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1 ative disease spinocerebellar ataxia type 7 (SCA7).
2 tive disorder spinocerebellar ataxia type 7 (SCA7).
3 generative disease spinocerebellar ataxia 7 (SCA7).
4 ntic model of spinocerebellar ataxia type 7 (SCA7).
5 proteolysis in the molecular pathogenesis of SCA7.
6 been identified: SCA1, SCA2, SCA3, SCA6, and SCA7.
7 ndividual nuclei from mice and patients with SCA7.
8 expression in the cerebella of patients with SCA7.
9 d counseling among families of patients with SCA7.
10 and retinal degeneration in a mouse model of SCA7.
11 that contribute to the tissue specificity of SCA7.
12 uding Huntington disease as well as SCA3 and SCA7.
13  effective target to reduce neurotoxicity in SCA7.
14 in cell culture and primary neuron models of SCA7.
15 ective pathology and neuronal dysfunction in SCA7.
16                    Furthermore, we show that SCA7(140Q/5Q) males and females exhibit the major diseas
17                                              SCA7(140Q/5Q) mice represent an accurate model for the i
18             Using a new SCA7 knock-in mouse, SCA7(140Q/5Q), we analyzed gene expression in the cerebe
19 ubtypes was the predominant signal in PCs of SCA7-266Q mice and was associated with the loss of zebri
20             Single-nucleus RNA sequencing in SCA7-266Q mice revealed dysregulation of cell identity g
21              These transcriptomic changes in SCA7-266Q mice were associated with increased numbers of
22 he highest proportion of DEGs in symptomatic SCA7-266Q mice.
23        Because enteric neuropathology in PrP-SCA7-92Q animals is easily missed by routine histopathol
24                               The PrP-floxed-SCA7-92Q BAC mice developed neurological disease, and ex
25 cerebellar cell types, we crossed PrP-floxed-SCA7-92Q BAC mice with Gfa2-Cre transgenic mice (to dire
26 nic animals and tamoxifen-treated PrP-floxed-SCA7-92Q BAC single transgenic mice.
27 otypes are reversible, we crossed PrP-floxed-SCA7-92Q BAC transgenic mice with a tamoxifen-inducible
28 ive by deriving Gfa2-Cre;Pcp2-Cre;PrP-floxed-SCA7-92Q BAC triple transgenic mice, we noted a dramatic
29                                   PrP-floxed-SCA7-92Q BAC;CAGGS-Cre-ER bigenic mice were treated with
30 s through presymptomatic and symptomatic PrP-SCA7-92Q mice and nontransgenic littermates was compared
31 of cholinergic enteric ganglion cells in PrP-SCA7-92Q mice harbor nuclear inclusions composed of tran
32                                          PrP-SCA7-92Q mice may be useful models for human intestinal
33            The enteric neuropathology of PrP-SCA7-92Q mice was investigated after observing that they
34                                          PrP-SCA7-92Q transgenic mice phenocopy many aspects of the h
35 inus, causing spinocerebellar ataxia type 7 (SCA7), a progressive retinal and neurodegenerative disea
36 molecular mechanisms of neurodegeneration in SCA7, a two-hybrid assay was performed to identify ataxi
37 tion of 38 CAG repeats and her daughter with SCA7 and 46 repeats.
38     To gain insight into the pathogenesis of SCA7 and possible functions of ataxin-7, we examined the
39 e one common pathogenic response in SCA1 and SCA7 and reveal the importance of intercellular mechanis
40 valent SCA1, SCA2, SCA3, and SCA6 along with SCA7 and SCA17 are caused by expansion of a CAG repeat t
41 factor involved in the tissue specificity of SCA7 and that trichostatin A may ameliorate deleterious
42 nce accounts for the retinal degeneration in SCA7 and thus may provide an explanation for how cell-ty
43             A 38-year-old woman with classic SCA7 (and a son, who died at age 3 years) had pronounced
44 h subclinical spinocerebellar ataxia type 7 (SCA7) and a borderline mutation of 38 CAG repeats and he
45               There is currently no cure for SCA7, and therapies are aimed at alleviating symptoms to
46    Spinocerebellar ataxias 6 and 7 (SCA6 and SCA7) are neurodegenerative disorders caused by expansio
47          Here, we identify the protein Sgf73/Sca7 as a component of SAGA and SLIK, and a homologue of
48 ansion in the ataxin-7 protein, categorizing SCA7 as one member of a large class of heritable neurode
49 ic silencing using spinocerebellar ataxia 7 (SCA7) as a model.
