ライフサイエンスコーパス: Aicardi-Goutieres syndrome

1 nction causes the neurodegenerative disease, Aicardi Goutieres Syndrome.

2 to pathogenesis of immune disorders, such as Aicardi-Goutieres syndrome.

3 genetic cerebral interferonopathies such as Aicardi-Goutieres syndrome.

4 utoimmunity in the Trex1(-/-) mouse model of Aicardi-Goutieres syndrome.

5 erferon in macrophages from a mouse model of Aicardi-Goutieres syndrome.

6 mental and inflammatory disease of children, Aicardi-Goutieres syndrome.

7 une disease in the Trex1(-/-) mouse model of Aicardi-Goutieres Syndrome.

8 GAS) was described and potentially linked to Aicardi-Goutieres syndrome.

9 a number of autoimmune disorders, including Aicardi-Goutieres syndrome.

10 d the human autoimmune/inflammatory disorder Aicardi-Goutieres syndrome.

11 s, and rare monogenic IFNopathies, including Aicardi-Goutieres syndrome.

12 ogenesis of chronic lymphocytic leukemia and Aicardi-Goutieres syndrome.

13 nical disorders familial chilblain lupus and Aicardi-Goutieres syndrome.

14 the type I IFN-associated autoimmune disease Aicardi-Goutieres syndrome.

15 onset multisystem inflammatory disease, and Aicardi-Goutieres syndrome.

16 tations cause the neuroinflammatory disorder Aicardi-Goutieres syndrome.

17 Mutations in the human RNase H2 genes cause Aicardi-Goutieres syndrome.

18 ic residue in TREX1, that results in typical Aicardi-Goutieres syndrome.

19 rom 13 families with a clinical diagnosis of Aicardi-Goutieres syndrome.

20 icient resting CD4 T cells of a patient with Aicardi-Goutieres syndrome.

21 ne deaminase ADAR1, mutations in which cause Aicardi-Goutieres syndrome.

22 ral nervous system manifestations resembling Aicardi-Goutieres syndrome.

23 sine deaminase acting on RNA 1 (ADAR1) cause Aicardi-Goutieres syndrome 6 (AGS6); a severe auto-infla

24 Mutations in SAMHD1 cause Aicardi-Goutieres syndrome, a disease that produces a ph

25 Mutations in the SAMHD1 gene cause Aicardi-Goutieres syndrome, a genetic disease that mimic

26 ate and is frequently mutated in cancers and Aicardi-Goutieres syndrome, a hereditary autoimmune ence

27 e causes a severe neuroinflammatory disease, Aicardi Goutieres syndrome (AGS).

28 leukemia (CLL) and the autoimmune condition Aicardi Goutieres syndrome (AGS).

29 X1) gene mutations have been associated with Aicardi-Goutieres Syndrome (AGS) - a rare, severe pediat

30 Mutations in the TREX1 gene cause Aicardi-Goutieres syndrome (AGS) and are linked to the a

31 Mutations in the human trex1 gene cause Aicardi-Goutieres syndrome (AGS) and chilblain lupus, bu

32 seases such as systemic lupus erythematosus, Aicardi-Goutieres syndrome (AGS) and familial chilblain

33 lupus, and autoinflammatory diseases such as Aicardi-Goutieres syndrome (AGS) and STING associated va

34 ncluding systemic lupus erythematosus (SLE), Aicardi-Goutieres syndrome (AGS) and STING-associated va

35 of-function mutations of TREX1 are linked to Aicardi-Goutieres Syndrome (AGS) and systemic lupus eryt

