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   Articles with "gouti res" as a keyword



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Diagnosis of Aicardi‐Goutières Syndrome in Adults: A Case Series

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recommendations! Published in 2020 at "Movement Disorders Clinical Practice"

DOI: 10.1002/mdc3.12903

Abstract: Aicardi‐Goutières syndrome (AGS) is a genetic disease presenting with early‐onset encephalopathy, generalized dystonia, spasticity, and cognitive disability. Diagnosis may be difficult in adults, as the clinical course seems static from infancy. read more here.

Keywords: aicardi gouti; res syndrome; syndrome adults; diagnosis aicardi ... See more keywords
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Comment on: Diagnosis of Aicardi‐Goutières Syndrome in Adults

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recommendations! Published in 2020 at "Movement Disorders Clinical Practice"

DOI: 10.1002/mdc3.12958

Abstract: We read with great interest the manuscript by Videira and colleagues, about the diagnosis of Aicardi-Goutières syndrome (AGS) in adults, and we would like to contribute with 2 more cases of an ongoing study in… read more here.

Keywords: aicardi gouti; res syndrome; diagnosis aicardi; gouti res ... See more keywords
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Mutations in the adenosine deaminase ADAR1 that prevent endogenous Z-RNA binding induce Aicardi-Goutières-syndrome-like encephalopathy.

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recommendations! Published in 2021 at "Immunity"

DOI: 10.1016/j.immuni.2021.08.022

Abstract: Mutations in the adenosine-to-inosine RNA-editing enzyme ADAR1 p150, including point mutations in the Z-RNA recognition domain Zα, are associated with Aicardi-Goutières syndrome (AGS). Here, we examined the in vivo relevance of ADAR1 binding of Z-RNA. Mutation… read more here.

Keywords: aicardi gouti; res syndrome; rna; rna binding ... See more keywords
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DNA damage rather than type I IFN signaling is the primary mediator of neural dysfunction in Aicardi-Goutières syndrome after RNASEH2 disruption

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recommendations! Published in 2021 at "Neuron"

DOI: 10.1016/j.neuron.2021.11.019

Abstract: Mutations in genes that function in nucleic metabolism have been shown to be linked to Aicardi-Goutières syndrome. In this issue of Neuron, Aditi et al. (2021) provide evidence that DNA damage-dependent signaling rather than type I… read more here.

Keywords: rather type; res syndrome; gouti res; aicardi gouti ... See more keywords
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Multiple Autoimmune Disorders in Aicardi-Goutières Syndrome.

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recommendations! Published in 2019 at "Pediatric neurology"

DOI: 10.1016/j.pediatrneurol.2019.01.017

Abstract: BACKGROUND Aicardi-Goutières syndrome is an early-onset encephalopathy with presumed immune pathogenesis caused by inherited defects in nucleic acid metabolism. It is a model disease to study systemic autoimmunity, and there are many clinical, genetic, and… read more here.

Keywords: aicardi gouti; res syndrome; multiple autoimmune; gouti res ... See more keywords
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Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features.

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recommendations! Published in 2020 at "Pediatric neurology"

DOI: 10.1016/j.pediatrneurol.2020.10.012

Abstract: BACKGROUND Aicardi-Goutières syndrome (AGS) is a genetic interferonopathy characterized by early onset of severe neurological injury with intracranial calcifications, leukoencephalopathy, and systemic inflammation. Increasingly, a spectrum of neurological dysfunction and presentation beyond the infantile period… read more here.

Keywords: onset; late onset; res syndrome; aicardi gouti ... See more keywords
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Generation of three iPSC lines from fibroblasts of a patient with Aicardi Goutières Syndrome mutated in TREX1.

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recommendations! Published in 2019 at "Stem cell research"

DOI: 10.1016/j.scr.2019.101580

Abstract: Fibroblasts from a patient with Aicardi Goutières Syndrome (AGS) carrying a compound heterozygous mutation in TREX1, were reprogrammed into induced pluripotent stem cells (iPSCs) to establish isogenic clonal stem cell lines: UNIBSi006-A, UNIBSi006-B, and UNIBSi006-C.… read more here.

Keywords: aicardi gouti; res syndrome; fibroblasts patient; patient aicardi ... See more keywords
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Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B.

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recommendations! Published in 2019 at "Stem cell research"

DOI: 10.1016/j.scr.2019.101620

Abstract: We report the generation of three isogenic iPSC clones (UNIBSi007-A, UNIBSi007-B, and UNIBSi007-C) obtained from fibroblasts of a patient with Aicardi Goutières Syndrome (AGS) carrying a homozygous mutation in RNaseH2B. Cells were transduced using a… read more here.

Keywords: aicardi gouti; res syndrome; fibroblasts patient; patient aicardi ... See more keywords
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Hepatic Involvement in Aicardi-Goutières Syndrome.

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recommendations! Published in 2021 at "Neuropediatrics"

DOI: 10.1055/s-0040-1722673

Abstract: Aicardi-Goutières syndrome (AGS) is a monogenic type-I interferonopathy that results in neurologic injury. The systemic impact of sustained interferon activation is less well characterized. Liver inflammation is known to be associated with the neonatal form… read more here.

Keywords: hepatitis; res syndrome; aicardi gouti; gouti res ... See more keywords
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RNASEH2C c.194G>A is a Chinese-specific founder mutation in three unrelated patients with Aicardi-Goutières syndrome 3.

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recommendations! Published in 2023 at "Clinical genetics"

DOI: 10.1111/cge.14343

Abstract: Biallelic pathogenic variants in RNASEH2C cause Aicardi-Goutières syndrome 3 (AGS3, MIM #610329), a rare early-onset encephalopathy characterized by intermittent unexplained fever, chilblains, irritability, progressive microcephaly, dystonia, spasticity, severe psychomotor retardation and abnormal brain imaging. Currently,… read more here.

Keywords: rnaseh2c 194g; three unrelated; res syndrome; gouti res ... See more keywords
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Opsoclonus-myoclonus in Aicardi-Goutières syndrome.

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recommendations! Published in 2021 at "Developmental medicine and child neurology"

DOI: 10.1111/dmcn.14969

Abstract: Aicardi-Goutières syndrome (AGS) is a rare genetic neuroinflammatory disorder caused by abnormal upregulation of type 1 interferon signalling. Opsoclonus-myoclonus syndrome is a rare autoimmune phenotype demonstrating a disturbance in the humoral immune response mostly seen… read more here.

Keywords: aicardi gouti; res syndrome; opsoclonus myoclonus; myoclonus ... See more keywords