Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 1
2008 2
2012 2
2013 4
2014 1
2015 4
2016 3
2017 2
2018 3
2019 4
2020 1
2021 1
2022 1
2023 1

Text availability

Article attribute

Article type

Publication date

Search Results

26 results

Results by year

Filters applied: . Clear all
Page 1
Aicardi-Goutières syndrome and the type I interferonopathies.
Crow YJ, Manel N. Crow YJ, et al. Nat Rev Immunol. 2015 Jul;15(7):429-40. doi: 10.1038/nri3850. Epub 2015 Jun 5. Nat Rev Immunol. 2015. PMID: 26052098 Review.
Dissection of the genetic basis of Aicardi-Goutieres syndrome has highlighted a fundamental link between nucleic acid metabolism, innate immune sensors and type I interferon induction. ...
Dissection of the genetic basis of Aicardi-Goutieres syndrome has highlighted a fundamental link between nucleic acid m …
JAK-inhibitors. New players in the field of immune-mediated diseases, beyond rheumatoid arthritis.
Fragoulis GE, McInnes IB, Siebert S. Fragoulis GE, et al. Rheumatology (Oxford). 2019 Feb 1;58(Suppl 1):i43-i54. doi: 10.1093/rheumatology/key276. Rheumatology (Oxford). 2019. PMID: 30806709 Free PMC article. Review.
Although, so far, JAK inhibitors have been marketed only for RA and PsA, these drugs have been tested in phase 2 and phase 3 clinical trials for other inflammatory conditions and beyond. ...
Although, so far, JAK inhibitors have been marketed only for RA and PsA, these drugs have been tested in phase 2 and phase 3 clinical …
STING palmitoylation as a therapeutic target.
Hansen AL, Mukai K, Schopfer FJ, Taguchi T, Holm CK. Hansen AL, et al. Cell Mol Immunol. 2019 Mar;16(3):236-241. doi: 10.1038/s41423-019-0205-5. Epub 2019 Feb 22. Cell Mol Immunol. 2019. PMID: 30796349 Free PMC article. Review.
Furthermore, excessive activity of the STING signaling pathway is associated with autoinflammatory diseases, including systemic lupus erythematosus and Aicardi-Goutieres syndrome (AGS). Two independent studies recently identified pharmacological inhibitors of …
Furthermore, excessive activity of the STING signaling pathway is associated with autoinflammatory diseases, including systemic lupus erythe …
What's New in Genetic Skin Diseases.
Hill CR, Theos A. Hill CR, et al. Dermatol Clin. 2019 Apr;37(2):229-239. doi: 10.1016/j.det.2018.11.004. Dermatol Clin. 2019. PMID: 30850045 Review.
This article highlights just a few of these recent discoveries for a diverse group of skin diseases, including tuberous sclerosis complex, ichthyoses, overgrowth syndromes, interferonopathies, and basal cell nevus syndrome, and how this has translated into novel targeted t …
This article highlights just a few of these recent discoveries for a diverse group of skin diseases, including tuberous sclerosis complex, i …
Stiff person syndrome and other immune-mediated movement disorders - new insights.
Balint B, Bhatia KP. Balint B, et al. Curr Opin Neurol. 2016 Aug;29(4):496-506. doi: 10.1097/WCO.0000000000000351. Curr Opin Neurol. 2016. PMID: 27262149 Review.
Lastly, there is an interface of immunology, genetics and neurodegeneration, e.g. in Aicardi-Goutieres syndrome or the tauopathy with IgLON5-antibodies. SUMMARY: Clinicians should be aware of new antibodies such as dipeptidyl-peptidase-like protein-6, gamma-a …
Lastly, there is an interface of immunology, genetics and neurodegeneration, e.g. in Aicardi-Goutieres syndrome or the …
Pathogenic insights from genetic causes of autoinflammatory inflammasomopathies and interferonopathies.
Lin B, Goldbach-Mansky R. Lin B, et al. J Allergy Clin Immunol. 2022 Mar;149(3):819-832. doi: 10.1016/j.jaci.2021.10.027. Epub 2021 Dec 8. J Allergy Clin Immunol. 2022. PMID: 34893352 Free PMC article. Review.
This review provides insights into the pathogenesis and genetic causes of these "prototypic" diseases caused by gain-of function mutations in IL-1-activating inflammasomes (inflammasomopathies) and in interferon-activating pathways (interferonopathies) including STING-associated …
This review provides insights into the pathogenesis and genetic causes of these "prototypic" diseases caused by gain-of function mutations i …
Aicardi-Goutières syndrome.
Goutières F. Goutières F. Brain Dev. 2005 Apr;27(3):201-6. doi: 10.1016/j.braindev.2003.12.011. Brain Dev. 2005. PMID: 15737701 Review.
Aicardi-Goutieres syndrome is a familial progressive early onset encephalopathy with basal ganglia calcifications, chronic CSF lymphocytosis and high level of interferon-alpha in CSF. ...
Aicardi-Goutieres syndrome is a familial progressive early onset encephalopathy with basal ganglia calcifications, chro …
Astrocytes, an active player in Aicardi-Goutières syndrome.
Sase S, Takanohashi A, Vanderver A, Almad A. Sase S, et al. Brain Pathol. 2018 May;28(3):399-407. doi: 10.1111/bpa.12600. Brain Pathol. 2018. PMID: 29740948 Free PMC article. Review.
Aicardi-Goutieres syndrome (AGS) is an early-onset, autoimmune and genetically heterogeneous disorder with severe neurologic injury. ...
Aicardi-Goutieres syndrome (AGS) is an early-onset, autoimmune and genetically heterogeneous disorder with severe neuro …
Movement disorders in ADAR1 disease: Insights from a comprehensive cohort.
Di Lazzaro G, Graziola F, Sancesario A, Insalaco A, Moneta GM, Castelli E, Bertini E, Travaglini L, Stregapede F, Capuano A, Vasco G, Schirinzi T. Di Lazzaro G, et al. Parkinsonism Relat Disord. 2020 Oct;79:100-104. doi: 10.1016/j.parkreldis.2020.08.039. Epub 2020 Aug 30. Parkinsonism Relat Disord. 2020. PMID: 32911246 Review.
ADAR1 variants are associated to rare and heterogenous neurological conditions, including Aicardi-Goutieres syndrome type 6, bilateral striatal necrosis, and dyschromatosis symmetrica hereditaria. ...Here, a cohort of 57 patients with ADAR1-related diseases, …
ADAR1 variants are associated to rare and heterogenous neurological conditions, including Aicardi-Goutieres syndrome ty …
RNA degradation in antiviral immunity and autoimmunity.
Rigby RE, Rehwinkel J. Rigby RE, et al. Trends Immunol. 2015 Mar;36(3):179-88. doi: 10.1016/j.it.2015.02.001. Epub 2015 Feb 20. Trends Immunol. 2015. PMID: 25709093 Free PMC article. Review.
26 results