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Tracy A Briggs

Researcher at University of Manchester

Publications -  67
Citations -  3767

Tracy A Briggs is an academic researcher from University of Manchester. The author has contributed to research in topics: Medicine & Exome sequencing. The author has an hindex of 23, co-authored 60 publications receiving 2836 citations. Previous affiliations of Tracy A Briggs include Manchester Academic Health Science Centre & St James's University Hospital.

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Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

Gillian I. Rice, +53 more
- 01 Nov 2012 - 
TL;DR: It is shown that mutations in ADAR1 cause the autoimmune disorder Aicardi-Goutières syndrome (AGS), and it is speculated that ADar1 may limit the cytoplasmic accumulation of the dsRNA generated from genomic repetitive elements.
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Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.

Gillian I. Rice, +50 more
- 14 Jun 2009 - 
TL;DR: Mutations in SAMHD1 are described as the cause of Aicardi-Goutières syndrome at the AGS5 locus and data is presented to show that SAM HD1 may act as a negative regulator of the cell-intrinsic antiviral response.
Journal ArticleDOI

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

Gillian I. Rice, +117 more
TL;DR: The analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder, and indicates that at least one further AGS-causing gene remains to be identified.
Journal ArticleDOI

Detection of interferon alpha protein reveals differential levels and cellular sources in disease.

TL;DR: Measurement of IFN&agr; attomolar concentrations by digital ELISA will enhance the understanding ofIFN biology and potentially improve the diagnosis and stratification of pathologies associated with IFN dysregulation.
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Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.

TL;DR: Findings reveal a previously unrecognized link between tartrate-resistant acid phosphatase activity and interferon metabolism and highlight the importance of type Iinterferon in the genesis of autoimmunity.