Expanding the spectrum of A20 haploinsufficiency in two Chinese families: cases report
Published 2019 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Expanding the spectrum of A20 haploinsufficiency in two Chinese families: cases report
Authors
Keywords
A20 haploinsufficiency, Hypothyroidism, Interstitial lung disease, Liver fibrosis, Macrophage activation syndrome, <em class="EmphasisTypeItalic ">TNFAIP3</em> gene
Journal
BMC Medical Genetics
Volume 20, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2019-07-12
DOI
10.1186/s12881-019-0856-1
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease
- (2018) Florence A Aeschlimann et al. ANNALS OF THE RHEUMATIC DISEASES
- Autosomic dominant familial Behçet disease and haploinsufficiency A20: A review of the literature
- (2018) Florian Berteau et al. AUTOIMMUNITY REVIEWS
- Gene mutation analysis in 12 Chinese children with congenital nephrotic syndrome
- (2018) Guo-min Li et al. BMC Nephrology
- NF-κB Pathway in Autoinflammatory Diseases: Dysregulation of Protein Modifications by Ubiquitin Defines a New Category of Autoinflammatory Diseases
- (2017) Ivona Aksentijevich et al. Frontiers in Immunology
- A20 Inhibits β-Cell Apoptosis by Multiple Mechanisms and Predicts Residual β-Cell Function in Type 1 Diabetes
- (2016) Makiko Fukaya et al. MOLECULAR ENDOCRINOLOGY
- Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease
- (2015) Qing Zhou et al. NATURE GENETICS
- Connective Tissue Disease-Associated Interstitial Lung Disease
- (2013) Joshua J. Solomon et al. JOURNAL OF INTENSIVE CARE MEDICINE
- A20 Ubiquitin Ligase–Mediated Polyubiquitination of RIP1 Inhibits Caspase-8 Cleavage and TRAIL-Induced Apoptosis in Glioblastoma
- (2012) Anita C. Bellail et al. Cancer Discovery
- A failure of TNFAIP3 negative regulation maintains sustained NF-κB activation in Sjögren’s syndrome
- (2011) Margherita Sisto et al. HISTOCHEMISTRY AND CELL BIOLOGY
- TNFAIP3 Gene Polymorphisms Are Associated with Response to TNF Blockade in Psoriasis
- (2011) Trilokraj Tejasvi et al. JOURNAL OF INVESTIGATIVE DERMATOLOGY
- Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus
- (2011) Indra Adrianto et al. NATURE GENETICS
- Expression, biological activities and mechanisms of action of A20 (TNFAIP3)
- (2010) Lynn Verstrepen et al. BIOCHEMICAL PHARMACOLOGY
- Inhibition of NF- B Signaling by A20 Through Disruption of Ubiquitin Enzyme Complexes
- (2010) N. Shembade et al. SCIENCE
- The zinc finger protein A20 targets TRAF2 to the lysosomes for degradation
- (2008) Lianyun Li et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
- A20: Central Gatekeeper in Inflammation and Immunity
- (2008) Beatrice Coornaert et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus
- (2008) Robert R Graham et al. NATURE GENETICS
- Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus
- (2008) Stacy L Musone et al. NATURE GENETICS
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreFind the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
Search