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

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

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

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

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

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

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

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

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

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

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

11 tations cause the neuroinflammatory disorder Aicardi-Goutieres syndrome.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

61 endelian autoinflammatory interferonopathies Aicardi-Goutieres syndrome and spondyloenchondrodysplasi

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

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

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

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

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

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

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

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

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

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

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

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

74 Aicardi-Goutieres syndrome is a mendelian mimic of conge

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

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

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

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