戻る
「早戻しボタン」を押すと検索画面に戻ります。 [閉じる]

コーパス検索結果 (１語後でソート)

通し番号をクリックするとPubMedの該当ページを表示します
1 copy of this gene in glaucoma patients (gene triplication).
2 amily described here and who also carry this triplication.
3 nsonism with dementia due to alpha-synuclein triplication.
4 apidly through PCR tests for homozygosis and triplication.
5 ion of the RAP sequence revealed an internal triplication.
6 erated from patients with LBD with SNCA gene triplication.
7 ndogenous alphaSyn in iNeurons carrying SNCA triplication.
8 uction of PD in humans with SNCA duplication/triplication.
9 experienced an additional independent genome triplication.
10 % for the earlier beta-duplication and gamma-triplication.
11 opies are identical and are part of a tandem triplication.
12 nisms appear to be required for genomic SNCA triplication.
13 than double the normal ATPase rate upon tail triplication.
14 ll lines carrying 15q11- q13 duplications or triplications.
15 e present evidence for the existence of a D" triplication (a putative phase change) beneath the down-
16  the mechanistic links between chromosome 21 triplication and B-ALL remain undefined.
17          We found a direct link between gene triplication and defects in neuron production during emb
18 rters have arisen by intragenic duplication, triplication and quadruplication events, in which the nu
19 bidopsis, B. rapa has undergone whole genome triplication and subsequent diploidization that has invo
20                                          The triplication and subsequent mode of fractionation could
21                                              Triplications and certain point mutations in the SNCA ge
22 , but also unexpectedly identified recurrent triplications and other complex rearrangements.
23 th duplications are predisposed to acquiring triplications and that the population prevalence of trip
24  complex chromosome rearrangements involving triplications and/or inversions.
25 D-including point mutations and duplication, triplication, and deletion of PLP1-and developed an in v
26  the melon lineage since the ancient eudicot triplication, and our data suggest that transposon ampli
27  autosomal dominant mutations, A53T and SNCA-triplication, and their corresponding corrected lines by
28 ments, including deletions, duplications and triplications, and generation of marker chromosomes.
29 ding interstitial duplications, interstitial triplications, and supernumerary isodicentric marker chr
30 because its gene mutations, duplication, and triplication are associated with early-onset PD.
31                                          The triplications arose de novo from maternally transmitted
32         We discuss possible origins for this triplication as well as the connection between the cryst
33 es including deletions, duplications, and/or triplications, as well as extensive translocations and i
34                                          The triplication associated with such a structure might be r
35 establishing the existence of a whole-genome triplication at the base of the Asterids II clade and a
36 iobank, we identified 19 duplications but no triplications at this locus.
37  to the current Glycine max genome: a genome triplication before the origin of the rosids (~130 to 24
38 and the spatial intermittance of the seismic triplication can be reproduced by a ubiquitous first-ord
39 uclein expression due to gene duplication or triplication can cause familial PD, previous studies of
40    Maternally inherited 15q11-13 chromosomal triplications cause a frequent and highly penetrant type
41             To test the hypothesis that Olig triplication causes the neurological phenotype, we used
42 d LTRs that also retained the 21-bp sequence triplication characteristic of the original virus but ha
43 ype is conferred by a hybrid gene within the triplication, comprising a gene of previously unknown fu
44 e studies indicate that the single-enhancer, triplication-containing FeLV LTR, typical of non-T-cell,
45  genomic rearrangements (CGRs) consisting of triplication copy-number variants (CNVs) that were accom
46 s highlight the need for more robust Xp22.31 triplication detection in that such further gain may be
47 on, and DAns from patients carrying the SNCA triplication displayed oligomeric alphaSyn pathology and
48 in unique repeat elements, including a 21-bp triplication downstream of the enhancer.
49 n genomic organization, duplication-inverted triplication-duplication (DUP-TRP/INV-DUP), in which the
50                           The remainder were triplications embedded within duplications (8.4%), adjac
51 s) with segmental tetrasomy, suggesting that triplications emerge from duplications at a rate as high
52 have undergone only one ancient whole-genome triplication event during evolution.
53 terns of gene retention following the genome triplication event generally support predictions of the
54 ceae species that experienced a whole-genome triplication event prior to diverging from Brassica rapa
55 ensis has undergone two WGDs since the gamma triplication event shared by all eudicots.
56       We provide evidence for a whole-genome triplication event specific but basal to the Compositae.
57 e annotated for each haplotype genome, and a triplication event that occurred approximately 58.12 mil
58 d in both genomes from a shared whole genome triplication event, and the rates of genetic recombinati
59 formed due to Brassica specific whole-genome-triplication event, showed differential involvement duri
60  genes are impacted by a recent whole-genome triplication event.
