ライフサイエンスコーパス: repeat expansion

1 spiny neurons, FAN1 knockdown increases CAG repeat expansion.

2 s, which may give rise to disease-associated repeat expansion.

3 rotein-coding sequence evolved through a CAG repeat expansion.

4 confirming a proposed mechanism for triplet repeat expansion.

5 8.95%) of 4925 ALS cases carried the C9orf72 repeat expansion.

6 second-degree relatives) carried the C9orf72 repeat expansion.

7 esymptomatic individuals who carry a C9orf72 repeat expansion.

8 h frontotemporal dementia due to the C9orf72 repeat expansion.

9 d FTD-ALS, and patients carrying the C9ORF72 repeat expansion.

10 ion, identifying a role for recombination in repeat expansion.

11 0.2) years, and 37 of them carried a C9ORF72 repeat expansion.

12 uding ALS caused by a C9orf72 hexanucleotide repeat expansion.

13 cases with FECD (69.7%) harbored the triplet repeat expansion.

14 ntingtin protein (mHTT) with a polyglutamine-repeat expansion.

15 ical/neuromuscular disease associated with a repeat expansion.

16 various models of FTD/ALS with GGGGCC (G4C2) repeat expansion.

17 y is not required for protection against CAG repeat expansion.

18 proven inefficient at identifying pathogenic repeat expansions.

19 rodegenerative diseases caused by nucleotide repeat expansions.

20 d correctly flagged all but one of the known repeat expansions.

21 unconventional initiation at disease-causing repeat expansions.

22 that can be used to identify new pathogenic repeat expansions.

23 unction in the same pathway to drive triplet repeat expansions.

24 mples carrying chromosome 9 ORF 72 (C9orf72) repeat expansions.

25 nction, with the inherent risk of pathogenic repeat expansions.

26 quenced genomes to identify disease-relevant repeat expansions.

27 innovative regulatory mechanism for triplet repeat expansions.

28 ons, and identifies many hypermethylated CGG repeat expansions.

29 ] per additional year; p=0.0476), and longer repeat expansions (0.06 [SE 0.02] per additional repeat

30 Together with hexanucleotide-repeat expansion(2,3), haploinsufficiency of C9orf72 con

31 Forty-seven participants with the repeat expansion (55.3%) had undergone keratoplasty at t

32 identified a recessively inherited intronic repeat expansion [(AAGGG)(exp)] in the gene encoding Rep

33 Elevated levels of crossing over and repeat expansions accompany these deletion events, indic

34 C9orf72 hexanucleotide repeats expansions account for almost half of familial a

35 Notably, the effects of the repeat expansion act with incomplete penetrance in famil

36 Southern blot studies combined with repeat expansion analysis of genome sequence data showed

37 incident ALS were genotyped for the C9orf72 repeat expansion and 132 age- and sex-matched controls w

38 sis (ALS), including carriers of the C9orf72 repeat expansion and C9orf72-negative sporadic cases.

39 within this region, we measured the rates of repeat expansion and contraction using novel reporters a

40 strains), suggesting a balancing act between repeat expansion and contraction.

41 termination of CpG methylation states in the repeat expansion and in adjacent regions at the single-m

42 restricts the number of possible models for repeat expansion and supports the idea that MutLgamma ma

43 ificity may require a similar combination of repeat expansion and tailored amino acid variation.

44 for their relation to the length of the CAG repeat expansion and to the residual age at onset (RAO):

45 ts, together with the C9orf72 hexanucleotide repeat expansions and a copy number gain of APP, were fo

46 The increased length results from tandem repeat expansions and an unusual 13 kb IR-SSC boundary s

47 DA patients with two guanine-adenine-adenine repeat expansions and compound heterozygous patients wit

48 Both repeat expansions and contractions are observed, and rep

49 s, small indels (10-50 bp), and short tandem repeat expansions and contractions.

50 t strands to prevent recombination-dependent repeat expansions and contractions.

51 repair protein function in mediating triplet repeat expansions and discuss potential therapeutic appr

52 veal an etiological relationship between HTT repeat expansions and FTD/ALS syndromes and indicate tha

53 t with an additional 1.8 Mb including tandem repeat expansions and genome duplications.

54 sition of some of the largest human-specific repeat expansions and identify 52 STRs/VNTRs with at lea

55 xicity, which is the connecting link between repeat expansions and pathology.

