(Q30090228)

17 August 2017

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome (English)

1 reference

Ubiquitin specific peptidase 18

17 August 2017

1 reference

regulation of inflammatory response

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

type 1 interferonopathy

1 reference

based on heuristic

inferred from title

pseudo-TORCH syndrome

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27325888%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Rachel Schot

2

1 reference

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9 June 2020

Sofija Buta

3

1 reference

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9 June 2020

Sigrid Tinschert

5

1 reference

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9 June 2020

Scott D Speer

6

1 reference

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9 June 2020

Zhi Li

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27325888%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Leontine van Unen

8

1 reference

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9 June 2020

Tobias Goldmann

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27325888%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Maarten Lequin

11

1 reference

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9 June 2020

Johan M Kros

12

1 reference

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9 June 2020

Wendy Stam

13

1 reference

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9 June 2020

Martin Hermann

14

1 reference

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9 June 2020

Wilfred F J van IJcken

17

1 reference

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9 June 2020

Marta Martín-Fernández

18

1 reference

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9 June 2020

René de Coo

19

1 reference

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9 June 2020

Jeroen Dudink

20

1 reference

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9 June 2020

Femke A T de Vries

21

1 reference

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9 June 2020

Yanick J. Crow

24

1 reference

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9 June 2020

Sandra Pellegrini

26

1 reference

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9 June 2020

23

Marco Prinz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27325888%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

author name string

Grétel Oudesluijs

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27325888%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Daphne Heijsman

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27325888%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Rob Willemsen

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27325888%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Rutger W W Brouwer

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27325888%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Aida Bertoli Avella

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27325888%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Frans W Verheijen

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27325888%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Dusan Bogunovic

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27325888%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Grazia M S Mancini

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27325888%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

language of work or name

English

0 references

publication date

20 June 2016

1 reference

Journal of Experimental Medicine

17 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27325888%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

volume

213

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27325888%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27325888%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

page(s)

1163-1174

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27325888%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

9 June 2020

ImageQuant

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4925017/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

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USP18 lack in microglia causes destructive interferonopathy of the mouse brain

3 June 2018

1 reference

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The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.

3 June 2018

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Type I interferonopathies: mendelian type I interferon up-regulation

3 June 2018

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Aberrant fetal macrophage/microglial reactions to cytomegalovirus infection.

3 June 2018

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Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

3 June 2018

1 reference

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Activated STING in a vascular and pulmonary syndrome

3 June 2018

1 reference

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

3 June 2018

1 reference

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Lymphocytic choriomeningitis virus: an underrecognized cause of neurologic disease in the fetus, child, and adult

3 June 2018

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NARWHAL, a primary analysis pipeline for NGS data.

3 June 2018

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Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors

3 June 2018

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Interferon-stimulated gene 15 and the protein ISGylation system

3 June 2018

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

3 June 2018

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

3 June 2018

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Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity

3 June 2018

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Fetal infections and brain development

3 June 2018

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Fast and accurate short read alignment with Burrows-Wheeler transform

3 June 2018

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The MIQE guidelines: minimum information for publication of quantitative real-time PCR experiments

3 June 2018

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UBP43 is a novel regulator of interferon signaling independent of its ISG15 isopeptidase activity

3 June 2018

1 reference

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easyLINKAGE-Plus--automated linkage analyses using large-scale SNP data

3 June 2018

1 reference

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Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome)

3 June 2018

1 reference

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Dysregulation of protein modification by ISG15 results in brain cell injury

3 June 2018

1 reference

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Pseudo-TORCH syndrome or Baraitser-Reardon syndrome: diagnostic criteria

3 June 2018

1 reference

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TORCH infections in the newborn

3 June 2018

1 reference

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

3 June 2018

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Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results

3 June 2018

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3 June 2018

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3 June 2018

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STING-Associated Vasculopathy with Onset in Infancy — A New Interferonopathy

3 June 2018

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Crossref

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INTERFERON-INDUCED DISEASE IN MICE AND RATS

21 January 2018

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USP18 establishes the transcriptional and anti-proliferative interferon α/β differential

21 January 2018

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21 January 2018

Identifiers

DOI

10.1084/JEM.20151529

1 reference

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9 June 2020

1 reference

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9 June 2020

1 reference