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 severe childhood i

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

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

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

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

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

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

11 Aicardi-Goutieres syndrome is a mendelian mimic of conge

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

52 tations cause the neuroinflammatory disorder Aicardi-Goutieres syndrome.

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

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

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

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

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

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

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

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

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

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

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

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

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

66 endelian autoinflammatory interferonopathies Aicardi-Goutieres syndrome and spondyloenchondrodysplasi

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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