56 e used to accurately detect known pathogenic repeat expansions and provides researchers with a tool t

57 variants, small indels, structural variants, repeat expansions and viral genetic material (or any oth

58 etic structure are thought to be dictated by repeated expansion and contraction of TRFs into and out

59 the 'stem/progenitor' cells that allow this repeated expansion and renewal.

60 ecedented opportunity to study mechanisms of repeat expansion, and a framework for evaluating the rol

61 owever, it is unclear whether the effects of repeat expansion are unique to these specific sequences

62 Longer repeat expansions are associated with genetic anticipati

63 man-specific traits, and more than 40 tandem repeat expansions are known to cause neurological diseas

64 RNA repeat expansions are responsible for more than 30 incur

65 Repeat expansions are responsible for over 40 monogenic

66 C9orf72 hexanucleotide repeat expansions are the most common cause of familial

67 e studies support the process of somatic CAG repeat expansion as a therapeutic target in HD, and they

68 configurational slippage that often leads to repeat expansion associated with neurological diseases.

69 A hexanucleotide repeat expansion at C9ORF72 is the most common genetic c

70 o determined that RAD52 is necessary for CTD repeat expansion but not contraction, identifying a role

71 -/- cells are severely defective for CTG*CAG repeat expansions but show full activity on contractions

72 proteins that has been implicated in triplet repeat expansion, but its action in this deleterious pro

73 lective for the transcription of long, toxic repeat expansions, but not shorter, nontoxic expansions.

74 anticipation in families carrying a C9orf72 repeat expansion by analyzing age at onset, disease dura

75 anticipation in families carrying a C9orf72 repeat expansion by means of a decrease in age at onset

76 described transgenic mice harboring a large repeat expansion (C9-500) and reported decreased surviva

77 NOTCH2NLC GGC repeat expansions can be associated with sporadic ET.

78 We conclude that fast-evolving intragenic repeat expansions can fundamentally change the relations

79 her polyglutamine diseases, suggest that CAG repeat expansions can promote aberrant splicing to produ

80 chromosome 9 open reading frame 72 (C9orf72) repeat expansion carriers.

81 CTG*CAG repeat expansions cause at least twelve inherited neurol

82 Repeat expansions cause dominantly inherited neurologica

83 by unconventional translation of the C9orf72 repeat expansions cause neurodegeneration in cell cultur

84 It has been reported that the repeat expansion causes a downregulation of C9orf72 tran

85 To investigate how the (CTG)n repeat expansion changes over time, we collected three l

86 grade was 5.61 (0.76) in the group with the repeat expansion compared with 5.11 (1.05) in the group

87 lotype among this cohort suggests this novel repeat expansion configuration is a founder effect in th

88 Our results show that tandem DNA repeat expansions contribute strongly to the genetic aet

89 Here we show that repeat expansions create templates for multivalent base-

90 ating interaction between gender and C9orf72 repeat expansions demonstrated that the reduced survival

91 fficient catalog-free method for genome-wide repeat expansion detection.

92 umina HumanOmniExpress-12 BeadChip); C9orf72 repeat expansion detection; and APOE genotyping.

93 echanism by which the C9orf72 hexanucleotide repeat expansion directs C9ALS/FTD pathogenesis remains

94 In those Repeat Expansion Disease models where it has been examin

95 , including frontotemporal dementia, certain repeat expansion diseases and Alzheimer disease.

96 w avenue for the treatment and prevention of repeat expansion diseases and cancer.

97 Fragile X-associated disorders are Repeat Expansion Diseases that result from expansion of

98 The Fragile X-related disorders (FXDs) are Repeat Expansion Diseases, genetic disorders that result

99 common DNA repair mechanism operates in both repeat expansion diseases.

100 the neuron death observed in the nucleotide repeat expansion diseases.

101 ion as an attractive therapy in some triplet repeat expansion diseases.

102 stability and disease course in HD and other repeat expansion diseases.

103 dge on repeat instability mechanisms to cure repeat expansion diseases?

104 a neurologically and pathologically distinct repeat expansion disorder, spinocerebellar ataxia type 1

105 nome, confirming that BSS is a trinucleotide repeat expansion disorder.

106 R variation that perfectly segregates with a repeat expansion disorder.

107 licated as a genetic modifier of the CAG.CTG repeat expansion disorders Huntington's disease and myot

108 e subjects with imprinting and trinucleotide repeat expansion disorders, as well as 106 case subjects

109 glutamine diseases and could extend to other repeat expansion disorders.

110 the most prevalent member of a family of CAG repeat expansion disorders.

