(Q36649404)

15 August 2017

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease (English)

1 reference

15 August 2017

0 references

Daniella M Schwartz

3

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Yuan Zhang

Yuan Zhang

6

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Eric P. Hanson

Eric P Hanson

18

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Jonathan J. Lyons

Jonathan J Lyons

11

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Ezgi D. Batu

Ezgi D Batu

31

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James C Mullikin

20

James C Mullikin

1 reference

15 August 2017

41

Ivona Aksentijevich

1 reference

15 August 2017

40

Daniel L Kastner

1 reference

15 August 2017

36

Seza Ozen

1 reference

15 August 2017

8

Erkan Demirkaya

1 reference

15 August 2017

33

Richard M Siegel

1 reference

15 August 2017

37

Massimo Gadina

1 reference

15 August 2017

27

Beverly K Barham

1 reference

15 August 2017

10

Wanxia Li Tsai

1 reference

15 August 2017

5

Yong Hwan Park

1 reference

15 August 2017

23

Amanda K Ombrello

1 reference

15 August 2017

35

Joshua D Milner

1 reference

15 August 2017

34

Manfred Boehm

1 reference

15 August 2017

25

Patrycja Hoffmann

1 reference

15 August 2017

15

David T Chin

1 reference

15 August 2017

4

Monique Stoffels

1 reference

15 August 2017

16

Kristien Zaal

1 reference

Settara C Chandrasekharappa

15 August 2017

17

Settara C Chandrasekharappa

1 reference

15 August 2017

21

Sarfaraz A Hasni

1 reference

15 August 2017

28

Helen L Leavis

1 reference

15 August 2017

Annet van Royen-Kerkof

29

Annet van Royen-Kerkof

1 reference

15 August 2017

32

Ahmet Gül

1 reference

15 August 2017

38

JaeJin Chae

1 reference

15 August 2017

39

Ronald M Laxer

1 reference

15 August 2017

Qing Zhou

1

1 reference

15 August 2017

Hongying Wang

2

1 reference

15 August 2017

Dan Yang

7

1 reference

15 August 2017

Masaki Takeuchi

9

1 reference

15 August 2017

Xiaomin Yu

12

1 reference

15 August 2017

Claudia Ouyang

13

1 reference

15 August 2017

Celeste Chen

14

1 reference

15 August 2017

Zhen Yu

19

1 reference

15 August 2017

Ingrid E Wertz

22

1 reference

15 August 2017

Deborah L Stone

24

1 reference

15 August 2017

Anne Jones

26

1 reference

15 August 2017

Cailin Sibley

30

1 reference

15 August 2017

language of work or name

English

0 references

publication date

7 December 2015

1 reference

15 August 2017

1 reference

15 August 2017

48

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15 August 2017

67-73

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15 August 2017

1

1 reference

describes a project that uses

15 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4777523/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

exact match

https://scigraph.springernature.com/pub.10.1038/ng.3459

0 references

cites work

Farm dust and endotoxin protect against allergy through A20 induction in lung epithelial cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

Perception of self: distinguishing autoimmunity from autoinflammation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

Monogenic autoinflammatory diseases: Cytokinopathies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

A small-molecule inhibitor of the NLRP3 inflammasome for the treatment of inflammatory diseases.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

A20 restricts ubiquitination of pro-interleukin-1β protein complexes and suppresses NLRP3 inflammasome activity

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

Meta-analysis of the TNFAIP3 region in psoriasis reveals a risk haplotype that is distinct from other autoimmune diseases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

New players driving inflammation in monogenic autoinflammatory diseases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

Negative regulation of the NLRP3 inflammasome by A20 protects against arthritis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

Monogenic autoinflammatory diseases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

Early-onset stroke and vasculopathy associated with mutations in ADA2

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

IL-1 blockade in autoinflammatory syndromes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

A20 in inflammation and autoimmunity

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

Dimerization and ubiquitin mediated recruitment of A20, a complex deubiquitinating enzyme.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

Antibody deficiency associated with an inherited autosomal dominant mutation in TWEAK.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

The calcium-sensing receptor regulates the NLRP3 inflammasome through Ca2+ and cAMP.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

A20: linking a complex regulator of ubiquitylation to immunity and human disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

Dendritic cells from humans with hypomorphic mutations in IKBKG/NEMO have impaired mitogen-activated protein kinase activity

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

Ubiquitin binding to A20 ZnF4 is required for modulation of NF-κB signaling

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

The ubiquitin modifying enzyme A20 restricts B cell survival and prevents autoimmunity.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

African-derived genetic polymorphisms in TNFAIP3 mediate risk for autoimmunity

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

A20: from ubiquitin editing to tumour suppression

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

Frequent inactivation of A20 in B-cell lymphomas

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

A20 takes on tumors: tumor suppression by an ubiquitin-editing enzyme

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

A20: central gatekeeper in inflammation and immunity

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

Localization of A20 to a lysosome-associated compartment and its role in NFkappaB signaling

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

Two independent alleles at 6q23 associated with risk of rheumatoid arthritis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

Rheumatoid arthritis association at 6q23.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

Parkin mediates nonclassical, proteasomal-independent ubiquitination of synphilin-1: implications for Lewy body formation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

De-ubiquitination and ubiquitin ligase domains of A20 downregulate NF-kappaB signalling

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

Cbl promotes ubiquitination of the T cell receptor zeta through an adaptor function of Zap-70.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

Failure to regulate TNF-induced NF-kappaB and cell death responses in A20-deficient mice

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

Immunology. Autoimmunity by haploinsufficiency

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

A20 (TNFAIP3) deficiency in myeloid cells triggers erosive polyarthritis resembling rheumatoid arthritis.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

Sequencing of TNFAIP3 and association of variants with multiple autoimmune diseases.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

Analysis of 17 autoimmune disease-associated variants in type 1 diabetes identifies 6q23/TNFAIP3 as a susceptibility locus

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4777523

A20 edits ubiquitin and autoimmune paradigms

21 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26642243

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.3459

1 reference

15 August 2017

1 reference

15 August 2017

1 reference