(Q40119340)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28716935%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

title

Severe viral respiratory infections in children with IFIH1 loss-of-function mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28716935%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28716935%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Samira Asgari

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28716935%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Luregn J. Schlapbach

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28716935%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Istvan Bartha

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28716935%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Samuel Cordey

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28716935%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Debbie Long

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28716935%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Andreas Schibler

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28716935%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Amalio Telenti

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28716935%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Paul J. McLaren

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28716935%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Jacques Fellay

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28716935%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

author name string

Stéphanie Anchisi

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28716935%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Christian Hammer

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28716935%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Thomas Junier

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28716935%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Geneviève Mottet-Osman

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28716935%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Klara M Posfay-Barbe

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28716935%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

David Longchamp

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28716935%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Martin Stocker

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28716935%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Laurent Kaiser

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28716935%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Thomas Riedel

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28716935%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Caroline Tapparel

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28716935%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Dominique Garcin

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28716935%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

language of work or name

English

0 references

publication date

17 July 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28716935%20AND%20SRC:MED&resulttype=core&format=json

Proceedings of the National Academy of Sciences of the United States of America

25 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28716935%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

volume

114

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28716935%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

issue

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28716935%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

page(s)

8342-8347

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28716935%20AND%20SRC:MED&resulttype=core&format=json

Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.

25 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

The A946T variant of the RNA sensor IFIH1 mediates an interferon program that limits viral infection but increases the risk for autoimmunity.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

Loss of RIG-I leads to a functional replacement with MDA5 in the Chinese tree shrew

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

Analysis of protein-coding genetic variation in 60,706 humans

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

Viral Bronchiolitis in Children

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

TYK2 protein-coding variants protect against rheumatoid arthritis and autoimmunity, with no evidence of major pleiotropic effects on non-autoimmune complex traits

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

Community-acquired pneumonia requiring hospitalization among U.S. children

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

TLR3 deficiency in herpes simplex encephalitis: high allelic heterogeneity and recurrence risk

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

Global, regional, and national causes of child mortality in 2000-13, with projections to inform post-2015 priorities: an updated systematic analysis

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

Polymorphisms in melanoma differentiation-associated gene 5 link protein function to clearance of hepatitis C virus

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

Induction and suppression of innate antiviral responses by picornaviruses

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

Aicardi-Goutières syndrome is caused by IFIH1 mutations.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

Genome sequencing identifies major causes of severe intellectual disability

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

Discovery of single-gene inborn errors of immunity by next generation sequencing

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

Parts, assembly and operation of the RIG-I family of motors

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

Sustained activation of interferon regulatory factor 3 during infection by paramyxoviruses requires MDA5.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

Predictors of severity and mortality in children hospitalized with respiratory syncytial virus infection in a tropical region

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

Global and regional burden of hospital admissions for severe acute lower respiratory infections in young children in 2010: a systematic analysis

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

Critical role of MDA5 in the interferon response induced by human metapneumovirus infection in dendritic cells and in vivo

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

The role of infections and coinfections with newly identified and emerging respiratory viruses in children.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

MDA5 assembles into a polar helical filament on dsRNA.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

Sensing of RNA viruses: a review of innate immune receptors involved in recognizing RNA virus invasion

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

Immune signaling by RIG-I-like receptors

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

Co-ordinated role of TLR3, RIG-I and MDA5 in the innate response to rhinovirus in bronchial epithelium

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

Interferon induced with helicase C domain 1 (IFIH1) and virus-induced autoimmunity: a review

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

Melanoma Differentiation-Associated Gene 5 (MDA5) Is Involved in the Innate Immune Response to Paramyxoviridae Infection In Vivo

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

Solution structures of cytosolic RNA sensor MDA5 and LGP2 C-terminal domains: identification of the RNA recognition loop in RIG-I-like receptors

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

Differential type I IFN-inducing abilities of wild-type versus vaccine strains of measles virus

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

Distinct RIG-I and MDA5 Signaling by RNA Viruses in Innate Immunity

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

MDA-5 is cleaved in poliovirus-infected cells

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

Essential role of mda-5 in type I IFN responses to polyriboinosinic:polyribocytidylic acid and encephalomyocarditis picornavirus

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

Differential roles of MDA5 and RIG-I helicases in the recognition of RNA viruses

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

Robust hepatitis C virus infection in vitro

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5547624

Loss-of-function mutations E6 27X and I923V of IFIH1 are associated with lower poly(I:C)-induced interferon-β production in peripheral blood mononuclear cells of type 1 diabetes patients

22 September 2017

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28716935

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

IFIH1 gene polymorphisms in type 1 diabetes: genetic association analysis and genotype-phenotype correlation in Chinese Han population

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28716935

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.1704259114

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28716935%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28716935%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

PubMed publication ID

28716935

1 reference