36 Autoimmune diseases, including Aicardi-Goutieres syndrome (AGS) and systemic lupus eryt

37 The neuroinflammatory autoimmune disease Aicardi-Goutieres syndrome (AGS) develops from mutations

38 Aicardi-Goutieres syndrome (AGS) is a genetic encephalop

39 Aicardi-Goutieres syndrome (AGS) is a genetically determ

40 Aicardi-Goutieres syndrome (AGS) is a monogenic inflamma

41 Aicardi-Goutieres syndrome (AGS) is a monogenic type I i

42 Aicardi-Goutieres syndrome (AGS) is a progressive geneti

43 Aicardi-Goutieres syndrome (AGS) is a severe childhood i

44 Aicardi-Goutieres syndrome (AGS) is an autosomal recessi

45 Aicardi-Goutieres syndrome (AGS) is an autosomal-recessi

46 Aicardi-Goutieres syndrome (AGS) is an inflammatory diso

47 Aicardi-Goutieres syndrome (AGS) is an inflammatory ence

48 DNA-induced autoinflammatory responses in an Aicardi-Goutieres syndrome (AGS) mouse model and reduced

49 ion can result in interferonopathies such as Aicardi-Goutieres Syndrome (AGS) or other lupus-like aut

50 ly suppress self-DNA-induced autoimmunity in Aicardi-Goutieres syndrome (AGS) patient cells and in an

51 Aicardi-Goutieres syndrome (AGS) presents as a severe ne

52 Aicardi-Goutieres syndrome (AGS) provides a monogenic mo

53 ivity causes the severe inflammatory disease Aicardi-Goutieres syndrome (AGS)(2).

54 SAMHD1 have been described in patients with Aicardi-Goutieres syndrome (AGS), a congenital autoimmun

55 humans, RNase H2 hypomorphic mutations cause Aicardi-Goutieres syndrome (AGS), a neuroinflammatory di

56 ance enzyme ribonuclease H2 (RNase H2) cause Aicardi-Goutieres syndrome (AGS), a pediatric disorder t

57 encodes the ADAR1 RNA-editing enzyme, cause Aicardi-Goutieres syndrome (AGS), a severe autoimmune di

58 Mutations in ADAR1 cause Aicardi-Goutieres Syndrome (AGS), an autoinflammatory sy

59 s encoding the three RNase H2 subunits cause Aicardi-Goutieres syndrome (AGS), an early-onset inflamm

60 n 3' repair exonuclease 1 (Trex1) gene cause Aicardi-Goutieres syndrome (AGS), an IFN-associated auto

61 SAMHD1 is also associated with Aicardi-Goutieres syndrome (AGS), an inflammatory enceph

62 he SAMHD1 (AGS5) gene cause a severe form of Aicardi-Goutieres syndrome (AGS), an inherited inflammat

63 s a hallmark of the inherited encephalopathy Aicardi-Goutieres syndrome (AGS), but the mechanisms tri

64 ctrum of human autoimmune diseases including Aicardi-Goutieres syndrome (AGS), familial chilblain lup

65 ons in human RNASEH2B and RNASEH2C linked to Aicardi-Goutieres Syndrome (AGS), only one, R69W in the

66 By enzymatically characterizing Aicardi-Goutieres syndrome (AGS)-associated SAMHD1 mutat

67 uding systemic lupus erythematosus (SLE) and Aicardi-Goutieres syndrome (AGS).

68 known as ADAR) cause the autoimmune disorder Aicardi-Goutieres syndrome (AGS).

69 ng the heterotrimeric RNase H2 complex cause Aicardi-Goutieres Syndrome (AGS).

70 opment of a type I interferonopathy known as Aicardi-Goutieres syndrome (AGS).

71 DAR1, cause human immune diseases, including Aicardi-Goutieres syndrome (AGS).

72 Mutation in RNASEH2 causes Aicardi-Goutieres syndrome, an auto-inflammatory disorde

73 ive ADAR1 editing leads to disorders such as Aicardi-Goutieres syndrome, an autoinflammatory disease

74 RNase H2 mutations cause Aicardi-Goutieres syndrome, an inflammatory condition cl

75 gene are being linked to the development of Aicardi-Goutieres syndrome, an inflammatory disease of t

76 (Trex1) cause the rare autoimmune condition Aicardi-Goutieres syndrome and are associated with syste

77 SAMHD1 mutations cause autoimmune Aicardi-Goutieres syndrome and are found in cancers incl

78 type I interferon (IFN) responses, including Aicardi-Goutieres syndrome and bilateral striatal necros

79 onuclease that degrades cytosolic DNA, cause Aicardi-Goutieres syndrome and chilblain lupus.

