(Q64885040)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31164164%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

title

Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet's disease (English)

1 reference

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30 April 2020

1 reference

hereditary pediatric Behçet-like disease

1 reference

2

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30 April 2020

Atsushi Takata

15

1 reference

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30 April 2020

4

Masafumi Onodera

1 reference

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30 April 2020

author name string

Naomi Tsuchida

1

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30 April 2020

Yutaro Soejima

3

1 reference

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30 April 2020

Katsuhiro Arai

5

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30 April 2020

Eiichiro Tamura

6

1 reference

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30 April 2020

Takashi Ishikawa

7

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30 April 2020

Toshinao Kawai

8

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30 April 2020

Toru Uchiyama

9

1 reference

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30 April 2020

Shigeru Nomura

10

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30 April 2020

Daisuke Kobayashi

11

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30 April 2020

Masataka Taguri

12

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30 April 2020

Satomi Mitsuhashi

13

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30 April 2020

Takeshi Mizuguchi

14

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30 April 2020

Noriko Miyake

16

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30 April 2020

Hideaki Nakajima

17

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30 April 2020

Satoko Miyatake

18

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30 April 2020

Naomichi Matsumoto

19

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30 April 2020

publication date

4 June 2019

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Arthritis Research and Therapy

30 April 2020

published in

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30 April 2020

volume

21

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30 April 2020

issue

1

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30 April 2020

page(s)

137

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Criteria for diagnosis of Behçet's disease. International Study Group for Behçet's Disease

30 April 2020

cites work

1 reference

12 December 2020

1 reference

12 December 2020

Perp is a p63-regulated gene essential for epithelial integrity.

1 reference

12 December 2020

Adult mice lacking the p53/p63 target gene Perp are not predisposed to spontaneous tumorigenesis but display features of ectodermal dysplasia syndromes

1 reference

12 December 2020

Accurate and exact CNV identification from targeted high-throughput sequence data

1 reference

12 December 2020

Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth

1 reference

12 December 2020

Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1

1 reference

12 December 2020

An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome

1 reference

12 December 2020

Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation

1 reference

12 December 2020

Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach

1 reference

12 December 2020

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

1 reference

12 December 2020

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

1 reference

12 December 2020

Consensus classification criteria for paediatric Behçet's disease from a prospective observational cohort: PEDBD.

1 reference

12 December 2020

Mechanism and regulation of the nonsense-mediated decay pathway

1 reference

12 December 2020

Novel heterozygous C243Y A20/TNFAIP3 gene mutation is responsible for chronic inflammation in autosomal-dominant Behçet's disease

1 reference

12 December 2020

A Japanese family case with juvenile onset Behçet's disease caused by TNFAIP3 mutation.

1 reference

12 December 2020

Continuous evolution of clinical phenotype in 578 Japanese patients with Behçet's disease: a retrospective observational study

1 reference

12 December 2020

Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome.

1 reference

12 December 2020

Human RELA haploinsufficiency results in autosomal-dominant chronic mucocutaneous ulceration.

1 reference

12 December 2020

Early-onset autoimmune disease due to a heterozygous loss-of-function mutation in TNFAIP3 (A20).

1 reference

12 December 2020

Detection of copy number variations in epilepsy using exome data.

1 reference

12 December 2020

A novel mutation in SLC1A3 causes episodic ataxia.

1 reference

12 December 2020

Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders.

1 reference

12 December 2020

A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease

1 reference

12 December 2020

TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6.

1 reference

12 December 2020

Infantile Onset Intractable Inflammatory Bowel Disease Due to Novel Heterozygous Mutations in TNFAIP3 (A20)

1 reference

12 December 2020

Autosomic dominant familial Behçet disease and haploinsufficiency A20: A review of the literature

1 reference

12 December 2020

A Case of Adult-Onset Still’s Disease Caused by a Novel Splicing Mutation in TNFAIP3 Successfully Treated With Tocilizumab.

1 reference

12 December 2020

10.1186/S13075-019-1928-5

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31164164%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

1 reference

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30 April 2020

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