450 results on '"Rice, Gillian I"'
Search Results
2. Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease
3. A de novo TLR7 gain-of-function mutation causing severe monogenic lupus in an infant
4. JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study
5. Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2
6. Juvenile Neuropsychiatric Systemic Lupus Erythematosus: Identification of Novel Central Neuroinflammation Biomarkers
7. DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling
8. Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement
9. MDA5 gain-of-function associated with a Glu794del mutation.
10. Biallelic mutations in SUPV3L1 cause an inherited neurodevelopmental disorder with variable leukodystrophy due to aberrant mitochondrial double stranded RNA processing
11. Differential levels of IFNα subtypes in autoimmunity and viral infection
12. Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients
13. Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts
14. Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts
15. P156 Type I interferon is raised across connective tissue diseases and is associated with haematological abnormalities and specific autoantibody profiles
16. Type I interferon regulates interleukin-1beta and IL-18 production and secretion in human macrophages
17. Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies
18. cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing
19. Biallelic mutations in NRROS cause an early onset lethal microgliopathy
20. Clinical Reasoning: A 25-year-old woman with recurrent episodes of collapse and loss of consciousness
21. Inheritance of STING mosaicism in two half-siblings.
22. Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling
23. Mitochondrial double-stranded RNA triggers antiviral signalling in humans
24. Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome
25. Complexity in unclassified auto-inflammatory disease: a case report illustrating the potential for disease arising from the allelic burden of multiple variants
26. Type I interferon in patients with systemic autoimmune rheumatic disease is associated with haematological abnormalities and specific autoantibody profiles
27. Characterization of a mutant samhd1 zebrafish model implicates dysregulation of cholesterol biosynthesis in Aicardi-Goutières syndrome
28. PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator–dependent autoimmunity
29. JAK 1/2 Blockade in MDA5 Gain-of-Function
30. Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease
31. Juvenile Neuropsychiatric Systemic Lupus Erythematosus: Identification of Novel Central Neuroinflammation Biomarkers
32. An open-label trial of JAK 1/2 blockade in progressive IFIH1-associated neuroinflammation
33. Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey
34. Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
35. Musculoskeletal Disease in MDA5‐Related Type I Interferonopathy: A Mendelian Mimic of Jaccoudʼs Arthropathy
36. Human Disease Phenotypes Associated With Mutations in TREX1
37. MRSD: a quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease
38. Systemic inflammatory syndrome in children with FARSA deficiency
39. Tartrate‐Resistant Acid Phosphatase Deficiency in the Predisposition to Systemic Lupus Erythematosus
40. Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations
41. The SKIV2L RNA exosome limits activation of the RIG-I-like receptors
42. Aicardi–Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies
43. Stimulator of Interferon Genes–Associated Vasculopathy With Onset in Infancy : A Mimic of Childhood Granulomatosis With Polyangiitis
44. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
45. Enhanced cGAS-STING–dependent interferon signaling associated with mutations in ATAD3A
46. Homozygous N-terminal missense mutation in TRNT1 leads to progressive B-cell immunodeficiency in adulthood
47. HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase
48. Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation
49. Mutations in ADAR1, IFIH1, and RNASEH2B Presenting As Spastic Paraplegia
50. Leukoencephalopathy with Calcifications and Cysts: A Purely Neurological Disorder Distinct from Coats Plus
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