111 The presence of the C9orf72 repeat expansion does not fully account for this finding

112 on of C9ORF72 and the mechanism by which the repeat expansion drives neuropathology are unknown.

113 These findings support a model whereby repeat expansions elicit cellular stress conditions that

114 This database, together with a repeat expansion estimation tool such as RepeatHMM, enab

115 opulation with this (CTG.CAG)n trinucleotide repeat expansion exceeds that of the combined number of

116 rontotemporal dementia (FTD), the (G4C2)-RNA repeat expansion from C9orf72 chromosome binds to the Ra

117 GAC repeat expansion from five to seven in the exonic region

118 neration caused by the GGGGCC hexanucleotide repeat expansion (G4C2 HRE) in C9orf72 that causes amyot

119 Using a human FXN-GAA-Luciferase repeat expansion genomic DNA reporter model of FRDA, we

120 Rare tandem repeat expansions had a prevalence of 23.3% in children

121 Although repeat expansion has been established to generate toxic

122 INTRODUCTION: The C9orf72 repeat expansion has been reported as a negative prognos

123 The C9orf72 repeat expansion has been reported as a negative prognos

124 C9ORF72 repeat expansions have a primary role in increasing the

125 Tetranucleotide TTTA and CCTG repeat expansions have been known to cause reduction in

126 rodegenerative diseases caused by nucleotide repeat expansion, have highlighted or identified two for

127 The G4C2 hexanucleotide repeat expansion (HRE) in C9orf72 is the commonest cause

128 GGGGCC hexanucleotide repeat expansions (HREs) in C9orf72 cause amyotrophic la

129 The GGGGCC (G4C2) repeat expansion in a noncoding region of C9orf72 is the

130 To elucidate the consequences of G4C2 repeat expansion in a tractable genetic system, we gener

131 According to our model, repeat expansion in Al-tolerant genotypes increases TF r

132 mark discovery of the C9ORF72 hexanucleotide repeat expansion in ALS/FTD, a transgenic mouse model ha

133 We also assessed ATXN1 CAG repeat expansion in brain regions of an individual with

134 otemporal dementia (FTD) is a hexanucleotide repeat expansion in C9orf72 (C9-HRE).

135 s may be especially true for ALS caused by a repeat expansion in C9orf72 (c9ALS), in which the accumu

136 A noncoding hexanucleotide repeat expansion in C9orf72 is the most common cause of

137 GGGGCC (G(4)C(2)) repeat expansion in C9ORF72 is the most common genetic c

138 A (G4C2)n repeat expansion in C9ORF72 is the most common genetic c

139 The GGGGCC repeat expansion in C9ORF72 is the most common genetic c

140 A hexanucleotide-repeat expansion in C9ORF72 is the most common genetic v

141 Hexanucleotide GGGGCC repeat expansion in C9ORF72 is the most prevalent geneti

142 ENTIFIC COMMENTARY ON THIS ARTICLE: A GGGGCC repeat expansion in C9orf72 leads to frontotemporal deme

143 dementia (ALS/FTD)-associated GGGGCC (G4C2) repeat expansion in C9ORF72, contributes to disease.

144 The (GGGGCC)n repeat expansion in C9orf72, which is the most common ca

145 and amyotrophic lateral sclerosis is a G4C2 repeat expansion in C9ORF72.

146 xamined the prognostic impact of the C9orf72 repeat expansion in European subgroups based on gender a

147 N1 overexpression in human cells reduces CAG repeat expansion in exogenously expressed mutant HTT exo

148 ene expression signatures due to the GAA.TTC repeat expansion in FRDA neuronal cells and the effect o

149 sion studies, knockout of FAN1 increased CAG repeat expansion in HD-induced pluripotent stem cells.

150 nerative disease caused by CAG trinucleotide repeat expansion in HTT, resulting in a mutant huntingti

151 ty-eight patients carried a pathological CAG repeat expansion in HTT, whereas 28 patients (12 women a

152 gton's disease (HD), a disease caused by CAG repeat expansion in huntingtin (htt).

