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1988 1
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Showing results for vincent goutieres
Your search for Vincent Goutière retrieved no results
Small molecule inhibition of cGAS reduces interferon expression in primary macrophages from autoimmune mice.
Vincent J, Adura C, Gao P, Luz A, Lama L, Asano Y, Okamoto R, Imaeda T, Aida J, Rothamel K, Gogakos T, Steinberg J, Reasoner S, Aso K, Tuschl T, Patel DJ, Glickman JF, Ascano M. Vincent J, et al. Nat Commun. 2017 Sep 29;8(1):750. doi: 10.1038/s41467-017-00833-9. Nat Commun. 2017. PMID: 28963528 Free PMC article.
Mouse studies that recapitulate causative mutations in the autoimmune disease Aicardi-Goutieres syndrome demonstrate that ablating the cyclic GMP-AMP synthase gene abolishes the deleterious phenotype. ...We find that a chemically improved member, RU.521, is active and sele …
Mouse studies that recapitulate causative mutations in the autoimmune disease Aicardi-Goutieres syndrome demonstrate that ablating th …
Exploration of Gross Motor Function in Aicardi-Goutieres Syndrome.
Gavazzi F, Glanzman AM, Woidill S, Formanowski B, Dixit A, Isaacs D, Kornafel T, Ballance E, Pierce SR, Modesti N, Barcelos I, Cusack SV, Jan AK, Flores Z, Sherbini O, Vincent A, D'Aiello R, Lorch SA, DeMauro SB, Jawad A, Vanderver A, Adang L. Gavazzi F, et al. J Child Neurol. 2023 Aug;38(8-9):518-527. doi: 10.1177/08830738231188753. Epub 2023 Jul 27. J Child Neurol. 2023. PMID: 37499181 Free PMC article.
Background: Aicardi-Goutieres syndrome (AGS) is a rare genetic disorder characterized by a spectrum of motor abilities. While the Aicardi-Goutieres syndrome severity score favors severely impacted individuals, there is an unmet need to define tools measuring functio …
Background: Aicardi-Goutieres syndrome (AGS) is a rare genetic disorder characterized by a spectrum of motor abilities. While the Aic …
Generation of a new Adar1p150 -/- mouse demonstrates isoform-specific roles in embryonic development and adult homeostasis.
Liang Z, Goradia A, Walkley CR, Heraud-Farlow JE. Liang Z, et al. RNA. 2023 Sep;29(9):1325-1338. doi: 10.1261/rna.079509.122. Epub 2023 Jun 8. RNA. 2023. PMID: 37290963 Free PMC article.
Loss-of-function mutations in ADAR are associated with rare autoinflammatory disorders including Aicardi-Goutieres syndrome (AGS), defined by a constitutive systemic up-regulation of type I interferon (IFN). ...
Loss-of-function mutations in ADAR are associated with rare autoinflammatory disorders including Aicardi-Goutieres syndrome (AGS), de …
Neuromyelitis optica in a child with Aicardi-Goutieres syndrome.
Hacohen Y, Zuberi S, Vincent A, Crow YJ, Cordeiro N. Hacohen Y, et al. Neurology. 2015 Jul 28;85(4):381-3. doi: 10.1212/WNL.0000000000001792. Epub 2015 Jul 1. Neurology. 2015. PMID: 26136517 Free PMC article. No abstract available.
What do editors do? Understanding the physiological functions of A-to-I RNA editing by adenosine deaminase acting on RNAs.
Heraud-Farlow JE, Walkley CR. Heraud-Farlow JE, et al. Open Biol. 2020 Jul;10(7):200085. doi: 10.1098/rsob.200085. Epub 2020 Jul 1. Open Biol. 2020. PMID: 32603639 Free PMC article. Review.
Furthermore, changes in RNA editing are associated with various pathological states, from the severe autoimmune disease Aicardi-Goutieres syndrome, to various neurodevelopmental and psychiatric conditions and cancer. ...
Furthermore, changes in RNA editing are associated with various pathological states, from the severe autoimmune disease Aicardi-Goutieres …
[Aicardi-Goutieres syndrome: a Mendelian mimic of congenital infection].
Lebon P. Lebon P. Virologie (Montrouge). 2009 Dec 1;13(6):297-304. doi: 10.1684/13-6.2011.297-304-article-1. Virologie (Montrouge). 2009. PMID: 36151662 French.
In 1988, we have drawn attention to the consistent finding of raised levels of interferon-alpha (IFN) in the cerebro-spinal fluid (CSF) and serum of infants affected with a severe genetically determined encephalopathy. These encephalopathies called Aicardi-Goutieres syndro …
In 1988, we have drawn attention to the consistent finding of raised levels of interferon-alpha (IFN) in the cerebro-spinal fluid (CSF) and …
Characterization of Fine Motor and Visual Motor Skills in Aicardi-Goutieres Syndrome.
Cusack SV, Gavazzi F, de Barcelos IP, Modesti NB, Woidill S, Formanowski B, DeMauro SB, Lorch S, Vincent A, Jawad AF, Estilow T, Glanzman AM, Vanderver A, Adang LA. Cusack SV, et al. J Child Neurol. 2024 Mar;39(3-4):147-154. doi: 10.1177/08830738241241786. Epub 2024 Mar 27. J Child Neurol. 2024. PMID: 38532733 Free PMC article.
Aicardi-Goutieres syndrome is a genetic inflammatory disorder resulting in dispersed neurologic dysfunction. ...We hypothesize that there is a spectrum of fine and visual motor skills in the Aicardi-Goutieres syndrome population as captured by a standard outcome mea …
Aicardi-Goutieres syndrome is a genetic inflammatory disorder resulting in dispersed neurologic dysfunction. ...We hypothesize that t …
The phenotype of the most common human ADAR1p150 Zα mutation P193A in mice is partially penetrant.
Liang Z, Chalk AM, Taylor S, Goradia A, Heraud-Farlow JE, Walkley CR. Liang Z, et al. EMBO Rep. 2023 May 4;24(5):e55835. doi: 10.15252/embr.202255835. Epub 2023 Mar 28. EMBO Rep. 2023. PMID: 36975179 Free PMC article.
ADAR1 -mediated A-to-I RNA editing is a self-/non-self-discrimination mechanism for cellular double-stranded RNAs. ADAR mutations are one cause of Aicardi-Goutieres Syndrome, an inherited paediatric encephalopathy, classed as a "Type I interferonopathy." ...
ADAR1 -mediated A-to-I RNA editing is a self-/non-self-discrimination mechanism for cellular double-stranded RNAs. ADAR mutations are one ca …
Small molecule inhibition of human cGAS reduces total cGAMP output and cytokine expression in cells.
Wiser C, Kim B, Vincent J, Ascano M. Wiser C, et al. Sci Rep. 2020 May 5;10(1):7604. doi: 10.1038/s41598-020-64348-y. Sci Rep. 2020. PMID: 32371942 Free PMC article.
Constitutive activation can result in interferonopathies such as Aicardi-Goutieres Syndrome (AGS) or other lupus-like autoimmune disorders. ...
Constitutive activation can result in interferonopathies such as Aicardi-Goutieres Syndrome (AGS) or other lupus-like autoimmune diso …
13 results