50  These mice reproduced features of infantile SCA7 (ataxia, visual impairments, and premature death) a
51               Spinocerebellar ataxia type 7 (SCA7) belongs to a group of neurological disorders cause
52 munoreactivity in neurons that degenerate in SCA7 brains.
53 ivity of the DUBm, they likely contribute to SCA7 by initiating aggregates that sequester the DUBm aw
54  used this technique to clone the pathogenic SCA7 CAG expansion from an archived DNA sample of an ind
55 ystem for determining the molecular basis of SCA7 CAG repeat instability.
56 sence of such sequence elements may make the SCA7 CAG repeat region more susceptible to instability.
57  repeat tracts in Drosophila, we crossed the SCA7 CAG90 repeat flies with various deficiency stocks,
58                                We found that SCA7 CAG90 repeats are stable in Drosophila, regardless
59 otide repeat expansions, deriving flies with SCA7 CAG90 repeats in cDNA and genomic context.
60 ilized intergenerational transmission of the SCA7 CAG92 repeat.
61 of ataxin-7 in transfected COS-1 cells using SCA7 cDNA clones with different CAG repeat tract lengths
62 d lines of transgenic mice carrying either a SCA7 cDNA construct or a 13.5 kb SCA7 genomic fragment w
63 eat expansions are absent from the brains of SCA7 cDNA mice, our results indicate that neurodegenerat
64 analyses demonstrate reduced levels of S4 in SCA7 cerebella without evident alterations in the levels
65 tion interference is a predominant factor in SCA7 cone-rod dystrophy retinal degeneration.
66 ce lacking the D266N mutation, we found that SCA7-D266N mice exhibited improved motor performance, re
67                             When we compared SCA7-D266N mice with SCA7 mice lacking the D266N mutatio
68                 These findings indicate that SCA7 disease pathogenesis involves a convergence of alte
69    The results suggest that one mechanism of SCA7 disease pathogenesis is transcription dysregulation
70 ther caspase cleavage is a critical event in SCA7 disease pathogenesis, we generated transgenic mice
71 A inhibition that potentially contributes to SCA7 disease pathogenesis.
72 g of ataxin-7 by caspase-7 may contribute to SCA7 disease pathogenesis.
73 nic mice, we noted a dramatic improvement in SCA7 disease phenotypes.
74 sts between ataxin-7 proteolysis and in vivo SCA7 disease progression.
75  SAGA and SLIK, and a homologue of the human SCA7-encoded protein ataxin-7, which, in its polyglutami
76                                Patients with SCA7 experience progressive ataxia, atrophy, spasticity,
77                                          The SCA7 gene product, ataxin-7, is an 897 amino acid protei
78 oding a polyglutamine tract in ataxin-7, the SCA7 gene product.
79                                       As the SCA7 genomic fragment contains a large number of replica
80 ng either a SCA7 cDNA construct or a 13.5 kb SCA7 genomic fragment with 92 CAG repeats.
81             The gene mutated in the disease (SCA7) has been mapped to chromosome 3p12-13.5, and posit
82   Strikingly, most PC genes downregulated in SCA7 have also decreased expression in SCA1 and SCA2 mic
83 n ataxin-7 is able to compliment the loss of Sca7 in yeast.
