A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1. (Q52840797)

8 May 2018

title

A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1. (English)

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Gillian I. Rice

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Yanick J. Crow

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Paul Kasher

object named as

Paul R Kasher

13

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Arnold Munnich

6

object named as

Arnold Munnich

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John H Livingston

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Russell C Dale

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Deepak Gill

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Paul Brogan

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Manju A Kurian

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Victoria Gonzalez-Martinez

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Christian G E L De Goede

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Alastair Falconer

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Gabriella Forte

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Emma M Jenkinson

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Marcin Szynkiewicz

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language of work or name

English

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publication date

21 November 2013

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8 May 2018

Journal of Medical Genetics

published in

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volume

51

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issue

2

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page(s)

76-82

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

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Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene

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Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis

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SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis

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Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection

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Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation

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Six novel mutations of the ADAR1 gene in patients with dyschromatosis symmetrica hereditaria: histological observation and comparison of genotypes and clinical phenotypes.

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RNA editing by mammalian ADARs

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Competition between ADAR and RNAi pathways for an extensive class of RNA targets

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Double-stranded RNAs containing multiple IU pairs are sufficient to suppress interferon induction and apoptosis

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RNA-specific adenosine deaminase ADAR1 suppresses measles virus-induced apoptosis and activation of protein kinase PKR

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RNA editing enzyme adenosine deaminase is a restriction factor for controlling measles virus replication that also is required for embryogenesis

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An autoimmune disease prevented by anti-retroviral drugs

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Type I interferonopathies: a novel set of inborn errors of immunity

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10.1136/JMEDGENET-2013-102038

21 January 2018

Identifiers

DOI

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8 May 2018

PubMed ID

24262145

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8 May 2018