Phase separation is an emerging paradigm for understanding the biochemical interactions
between proteins, DNA, and RNA. Research over the past decade has provided mounting …

Aicardi-Goutières syndrome (AGS) is a progressive multisystem disorder including
encephalopathy with significant impacts on intellectual and physical abilities. An early …

The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) poses threats to
individuals with rare disease, in part because so little is known about the impact of COVID …

Aicardi-Goutières syndrome (AGS) is an early-onset monogenic encephalopathy
characterized by intracranial calcification, leukodystrophy and cerebrospinal fluid …

ADAR1 是引起神经系统表型Aicardi-Goutières 综合征(AGS) 的致病基因之一,
以常染色体隐性遗传为主. 临床以进行性肌张力障碍, 颅内白质钙化和血液及脑脊液中干扰素升 …

Objectives Mutations in the TREX1 gene cause Aicardi-Goutières syndrome (AGS) 1,
associated with a spectrum of autoimmune and neurodegenerative manifestations. AGS 1 …

Abstract Background Aicardi–Goutières syndrome (AGS) is a rare, autosomal recessive,
hereditary neurodegenerative disorder. It is characterized mainly by early onset progressive …

Introduction: Aicardi-Gouteres syndrome (AGS) is a monogenic interferonopathy
characterized by early onset, dysregulation of skin (chilblain lesions), brain, and immune …

Interferons (IFN) are induced by sensing of self-and non-self DNA or genomic lesions by
pathogen recognition receptors (PRR) that activate STING. These pathways must be kept in …

Abstract Aicardi-Goutieres Syndrome (AGS) is a heterogeneous genetic syndrome,
manifesting early as encephalopathy and is associated with abnormal neurologic findings …