ライフサイエンスコーパス: trinucleotide repeat expansion

1 essive neurodegenerative disorder cause by a trinucleotide repeat expansion.

2 relationship between non-B conformations and trinucleotide repeat expansion.

3 ontribute to the OGG1-dependent mechanism of trinucleotide repeat expansion.

4 es of neurodegenerative diseases caused by a trinucleotide repeat expansion.

5 iptional silencing of the FMR1 gene due to a trinucleotide repeat expansion.

6 polymerase slippage previously proposed for trinucleotide repeat expansion.

7 r HD causative mutations, that is, IT15 gene trinucleotide-repeat expansion.

8 and control data for the detection of other trinucleotide repeat expansions.

9 erative disorder caused by a premutation CGG-trinucleotide repeat expansion (55-200 CGG repeats) with

10 on genetic form of mental retardation, a CGG trinucleotide-repeat expansion adjacent to the fragile X

11 gically important repetitive DNAs, including trinucleotide repeat expansions and homologous gene fami

12 eases caused by a polyglutamine-encoding CAG trinucleotide repeat expansion, and is caused by an expa

13 Trinucleotide repeat expansions are the mutational cause

14 of the general class of human diseases with trinucleotide repeat expansion but also provide an avenu

15 n autosomal dominant fashion and caused by a trinucleotide repeat expansion (CAG) in the gene encodin

16 affecting DNA fragility from those affecting trinucleotide repeat expansion-contraction instability.

17 bility by creating transgenic flies carrying trinucleotide repeat expansions, deriving flies with SCA

18 ponents in RNA-based and polyQ-protein-based trinucleotide repeat expansion diseases.

19 the continued expansions seen in humans with trinucleotide repeat expansion diseases.

20 CTG) repeats since they are also involved in trinucleotide repeat expansion disorders.

21 FECD patient population with this (CTG.CAG)n trinucleotide repeat expansion exceeds that of the combi

22 X syndrome, and myotonic dystrophy-caused by trinucleotide repeat expansions have been identified.

23 Trinucleotide repeat expansions have been implicated in

24 Trinucleotide repeat expansions have been shown to cause

25 ion has been identified recently as a stable trinucleotide repeat expansion in exon 1 of the poly(A)

26 This may have relevance to trinucleotide repeat expansion in human genetic disease.

27 The TGC trinucleotide repeat expansion in TCF4 is strongly assoc

28 is one such condition, resulting from a CGG trinucleotide repeat expansion in the 5' leader sequence

29 a neurodegenerative disorder caused by a CGG trinucleotide repeat expansion in the 5' UTR of the Frag

30 tardation is caused, in most cases, by a CGG trinucleotide repeat expansion in the 5'-untranslated re

31 n almost all cases by homozygosity for a GAA trinucleotide repeat expansion in the frataxin gene.

32 etic, neurological disorder resulting from a trinucleotide repeat expansion in the gene that encodes

33 t neurodegenerative disorder caused by a CAG trinucleotide repeat expansion in the HD gene.

34 e neurodegenerative disorder caused by a CAG trinucleotide repeat expansion in the huntingtin (HTT) g

35 a neurodegenerative disorder caused by a CAG trinucleotide repeat expansion in the huntingtin (HTT) g

36 rative disorder caused by a pathological CAG trinucleotide repeat expansion in the large multi-exon g

37 OPMD is caused by a trinucleotide repeat expansion in the PABPN1 gene that r

38 erative disorder that is the result of a CGG trinucleotide repeat expansion in the range of 55-200 in

39 t association is with an intronic (CTG.CAG)n trinucleotide repeat expansion in the TCF4 gene, which i

40 The involvement of trinucleotide repeat expansions in a number of other dis

41 Patients with FRDA have point mutations or trinucleotide repeat expansions in both alleles of FRDA,

42 taxia (FRDA) is caused by point mutations or trinucleotide repeat expansions in both alleles of the g

43 Trinucleotide repeat expansions in FMR1 abolish FMRP exp

44 Homozygous GAA trinucleotide repeat expansions in the first intron of F

45 set neurodegenerative disorder caused by CGG trinucleotide repeat expansions in the fragile X mental

46 set neurodegenerative disorder caused by CGG trinucleotide repeat expansions in the fragile X mental

47 tardation condition that usually is due to a trinucleotide-repeat expansion in the FMR1 gene.

48 A trinucleotide repeat expansion, inactivating the X-linke

49 Trinucleotide repeat expansion is increasingly recognize

50 the parent-of-origin effect associated with trinucleotide repeat expansion is not known.

51 Trinucleotide repeat expansion is the causative mutation

52 The loss of FMR1 expression due to trinucleotide repeat expansion leads to fragile X syndro

53 Trinucleotide repeat expansions may prove to cause patho

54 vailable parent-child pairs, suggesting that trinucleotide-repeat expansion may be the mutagenic mech

55 n found to be caused by heterozygosity for a trinucleotide repeat expansion mutation in the 3' untran

56 two Huntington disease patients showed that trinucleotide repeat expansion mutations were present be

57 onsistent features of the diseases caused by trinucleotide repeat expansion-neuropsychiatric symptoms

58 ng the germ-line cell compartments where the trinucleotide repeat expansions occur could help to eluc

59 duals, and no tested unaffecteds, have a CAG trinucleotide repeat expansion of 50 to 60 triplets, as

60 duals, and no tested unaffecteds, have a CAG trinucleotide repeat expansion of 50 to 60 triplets, as

61 A linear increase in trinucleotide repeat expansion of homologous CAG and GGC

62 Fragile X syndrome is caused by a CGG trinucleotide repeat expansion of the FMR1 gene.

63 Disease alleles contain a trinucleotide repeat expansion of variable length, which

64 re few studies on the effect of pre-mutation trinucleotide repeat expansion on the male human brain u

65 l dominant, progressive disease, arises from trinucleotide repeat expansions present in the coding re

66 reich's ataxia were investigated for the GAA trinucleotide repeat expansion recently found within the

67 Huntington's disease is caused by a CAG trinucleotide repeat expansion that is translated into a

68 ne of 10 known diseases caused by a (CAG)(n) trinucleotide repeat expansion that is translated into a

69 hile the etiology of HD is known to be a CAG trinucleotide repeat expansion, the pathways by which th

70 hile the etiology of HD is known to be a CAG trinucleotide repeat expansion, the pathways by which th

71 Trinucleotide repeat expansion thus may be acting in the

72 Thus, our data link trinucleotide-repeat expansion to a form of RNA-directed

73 Trinucleotide repeat expansions (TREs) are a recently de

74 Trinucleotide repeat expansion underlies at least 17 neu

75 The mechanisms of trinucleotide repeat expansions, underlying more than a

76 t with the idea that MSH2 may participate in trinucleotide repeat expansion via its role in repair an

77 Because several other SCA subtypes show trinucleotide repeat expansions, we examined microsatell

78 trophy or Kennedy disease is caused by a CAG trinucleotide repeat expansion within the androgen recep