(Q37022007)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592335%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

title

Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592335%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592335%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Martin A.M. Reijns

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592335%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Elisa Fazzi

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592335%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Simona Orcesi

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592335%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Andrew Jackson

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592335%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Yanick J. Crow

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592335%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

16

Kathryn J Swoboda

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592335%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

author name string

Stephanie R Coffin

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592335%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Gabriella M A Forte

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592335%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Beverley H Anderson

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592335%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Marcin Szynkiewicz

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592335%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Hannah Gornall

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592335%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

David Gent

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592335%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Andrea Leitch

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592335%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Maria P Botella

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592335%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Blanca Gener

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592335%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Lieven Lagae

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592335%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Ivana Olivieri

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592335%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Fred W Perrino

17

1 reference

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28 February 2020

publication date

13 May 2013

1 reference

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28 February 2020

1 reference

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28 February 2020

volume

34

1 reference

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28 February 2020

page(s)

1066-1070

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592335%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592335%20AND%20SRC:MED&resulttype=core&format=json

RNase H2 roles in genome integrity revealed by unlinking its activities

28 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714325

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714325

Enzymatic removal of ribonucleotides from DNA is essential for mammalian genome integrity and development.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714325

Aicardi-Goutieres syndrome gene and HIV-1 restriction factor SAMHD1 is a dGTP-regulated deoxynucleotide triphosphohydrolase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714325

HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714325

Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714325

PCNA directs type 2 RNase H activity on DNA replication and repair substrates

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714325

The structural and biochemical characterization of human RNase H2 complex reveals the molecular basis for substrate recognition and Aicardi-Goutières syndrome defects

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714325

The Structure of the Human RNase H2 Complex Defines Key Interaction Interfaces Relevant to Enzyme Function and Human Disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714325

A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714325

Abundant ribonucleotide incorporation into DNA by yeast replicative polymerases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714325

The Structure of the Mammalian RNase H2 Complex Provides Insight into RNA⋅DNA Hybrid Processing to Prevent Immune Dysfunction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714325

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714325

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714325

SplicePort--an interactive splice-site analysis tool

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714325

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714325

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714325

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714325

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714325

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714325

Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714325

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714325

Chilblains as a Diagnostic Sign of Aicardi-Goutières Syndrome

29 September 2017

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.22336

Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.22336

A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23592335

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.22336

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592335%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592335%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592335%20AND%20SRC:MED&resulttype=core&format=json