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1 ing premanifest HD individuals who carry the CAG expansion.
2 in individuals with CAG expansion vs without CAG expansion.
3 n1 knock-out-induced acceleration of somatic CAG expansion.
4 onuclease domain was associated with reduced CAG expansion.
5 dary structure is believed to play a role in CAG expansions.
6 ion, and repair of slipped-CAGs and promotes CAG expansions.
7 ognition task to 475 individuals with the HD CAG expansion and 57 individuals without.
8 longitudinal cohort, 345 (35.1%) carried the CAG expansion and 638 (64.9%) did not.
9        We propose that enhanced somatic mHTT CAG expansion and altered synaptic function act together
10 piny striatal neurons that exhibit extensive CAG expansion and exquisite disease vulnerability.
11 , providing insight into pathways underlying CAG expansion and potential therapeutic targets.
12  identify modifiers that act at the level of CAG expansion and/or downstream pathogenic processes, we
13  model that harbors a mutant AR gene with 97 CAG expansions and characteristic SBMA-like neurogenic p
14 ein reduction is needed to attenuate somatic CAG expansions and elicit therapeutic benefits in HD dis
15 of ~ 1 between the prevention of somatic Htt CAG expansions and MSH3 protein expression in vivo, supp
16 nscriptional changes associated with somatic CAG expansions and striatal toxicity.
17     The diverse clinical phenotypes of ATXN2 CAG expansions and their coexistence in a single family
18 f HD onset and progression, promotes somatic CAG expansions, and thus presents a potential therapeuti
19                              In summary, CTG*CAG expansions are limited by the abundance of MutSbeta
20            Our data support a model in which CAG expansions are necessary but may not be sufficient f
21                                              CAG expansions arise at mHTT in striatal medium spiny ne
22                   To determine the impact of CAG expansion at the molecular level, we have developed
23 how early during human embryogenesis the HTT-CAG expansion can cause embryonic defects remains unknow
24             Unexpectedly, we discovered that CAG expansion constructs express homopolymeric polygluta
25  whose aberrant resolution will then lead to CAG expansions, contractions, and repeat-mediated chromo
26 patterns indicate different propensities for CAG expansion contributed by disease locus-independent t
27             However, the relationships among CAG expansions, death of specific cell types and molecul
28 tients with Huntington's disease, which is a CAG expansion disorder expressing eCAGr RNA.
29 orders in which the underlying mutation is a CAG expansion encoding a polyglutamine tract.
30 orders in which the underlying mutation is a CAG expansion encoding a polyglutamine tract.
31             In addition to the length of the CAG expansion, factors such as genetic background have b
32  this technique to clone the pathogenic SCA7 CAG expansion from an archived DNA sample of an individu
33               Baseline comparability between CAG expansion (&gt;/=37 repeats) and nonexpansion (<37 repe
34  5-y-old OVT73-line sheep expressing a human CAG-expansion HTT cDNA transgene.
35 eral cells may be a useful source to measure CAG expansion in biomarker assays for therapeutic effort
36  the mismatch repair protein MLH3 in somatic CAG expansion in HD mice and patient cells.
37                                     Finally, CAG expansion in HD patient-derived primary fibroblasts
38 erited neurodegenerative disease caused by a CAG expansion in HTT(2).
39 nant neurodegenerative disorder, caused by a CAG expansion in the atrophin-1 gene.
40 H3 endonuclease domain completely eliminated CAG expansion in the brain and peripheral tissues of a H
41        Given that the trajectory for somatic CAG expansion in the brains of Huntington's disease muta
42  neurodegenerative disorder caused by a poly-CAG expansion in the first exon of the HTT gene, resulti
43 eurodegenerative disease that is caused by a CAG expansion in the first exon of the huntingtin gene.
44 inant neurodegenerative disorder caused by a CAG expansion in the gene-encoding Huntingtin (HTT).
45 erited neurodegenerative disease caused by a CAG expansion in the HTT gene.
46 (HD) is a polyglutamine disorder caused by a CAG expansion in the Huntingtin (HTT) gene exon 1.
47 fatal neurodegenerative disorder caused by a CAG expansion in the huntingtin (HTT) gene, coding for p
48 nifest subjects, 58 HD patients with similar CAG expansion in the huntingtin gene (HTT), and 44 healt
49 rable neurodegenerative disorder caused by a CAG expansion in the huntingtin gene (HTT).
50           Huntington's disease arises from a CAG expansion in the huntingtin gene beyond a critical t
51     Huntington's disease (HD) is caused by a CAG expansion in the huntingtin gene.
52 ty to a particular phenotype precipitated by CAG expansion in the Huntington's disease gene.
53  into aggregates in NIID in the absence of a CAG expansion in the SCA1 and SCA3 genes.
54 ormed comprehensive quantitative analyses of CAG expansion in ~50 central nervous system (CNS) and pe
55         Polyglutamine diseases are caused by CAG expansions in discrete genes, making them ideal cand
56  repair of slipped-CAGs and protects against CAG expansions in human cells.
57                                              CAG expansions in MSNs are associated with higher levels
58                                              CAG expansions in the absence of H4 HATs NuA4 and Hat1 a
59 obulbar muscular atrophy (SBMA) is caused by CAG expansions in the androgen receptor gene.
