ライフサイエンスコーパス: triplication

1 copy of this gene in glaucoma patients (gene triplication).

2 apidly through PCR tests for homozygosis and triplication.

3 ion of the RAP sequence revealed an internal triplication.

4 % for the earlier beta-duplication and gamma-triplication.

5 opies are identical and are part of a tandem triplication.

6 nisms appear to be required for genomic SNCA triplication.

7 than double the normal ATPase rate upon tail triplication.

8 amily described here and who also carry this triplication.

9 nsonism with dementia due to alpha-synuclein triplication.

10 ll lines carrying 15q11- q13 duplications or triplications.

11 e present evidence for the existence of a D" triplication (a putative phase change) beneath the down-

12 the mechanistic links between chromosome 21 triplication and B-ALL remain undefined.

13 We found a direct link between gene triplication and defects in neuron production during emb

14 rters have arisen by intragenic duplication, triplication and quadruplication events, in which the nu

15 bidopsis, B. rapa has undergone whole genome triplication and subsequent diploidization that has invo

16 The triplication and subsequent mode of fractionation could

17 , but also unexpectedly identified recurrent triplications and other complex rearrangements.

18 th duplications are predisposed to acquiring triplications and that the population prevalence of trip

19 complex chromosome rearrangements involving triplications and/or inversions.

20 D-including point mutations and duplication, triplication, and deletion of PLP1-and developed an in v

21 the melon lineage since the ancient eudicot triplication, and our data suggest that transposon ampli

22 ments, including deletions, duplications and triplications, and generation of marker chromosomes.

23 ding interstitial duplications, interstitial triplications, and supernumerary isodicentric marker chr

24 because its gene mutations, duplication, and triplication are associated with early-onset PD.

25 The triplications arose de novo from maternally transmitted

26 We discuss possible origins for this triplication as well as the connection between the cryst

27 es including deletions, duplications, and/or triplications, as well as extensive translocations and i

28 The triplication associated with such a structure might be r

29 establishing the existence of a whole-genome triplication at the base of the Asterids II clade and a

30 to the current Glycine max genome: a genome triplication before the origin of the rosids (~130 to 24

31 and the spatial intermittance of the seismic triplication can be reproduced by a ubiquitous first-ord

32 uclein expression due to gene duplication or triplication can cause familial PD, previous studies of

33 Maternally inherited 15q11-13 chromosomal triplications cause a frequent and highly penetrant type

34 To test the hypothesis that Olig triplication causes the neurological phenotype, we used

35 d LTRs that also retained the 21-bp sequence triplication characteristic of the original virus but ha

36 ype is conferred by a hybrid gene within the triplication, comprising a gene of previously unknown fu

37 e studies indicate that the single-enhancer, triplication-containing FeLV LTR, typical of non-T-cell,

38 genomic rearrangements (CGRs) consisting of triplication copy-number variants (CNVs) that were accom

39 s highlight the need for more robust Xp22.31 triplication detection in that such further gain may be

40 in unique repeat elements, including a 21-bp triplication downstream of the enhancer.

41 n genomic organization, duplication-inverted triplication-duplication (DUP-TRP/INV-DUP), in which the

42 The remainder were triplications embedded within duplications (8.4%), adjac

43 s) with segmental tetrasomy, suggesting that triplications emerge from duplications at a rate as high

44 terns of gene retention following the genome triplication event generally support predictions of the

45 ceae species that experienced a whole-genome triplication event prior to diverging from Brassica rapa

46 We provide evidence for a whole-genome triplication event specific but basal to the Compositae.

47 d in both genomes from a shared whole genome triplication event, and the rates of genetic recombinati

48 oincidentally or shortly following the gamma triplication event.

49 by means of genomic and gene duplication and triplication, exon shuffling, exon accretion, and fusion

50 they evolved separately, subsequent to gene triplication from a common ancestor.

51 tions (A30P, E46K, and A53T) as well as gene triplication genetically link the 140-residue protein al

52 quence analysis showed that the deletion and triplication had occurred in separate intervals.

53 nucleotides, deletions, duplications, and a triplication identified at the breakpoints demonstrate h

54 lthough it shows no sign of the whole-genome triplication identified in Solanaceae species such as to

55 opensity for chromosomal duplication or even triplication in a few cases.

56 paralogous genes generated from whole genome triplication in Brassica rapa.

57 ults identify an essential role for App gene triplication in causing AD-related endosomal abnormaliti

58 We identified CMT1A triplications in families in which the duplication segre

59 identification of germline duplications and triplications in the TPSAB1 gene encoding alpha-tryptase

60 ve shed light on complex forms of SV such as triplications, inverted duplications, insertional transl

61 ssion of this protein resulting from genetic triplication is sufficient to cause human forms of PD.

62 ations and that the population prevalence of triplication is underascertained.