153 A non-coding hexanucleotide repeat expansion in intron 1 of the C9orf72 gene is the

154 cently identified a biallelic intronic AAGGG repeat expansion in replication factor complex subunit 1

155 Repeat expansion in RFC1 should be considered in all cas

156 The CTG18.1 triplet repeat expansion in TCF4 has recently been found to be a

157 eater in FECD cases with the CTG18.1 triplet repeat expansion in TCF4 than in those without the expan

158 isystemic genetic disorder caused by the CTG repeat expansion in the 3'-untranslated region of DMPK g

159 ondition, resulting from a CGG trinucleotide repeat expansion in the 5' leader sequence of the FMR1 g

160 ative disorder caused by a CGG trinucleotide repeat expansion in the 5' UTR of the Fragile X gene, FM

161 A 55-200 CGG repeat expansion in the 5'-UTR of the fragile X mental r

162 ce, temporally associated with long-terminal-repeat expansion in the A subgenome that also raises que

163 nked motoneuron disease due to a CAG triplet-repeat expansion in the androgen receptor (AR) gene, whi

164 e disease caused by CAG (encoding glutamine) repeat expansion in the Ataxin-3 (ATXN3) gene.

165 nant neurodegenerative disease caused by CAG repeat expansion in the ATXN2 gene.

166 order caused by a polyglutamine-encoding CAG repeat expansion in the ATXN3 gene.

167 Hexanucleotide repeat expansion in the bi-directionally transcribed C9o

168 PRn) poly-dipeptide encoded by the (GGGGCC)n repeat expansion in the C9orf72 form of heritable amyotr

169 Repeat expansion in the C9orf72 gene is the most common

170 A hexanucleotide repeat expansion in the C9orf72 gene is the most common

171 A GGGGCC hexanucleotide repeat expansion in the C9orf72 gene is the most common

172 A non-coding hexanucleotide repeat expansion in the C9ORF72 gene is the most common

173 The G4C2 repeat expansion in the C9orf72 gene is the most prevale

174 th sporadic ALS and familial ALS with GGGGCC repeat expansion in the C9orf72 gene, and in induced plu

175 Polyglutamine (polyQ) repeat expansion in the deubiquitinase ataxin-3 causes n

176 ost prevalent of these mutations is a GGGGCC repeat expansion in the first intron of C9ORF72 As shown

177 Based on the knowledge that a GAA.TTC repeat expansion in the first intron of FXN induces hete

178 ease is caused by an abnormally expanded CAG repeat expansion in the HTT gene, which confers a predom

179 HD is caused by a CAG repeat expansion in the Huntingtin (HTT) gene, translati

180 ative disorder caused by a CAG trinucleotide repeat expansion in the huntingtin (HTT) gene, which enc

181 HD is caused by a CAG repeat expansion in the huntingtin (HTT) gene, while HDL

182 d neurodegenerative disorder caused by a CAG repeat expansion in the huntingtin (HTT) gene.

183 Huntington's disease (HD) is caused by a CAG repeat expansion in the huntingtin (HTT) gene.

184 Huntington disease (HD) is caused by a CAG repeat expansion in the huntingtin (HTT) gene.

185 is a neurodegenerative disease caused by CAG repeat expansion in the huntingtin gene (HTT) and involv

186 Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT.

187 l neurodegenerative disorder caused by a CAG repeat expansion in the huntingtin gene.

188 The CAG repeat expansion in the Huntington's disease gene HTT ex

189 al disorders are linked to tandem nucleotide repeat expansion in the mutated gene.

190 OPMD is caused by a trinucleotide repeat expansion in the PABPN1 gene that results in an N

191 his muscle disease is due to a trinucleotide repeat expansion in the polyA-binding protein nuclear-1

192 ncing to identify a biallelic intronic AAGGG repeat expansion in the replication factor C subunit 1 (

193 is with an intronic (CTG.CAG)n trinucleotide repeat expansion in the TCF4 gene, which is found in the

194 ocytes cell-autonomously, we manipulated the repeat expansion in the variant SCA3 knock-in mouse by c

195 ing sequences have arisen via the process of repeat expansion in this protein.

196 is toxic, and at the DNA level, somatic CAG repeat expansion in vulnerable cells influences the dise

197 rols and identified pathogenic NOTCH2NLC GGC repeat expansions in 4 sporadic ET patients.

