Detalhe da pesquisa
1.
The SKIV2L RNA exosome limits activation of the RIG-I-like receptors.
Nat Immunol
; 15(9): 839-45, 2014 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-25064072
2.
MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease.
Am J Hum Genet
; 109(2): 210-222, 2022 02 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35065709
3.
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease.
J Clin Immunol
; 44(2): 60, 2024 Feb 07.
Artigo
Inglês
| MEDLINE | ID: mdl-38324161
4.
Mitochondrial double-stranded RNA triggers antiviral signalling in humans.
Nature
; 560(7717): 238-242, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30046113
5.
Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts.
Am J Hum Genet
; 106(5): 694-706, 2020 05 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32359472
6.
Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2.
J Clin Immunol
; 43(4): 808-818, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36753016
7.
Lung Transplantation under a Janus Kinase Inhibitor in Three Patients with SAVI Syndrome.
J Clin Immunol
; 43(8): 2156-2164, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37814086
8.
Juvenile Neuropsychiatric Systemic Lupus Erythematosus: Identification of Novel Central Neuroinflammation Biomarkers.
J Clin Immunol
; 43(3): 615-624, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36469191
9.
JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study.
J Clin Immunol
; 43(6): 1436-1447, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37171742
10.
DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling.
J Clin Immunol
; 42(6): 1310-1320, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35670985
11.
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.
J Clin Immunol
; 42(5): 962-974, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35320431
12.
Systemic inflammatory syndrome in children with FARSA deficiency.
Clin Genet
; 101(5-6): 552-558, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35132614
13.
Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies.
J Clin Immunol
; 41(3): 603-609, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33411153
14.
Differential levels of IFNα subtypes in autoimmunity and viral infection.
Cytokine
; 144: 155533, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33941444
15.
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.
Am J Med Genet A
; 185(1): 15-25, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33029936
16.
Human intracellular ISG15 prevents interferon-α/ß over-amplification and auto-inflammation.
Nature
; 517(7532): 89-93, 2015 Jan 01.
Artigo
Inglês
| MEDLINE | ID: mdl-25307056
17.
Cardiac valve involvement in ADAR-related type I interferonopathy.
J Med Genet
; 57(7): 475-478, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-31772029
18.
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Hum Mutat
; 41(4): 837-849, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31898846
19.
Use of ruxolitinib in COPA syndrome manifesting as life-threatening alveolar haemorrhage.
Thorax
; 75(1): 92-95, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31666386
20.
Anti-MDA5 juvenile idiopathic inflammatory myopathy: a specific subgroup defined by differentially enhanced interferon-α signalling.
Rheumatology (Oxford)
; 59(8): 1927-1937, 2020 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31755959