63 n's Disease patients with SNCA A53T and SNCA Triplication mutations, and in this study have different

64 The recombination that generated the triplication occurred between sister chromatids on the d

65 the genes inferred to be present when genome triplication occurred in the Brassica lineage have been

66 ogenitor of this gene family itself arose by triplication of a smaller gene, the rates of evolution o

67 We have recently described a whole-gene triplication of alpha-synuclein causing Lewy body parkin

68 In both trisomy 21 and rare cases of triplication of amyloid precursor protein (APP) Alzheime

69 dependent amidotransferase genes, there is a triplication of aspartyl-tRNA synthetase genes and a dup

70 Down syndrome (DS) is caused by a triplication of chromosome 21 (HSA21).

71 Duplication and triplication of copy number variants of 22q11.2 are cons

72 Down syndrome (DS) is caused by the triplication of human chromosome 21 and represents the m

73 Down syndrome results from triplication of human chromosome 21.

74 ively common genetic condition caused by the triplication of human chromosome 21.

75 ndrome (DS) results from complete or partial triplication of human chromosome 21.

76 mitotically and can result in duplication or triplication of individual genes or even rearrangements

77 Collectively the findings suggest that triplication of Kcnj6 gene may play an active role in so

78 Here we show that germline triplication of only 31 genes orthologous to human chrom

79 letion of negative regulatory elements and a triplication of sequences flanking the deletion.

80 Triplication of SNCA, encoding alpha-synuclein, causes a

81 Triplication of some Brassica chromatin and duplication

82 with Parkinson's disease (PD) resulting from triplication of the alpha-synuclein (SNCA) gene locus al

83 orted by point mutations and duplication and triplication of the alpha-synuclein gene (SNCA) that are

84 Point mutation, duplication, or triplication of the alpha-synuclein gene can all cause P

85 Genomic triplication of the alpha-synuclein gene recently has be

86 lly trisomic mouse (Ts65Dn) that possesses a triplication of the distal region of chromosome 16 has b

87 The Ts mouse contains the core genomic triplication of the DS critical region, which includes 3

88 Wld(s) mice have a triplication of the fusion gene Ube4b/Nmnat and a phenot

89 Duplication or triplication of the length of the AU sequence in both RN

90 In addition, we identified a 260 bp triplication of the mtDNA D-loop for the first time in s

91 a-synuclein gene (A30P and A53T), as well as triplication of the wild-type (WT) locus, have been link

92 Angelman syndrome (AS), while duplication or triplication of UBE3A is linked to autism.

93 homologous to genes on human chromosome 21, triplication of Usp16 reduces the self-renewal of haemat

94 Conversely, duplication or triplication of Xq28 causes an equally wide-ranging prog

95 ts consisting of intermixed duplications and triplications of genomic segments at the MECP2 and PLP1

96 Given that duplications and triplications of SNCA have been implicated in familial P

97 The causative mutation is an 85 kb tandem triplication on distal mouse chromosome 4.

98 Duplication, triplication or genetic mutations in alpha-syn (A53T, A3

99 ha-synuclein levels due to gene duplications/triplications or impaired degradation is sufficient to t

100 somal rearrangements including duplications, triplications, or supernumerary marker formation.

101 ced pluripotent stem cell lines from an SNCA triplication patient and an unaffected first-degree rela

102 We show that SNCA Triplication pMac, but not A53T pMac, have significantly

103 SNCA Triplication pMac, but not A53T pMac, show significantly

104 anded B30.2 domain v3 region due to a tandem triplication, potently blocked infection by a range of r

105 opy number variations: a complex duplication-triplication re-arrangement and an intragenic deletion,

106 To determine if the LTR triplication represents a viral enhancer element, we ins

107 Following repeated duplication/triplication(s), angiosperm chromosome numbers have usua

108 ids, E. ulmoides underwent an ancient genome triplication shared by core eudicots but no further whol

109 PLP1 was not more affected than those with a triplication, suggesting that there is possibly a limit

110 Chromosome 21q22 triplication suppresses histone H3 Lys27 trimethylation

111 mber of the gene causes MECP2 duplication or triplication syndromes.

112 Upon triplication, the PLE3 element was a strong enhancer in

113 % decrease of cavity volume produced by tail triplication, there does not appear to be an effect of "

114 Triplications, unlike deletions and duplications, are po

115 ts a viral enhancer element, we inserted the triplication upstream and downstream in either orientati

116 ed genes retained from a shared whole genome triplication was detected at higher rates in B. rapa tha

117 the remaining case, a novel internal tandem triplication was found in exon 11.

118 lation of reporter gene activity by the TBLV triplication was relatively orientation independent, con

119 gnificance of the recurrent duplications and triplications were assessed using different approaches.

120 ADE2, RIM20, and YGR189), while only allelic triplications were found at two essential loci (SNF1 and

121 a patients, while 2 extra doses of the gene (triplication) were detected in a fourth normal-tension g

122 ca genomes have all undergone a whole-genome triplication (WGT) event with unknown effects on phenoty

123 g homozygous insertion mutations and allelic triplications, which have two insertion alleles and a wi