Works matching DE "AICARDI-Goutieres syndrome"
Results: 76
Molecular dynamics characterization of the SAMHD1 Aicardi-Goutières Arg145Gln mutant: structural determinants for the impaired tetramerization.
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- Journal of Computer-Aided Molecular Design, 2018, v. 32, n. 5, p. 623, doi. 10.1007/s10822-018-0115-0
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- Article
Rare ADAR and RNASEH2B variants and a type I interferon signature in glioma and prostate carcinoma risk and tumorigenesis.
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- Acta Neuropathologica, 2017, v. 134, n. 6, p. 905, doi. 10.1007/s00401-017-1774-y
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- Article
Aicardi- Goutières syndrome: a model disease for systemic autoimmunity.
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- Clinical & Experimental Immunology, 2014, v. 175, n. 1, p. 17, doi. 10.1111/cei.12160
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- Article
Mouse models for Aicardi- Goutières syndrome provide clues to the molecular pathogenesis of systemic autoimmunity.
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- Clinical & Experimental Immunology, 2014, v. 175, n. 1, p. 9, doi. 10.1111/cei.12147
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- Article
Therapies in Aicardi- Goutières syndrome.
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- Clinical & Experimental Immunology, 2014, v. 175, n. 1, p. 1, doi. 10.1111/cei.12115
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- Article
Systemic lupus erythematosus due to C1q deficiency with progressive encephalopathy, intracranial calcification and acquired moyamoya cerebral vasculopathy.
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- Lupus, 2013, v. 22, n. 6, p. 639, doi. 10.1177/0961203313486950
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- Article
A Novel Familial Case Report of Genetic Syndrome Mimicking Congenital TORCH infections; Pseudo-TORCH Syndrome 2.
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- Journal of Reproduction & Infertility, 2022, n. 2, p. 135, doi. 10.18502/jri.v23i2.8999
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- Article
Type I interferonopathies in pediatric rheumatology.
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- Pediatric Rheumatology, 2016, v. 14, p. 1, doi. 10.1186/s12969-016-0094-4
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- Article
SAMHD1: mechanisms of regulation and viral evasion.
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- Virologie, 2018, v. 22, n. 4, p. E29, doi. 10.1684/vir.2018.0741
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- Article
Single-stranded nucleic acids promote SAMHD1 complex formation.
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- Journal of Molecular Medicine, 2013, v. 91, n. 6, p. 759, doi. 10.1007/s00109-013-0995-3
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- Article
Aicardi-Goutières syndrome and the type I interferonopathies.
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- Nature Reviews Immunology, 2015, v. 15, n. 7, p. 429, doi. 10.1038/nri3850
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- Article
Interferon- α and the calcifying microangiopathy in Aicardi-Goutières syndrome.
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- Annals of Clinical & Translational Neurology, 2015, v. 2, n. 7, p. 774, doi. 10.1002/acn3.213
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- Article
Early onset, cold-induced lupus erythematosus panniculitis.
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- 2014
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- Case Study
Ribonuclease L mediates the cell-lethal phenotype of double-stranded RNA editing enzyme ADAR1 deficiency in a human cell line.
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- eLife, 2017, p. 1, doi. 10.7554/eLife.25687
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- Article
Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome.
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- eLife, 2015, p. 1, doi. 10.7554/eLife.08007
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- Article
Extensive intracranial calcification of pseudo-TORCH syndrome with features of Dandy-Walker malformation.
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- Asian Journal of Neurosurgery, 2017, v. 12, n. 3, p. 541, doi. 10.4103/1793-5482.145162
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- Article
Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.
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- British Journal of Dermatology, 2015, v. 173, n. 6, p. 1505, doi. 10.1111/bjd.14073
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- Article
Chilblain lesions associated with inherited autoimmune disease.
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- British Journal of Dermatology, 2015, v. 173, n. 6, p. 1369, doi. 10.1111/bjd.14210
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- Article
Type I Interferonopathies in Childhood.
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- Balkan Medical Journal, 2023, v. 40, n. 3, p. 165, doi. 10.4274/balkanmedj.galenos.2023.2023-4-78
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- Article
Anaesthetic Management of a Patient with Pseudo-TORCH Syndrome.
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- Balkan Medical Journal, 2013, v. 30, n. 3, p. 321, doi. 10.5152/balkanmedj.2013.6960
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- Article
Aicardi-Goutières Syndrome Type 1: A Novel Missense Variant and Review of the Mutational Spectrum.
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- Iranian Journal of Child Neurology, 2024, v. 18, n. 3, p. 117, doi. 10.22037/ijcn.v18i3.43274
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- Article
Leukodystrophies with Intracranial Calcifications.
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- Iranian Journal of Child Neurology, 2014, v. 8, n. 4, p. 16
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- Article
A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands.
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- Acta Paediatrica, 2012, v. 101, n. 11, p. e509, doi. 10.1111/j.1651-2227.2012.02807.x
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- Article
Novel RNASET2 Pathogenic Variants in an East Asian Child with Delayed Psychomotor Development.
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- Fetal & Pediatric Pathology, 2018, v. 37, n. 1, p. 15, doi. 10.1080/15513815.2017.1388456
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- Article
Heterozygous TREX1 mutations in early-onset cerebrovascular disease.
