeats th

23 ted genes, since some patients show paternal uniparental disomy, and others show balanced germ-line c

24 uncation mutations, including an instance of uniparental disomy, and whole-gene deletion were identif

25 or Dlk1 and Gtl2 in the pathologies found in uniparental disomy animals, characterized by defects in

26 mozygosity in the form of segmental acquired uniparental disomy (aUPD) has been described in follicul

27 ing chromosome 15q11-13 deletions (class I), uniparental disomy (class II), methylation imprinting ab

28 Uniparental disomy describes the inheritance of a homolo

29 thermore, we provide the first evidence that uniparental disomy due to somatic recombination constitu

30 how that the embryonic defects described for uniparental disomy embryos can be attributed to this one

31 Focal lesions are the consequence of somatic uniparental disomy for a paternally inherited K(ATP) cha

32 Uniparental disomy for certain segments of specific chro

33 Using conceptuses with maternal or paternal uniparental disomy for chromosome 12 (UPD12), we found t

34 We have therefore generated conceptuses with uniparental disomy for chromosome 12, in which both copi

35 esis in normal conceptuses and in those with uniparental disomy for chromosome 12.

36 f JARID2 or EED in association with acquired uniparental disomy for chromosome 6p or 11q, respectivel

37 on chromosome 11p15 (11p15 LOM) and maternal uniparental disomy for chromosome 7 [UPD(7)mat] explain

38 human chromosome 15q11-q13 and with paternal uniparental disomy for this region indicating that defic

39 We have developed a software tool to detect uniparental disomy from child-mother-father genotype dat

40 ith transient neonatal diabetes mellitus and uniparental disomy have had complete paternal isodisomy.

41 portion of the long arm of chromosome 6 and uniparental disomy, implicating overexpression of an imp

42 es confirmed that the 9q LOH was a result of uniparental disomy in 5 of 13 (38%) basal cell carcinoma

43 quired homozygosity in the form of segmental uniparental disomy in approximately 20% of acute myeloid

44 ted genes located within regions of acquired uniparental disomy in FL are identified.

45 deletions and/or inactivating mutations with uniparental disomy in tumor necrosis factor (TNF) recept

46 e has revealed a somatic recombination event-uniparental disomy, leading to a loss of heterozygosity

47 d chromosomal aberrations, including somatic uniparental disomy, may lead to more precise prognostic

48 n human chromosome 14 deletions and maternal uniparental disomy (mUPD) 14 suggest that misexpression

49 nomalies are consistent with those seen with uniparental disomies of the orthologous chromosome 14 re

50 arbored hematopoietic revertant mosaicism by uniparental disomy of 7q, with loss of the mutated allel

51 atient represents the first case of paternal uniparental disomy of chromosome 1 and provides conclusi

52 maternal origin, and a few cases of paternal uniparental disomy of chromosome 15 have been reported.

53 esult of a deletion at 15q11-q13 or paternal uniparental disomy of chromosome 15.

54 d Prader-Willi syndrome patient samples with uniparental disomy of chromosome 15q11-q13 (n = 11) from

55 ofacial abnormalities, with partial paternal uniparental disomy of chromosome 6 involving the distal

56 al implications, since somatic mosaicism for uniparental disomy of chromosome 6 should also be consid

57 e is genetically heterogeneous, but maternal uniparental disomy of chromosome 7 has been demonstrated

58 The first patient had segmental uniparental disomy of chromosome 9, carrying 2 copies of

59 Notable findings in this sample set were uniparental disomy of chromosome arms 11p, 1q, 14q, and

60 This is the first description of uniparental disomy of human chromosome 1.

61 ese with phenotypes associated with paternal uniparental disomy of mouse chromosome 12.

62 n of multiple genetic alterations, including uniparental disomy of oncogenic Nras allele.

63 myelomonocytic leukemia patients harbored 7q uniparental disomy, of which 41% had a homozygous EZH2 m

64 By single nucleotide polymorphism arrays, uniparental disomy on chromosome 5q, 8q, 11p, and 17p wa

65 Using mice carrying uniparental disomies or duplications, microarray screeni

66 which can be due to gene deletions, maternal uniparental disomy or mutations disrupting the imprintin

67 This disease is associated with paternal uniparental disomy or paternal duplication of chromosome

68 consider unusual genetic mechanisms such as uniparental disomy or the possible presence of three ATP

69 out known molecular defects (large deletion, uniparental disomy, or imprinting mutation).

