ライフサイエンスコーパス: CAG expansion

1 in individuals with CAG expansion vs without CAG expansion.

2 ing premanifest HD individuals who carry the CAG expansion.

3 dary structure is believed to play a role in CAG expansions.

4 ognition task to 475 individuals with the HD CAG expansion and 57 individuals without.

5 longitudinal cohort, 345 (35.1%) carried the CAG expansion and 638 (64.9%) did not.

6 model that harbors a mutant AR gene with 97 CAG expansions and characteristic SBMA-like neurogenic p

7 The diverse clinical phenotypes of ATXN2 CAG expansions and their coexistence in a single family

8 In summary, CTG*CAG expansions are limited by the abundance of MutSbeta

9 To determine the impact of CAG expansion at the molecular level, we have developed

10 Unexpectedly, we discovered that CAG expansion constructs express homopolymeric polygluta

11 whose aberrant resolution will then lead to CAG expansions, contractions, and repeat-mediated chromo

12 orders in which the underlying mutation is a CAG expansion encoding a polyglutamine tract.

13 orders in which the underlying mutation is a CAG expansion encoding a polyglutamine tract.

14 In addition to the length of the CAG expansion, factors such as genetic background have b

15 this technique to clone the pathogenic SCA7 CAG expansion from an archived DNA sample of an individu

16 Baseline comparability between CAG expansion (>/=37 repeats) and nonexpansion (<37 repe

17 5-y-old OVT73-line sheep expressing a human CAG-expansion HTT cDNA transgene.

18 inant neurodegenerative disorder caused by a CAG expansion in the gene-encoding Huntingtin (HTT).

19 erited neurodegenerative disease caused by a CAG expansion in the HTT gene.

20 (HD) is a polyglutamine disorder caused by a CAG expansion in the Huntingtin (HTT) gene exon 1.

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

22 ty to a particular phenotype precipitated by CAG expansion in the Huntington's disease gene.

23 into aggregates in NIID in the absence of a CAG expansion in the SCA1 and SCA3 genes.

24 Polyglutamine diseases are caused by CAG expansions in discrete genes, making them ideal cand

25 CAG expansions in the absence of H4 HATs NuA4 and Hat1 a

26 Abnormal CAG expansions in the IT-15 gene are associated with Hun

27 ssociated with the cytosine-adenine-guanine (CAG) expansion in individuals before diagnosis of Huntin

28 type 2 (SCA2) is caused by a trinucleotide (CAG) expansion in the coding region of the ataxin 2 gene

29 ast to the classic definition of imprinting, CAG expansion is influenced by the gender of the embryo.

30 tle and early functional consequences of the CAG expansion longitudinally.

31 Cloning the causative CAG expansion mutation for this new disease, which we ha

32 Cloning the causative CAG expansion mutation for this new disease, which we ha

33 inant neurodegenerative disorder caused by a CAG expansion mutation in HTT, the gene encoding hunting

34 er region, transcription start site, and the CAG expansion mutation of the mutant HTT gene, resulting

35 The causal mutation is a CTG/CAG expansion mutation on chromosome 16q24.3, in a varia

36 omatic individuals with the Huntingtin (HTT) CAG expansion mutation that causes Huntington's disease

37 der due to a toxic dominant gain-of-function CAG expansion mutation.

38 milar to HD and that arises from a different CAG expansion mutation.

39 milar to HD and that arises from a different CAG expansion mutation.

40 urodegenerative disease caused by a triplet (CAG) expansion mutation.

41 analysis of healthy controls and carriers of CAG expansion mutations in HTT participating in the 3-ye

42 ts for the HD expansion, for all other known CAG expansion mutations, and for linkage to chromosomes

43 ts for the HD expansion, for all other known CAG expansion mutations, and for linkage to chromosomes

44 Confirmation of new CAG-expansion mutations on this haplotype suggests that

45 SCA3, we generated a mouse model in which a CAG expansion of 82 repeats was inserted into the murine

46 Q175 mice express a CAG expansion of the human mutant huntingtin allele in t

47 We blindly screened 20 HD probands with CAG expansions of the HD gene, ranging in size between 1

48 Age-dependent CAG expansion provides a direct molecular link between o

49 Mice heterozygous for the CAG expansion show intergenerational repeat instability

50 the longitudinal analyses, participants with CAG expansions showed significant worsening in motor (0.

51 37, one of the shortest expansions seen in a CAG expansion syndrome.

52 is a neurodegenerative disorder caused by a CAG expansion that results in elongation of the polyglut

53 As for which the genes are known result from CAG expansions that encode polyglutamine tracts.

54 Among the rare CAG expansions, the largest gain in tract size was 38 re

55 8 (SCA8) and myotonic dystrophy type 1 (DM1) CAG expansion transcripts results in the accumulation of

56 st example of a dominant SCA not caused by a CAG expansion translated as a polyglutamine tract.

57 disease mutation status in individuals with CAG expansion vs without CAG expansion.

58 1078 individuals with a CAG expansion were included in this analysis.

59 erative disorder associated with an abnormal CAG expansion, which translates into an expanded polyglu

60 is a neurodegenerative disorder caused by a CAG expansion within the huntingtin gene that encodes a