84 ted infantile spinocerebellar ataxia type 7 (SCA7), in which a tract of (CAG)45 expands to lengths as
85       The gene for spinocerebellar ataxia 7 (SCA7) includes a transcribed, translated CAG tract that
86 recapitulates the clinical features of human SCA7, including selective neuronal dysfunction, we asses
87 dysregulation underlies Sirt1 dysfunction in SCA7, indicating that cerebellar ataxias exhibit altered
88 logy for a polyglutamine disease by relating SCA7-induced retinal degeneration to a disruption of the
89                        The ATXN7 involved in SCA7 is a subunit of SAGA transcriptional coactivator co
90                                              SCA7 is caused by a CAG/polyglutamine (polyQ) repeat exp
91                                              SCA7 is caused by polyglutamine expansion in ATXN7, a su
92                                   In humans, SCA7 is characterized by marked anticipation due to inte
93                          A unique feature of SCA7 is degeneration of photoreceptor cells in the retin
94                                              SCA7 is dominantly inherited and characterized by geneti
95             Our findings indicate that yeast Sca7 is necessary for the integrity and function of both
96               Spinocerebellar ataxia type 7 (SCA7) is a debilitating neurodegenerative disease caused
97               Spinocerebellar ataxia type 7 (SCA7) is a dominantly inherited disorder characterized b
98               Spinocerebellar ataxia type 7 (SCA7) is a dominantly inherited neurodegenerative disord
99               Spinocerebellar ataxia type 7 (SCA7) is a genetic neurodegenerative disorder caused by
100               Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative disease caused by expansion
101               Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative disease caused by polygluta
102               Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative disorder caused by CAG/poly
103               Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative disorder characterized by a
104               Spinocerebellar ataxia type 7 (SCA7) is a polyglutamine (polyQ) disorder characterized
105               Spinocerebellar ataxia type 7 (SCA7) is a progressive neurodegenerative disorder result
106               Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant cerebellar ataxia caused
107               Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant disorder caused by a CAG
108               Spinocerebellar ataxia type 7 (SCA7) is an autosomal-dominant neurodegenerative disorde
109               Spinocerebellar ataxia type 7 (SCA7) is an inherited CAG-polyglutamine repeat disorder.
110               Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disease mainly c
111               Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disorder caused
112 tive disorder spinocerebellar ataxia type 7 (SCA7) is caused by a polyglutamine (polyQ) expansion in
113               Spinocerebellar ataxia type 7 (SCA7) is characterized by cone-rod dystrophy retinal deg
114               Spinocerebellar ataxia type 7 (SCA7) is one of the latest additions to the list of trip
115 IFICANCE STATEMENT Spinocerebellar ataxia 7 (SCA7) is one of the several forms of inherited SCAs char
116 ermined expansions in 73 individuals from 17 SCA7 kindreds and compared them with repeat lengths of 1
117                                  Using a new SCA7 knock-in mouse, SCA7(140Q/5Q), we analyzed gene exp
118 uses infantile-onset disease) into the mouse Sca7 locus to generate an authentic model of spinocerebe
119        Nearly all of the mutant sperm of two SCA7 males contain alleles that are so large that most o
120    We crossed Sirt1-overexpressing mice with SCA7 mice and noted rescue of neurodegeneration and calc
121 e riboside ameliorated disease phenotypes in SCA7 mice and patient stem cell-derived neurons.
122 tamate transporter GLAST was reduced in Gfa2-SCA7 mice and was associated with impaired glutamate tra
123        When we compared SCA7-D266N mice with SCA7 mice lacking the D266N mutation, we found that SCA7
124                    Transcriptome analysis of SCA7 mice revealed downregulation of calcium flux genes
125  expression strongly enhances retinopathy in SCA7 mice, but does not affect the known transcriptional
126 with the onset of a disease phenotype in the SCA7 mice, suggesting that nuclear localization and prot
127  not lead to the early lethality observed in SCA7 mice.
