Functional analysis of a novel G87V TNFRSF1A mutation in patients with TNF receptor‐associated periodic syndrome

Sh3bp2 Gain-Of-Function Mutation Ameliorates Lupus Phenotypes in B6.MRL-Faslpr Mice

(2019) Akiko Nagasu et al.   Cells

Patients with tumour necrosis factor (TNF) receptor‐associated periodic syndrome (TRAPS) are hypersensitive to Toll‐like receptor 9 stimulation

(2019) O. H. Negm et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Pharmacological inhibition of tankyrase induces bone loss in mice by increasing osteoclastogenesis

(2018) Shunichi Fujita et al.   BONE

Autophagy dysfunction in autoinflammatory diseases

(2018) Yichao Hua et al.   JOURNAL OF AUTOIMMUNITY

Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes

(2018) Fabrizio De Benedetti et al.   NEW ENGLAND JOURNAL OF MEDICINE

Cytokine Profile and Immunoglobulin E-mediated Serological Food Hypersensitivity in Patients With Irritable Bowel Syndrome With Diarrhea

(2018) Ryo Katsumata et al.   Journal of Neurogastroenterology and Motility

Inositol-Requiring Enzyme 1-Mediated Downregulation of MicroRNA (miR)-146a and miR-155 in Primary Dermal Fibroblasts across Three TNFRSF1A Mutations Results in Hyperresponsiveness to Lipopolysaccharide

(2018) Stephanie R. Harrison et al.   Frontiers in Immunology

Tumor Necrosis Factor Receptor-Associated Factor Regulation of Nuclear Factor κB and Mitogen-Activated Protein Kinase Pathways

(2018) Jian-Hong Shi et al.   Frontiers in Immunology

Canakinumab treatment for patients with active recurrent or chronic TNF receptor-associated periodic syndrome (TRAPS): an open-label, phase II study

(2016) Marco Gattorno et al.   ANNALS OF THE RHEUMATIC DISEASES

Transmembrane Protein 184A Is a Receptor Required for Vascular Smooth Muscle Cell Responses to Heparin

(2016) Raymond J. Pugh et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Clinical and Genetic Features of Patients With TNFRSF1A Variants in Japan: Findings of a Nationwide Survey

(2016) Naoyasu Ueda et al.   Arthritis & Rheumatology

Differential impact of high and low penetrance TNFRSF1A gene mutations on conventional and regulatory CD4+ T cell functions in TNFR1-associated periodic syndrome

(2015) Valentina Pucino et al.   JOURNAL OF LEUKOCYTE BIOLOGY

The novel S59P mutation in the TNFRSF1A gene identified in an adult onset TNF receptor associated periodic syndrome (TRAPS) constitutively activates NF-κB pathway

(2015) Eliana Greco et al.   ARTHRITIS RESEARCH & THERAPY

Loss of SH3 Domain-Binding Protein 2 Function Suppresses Bone Destruction in Tumor Necrosis Factor-Driven and Collagen-Induced Arthritis in Mice

(2015) Tomoyuki Mukai et al.   Arthritis & Rheumatology

SH3BP2 Cherubism Mutation Potentiates TNF-α-Induced Osteoclastogenesis via NFATc1 and TNF-α-Mediated Inflammatory Bone Loss

(2014) Tomoyuki Mukai et al.   JOURNAL OF BONE AND MINERAL RESEARCH

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

(2013) H J Lachmann et al.   ANNALS OF THE RHEUMATIC DISEASES

A clinical guide to autoinflammatory diseases: familial Mediterranean fever and next-of-kin

(2013) Seza Ozen et al.   Nature Reviews Rheumatology

The expanding spectrum of low-penetrance TNFRSF1A gene variants in adults presenting with recurrent inflammatory attacks: Clinical manifestations and long-term follow-up

(2013) Luca Cantarini et al.   SEMINARS IN ARTHRITIS AND RHEUMATISM

Autophagy contributes to inflammation in patients with TNFR-associated periodic syndrome (TRAPS)

(2012) Tiziana Bachetti et al.   ANNALS OF THE RHEUMATIC DISEASES

Involvement of X-box binding protein 1 and reactive oxygen species pathways in the pathogenesis of tumour necrosis factor receptor-associated periodic syndrome

(2012) Laura J Dickie et al.   ANNALS OF THE RHEUMATIC DISEASES

Thymic stromal lymphopoietin (TSLP)-induced polyclonal B-cell activation and autoimmunity are mediated by CD4+ T cells and IL-4

(2012) M. Iseki et al.   INTERNATIONAL IMMUNOLOGY

Successful treatment of a patient with tumor necrosis factor receptor-associated periodic syndrome using a half-dose of etanercept

(2012) Koichi Kusuhara et al.   PEDIATRICS INTERNATIONAL

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene

(2011) M. A. Pelagatti et al.   ARTHRITIS AND RHEUMATISM

High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: Results of an international multicenter collaborative study

(2011) Naoko Tanaka et al.   ARTHRITIS AND RHEUMATISM

Tumour necrosis factor receptor trafficking dysfunction opens the TRAPS door to pro-inflammatory cytokine secretion

(2011) Mark D. Turner et al.   BIOSCIENCE REPORTS

Heparin serves as a natural stimulant of the inflammasome and exacerbates the symptoms of tumor necrosis factor receptor-associated periodic syndrome (TRAPS)

(2011) Shun Ohmori et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

Mitochondrial reactive oxygen species promote production of proinflammatory cytokines and are elevated in TNFR1-associated periodic syndrome (TRAPS)

(2011) Ariel C. Bulua et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

(2011) Adrian A. Lobito et al.   TRENDS IN MOLECULAR MEDICINE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Concerted action of wild-type and mutant TNF receptors enhances inflammation in TNF receptor 1-associated periodic fever syndrome

(2010) A. Simon et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Novel markers of inflammation identified in tumor necrosis factor receptor-associated periodic syndrome (TRAPS) by transcriptomic analysis of effects of TRAPS-associated tumor necrosis factor receptor type I mutations in an endothelial cell line

(2009) Susana L. Rebelo et al.   ARTHRITIS AND RHEUMATISM

Proinflammatory action of the antiinflammatory drug infliximab in tumor necrosis factor receptor-associated periodic syndrome

(2009) Belinda Nedjai et al.   ARTHRITIS AND RHEUMATISM

The infevers autoinflammatory mutation online registry: update with new genes and functions

(2008) Florian Milhavet et al.   HUMAN MUTATION