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)

1 reference

2 August 2017

0 references

13

1 reference

2 August 2017

44

1 reference

2 August 2017

43

David T Bonthron

0 references

Elisa Fazzi

Elisa Fazzi

18

0 references

Yanick J. Crow

Yanick J Crow

1

0 references

Didier Lacombe

Didier Lacombe

22

0 references

Andrew Jackson

Andrew P Jackson

45

0 references

C Geoffrey Woods

41

C Geoffrey Woods

1 reference

2 August 2017

5

Rekha Parmar

1 reference

2 August 2017

9

Jean Aicardi

1 reference

2 August 2017

14

Kate E Chandler

1 reference

2 August 2017

19

Cyril Goizet

1 reference

2 August 2017

21

Joerg Klepper

1 reference

2 August 2017

23

Giovanni Lanzi

1 reference

2 August 2017

2

Andrea Leitch

1 reference

2 August 2017

Richard Curtis Rogers

32

R Curtis Rogers

1 reference

2 August 2017

33

Amparo Sanchis

1 reference

2 August 2017

35

Uta Tacke

1 reference

2 August 2017

38

Pam Tomlin

1 reference

2 August 2017

40

Bernhard Weschke

1 reference

2 August 2017

7

Manir Ali

1 reference

2 August 2017

15

David Chitayat

1 reference

2 August 2017

10

Riyana Babul-Hirji

1 reference

2 August 2017

11

Clarisse Baumann

1 reference

2 August 2017

Bruce E Hayward

3

1 reference

2 August 2017

Anna Garner

4

1 reference

2 August 2017

Elen Griffith

6

1 reference

2 August 2017

Colin Semple

8

1 reference

2 August 2017

Peter Baxter

12

1 reference

2 August 2017

Daniel Cau

16

1 reference

2 August 2017

Catherine Déry

17

1 reference

2 August 2017

Mary D King

20

1 reference

2 August 2017

Hermione Lyall

24

1 reference

2 August 2017

María Luisa Martínez-Frías

25

1 reference

2 August 2017

Michèle Mathieu

26

1 reference

2 August 2017

Carole McKeown

27

1 reference

2 August 2017

Anne Monier

28

1 reference

2 August 2017

Yvette Oade

29

1 reference

2 August 2017

Oliver W Quarrell

30

1 reference

2 August 2017

Christopher D Rittey

31

1 reference

2 August 2017

John B P Stephenson

34

1 reference

2 August 2017

Marianne Till

36

1 reference

2 August 2017

John L Tolmie

37

1 reference

2 August 2017

Thomas Voit

39

1 reference

2 August 2017

Pierre Lebon

42

1 reference

2 August 2017

language of work or name

English

0 references

publication date

16 July 2006

1 reference

2 August 2017

1 reference

2 August 2017

volume

38

1 reference

2 August 2017

issue

8

1 reference

2 August 2017

page(s)

910-916

1 reference

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

2 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNG1842

Aicardi-Goutières syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1842

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1842

Neuroradiographic abnormalities in congenital cytomegalovirus infection

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1842

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1842

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1842

AIDS: calcification of the basal ganglia in infants and children

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1842

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

https://api.crossref.org/works/10.1038%2FNG1842

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1842

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1842

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1842

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1842

Extended tracts of homozygosity in outbred human populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1842

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1842

Amino acid substitution matrices from protein blocks

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1842

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1842

RNase H2 of Saccharomyces cerevisiae is a complex of three proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1842

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

https://api.crossref.org/works/10.1038%2FNG1842

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1842

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

https://api.crossref.org/works/10.1038%2FNG1842

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

https://api.crossref.org/works/10.1038%2FNG1842

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1842

Genetic syndromes mimic congenital infections

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1842

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1842

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1842

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1842

Severe fetal brain dysgenesis with focal calcification.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1842

Innate immune recognition of viral infection

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1842

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1842

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1842

CHROMA: consensus-based colouring of multiple alignments for publication

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1842

SWISS-MODEL: An automated protein homology-modeling server

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1842

Errors in protein structures

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1842

VMD: visual molecular dynamics

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1842

Interferon and Aicardi-Goutières syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1842

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1842

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1842

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1842

7 January 2021

Microcephaly and intracranial calcification in two brothers.

1 reference

https://api.crossref.org/works/10.1038%2FNG1842

7 January 2021

Identifiers

DOI

10.1038/NG1842

1 reference

2 August 2017

1 reference