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- 2013
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- Publication type:
- Letter
Sources of Pathogenic Nucleic Acids in Systemic Lupus Erythematosus.
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- Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.01028
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- Article
Cochlear impairment and autoimmune ear disorder in a patient with breast cancer.
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- Audiology Research, 2017, v. 7, n. 1, p. 23, doi. 10.4081/audiores.2017.165
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- Article
A nationwide survey of Aicardi–Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.
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- Rheumatology, 2014, v. 53, n. 3, p. 448, doi. 10.1093/rheumatology/ket372
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- Article
Unusual Association of Aniridia with Aicardi-Goutières Syndrome-Related Congenital Glaucoma in a Tertiary Care Center.
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- American Journal of Case Reports, 2018, v. 19, p. 500, doi. 10.12659/AJCR.908036
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- Article
Microglial Interferon Signaling and White Matter.
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- Neurochemical Research, 2017, v. 42, n. 9, p. 2625, doi. 10.1007/s11064-017-2307-8
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- Article
The ribonuclease activity of SAMHD1 is required for HIV-1 restriction.
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- Nature Medicine, 2014, v. 20, n. 8, p. 936, doi. 10.1038/nm.3626
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- Article
Family History of Autoimmune Disease in Patients with Aicardi-Goutières Syndrome.
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- Clinical & Developmental Immunology, 2012, p. 1, doi. 10.1155/2012/206730
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- Article
Autosomal dominant IFIH1 gain-of-function mutations cause Aicardi-Goutières syndrome.
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- Clinical Genetics, 2014, v. 86, n. 5, p. 473, doi. 10.1111/cge.12471
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- Article
Exploring Autoimmunity in a Cohort of Children with Genetically Confirmed Aicardi-Goutières Syndrome.
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- Journal of Clinical Immunology, 2016, v. 36, n. 7, p. 693, doi. 10.1007/s10875-016-0325-y
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- Article
Human Disease Phenotypes Associated With Mutations in TREX1.
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- Journal of Clinical Immunology, 2015, v. 35, n. 3, p. 235, doi. 10.1007/s10875-015-0147-3
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- Article
STING-mediated autoinflammatory disease.
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- Nature Genetics, 2014, v. 46, n. 9, p. 933, doi. 10.1038/ng.3082
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- Article
Synaptopathies: synaptic dysfunction in neurological disorders - A review written by students for students, and a story of success for ISN schools.
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- 2016
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- Publication type:
- Editorial
Defective removal of ribonucleotides from DNA promotes systemic autoimmunity.
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- Journal of Clinical Investigation, 2015, v. 125, n. 1, p. 413, doi. 10.1172/JCI78001
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- Article
AGS, SLE, and RNASEH2 mutations: translating insights into therapeutic advances.
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- Journal of Clinical Investigation, 2015, v. 125, n. 1, p. 102, doi. 10.1172/jci78533
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- Article
Aicardi-Goutieres syndrome: A genetic disorder which mimics congenital intrauterine infection.
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- 2013
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- Publication type:
- Letter
RNASEH2B pathogenic mutation presenting with pure, Apparently Non-Progressive hereditary spastic paraparesis.
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- 2023
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- Publication type:
- Case Study
Different clinical manifestations of three prime repair exonuclease 1 mutation: A case series.
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- Annals of Indian Academy of Neurology, 2020, v. 23, n. 5, p. 699, doi. 10.4103/aian.AIAN_469_18
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- Publication type:
- Article
Recurrent Encephalopathy with Spinal Cord Involvement: An Atypical Manifestation of Aicardi-Goutières Syndrome.
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- Annals of Indian Academy of Neurology, 2019, v. 22, n. 1, p. 111, doi. 10.4103/aian.AIAN_12_18
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- Publication type:
- Article
Aicardi–Goutières syndrome: Brief case report.
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- Journal of Pediatric Neurosciences, 2018, v. 13, n. 1, p. 88, doi. 10.4103/JPN.JPN_67_17
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- Article
Erratum.
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- 2013
- Publication type:
- Erratum
Magnetoencephalography Reveals a Unique Neurophysiological Profile of Focal-Onset Epileptic Spasms.
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- Tohoku Journal of Experimental Medicine, 2013, v. 229, n. 2, p. 147, doi. 10.1620/tjem.229.147
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- Publication type:
- Article
ADAR RNA editing in human disease; more to it than meets the I.
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- Human Genetics, 2017, v. 136, n. 9, p. 1265, doi. 10.1007/s00439-017-1837-0
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- Publication type:
- Article
A novel <italic>IFIH1</italic> mutation in the pincer domain underlies the clinical features of both Aicardi–Goutières and Singleton–Merten syndromes in a single patient.
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- British Journal of Dermatology, 2018, v. 178, n. 2, p. e111, doi. 10.1111/bjd.15869
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- Publication type:
- Article
ID3 may protect mice from anti-GBM glomerulonephritis by regulating the differentiation of Th17 and Treg cells.
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- Molecular Medicine Reports, 2017, v. 16, n. 6, p. 9086, doi. 10.3892/mmr.2017.7724
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- Article
The genetics of juvenile idiopathic arthritis: Searching for new susceptibility loci.
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- Molecular Medicine Reports, 2017, v. 16, n. 6, p. 8793, doi. 10.3892/mmr.2017.7733
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- Publication type:
- Article