61 oincidentally or shortly following the gamma triplication event.
62 tative whole-genome duplication/whole-genome triplication events across Fabaceae, including those at
63 by means of genomic and gene duplication and triplication, exon shuffling, exon accretion, and fusion
64  they evolved separately, subsequent to gene triplication from a common ancestor.
65 S, where DSCAM is overexpressed due to DSCAM triplication, GABAergic innervation of PyNs by basket an
66 tions (A30P, E46K, and A53T) as well as gene triplication genetically link the 140-residue protein al
67 quence analysis showed that the deletion and triplication had occurred in separate intervals.
68  nucleotides, deletions, duplications, and a triplication identified at the breakpoints demonstrate h
69 lthough it shows no sign of the whole-genome triplication identified in Solanaceae species such as to
70 opensity for chromosomal duplication or even triplication in a few cases.
71 ation in healthy human neurons or MAP1B gene triplication in ASD patient-derived neurons inhibit morp
72 paralogous genes generated from whole genome triplication in Brassica rapa.
73 ults identify an essential role for App gene triplication in causing AD-related endosomal abnormaliti
74                                       Dyrk1a triplication in Down's syndrome and its overexpression i
75                          We identified CMT1A triplications in families in which the duplication segre
76  identification of germline duplications and triplications in the TPSAB1 gene encoding alpha-tryptase
77 ve shed light on complex forms of SV such as triplications, inverted duplications, insertional transl
78                       These include a tandem triplication involving CYP17A1, a gene controlling andro
79 ssion of this protein resulting from genetic triplication is sufficient to cause human forms of PD.
80 ations and that the population prevalence of triplication is underascertained.
81 rived dopaminergic neurons carrying the SNCA-Triplication mutation, which accumulated a-synuclein oli
82                                  Duplication/triplication mutations of the SNCA locus, encoding alpha
83 n's Disease patients with SNCA A53T and SNCA Triplication mutations, and in this study have different
84         The recombination that generated the triplication occurred between sister chromatids on the d
85 the genes inferred to be present when genome triplication occurred in the Brassica lineage have been
86 ogenitor of this gene family itself arose by triplication of a smaller gene, the rates of evolution o
87      We have recently described a whole-gene triplication of alpha-synuclein causing Lewy body parkin
88         In both trisomy 21 and rare cases of triplication of amyloid precursor protein (APP) Alzheime
89 dependent amidotransferase genes, there is a triplication of aspartyl-tRNA synthetase genes and a dup
90       Overdosage of Ube3a via duplication or triplication of chromosomal region 15q11-13 causes 1 to
91 genetic basis of DS has been identified as a triplication of chromosome 21 (HSA21), the genes encoded
92            Down syndrome (DS) is caused by a triplication of chromosome 21 (HSA21).
93 ome (DS) is a genetic disorder driven by the triplication of chromosome 21 (T21) and characterized by
94            Down syndrome is characterized by triplication of chromosome 21, leading to early-onset Al
95    Down syndrome (DS) is typically caused by triplication of chromosome 21.
96                              Duplication and triplication of copy number variants of 22q11.2 are cons
97                         However, whether the triplication of DSCAM contributes to presynaptic develop
98          Down syndrome (DS) is caused by the triplication of human chromosome 21 and represents the m
99 ndrome (DS) results from complete or partial triplication of human chromosome 21.
100                   Down syndrome results from triplication of human chromosome 21.
101 ively common genetic condition caused by the triplication of human chromosome 21.
102        Finally, a mouse model of DS carrying triplication of IFN receptors exhibits KP dysregulation.
103 mitotically and can result in duplication or triplication of individual genes or even rearrangements
104       Collectively the findings suggest that triplication of Kcnj6 gene may play an active role in so
105                   Here we show that germline triplication of only 31 genes orthologous to human chrom
106 letion of negative regulatory elements and a triplication of sequences flanking the deletion.
107                                              Triplication of SNCA, encoding alpha-synuclein, causes a
108                                              Triplication of some Brassica chromatin and duplication
109 with Parkinson's disease (PD) resulting from triplication of the alpha-synuclein (SNCA) gene locus al
110 orted by point mutations and duplication and triplication of the alpha-synuclein gene (SNCA) that are
111              Point mutation, duplication, or triplication of the alpha-synuclein gene can all cause P
112                                      Genomic triplication of the alpha-synuclein gene recently has be
113 son's disease patient-derived neurons with a triplication of the alpha-synuclein locus show disruptio
114    These predispositions necessarily include triplication of the amyloid precursor protein (APP), but
115 o AD in DS is thought to be primarily due to triplication of the amyloid precursor protein located on
116 lly trisomic mouse (Ts65Dn) that possesses a triplication of the distal region of chromosome 16 has b
117       The Ts mouse contains the core genomic triplication of the DS critical region, which includes 3
118                           Wld(s) mice have a triplication of the fusion gene Ube4b/Nmnat and a phenot
119 dentified two carriers (mother and son) of a triplication of the gene encoding glycine decarboxylase,
120 red allelic series in mice, we report that a triplication of the gene encoding the glycine-catabolizi
121                                              Triplication of the Ifnr locus modulates hallmarks of DS
122                          We demonstrate that triplication of the interferon receptor (IFNR) gene clus
123                               Duplication or triplication of the length of the AU sequence in both RN
124          In addition, we identified a 260 bp triplication of the mtDNA D-loop for the first time in s
125                    Our findings suggest that triplication of the non-Hsa21 orthologous Mmu17 genes si
126 paminergic neurons from a patient carrying a triplication of the SNCA gene.