128       Tamoxifen treatment halted or reversed SCA7 motor symptoms, reduced ataxin-7 aggregation in Pur
129 nd we observed reduced Sirt1 activity in the SCA7 mouse cerebellum with NAD(+) depletion.
130  the cell type-specific gene deregulation in SCA7 mouse cerebellum.
131 ure of the Purkinje cell degeneration in our SCA7 mouse model indicates that polyglutamine-induced dy
132 so increased in the cerebellums of mice in a SCA7 mouse model.
133 ed to date in patients with SCA7, similar to SCA7 mouse models.
134                                          The SCA7 mutation probably has an early impact on brainstem
135 cumulation within the cell is a key event in SCA7 neurodegeneration, and enhancing clearance of polyQ
136 econdary to glial dysfunction contributes to SCA7 neurodegeneration, and suggest a similar role for g
137                              To determine if SCA7 neurological and neurodegenerative phenotypes are r
138                 The location of the putative SCA7 nuclear localization sequence (NLS) was confirmed b
139 n the case of spinocerebellar ataxia type 7 (SCA7), one of the most unstable of all CAG/CTG repeat di
140                   Although the mechanisms of SCA7 pathogenesis remain poorly understood, previous stu
141 olytic cleavage may be important features of SCA7 pathogenesis.
142 se progression and play an important role in SCA7 pathogenesis.
143 or the investigation of different aspects of SCA7 pathogenesis.SIGNIFICANCE STATEMENT Spinocerebellar
144 agment of ataxin-7 in transgenic mice and in SCA7 patient material with both anti-ataxin-7 and anti-p
145 mulation of proteolytic cleavage products in SCA7 patients and mouse models has been identified as an
146                                              SCA7 patients displayed increased poly(ADP-ribose) in ce
147 iest neurologic finding even in asymptomatic SCA7 patients with normal ocular fundi.
148 ed, translated CAG tract that is expanded in SCA7 patients.
149 e future to identify therapeutic targets for SCA7 patients.
150 pinocerebellar ataxia type 1 and 7 (SCA1 and SCA7) patients manifest cerebellar ataxia with degenerat
151 tribute to the time of onset and severity of SCA7 phenotypes, and suggest that non-transcriptional fu
152                Significantly, in relation to SCA7, poly(Q)-expanded ataxin-7 gets incorporated into S
153 t implications for the function of the human Sca7 protein in disease pathogenesis.
154 amine disease spinocerebellar ataxia type 7 (SCA7), Purkinje cells undergo non-cell-autonomous degene
155  disorder and spinocerebellar ataxia type 7 (SCA7; ref.
156 e analyses have previously revealed that the SCA7 repeat is highly unstable and liable to expand, in
157 rase chain reaction amplification across the SCA7 repeat tract assessed expansion levels in tissues o
158 nstability reported to date in patients with SCA7, similar to SCA7 mouse models.
159 nts, we studied two mouse models of SCA1 and SCA7 that express the glutamine-expanded protein from th
160 polyQ-expanded ataxin-7 cleavage products in SCA7 transgenic mice similar in size to those generated
161 his and other related disorders, we produced SCA7 transgenic mice that express ataxin-7 with 24 or 92
162                                           In SCA7 transgenic mice, electrophoretic mobility shift ass
163 ted severe Purkinje cell degeneration in 92Q SCA7 transgenic mice.
164  on chromatin immunoprecipitation assays, in SCA7 transgenic mice.
165                                        In an SCA7 transgenic mouse model that we developed, it was fo
166                                         In a SCA7 transgenic mouse model, recruitment of caspase-7 in
167      To further define the cellular basis of SCA7, we derived a conditional inactivation mouse model
168         To understand the pathomechanisms of SCA7, we determined the cell type-specific gene deregula
169                                    Infantile SCA7, which is often paternally transmitted, can rarely
170    Here, we report novel Drosophila lines of SCA7 with polyQ repeats in wild-type and human disease p

 
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