Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Disease causing mutations in the TNF and TNFR superfamilies: Focus on molecular mechanisms driving disease.

Trends in molecular medicine - 1 Sept 2011

Lobito Adrian A, Gabriel Tanit L, Medema Jan Paul, Kimberley Fiona C

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Autoimmune Lymphoproliferative Syndrome
Share to Common Variable Immunodeficiency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Edar Receptor

Share to Hereditary Autoinflammatory Diseases

Share to Receptors, Tumor Necrosis Factor

Share to Receptors, Tumor Necrosis Factor, Type I

Share to Transmembrane Activator and CAML Interactor Protein

Source

Identifiers

PMID: 21724465
DOI: 10.1016/j.molmed.2011.05.006

Genes

TNF
EDAR
FAS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Disease causing mutations in the TNF and TNFR superfamilies: Focus on molecular mechanisms driving disease.PMID 21724465Read ↗

Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives.Semantic proximity Read ↗

Functional consequences of disease-associated mutations in TNFR1 elucidated by transcriptome analysis.Semantic proximity Read ↗

Falling into TRAPS – receptor misfolding in the TNF receptor 1-associated periodic fever syndromeSemantic proximity Read ↗

The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder.Semantic proximity Read ↗

The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry.Semantic proximity Read ↗

Structural and biological features of the TNF receptor and TNF ligand superfamilies: Interactive signals in the pathobiology of Hodgkin's diseaseSemantic proximity Read ↗

Autoimmune lymphoproliferative syndrome: molecular basis of disease and clinical phenotype.Semantic proximity Read ↗

TRNT1 missense mutations define an autoinflammatory disease characterized by recurrent fever, severe anemia, and b-cell immunodeficiencySemantic proximity Read ↗

How (Ultra‐)Rare Gene Variants Improve Our Understanding of More Common Autoimmune and Inflammatory DiseasesSemantic proximity Read ↗

TNFRSF1A mutations and autoinflammatory syndromes.Semantic proximity Read ↗

Candidate genes in patients with autoinflammatory syndrome resembling tumor necrosis factor receptor-associated periodic syndrome without mutations in the TNFRSF1A gene.Semantic proximity Read ↗

Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.