ライフサイエンスコーパス: Aicardi

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

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

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

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

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

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

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

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

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

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

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

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

13 Aicardi-Goutieres syndrome and proteasome-associated aut

14 Aicardi-Goutieres syndrome is a mendelian mimic of conge

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

33 genetic cerebral interferonopathies such as Aicardi-Goutieres syndrome.

34 on, including OFD1 and SED tarda, as well as Aicardi syndrome and Goltz syndrome.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

71 nction causes the neurodegenerative disease, Aicardi Goutieres Syndrome.

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

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

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

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

76 tations cause the neuroinflammatory disorder Aicardi-Goutieres syndrome.

77 ews on cortical visual impairment, dyslexia, Aicardi syndrome, and neuronal ceroid lipofuscinosis are

78 determined that it is not mutated in either Aicardi or Goltz syndrome, two X-linked dominant conditi

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

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

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

82 When RNase H2 is compromised, such as in Aicardi-Goutieres patients, genomic ribonucleotides eith

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

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

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

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

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

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

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

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

91 ve been mapped to the Xp22 region, including Aicardi syndrome (MIM 304050), Rett syndrome (MIM 312750

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

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

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

95 endelian autoinflammatory interferonopathies Aicardi-Goutieres syndrome and spondyloenchondrodysplasi

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

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

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

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

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

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

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

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

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

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

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

107 ral nervous system manifestations resembling Aicardi-Goutieres syndrome.

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

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

110 pattern has been proposed for Rett syndrome, Aicardi syndrome and microphthalmia with linear skin def

111 D domain protein SAMHD1 is implicated in the Aicardi-Goutieres autoimmune syndrome and in the restric

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

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

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

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

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

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

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

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

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