127 atients carrying the A53T SNCA mutation or a triplication of the SNCA locus and differentiated them i
128 a-synuclein gene (A30P and A53T), as well as triplication of the wild-type (WT) locus, have been link
129 Angelman syndrome (AS), while duplication or triplication of UBE3A is linked to autism.
130  homologous to genes on human chromosome 21, triplication of Usp16 reduces the self-renewal of haemat
131                   Conversely, duplication or triplication of Xq28 causes an equally wide-ranging prog
132 ts consisting of intermixed duplications and triplications of genomic segments at the MECP2 and PLP1
133                  Given that duplications and triplications of SNCA have been implicated in familial P
134                             Duplications and triplications of SNCA, the gene coding for alpha-Syn, ca
135                            Both models carry triplications of the same 103 human chromosome 21 gene o
136 her, our findings define palindrome-mediated triplication on 16p13.3 as the cause of a clinically dis
137    The causative mutation is an 85 kb tandem triplication on distal mouse chromosome 4.
138 homeostasis (overexpression; patient-derived triplication or E46K mutation; E46K mice).
139                                 Duplication, triplication or genetic mutations in alpha-syn (A53T, A3
140 ha-synuclein levels due to gene duplications/triplications or impaired degradation is sufficient to t
141 s to identify complex inversion breakpoints, triplications or other high copy number polymorphisms, a
142 somal rearrangements including duplications, triplications, or supernumerary marker formation.
143 alleviated mitochondrial dysfunction in SNCA triplication organoids and excitatory neurons.
144 ced pluripotent stem cell lines from an SNCA triplication patient and an unaffected first-degree rela
145                            We show that SNCA Triplication pMac, but not A53T pMac, have significantly
146                                         SNCA Triplication pMac, but not A53T pMac, show significantly
147 anded B30.2 domain v3 region due to a tandem triplication, potently blocked infection by a range of r
148 opy number variations: a complex duplication-triplication re-arrangement and an intragenic deletion,
149 n neurons derived from individuals with SNCA triplications reduces phosphorylated and total alpha-Syn
150                      To determine if the LTR triplication represents a viral enhancer element, we ins
151               Following repeated duplication/triplication(s), angiosperm chromosome numbers have usua
152 ids, E. ulmoides underwent an ancient genome triplication shared by core eudicots but no further whol
153                 We used patient-derived SNCA triplication (SNCA-4x) and isogenic control (SNCA-corr)
154 red neurons derived from a patient with SNCA-triplication (SNCA-Tri) and a Control.
155 PLP1 was not more affected than those with a triplication, suggesting that there is possibly a limit
156                             Chromosome 21q22 triplication suppresses histone H3 Lys27 trimethylation
157 mber of the gene causes MECP2 duplication or triplication syndromes.
158                                         Upon triplication, the PLE3 element was a strong enhancer in
159 % decrease of cavity volume produced by tail triplication, there does not appear to be an effect of "
160                                              Triplications, unlike deletions and duplications, are po
161 ts a viral enhancer element, we inserted the triplication upstream and downstream in either orientati
162 ed genes retained from a shared whole genome triplication was detected at higher rates in B. rapa tha
163  the remaining case, a novel internal tandem triplication was found in exon 11.
164 lation of reporter gene activity by the TBLV triplication was relatively orientation independent, con
165 gnificance of the recurrent duplications and triplications were assessed using different approaches.
166 ADE2, RIM20, and YGR189), while only allelic triplications were found at two essential loci (SNF1 and
167 a patients, while 2 extra doses of the gene (triplication) were detected in a fourth normal-tension g
168 ca genomes have all undergone a whole-genome triplication (WGT) event with unknown effects on phenoty
169  report the consequences of the whole-genome triplication (WGT) on intraspecific diversification usin
170 of the tribe Brassiceae share a whole-genome triplication (WGT), and one proposed model for its forma
171 g homozygous insertion mutations and allelic triplications, which have two insertion alleles and a wi

 
Page Top