70 Loss-of-function UBE3A mutations, uniparental disomy, or methylation imprint abnormalities

71 ome 15q11-q13, due to hemizygous deletion or uniparental disomy, results in the Prader-Willi syndrome

72 deletions in 142 (12%) of 1,155 patients and uniparental disomy segments (UPD) in four (0.35%) of 1,1

73 ion was significantly lower in patients with uniparental disomy than in patients with biparental inhe

74 of trinucleotide expansions, imprinting and uniparental disomy, unusual characteristics of mitochond

75 m arrays (SNP-A) can detect acquired somatic uniparental disomy (UPD) and other cryptic defects, even

76 Genomic regions of acquired uniparental disomy (UPD) are common in malignancy and fr

77 Mosaic aneuploidy and uniparental disomy (UPD) arise from mitotic or meiotic e

78 s, and the large number of reported cases of uniparental disomy (UPD) associated with an acrocentric

79 At diagnosis, acquisition of segmental uniparental disomy (UPD) by mitotic recombination has be

80 otically generated CGRs can lead to regional uniparental disomy (UPD) due to template switches betwee

81 patterns in a cohort of 57 individuals with uniparental disomy (UPD) for 19 different chromosomes, d

82 Mice with uniparental disomy (UPD) for Chr.

83 so identified chromosomal regions of somatic uniparental disomy (UPD) in cancer genomes.

84 knowledge, there are no published reports of uniparental disomy (UPD) in HS-RDEB; moreover, this case

85 Uniparental disomy (UPD) is a rare condition in which a

86 Acquired somatic uniparental disomy (UPD) is commonly observed in myelody

87 wild-type homologue through the compensatory uniparental disomy (UPD) mechanism.

88 Additionally, paternal uniparental disomy (UPD) of 11p15 was associated with he

89 Approximately 20% of BWS cases have uniparental disomy (UPD) of chromosome 11.

90 mately 2% of AS cases are caused by paternal uniparental disomy (UPD) of chromosome 15 and 2-3% are c

91 n that TNDM is associated with both paternal uniparental disomy (UPD) of chromosome 6 and paternal du

92 quent segregation analysis revealed maternal uniparental disomy (UPD) of chromosome 6.

93 Some TNDM patients exhibit paternal uniparental disomy (UPD) of chromosome 6q24, where at le

94 osome 1, we also identified a proband with a uniparental disomy (UPD) of the entire chromosome 1.

95 ut it also occurs either because of maternal uniparental disomy (UPD) of this region or, rarely, from

96 Uniparental disomy (UPD) refers to the presence of two c

97 ion of inherited sickle cell trait to SCD by uniparental disomy (UPD) resulting in mosaicism for SS a

98 A total of 8 uniparental disomy (UPD) segments were identified in the

99 Uniparental disomy (UPD) was a frequent event, especiall

100 Moreover, segmental uniparental disomy (UPD) was found in 20% of MDS, 23% of

101 Chr1), indicating that disease was caused by uniparental disomy (UPD) with isodisomy of the entire ma

102 chromosomal aberrations, such as regions of uniparental disomy (UPD), have been shown to harbor homo

103 deletions for chromosome 15q11-q13, paternal uniparental disomy (UPD), imprinting defects or loss-of-

104 enetic alteration observed in tumor cells is uniparental disomy (UPD), in which a pair of homologous

105 Uniparental disomy (UPD), in which an individual contain

106 the remaining 25% of AS cases, no deletion, uniparental disomy (UPD), or methylation abnormality is

107 nd chromosome loss/reduplication, leading to uniparental disomy (UPD), represented more than half of

108 ssible in cancer: deletions and copy-neutral uniparental disomy (UPD).

109 rmed that these patterns were due to partial uniparental disomy (UPD).

110 to detect copy number alterations (CNAs) and uniparental disomies (UPDs) and performed comprehensive

111 somal anomalies (duplications, deletions and uniparental disomy) using SNP microarray data from over

112 had two normal cathepsin K alleles, paternal uniparental disomy was suspected.

113 In addition, copy number-neutral LOH, or uniparental disomy, was also prevalent on 1q (8%), 16q (

114 In 7 of 13 cases with uniparental disomy, we identified concurrent homozygous

115 bmicroscopic alterations, including acquired uniparental disomy, were detectable on chromosomes 1, 8,

116 n revealed a causal focal lesion, indicating uniparental disomy with loss of heterozygosity.

117 th telomeres, establishing that the paternal uniparental disomy with partial isodisomy was caused by