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

Mosaic variants in TNFRSF1A: an emerging cause of tumour necrosis factor receptor-associated periodic syndrome.

Rheumatology (Oxford, England) - 23 Dec 2022

Assrawi Eman, Louvrier Camille, El Khouri Elma, Delaleu Jérémie, Copin Bruno, Dastot-Le Moal Florence, Piterboth William, Legendre Marie, Karabina Sonia A, Grateau Gilles, Amselem Serge, Giurgea Irina

Abstract excerpt

OBJECTIVE: To identify the molecular basis of a systemic autoinflammatory disorder (SAID) evocative of TNF receptor-associated periodic syndrome (TRAPS). METHODS: (i) Deep next generation sequencing (NGS) through a SAID gene panel; (ii) variant allele distribution in peripheral blood subpopulations; (iii) in silico analyses of mosaic variants using TNF receptor superfamily 1A (TNFRSF1A) crystal structure; (iv)...

Read the complete abstract on PubMed

Topics

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

Share to Cysteine
Share to Fever

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hereditary Autoinflammatory Diseases

Share to Mutation

Share to Receptors, Tumor Necrosis Factor, Type I

Source

Identifiers

PMID: 35640127
DOI: 10.1093/rheumatology/keac274

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mosaic variants in TNFRSF1A: an emerging cause of tumour necrosis factor receptor-associated periodic syndrome.PMID 35640127Read ↗

Somatic mosaicism in adult‐onset TNF receptor‐associated periodic syndrome (TRAPS)Semantic proximity Read ↗

Brief Report: Association of Tumor Necrosis Factor Receptor–Associated Periodic Syndrome With Gonosomal Mosaicism of a Novel 24‐Nucleotide <i>TNFRSF1A</i> DeletionSemantic proximity Read ↗

The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers.Semantic proximity Read ↗

A novel TNFRSF1A splice mutation associated with increased nuclear factor kappaB (NF-kappaB) transcription factor activation in patients with tumour necrosis factor receptor associated periodic syndrome (TRAPS).Semantic proximity Read ↗

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

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

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

A new low-penetrance TNFRSF1A mutation causing atypical periodic fever.Semantic proximity Read ↗

TNF-receptor-associated periodic syndrome (TRAPS): an autosomal dominant multisystem disorder.Semantic proximity Read ↗

An Israeli Arab patient with a de novo TNFRSF1A mutation causing tumor necrosis factor receptor-associated periodic syndrome.Semantic proximity Read ↗

The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome.Semantic proximity Read ↗

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