Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections (Q38637282)

http://europepmc.org/abstract/PMC/5669568

3 March 2018

title

Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections (English)

1 reference

http://europepmc.org/abstract/PMC/5669568

3 March 2018

author

Kristian A Skipper

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28783042%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Stefanie Luecke

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28783042%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Thaneas Prabakaran

8

1 reference

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8 June 2020

Esther Bartholomeus

11

1 reference

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8 June 2020

Lazaro Lorenzo

16

1 reference

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8 June 2020

Anna C Jansen

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28783042%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Evelien Smits

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28783042%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Jacob Giehm Mikkelsen

42

1 reference

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8 June 2020

44

Søren R Paludan

1 reference

8 June 2020

Jean-Laurent Casanova

43

object named as

Jean-Laurent Casanova

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28783042%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

39

Laurent Abel

1 reference

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8 June 2020

35

Capucine Picard

1 reference

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8 June 2020

45

Trine H Mogensen

1 reference

8 June 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28783042%20AND%20SRC:MED&resulttype=core&format=json

18

Soraya Boucherit

1 reference

8 June 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28783042%20AND%20SRC:MED&resulttype=core&format=json

2

Shen-Ying Zhang

1 reference

8 June 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28783042%20AND%20SRC:MED&resulttype=core&format=json

6

Gaspard Kerner

1 reference

8 June 2020

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Benson Ogunjimi

1

1 reference

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8 June 2020

Katrine B Sørensen

3

1 reference

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8 June 2020

Madalina Carter-Timofte

5

1 reference

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8 June 2020

Yujia Cai

9

1 reference

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8 June 2020

Josephina Meester

10

1 reference

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8 June 2020

Nikhita Ajit Bolar

12

1 reference

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8 June 2020

Geert Vandeweyer

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28783042%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Charlotte Claes

14

1 reference

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8 June 2020

Yasmine Sillis

15

1 reference

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8 June 2020

Raffaele A Fiorenza

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28783042%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Charlotte Dielman

19

1 reference

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8 June 2020

Steven Heynderickx

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28783042%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

George Elias

21

1 reference

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8 June 2020

Andrea Kurotova

22

1 reference

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8 June 2020

Ann Vander Auwera

23

1 reference

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8 June 2020

Lieve Verstraete

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28783042%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Lieven Lagae

25

1 reference

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8 June 2020

Helene Verhelst

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28783042%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Jose Ramet

28

1 reference

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8 June 2020

Arvid Suls

29

1 reference

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8 June 2020

Berten Ceulemans

31

1 reference

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8 June 2020

Lut Van Laer

32

1 reference

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8 June 2020

Genevieve Plat Wilson

33

1 reference

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8 June 2020

Jonas Kreth

34

1 reference

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8 June 2020

Horst Von Bernuth

36

1 reference

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8 June 2020

Joël Fluss

37

1 reference

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8 June 2020

Stephane Chabrier

38

1 reference

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8 June 2020

Geert Mortier

40

1 reference

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8 June 2020

Sebastien Fribourg

41

1 reference

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8 June 2020

language of work or name

English

0 references

publication date

7 August 2017

1 reference

http://europepmc.org/abstract/PMC/5669568

3 March 2018

published in

Journal of Clinical Investigation

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28783042%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

volume

127

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28783042%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

page(s)

3543-3556

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28783042%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28783042%20AND%20SRC:MED&resulttype=core&format=json

The mutation significance cutoff: gene-level thresholds for variant predictions

8 June 2020

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Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.

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Cyclic GMP-AMP synthase is a cytosolic DNA sensor that activates the type I interferon pathway

23 June 2018

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Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood

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Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency

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Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy

23 June 2018

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Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy

23 June 2018

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Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy

23 June 2018

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NEMO is a key component of NF-κB- and IRF-3-dependent TLR3-mediated immunity to herpes simplex virus.

23 June 2018

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Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

23 June 2018

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Varicella-zoster virus infections in immunocompromised patients - a single centre 6-years analysis

23 June 2018

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Structure-function analysis of hRPC62 provides insights into RNA polymerase III transcription initiation

23 June 2018

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Varicella-zoster virus transcriptome in latently infected human ganglia

23 June 2018

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23 June 2018

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Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis

23 June 2018

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23 June 2018

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23 June 2018

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23 June 2018

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RNA polymerase III detects cytosolic DNA and induces type I interferons through the RIG-I pathway

23 June 2018

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23 June 2018

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23 June 2018

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Antiviral therapy for herpesvirus central nervous system infections: neonatal herpes simplex virus infection, herpes simplex encephalitis, and congenital cytomegalovirus infection

23 June 2018

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Pathogen recognition and inflammatory signaling in innate immune defenses

23 June 2018

1 reference

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TLR3 deficiency in patients with herpes simplex encephalitis

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5669568

Varicella-zoster virus transfer to skin by T Cells and modulation of viral replication by epidermal cell interferon-alpha

23 June 2018

1 reference

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23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5669568

A Toll-like receptor recognizes bacterial DNA

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5669568

Listeria monocytogenes and recurrent mycobacterial infections in a child with complete interferon-gamma-receptor (IFNgammaR1) deficiency: mutational analysis and evaluation of therapeutic options

23 June 2018

1 reference

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Three human RNA polymerase III-specific subunits form a subcomplex with a selective function in specific transcription initiation

23 June 2018

1 reference

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A novel X-linked combined immunodeficiency disease

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5669568

Severe herpesvirus infections in an adolescent without natural killer cells

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5669568

Increased DNA synthesis of uninvolved psoriatic epidermis is maintained in vitro

31 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28783042

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1172/JCI92280

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28783042%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28783042%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

1 reference