198 , such as Huntington's disease (HD), ongoing repeat expansions in affected tissues contribute to dise

199 To study pathogenic mechanisms of CCUG-repeat expansions in an animal model, we created a fly m

200 G4C2 repeat expansions in an intron of C9ORF72 cause the most

201 Hexanucleotide repeat expansions in C9orf72 are the most common cause o

202 GGGGCC repeat expansions in C9ORF72 are the most common genetic

203 How hexanucleotide (GGGGCC) repeat expansions in C9ORF72 cause amyotrophic lateral s

204 How hexanucleotide GGGGCC (G(4)C(2)) repeat expansions in C9orf72 cause frontotemporal dement

205 rotein unconventionally translated from G4C2 repeat expansions in C9ORF72, are abundant in patients w

206 coveries into the pathogenic consequences of repeat expansions in C9ORF72, which are the most common

207 Non-coding repeat expansions in different genes have been recently

208 large inverted segments and short nucleotide repeat expansions in diseases such as hemophilia A, frag

209 Microsatellite repeat expansions in DNA produce pathogenic RNA species

210 Trinucleotide repeat expansions in FMR1 abolish FMRP expression, leadi

211 Huntington disease phenocopies without CAG repeat expansions in HTT are not rare, occurring in 12.4

212 -affected families, implicating that the GGC repeat expansions in NOTCH2NLC could also contribute to

213 Disease-associated repeat expansions in other TFs (HOXA13, RUNX2, and TBP)

214 genetically confirmed carriers of biallelic repeat expansions in RFC1 and identify the sensory neuro

215 Existing methods for detecting repeat expansions in short-read sequencing data require

216 produces toxic polypeptides from nucleotide repeat expansions in the absence of an AUG start codon a

217 Hexanucleotide repeat expansions in the C9ORF72 gene are the commonest

218 Nucleotide repeat expansions in the C9orf72 gene are the most commo

219 Repeat expansions in the C9orf72 gene cause amyotrophic

220 Homozygous GAA trinucleotide repeat expansions in the first intron of FXN occur in 96

221 Here, we report that alanine repeat expansions in the HOXD13 TF, which cause heredita

222 Huntington's disease is caused by CAG repeat expansions in the HTT gene, which encodes the hun

223 disease is often seen in SCA2, and ATXN2 CAG repeat expansions in the long normal range increase ALS

224 We examined the role of repeat expansions in the pathogenesis of frontotemporal

225 n vitro and large-scale trinucleotide (GAA)n repeat expansions in vivo, implying failed phosphate-ste

226 An intronic GGGGCC (G4C2) hexanucleotide repeat expansion inC9orf72 is the most common genetic ca

227 These rare tandem repeat expansions included previously undescribed ASD-li

228 sample had one of eight different pathogenic repeat expansions, including those associated with fragi

229 In addition to MutLgamma, triplet repeat expansion involves the mismatch recognition facto

230 ype 1 (DM1), somatic mosaicism of the (CTG)n repeat expansion is age-dependent, tissue-specific and e

231 This repeat expansion is highly structured, forming a periodi

232 dies show that a primary consequence of G4C2 repeat expansion is the compromise of nucleocytoplasmic

233 In humans, triplet repeat expansion is the molecular basis for ~40 neurolog

234 clease activity, whether that contributes to repeat expansion is uncertain.

235 A gain-of-function of these pathogenic repeat expansions is mediated at least in part by their

236 Patients carrying a C9orf72 repeat expansion leading to frontotemporal dementia and/

237 The C9orf72 hexanucleotide repeat expansion led to haploinsufficiency resulting in

238 functional FAN1 acts to suppress somatic CAG repeat expansion, likely in genetic interaction with oth

239 dren without ASD, which suggests that tandem repeat expansions make a collective contribution to the

240 nt throughout the human genome, and specific repeat expansions may be associated with human diseases.

241 This property is shared with a fly CUG-repeat expansion model.

242 was an early event in FUS as well as C9ORF72 repeat expansion models of ALS, and that serial imaging

243 ohort for CANVAS and identified a novel RFC1 repeat expansion motif, (ACAGG)exp, in three affected in

244 isorder that is caused by CTG microsatellite repeat expansions (MREs) in the 3' untranslated region o

245 (HD) reflects dominant consequences of a CAG repeat expansion mutation in HTT.

246 1 (FMR1), is silenced in most cases by a CGG-repeat expansion mutation in the 5' untranslated region

247 A hexanucleotide repeat expansion mutation in the C9orf72 gene represents

248 Fragile X syndrome (FXS) results from a repeat expansion mutation near the FMR1 gene promoter an

249 erations across neurodegeneration-associated repeat expansion mutations and highlight eRF1 and NMD as

250 n initiation event that occurs at nucleotide-repeat expansion mutations that are associated with seve

251 ights into novel mechanistic pathways of DNA repeat expansion mutations.

252 be the structural intermediates that lead to repeat expansion mutations.

