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Mutations in the non-catalytic polyproline motif destabilize TREX1 and amplify cGAS-STING signaling.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 18, p. 1555, doi. 10.1093/hmg/ddae089
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- Publication type:
- Article
Aicardi-Goutières syndrome and the type I interferonopathies.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Aicardi-Goutières syndrome and the type I interferonopathies.
- Published in:
- Nature Reviews Immunology, 2015, v. 15, n. 7, p. 429, doi. 10.1038/nri3850
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- Publication type:
- Article
Cerebral Microangiopathy in Leukoencephalopathy With Cerebral Calcifications and Cysts: A Pathological Description.
- Published in:
- Journal of Child Neurology, 2021, v. 36, n. 2, p. 133, doi. 10.1177/0883073820958330
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- Publication type:
- Article
Type I interferonopathies: a novel set of inborn errors of immunity.
- Published in:
- Annals of the New York Academy of Sciences, 2011, v. 1238, n. 1, p. 91, doi. 10.1111/j.1749-6632.2011.06220.x
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- Publication type:
- Article
Rheumatoid factor positive polyarticular juvenile idiopathic arthritis associated with a novel COPA mutation.
- Published in:
- Rheumatology, 2021, v. 60, n. 5, p. e171, doi. 10.1093/rheumatology/keaa763
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- Publication type:
- Article
Inhibition of IFNα secretion in cells from patients with juvenile dermatomyositis under TBK1 inhibitor treatment revealed by single-molecular assay technology.
- Published in:
- 2020
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- Publication type:
- Correction Notice
Inhibition of IFNα secretion in cells from patients with juvenile dermatomyositis under TBK1 inhibitor treatment revealed by single-molecular assay technology.
- Published in:
- Rheumatology, 2020, v. 59, n. 5, p. 1171, doi. 10.1093/rheumatology/kez508
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- Publication type:
- Article
Aicardi-Goutières syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. R2, p. R130, doi. 10.1093/hmg/ddp293
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- Publication type:
- Article
A child with severe juvenile dermatomyositis treated with ruxolitinib.
- Published in:
- 2018
- By:
- Publication type:
- letter
NOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature Review.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 5, p. 2864, doi. 10.3390/ijms25052864
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- Publication type:
- Article
Biallelic mutations in NRROS cause an early onset lethal microgliopathy.
- Published in:
- Acta Neuropathologica, 2020, v. 139, n. 5, p. 947, doi. 10.1007/s00401-020-02137-7
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- Publication type:
- Article
HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase.
- Published in:
- Nature, 2011, v. 480, n. 7377, p. 379, doi. 10.1038/nature10623
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- Publication type:
- Article
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 4, p. 381, doi. 10.1038/ejhg.2011.220
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- Publication type:
- Article
Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 18, doi. 10.1038/ejhg.2010.136
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- Publication type:
- Article
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
- Published in:
- Nature Genetics, 2008, v. 40, n. 9, p. 1113, doi. 10.1038/ng.204
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- Publication type:
- Article
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation.
- Published in:
- Nature Genetics, 2008, v. 40, n. 9, p. 1119, doi. 10.1038/ng.199
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- Publication type:
- Article
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
- Published in:
- Nature Genetics, 2006, v. 38, n. 8, p. 910, doi. 10.1038/ng1842
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- Publication type:
- Article
Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.
- Published in:
- Nature Genetics, 2006, v. 38, n. 8, p. 917, doi. 10.1038/ng1845
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- Publication type:
- Article
The eukaryotic elongation factor eEF1A1 interacts with SAMHD1.
- Published in:
- Biochemical Journal, 2015, v. 466, n. 1, p. 69, doi. 10.1042/BJ20140203
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- Publication type:
- Article
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGS.
- Published in:
- Arthritis & Rheumatology, 2022, v. 74, n. 5, p. 735, doi. 10.1002/art.42087
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- Publication type:
- Article
Circulating Interferon‐α Measured With a Highly Sensitive Assay as a Biomarker for Juvenile Inflammatory Myositis Activity: Comment on the Article by Mathian et al.
- Published in:
- Arthritis & Rheumatology, 2020, v. 72, n. 1, p. 195, doi. 10.1002/art.41096
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- Publication type:
- Article
Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy.
- Published in:
- Arthritis & Rheumatology, 2017, v. 69, n. 10, p. 2081, doi. 10.1002/art.40179
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- Publication type:
- Article
Brief Report: Blockade of TANK-Binding Kinase 1/IKKɛ Inhibits Mutant Stimulator of Interferon Genes (STING)-Mediated Inflammatory Responses in Human Peripheral Blood Mononuclear Cells.
- Published in:
- Arthritis & Rheumatology, 2017, v. 69, n. 7, p. 1495, doi. 10.1002/art.40122
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- Publication type:
- Article
Tartrate-Resistant Acid Phosphatase Deficiency in the Predisposition to Systemic Lupus Erythematosus.
