Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection (Q34548112)

2 August 2017

title

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection (English)

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David T Bonthron

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Elisa Fazzi

Elisa Fazzi

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Yanick J. Crow

Yanick J Crow

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Didier Lacombe

Didier Lacombe

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Andrew Jackson

Andrew P Jackson

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C Geoffrey Woods

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C Geoffrey Woods

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Rekha Parmar

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Jean Aicardi

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Kate E Chandler

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Cyril Goizet

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Joerg Klepper

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Giovanni Lanzi

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Andrea Leitch

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Richard Curtis Rogers

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R Curtis Rogers

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Amparo Sanchis

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Uta Tacke

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Pam Tomlin

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Bernhard Weschke

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Manir Ali

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David Chitayat

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Riyana Babul-Hirji

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Clarisse Baumann

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Bruce E Hayward

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Anna Garner

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Elen Griffith

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Colin Semple

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Peter Baxter

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Daniel Cau

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Catherine Déry

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Mary D King

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Hermione Lyall

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María Luisa Martínez-Frías

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Michèle Mathieu

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Carole McKeown

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Anne Monier

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Yvette Oade

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Oliver W Quarrell

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Christopher D Rittey

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John B P Stephenson

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Marianne Till

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John L Tolmie

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Thomas Voit

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Pierre Lebon

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language of work or name

English

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publication date

16 July 2006

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volume

38

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issue

8

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page(s)

910-916

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A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis

2 August 2017

cites work

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Aicardi-Goutières syndrome

21 January 2018

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Aicardi-Goutières syndrome: an update and results of interferon-alpha studies

21 January 2018

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Neuroradiographic abnormalities in congenital cytomegalovirus infection

21 January 2018

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Intracranial calcification with congenital rubella syndrome in a mother with serologic immunity

21 January 2018

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Neurological and developmental effects of HIV and AIDS in children and adolescents

21 January 2018

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AIDS: calcification of the basal ganglia in infants and children

21 January 2018

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Recognizable inherited syndrome of progressive central nervous system degeneration and generalized intracranial calcification with overlapping phenotype of the syndrome of Aicardi and Goutières

21 January 2018

1 reference

Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

21 January 2018

1 reference

Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism

21 January 2018

1 reference

A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21

21 January 2018

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Long homozygous chromosomal segments in reference families from the centre d'Etude du polymorphisme humain

21 January 2018

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Extended tracts of homozygosity in outbred human populations

21 January 2018

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Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

21 January 2018

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Amino acid substitution matrices from protein blocks

21 January 2018

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Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

21 January 2018

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RNase H2 of Saccharomyces cerevisiae is a complex of three proteins

21 January 2018

1 reference

Identification of the genes encoding Mn2 -dependent RNase HII and Mg2 -dependent RNase HIII from Bacillus subtilis: classification of RNases H into three families

21 January 2018

1 reference

Cloning of the cDNA encoding the large subunit of human RNase HI, a homologue of the prokaryotic RNase HII

21 January 2018

1 reference

The absence of ribonuclease H1 or H2 alters the sensitivity of Saccharomyces cerevisiae to hydroxyurea, caffeine and ethyl methanesulphonate: implications for roles of RNases H in DNA replication and repair

21 January 2018

1 reference

Saccharomyces cerevisiae RNase H(35) functions in RNA primer removal during lagging-strand DNA synthesis, most efficiently in cooperation with Rad27 nuclease

21 January 2018

1 reference

Excision of misincorporated ribonucleotides in DNA by RNase H (type 2) and FEN-1 in cell-free extracts

21 January 2018

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Genetic syndromes mimic congenital infections

21 January 2018

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Structural biochemistry of a type 2 RNase H: RNA primer recognition and removal during DNA replication

21 January 2018

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A fluorescence-based high-throughput screening assay for inhibitors of human immunodeficiency virus-1 reverse transcriptase-associated ribonuclease H activity

21 January 2018

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Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease

21 January 2018

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Severe fetal brain dysgenesis with focal calcification.

21 January 2018

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Innate immune recognition of viral infection

21 January 2018

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Structural and functional neuropathology in transgenic mice with CNS expression of IFN-alpha

21 January 2018

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Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter

21 January 2018

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CHROMA: consensus-based colouring of multiple alignments for publication

21 January 2018

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SWISS-MODEL: An automated protein homology-modeling server

21 January 2018

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Errors in protein structures

21 January 2018

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VMD: visual molecular dynamics

21 January 2018

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Interferon and Aicardi-Goutières syndrome

21 January 2018

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7 January 2021

Measuring HIV-1 RNA and interferon-alpha in the cerebrospinal fluid of AIDS patients: insights into the pathogenesis of AIDS Dementia Complex

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7 January 2021

Intrathecal synthesis of different alpha-interferons in patients with various neurological diseases

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7 January 2021

Substrate specificity of human RNase H1 and its role in excision repair of ribose residues misincorporated in DNA

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7 January 2021

Microcephaly and intracranial calcification in two brothers.

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7 January 2021

Identifiers

DOI

10.1038/NG1842

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2 August 2017

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