Title |
Disease causing mutations in the TNF and TNFR superfamilies: Focus on molecular mechanisms driving disease
|
---|---|
Published in |
Trends in Molecular Medicine, July 2011
|
DOI | 10.1016/j.molmed.2011.05.006 |
Pubmed ID | |
Authors |
Adrian A. Lobito, Tanit L. Gabriel, Jan Paul Medema, Fiona C. Kimberley |
Abstract |
The tumor necrosis factor (TNF) and TNF receptor (TNFR) superfamilies comprise multidomain proteins with diverse roles in cell activation, proliferation and cell death. These proteins play pivotal roles in the initiation, maintenance and termination of immune responses and have vital roles outside the immune system. The discovery and analysis of diseases associated with mutations in these families has revealed crucial mechanistic details of their normal functions. This review focuses on mutations causing four different diseases, which represent distinct pathological mechanisms that can exist within these superfamilies: autoimmune lymphoproliferative syndrome (ALPS; FAS mutations), common variable immunodeficiency (CVID; TACI mutations), tumor necrosis factor receptor associated periodic syndrome (TRAPS; TNFR1 mutations) and hypohidrotic ectodermal dysplasia (HED; EDA1/EDAR mutations). In particular, we highlight how mutations have revealed information about normal receptor-ligand function and how such studies might direct new therapeutic approaches. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United Kingdom | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Science communicators (journalists, bloggers, editors) | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Japan | 1 | 1% |
Spain | 1 | 1% |
Germany | 1 | 1% |
Belgium | 1 | 1% |
Unknown | 94 | 96% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 25 | 26% |
Student > Ph. D. Student | 15 | 15% |
Student > Master | 10 | 10% |
Student > Bachelor | 8 | 8% |
Student > Doctoral Student | 7 | 7% |
Other | 20 | 20% |
Unknown | 13 | 13% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 31 | 32% |
Medicine and Dentistry | 26 | 27% |
Immunology and Microbiology | 10 | 10% |
Biochemistry, Genetics and Molecular Biology | 7 | 7% |
Nursing and Health Professions | 2 | 2% |
Other | 5 | 5% |
Unknown | 17 | 17% |