60 se is a neurodegenerative disorder caused by CAG expansions in the huntingtin (HTT) gene.
61                                     Abnormal CAG expansions in the IT-15 gene are associated with Hun
62 ssociated with the cytosine-adenine-guanine (CAG) expansion in individuals before diagnosis of Huntin
63  type 2 (SCA2) is caused by a trinucleotide (CAG) expansion in the coding region of the ataxin 2 gene
64 isease caused by cytosine, adenine, guanine (CAG) expansion in the Huntingtin (HTT) gene, translating
65 he trinucleotide cytosine, adenine, guanine (CAG) expansion in the Huntingtin gene.
66 ast to the classic definition of imprinting, CAG expansion is influenced by the gender of the embryo.
67 tle and early functional consequences of the CAG expansion longitudinally.
68 of alternative splicing is widespread across CAG expansion mouse models of SCAs 1, 3 and 7.
69                        Cloning the causative CAG expansion mutation for this new disease, which we ha
70 inant neurodegenerative disorder caused by a CAG expansion mutation in HTT, the gene encoding hunting
71 er region, transcription start site, and the CAG expansion mutation of the mutant HTT gene, resulting
72                 The causal mutation is a CTG/CAG expansion mutation on chromosome 16q24.3, in a varia
73 omatic individuals with the Huntingtin (HTT) CAG expansion mutation that causes Huntington's disease
74 der due to a toxic dominant gain-of-function CAG expansion mutation.
75 milar to HD and that arises from a different CAG expansion mutation.
76 urodegenerative disease caused by a triplet (CAG) expansion mutation.
77 ive diseases, several of which are caused by CAG expansion mutations (SCAs 1, 2, 3, 6, 7 and 12) and
78 analysis of healthy controls and carriers of CAG expansion mutations in HTT participating in the 3-ye
79 ts for the HD expansion, for all other known CAG expansion mutations, and for linkage to chromosomes
80                                Pathogenic HD CAG-expansion mutations create a polyglutamine (polyQ) t
81                          Confirmation of new CAG-expansion mutations on this haplotype suggests that
82                               Extensive mHTT CAG expansions occur in vulnerable layer 5a pyramidal ce
83                                      Somatic CAG expansion occurs throughout life and understanding t
84  SCA3, we generated a mouse model in which a CAG expansion of 82 repeats was inserted into the murine
85                                          The CAG expansion of huntingtin (mHTT) associated with Hunti
86                          Q175 mice express a CAG expansion of the human mutant huntingtin allele in t
87 s disease (HD) cortex, the nature of somatic CAG expansions of mHTT in these cells, and their importa
88      We blindly screened 20 HD probands with CAG expansions of the HD gene, ranging in size between 1
89 ter tool and visual validation, to detect AR CAG expansion on whole-genome sequencing data, benchmark
90 mics of TGFB signaling demonstrated that HTT-CAG expansion perturbs the spatial restriction of activi
91                                Age-dependent CAG expansion provides a direct molecular link between o
92  Thus, Msh3 and Pms1 drive fast somatic mHtt CAG-expansion rates in HD-vulnerable neurons to elicit r
93 egulation of alternative splicing across all CAG expansion SCA lines investigated, with disease relev
94 nts a novel and shared pathogenic process in CAG expansion SCA1, 3 and 7 and can potentially be used
95  the contribution of alternative splicing in CAG expansion SCAs is poorly understood.
96 tic dysregulation of alternative splicing in CAG expansion SCAs may contribute to disease onset, earl
97 is responsive to therapeutic intervention in CAG expansion SCAs with Atxn1 targeting antisense oligon
98                    Mice heterozygous for the CAG expansion show intergenerational repeat instability
99 the longitudinal analyses, participants with CAG expansions showed significant worsening in motor (0.
100 potent stem cell model of HD led to rates of CAG expansion similar to those observed with complete FA
101                      In addition to germline CAG expansions, somatic repeat expansions in neurons als
102 37, one of the shortest expansions seen in a CAG expansion syndrome.
103  is a neurodegenerative disorder caused by a CAG expansion that results in elongation of the polyglut
104 As for which the genes are known result from CAG expansions that encode polyglutamine tracts.
105                               Among the rare CAG expansions, the largest gain in tract size was 38 re
106                    Routes to slowing somatic CAG expansion, therefore, hold promise for disease-modif
107 8 (SCA8) and myotonic dystrophy type 1 (DM1) CAG expansion transcripts results in the accumulation of
108 st example of a dominant SCA not caused by a CAG expansion translated as a polyglutamine tract.
109  disease mutation status in individuals with CAG expansion vs without CAG expansion.
110                                              CAG expansion was observed in all tissues, but to differ
111                      1078 individuals with a CAG expansion were included in this analysis.
112       Both decreased SCR and the increase in CAG expansions were due to the unique Thr126 residue in
113             For a fixed age of onset, longer CAG expansions were predictive of shorter survival.
114 erative disorder associated with an abnormal CAG expansion, which translates into an expanded polyglu
115         Both knockouts moderately attenuated CAG expansion, with Hdac2 knockout decreasing nuclear hu
116  is a neurodegenerative disorder caused by a CAG expansion within the huntingtin gene that encodes a

 
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