(Q37732141)

22 August 2017

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling (English)

1 reference

22 August 2017

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Brigitte Bader-Meunier

7

1 reference

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12 June 2020

Roberta Battini

9

1 reference

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12 June 2020

Rolando Cimaz

13

1 reference

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12 June 2020

Elisa Fazzi

21

1 reference

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12 June 2020

Iain McInnes

31

1 reference

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12 June 2020

Simona Orcesi

35

1 reference

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12 June 2020

Chris Scott

41

1 reference

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12 June 2020

Adeline Vanderver

44

1 reference

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12 June 2020

Kate Webb

47

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Simon G Williams

49

1 reference

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12 June 2020

Yanick J. Crow

53

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

author name string

Yoandris Del Toro Duany

2

1 reference

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12 June 2020

Emma M Jenkinson

3

1 reference

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12 June 2020

Gabriella Ma Forte

4

1 reference

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12 June 2020

Beverley H Anderson

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Giada Ariaudo

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Eileen M Baildam

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Michael W Beresford

10

1 reference

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12 June 2020

Manuela Casarano

11

1 reference

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12 June 2020

Mondher Chouchane

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Abigail E Collins

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Nuno Jv Cordeiro

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Russell C Dale

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Joyce E Davidson

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Liesbeth De Waele

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Isabelle Desguerre

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Laurence Faivre

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Bertrand Isidor

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Lieven Lagae

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Andrew R Latchman

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Pierre Lebon

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Chumei Li

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

John H Livingston

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Charles M Lourenço

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Maria Margherita Mancardi

29

1 reference

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12 June 2020

Alice Masurel-Paulet

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Manoj P Menezes

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Cyril Mignot

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

James O'Sullivan

34

1 reference

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12 June 2020

Enrica Riva

37

1 reference

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12 June 2020

Robert A Robinson

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Diana Rodriguez

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Elisabetta Salvatici

40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Marta Szybowska

42

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

John L Tolmie

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Catherine Vanhulle

45

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Jose Pedro Vieira

46

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Robyn N Whitney

48

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Lynne A Wolfe

50

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Sameer M Zuberi

51

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Sun Hur

52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Paolo P Picco

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

language of work or name

English

0 references

publication date

30 March 2014

1 reference

22 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

volume

46

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

page(s)

503-509

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ng.2933

12 June 2020

exact match

0 references

cites work

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23 August 2017

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Structural basis for dsRNA recognition, filament formation, and antiviral signal activation by MDA5

23 August 2017

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23 August 2017

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23 August 2017

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

23 August 2017

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Ifih1 gene dose effect reveals MDA5-mediated chronic type I IFN gene signature, viral resistance, and accelerated autoimmunity

23 August 2017

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Cooperative assembly and dynamic disassembly of MDA5 filaments for viral dsRNA recognition

23 August 2017

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Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

23 August 2017

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

23 August 2017

1 reference

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

23 August 2017

1 reference

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Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes

23 August 2017

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Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome

23 August 2017

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

23 August 2017

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

23 August 2017

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Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation

23 August 2017

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Interferon and granulopoiesis signatures in systemic lupus erythematosus blood

23 August 2017

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Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus

23 August 2017

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Association of IFIH1 rs1990760 polymorphism with susceptibility to autoimmune diseases: a meta-analysis

23 August 2017

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6 September 2017

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23 June 2018

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23 June 2018

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INTERFERON-INDUCED DISEASE IN MICE AND RATS

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Type I interferonopathies: a novel set of inborn errors of immunity

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Lethality of interferon preparations for newborn mice

21 January 2018

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Identifiers

DOI

10.1038/NG.2933

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24686847%20AND%20SRC:MED&resulttype=core&format=json