- Published in:
- Arthritis & Rheumatology, 2017, v. 69, n. 1, p. 131, doi. 10.1002/art.39810
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- Publication type:
- Article
Reply.
- Published in:
- Arthritis & Rheumatology, 2014, v. 66, n. 1, p. 229, doi. 10.1002/art.38234
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- Publication type:
- Article
Stimulator of Interferon Genes-Associated Vasculopathy With Onset in Infancy: A Mimic of Childhood Granulomatosis With Polyangiitis.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Stimulator of Interferon Genes-Associated Vasculopathy With Onset in Infancy.
- Published in:
- JAMA Dermatology, 2015, v. 151, n. 8, p. 872, doi. 10.1001/jamadermatol.2015.0251
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- Publication type:
- Article
Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 5, p. 423, doi. 10.1111/cge.13761
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- Publication type:
- Article
STING-Mediated Lung Inflammation and Beyond.
- Published in:
- Journal of Clinical Immunology, 2021, v. 41, n. 3, p. 501, doi. 10.1007/s10875-021-00974-z
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- Publication type:
- Article
DDX58 and Classic Singleton-Merten Syndrome.
- Published in:
- Journal of Clinical Immunology, 2019, v. 39, n. 1, p. 75, doi. 10.1007/s10875-018-0572-1
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- Publication type:
- Article
JAK 1/2 Blockade in MDA5 Gain-of-Function.
- Published in:
- Journal of Clinical Immunology, 2018, v. 38, n. 8, p. 844, doi. 10.1007/s10875-018-0563-2
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- Publication type:
- Article
A Brief Historical Perspective on the Pathological Consequences of Excessive Type I Interferon Exposure In vivo.
- Published in:
- Journal of Clinical Immunology, 2018, v. 38, n. 6, p. 694, doi. 10.1007/s10875-018-0543-6
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- Publication type:
- Article
International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity.
- Published in:
- Journal of Clinical Immunology, 2018, v. 38, n. 1, p. 96, doi. 10.1007/s10875-017-0464-9
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- Publication type:
- Article
The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies.
- Published in:
- Journal of Clinical Immunology, 2018, v. 38, n. 1, p. 129, doi. 10.1007/s10875-017-0465-8
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- Publication type:
- Article
The story of DNase II: A stifled death-wish leads to self-harm.
- Published in:
- European Journal of Immunology, 2010, v. 40, n. 9, p. 2376, doi. 10.1002/eji.201040829
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- Publication type:
- Article
ASPM is a major determinant of cerebral cortical size.
- Published in:
- Nature Genetics, 2002, v. 32, n. 2, p. 316, doi. 10.1038/ng995
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- Publication type:
- Article
The SKIV2L RNA exosome limits activation of the RIG-I-like receptors.
- Published in:
- Nature Immunology, 2014, v. 15, n. 9, p. 839, doi. 10.1038/ni.2948
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- Publication type:
- Article
Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations.
- Published in:
- Journal of Clinical Investigation, 2014, v. 124, n. 12, p. 5516, doi. 10.1172/JCI79100
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- Publication type:
- Article
Cutaneous histopathological findings of Aicardi–Goutières syndrome, overlap with chilblain lupus.
- Published in:
- Journal of Cutaneous Pathology, 2008, v. 35, n. 8, p. 774, doi. 10.1111/j.1600-0560.2007.00900.x
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- Publication type:
- Article
Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3.
- Published in:
- 2011
- By:
- Publication type:
- Other
Severe neonatal-onset panniculitis in a female infant with Prader-Willi syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3087, doi. 10.1002/ajmg.a.34318
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- Publication type:
- Article
Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 235, doi. 10.1002/ajmg.a.33778
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- Publication type:
- Article
Degos Disease.
- Published in:
- American Journal of Clinical Pathology, 2011, v. 135, n. 4, p. 599, doi. 10.1309/AJCP66QIMFARLZKI
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- Publication type:
- Article
Aicardi-Goutières syndrome: description of a late onset case.
- Published in:
- Developmental Medicine & Child Neurology, 2008, v. 50, n. 8, p. 631, doi. 10.1111/j.1469-8749.2008.03033.x
- By:
- Publication type:
- Article
Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection.
- Published in:
- Developmental Medicine & Child Neurology, 2008, v. 50, n. 6, p. 410, doi. 10.1111/j.1469-8749.2008.02062.x
- By:
- Publication type:
- Article
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. E530, doi. 10.1002/humu.20975
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- Publication type:
- Article
Human life within a narrow range: The lethal ups and downs of type I interferons.
- Published in:
- Science Immunology, 2024, v. 9, n. 97, p. 1, doi. 10.1126/sciimmunol.adm8185
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- Publication type:
- Article
Inflammatory profiles across the spectrum of disease reveal a distinct role for GM-CSF in severe COVID-19.
- Published in:
- Science Immunology, 2021, v. 6, n. 57, p. 1, doi. 10.1126/sciimmunol.abg9873
- By:
- Publication type:
- Article