253 ) of a protein associated with polyglutamine repeat expansion, namely Huntingtin, and characterized i

254 cluding nine recently reported non-reference repeat expansions not discoverable via existing methods.

255 We discover repeat expansions not observed in japonica-the rice grou

256 apture method to determine the exact triplet repeat expansion number in the Huntington's gene of geno

257 These introns are defined by simple repeat expansions of complementary AC and GT dimers that

258 m for interaction between the pathogenic RNA repeat expansions of myotonic dystrophy and MBNL1.

259 Repeat expansions of this type have been associated with

260 The Arabian Margin record demonstrates the repeated expansion of ferruginous conditions with the di

261 res of the C9orf72 repeat may participate in repeat expansions or pathogenesis of amyotrophic lateral

262 HOXD13 repeat expansions perturb the composition of HOXD13-cont

263 ve validated that the C9orf72 hexanucleotide repeat expansion products could lead to the accumulation

264 DM1 is caused by an r(CUG) repeat expansion [r(CUG)(exp)] located in the 3' untrans

265 DM2 that expresses pure, uninterrupted CCUG-repeat expansions ranging from 16 to 720 repeats in leng

266 c disorders, and undoubtedly more pathogenic repeat expansions remain to be discovered.

267 Hexanucleotide repeat expansions represent the most common genetic caus

268 The TCF4 triplet repeat expansion resulted in a more severe form of FECD,

269 and efficient elimination of microsatellite repeat expansion RNAs both when exogenously expressed an

270 Genetically, SCAs are grouped as repeat expansion SCAs, such as SCA3/Machado-Joseph disea

271 that is transcribed into r(CUG)(exp) The RNA repeat expansion sequesters regulatory proteins such as

272 The HPF1 repeat expansion shifted yeast cells from a sedentary to

273 enetic screening of FTD/ALS patients for HTT repeat expansions should be considered.

274 s (DPRs) derived from C9orf72 hexanucleotide repeat expansions similarly undergo LLPS and induce phas

275 sis patients carrying C9orf72 hexanucleotide repeat expansion, suggesting the suppression of NMD path

276 s necessitate specific types of test such as repeat expansion testing.

277 Here we analyze RAN translation at G4C2 repeat expansions that cause C9orf72-associated amyotrop

278 ir has been implicated as a cause of triplet repeat expansions that cause neurological diseases such

279 llar ataxia type 3 (SCA3), are caused by CAG repeat expansions that encode abnormally long glutamine

280 repeats derived from C9orf72 hexanucleotide repeat expansion, the most common cause of familial amyo

281 caused by mutant PFN1 as well as by C9ORF72 repeat expansion, the most common mutation in ALS patien

282 r distributing GC-rich human-specific tandem repeat expansions throughout the genome but with a bias

283 were targeted to the C9orf72 hexanucleotide repeat expansion to upregulate normal variant 1 transcri

284 omosomal rearrangements and short nucleotide repeat expansions using engineered nucleases in human in

285 The C9ORF72 repeat expansion was associated with poorer performance

286 Surprisingly, GGC repeat expansion was observed in two Alzheimer disease (

287 extended Belgian families in which a C9orf72 repeat expansion was segregating.

288 logistic regression, the presence of C9ORF72 repeat expansions was the strongest determinant of FTD (

289 Rare tandem repeat expansions were associated with lower IQ and adap

290 oinciding with bursts of transposon-mediated repeat expansions, were crucial for the post-Ss4R redipl

291 f DNA mismatch repair involvement in triplet repeat expansion, which encompasses in vitro biochemical

292 been tested for the presence of the C9orf72 repeat expansion with repeat-primed PCR (RP-PCR).

293 screen using a Drosophila model of the G4C2 repeat expansion with the genes identified from WGS anal

294 e neurodegenerative disorder caused by a CAG repeat expansion within exon 1 of HTT, encoding huntingt

295 d neurodegenerative disorder caused by a CAG repeat expansion within exon 1 of the huntingtin (HTT) g

296 genome sequencing and identified a large GGC repeat expansion within human-specific NOTCH2NLC.

297 r muscular atrophy (SBMA) results from a CAG repeat expansion within the androgen receptor gene (AR).

298 A pathogenic hexanucleotide repeat expansion within the C9orf72 gene has been identi

299 The presence of microsatellite repeat expansions within genes is associated with >30 ne

300 HDAC3 inhibition efficiently suppresses repeat expansion without impeding canonical mismatch rep