Publications by authors named "Y-J Crow"
Article Synopsis
- TLR7 plays a crucial role in detecting both viral and self-derived ssRNA, influencing the body's immune response.
- Two novel mutations, F507S and L528I, in the TLR7 gene are linked to severe autoimmune conditions, with F507S occurring in a family and potentially affecting male subjects despite the gene being on the X chromosome.
- These mutations highlight the importance of TLR7's dimerization in immune regulation and suggest that TLR7-related conditions may encompass a wider range of symptoms, including neurological issues.
Heterozygous missense mutations in coatomer protein subunit α, COPA, cause a syndrome overlapping clinically with type I IFN-mediated disease due to gain-of-function in STING, a key adaptor of IFN signaling. Recently, increased levels of IFN-stimulated genes (ISGs) were described in COPA syndrome. However, the link between COPA mutations and IFN signaling is unknown.
View Article and Find Full Text PDFWe investigated the genetic, phenotypic, and interferon status of 46 patients from 37 families with neurological disease due to mutations in . The clinicoradiological phenotype encompassed a spectrum of Aicardi-Goutières syndrome, isolated bilateral striatal necrosis, spastic paraparesis with normal neuroimaging, a progressive spastic dystonic motor disorder, and adult-onset psychological difficulties with intracranial calcification. Homozygous missense mutations were recorded in five families.
View Article and Find Full Text PDFObjective: To perform an updated characterization of the neuroradiologic features of Aicardi-Goutières syndrome (AGS).
Methods: The neuroradiologic data of 121 subjects with AGS were collected. The CT and MRI data were analyzed with a systematic approach.