80 gest the existence of locus heterogeneity in Aicardi-Goutieres syndrome and highlight potential diffi

81 s are associated with the autoimmune disease Aicardi-Goutieres syndrome and hypermutated cancers.

82 terized cases of the type I interferonopathy Aicardi-Goutieres syndrome and of other undefined neurol

83 Aicardi-Goutieres syndrome and proteasome-associated aut

84 AS inhibitors may be useful therapeutics for Aicardi-Goutieres syndrome and related autoimmune diseas

85 Inflammatory diseases such as Aicardi-Goutieres syndrome and severe systemic lupus ery

86 own etiology; these diseases, exemplified by Aicardi-Goutieres syndrome and some viral encephalopathi

87 endelian autoinflammatory interferonopathies Aicardi-Goutieres syndrome and spondyloenchondrodysplasi

88 scribed in type 1 interferonopathies such as Aicardi-Goutieres syndrome and stimulator of IFN genes-a

89 on cause autoinflammatory conditions such as Aicardi-Goutieres syndrome and STING-associated vasculop

90 These monogenic phenotypes include classic Aicardi-Goutieres syndrome and syndromic forms of system

91 X1 mutants linked to the autoimmune diseases Aicardi-Goutieres syndrome and systemic lupus erythemato

92 sociated vasculopathy with onset in infancy, Aicardi-Goutieres syndrome, and proteasome-associated au

93 athogenesis of the severe autoimmune disease Aicardi-Goutieres syndrome, and the resistance developed

94 f cGAS underpins interferonopathies, such as Aicardi-Goutieres syndrome, as well as Lupus and neurode

95 mutations in TREX1 have been shown to cause Aicardi-Goutieres syndrome at the AGS1 locus.

96 One form of Aicardi-Goutieres syndrome caused by inactivating mutati

97 mutations in the human TREX1 gene can cause Aicardi-Goutieres syndrome, characterized by perturbed i

98 for disorders that share features with SLE--Aicardi-Goutieres syndrome, chilblain lupus, and spondyl

99 ausative mutations in the autoimmune disease Aicardi-Goutieres syndrome demonstrate that ablating the

100 TREX1-D200N, an Aicardi-Goutieres syndrome disease-causing mutant, is de

101 and Asp-200 in familial chilblain lupus and Aicardi-Goutieres syndrome elicit dominant immune dysfun

102 level chronic DNA damage in mice lacking the Aicardi-Goutieres syndrome gene SAMHD1 reduced tumor-fre

103 d-onset dystonia parkinsonism, Fahr disease, Aicardi-Goutieres syndrome, Hallervorden-Spatz syndrome,

104 providing new clues as to the development of Aicardi-Goutieres syndrome in the neural system.

105 lease 1 (TREX1) cause the lupus-like disease Aicardi-Goutieres syndrome in which accumulation of a ye

106 Aicardi-Goutieres syndrome is a mendelian mimic of conge

107 i-GABA(A) receptor encephalitis (n = 1), and Aicardi-Goutieres syndrome (n = 1).

108 dispose of endogenous nucleic acid debris in Aicardi-Goutieres syndrome results in inappropriate trig

109 Interestingly, Aicardi-Goutieres syndrome shows overlap with systemic l

110 ssociated with the severe autoimmune disease Aicardi-Goutieres syndrome that increases penetration of

111 terized cases of the type I interferonopathy Aicardi-Goutieres syndrome, we identified biallelic muta

112 IFN) responses have been documented to cause Aicardi-Goutieres syndrome, which is a cause of PTS.

113 implications for understanding the basis of Aicardi-Goutieres syndrome, which stems from inactivatio