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Journal articles on the topic 'Cold-induced autoinflammatory syndrome 1 protein'

Author: Grafiati

Published: 5 June 2025

Last updated: 2 August 2025

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1

Fujisawa, Akihiro, Naotomo Kambe, Megumu Saito, et al. "Disease-associated mutations in CIAS1 induce cathepsin B–dependent rapid cell death of human THP-1 monocytic cells." Blood 109, no. 7 (2006): 2903–11. http://dx.doi.org/10.1182/blood-2006-07-033597.

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Abstract Mutations in the cold-induced autoinflammatory syndrome 1 (CIAS1) gene are associated with a spectrum of autoinflammatory diseases, including familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and chronic infantile neurologic, cutaneous, articular syndrome, also known as neonatal-onset multisystem inflammatory disease. CIAS1 encodes cryopyrin, a protein that localizes to the cytosol and functions as pattern recognition receptor. Cryopyrin also participates in nuclear factor-κB regulation and caspase-1–mediated maturation of interleukin 1β. In this study, we showed that di

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2

Raghawan, Akhouri Kishore, Rajashree Ramaswamy, Vegesna Radha, and Ghanshyam Swarup. "HSC70 regulates cold-induced caspase-1 hyperactivation by an autoinflammation-causing mutant of cytoplasmic immune receptor NLRC4." Proceedings of the National Academy of Sciences 116, no. 43 (2019): 21694–703. http://dx.doi.org/10.1073/pnas.1905261116.

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NLRC4 [nucleotide-binding domain and leucine-rich repeat (NLR) family, caspase recruitment domain (CARD) containing 4] is an innate immune receptor, which, upon detection of certain pathogens or internal distress signals, initiates caspase-1–mediated interleukin-1β maturation and an inflammatory response. A gain-of-function mutation, H443P in NLRC4, causes familial cold autoinflammatory syndrome (FCAS) characterized by cold-induced hyperactivation of caspase-1, enhanced interleukin-1β maturation, and inflammation. Although the H443P mutant shows constitutive activity, the mechanism involved in

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Ross, J. Barrie, Laura A. Finlayson, P. Jennifer Klotz, et al. "Use of Anakinra (Kineret) in the Treatment of Familial Cold Autoinflammatory Syndrome with a 16-Month Follow-Up." Journal of Cutaneous Medicine and Surgery 12, no. 1 (2008): 8–16. http://dx.doi.org/10.2310/7750.2008.07050.

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Background: The susceptibility gene for familial cold autoinflammatory syndrome (FCAS) has been mapped to chromosome 1q44 and a point mutation determined to be present in all affected members of a large Canadian kindred. Anakinra (Kineret) is known to block IL-1 receptor and in the few patients with FCAS in whom it has been used, it has been shown to provide relief for this lifelong disability. Objective: To demonstrate the efficacy and safety of anakinra (Kineret) in FCAS. Methods: Eight affected family members aged 29 to 77 years received anakinra 100 mg subcutaneously daily for 4 weeks prec

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Cudrici, Cornelia, Natalie Deuitch, and Ivona Aksentijevich. "Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives." International Journal of Molecular Sciences 21, no. 9 (2020): 3263. http://dx.doi.org/10.3390/ijms21093263.

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Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominant autoinflammatory syndrome characterized by prolonged and recurrent episodes of fever, abdominal and/or chest pain, arthralgia, myalgia, and erythematous rash. TRAPS is associated with heterozygous variants in the TNFRSF1A gene, which encodes the TNFR1 (tumor necrosis factor receptor 1) receptor. Disease-causing variants are found exclusively in the extracellular domain of TNFR1 and affect receptor structure and binding to the TNF ligand. The precise mechanism of the disease is still unclear, but it is

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Salugina, S., E. Fedorov, K. Elena, E. Zakharova, and S. Palshina. "SAT0539 MUCKLE-WELLS SYNDROME IN RHEUMATOLOGY PRACTICE, FAMILY CASES: FEDERAL CENTER EXPERIENCE." Annals of the Rheumatic Diseases 79, Suppl 1 (2020): 1227.1–1227. http://dx.doi.org/10.1136/annrheumdis-2020-eular.2167.

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Background:Muckle-Wells syndrome (MWS) is a monogenic autoinflammatory disease caused by a NLRP3 gene mutation. It is the most common variant of cryopyrin-associated periodic syndromes (CAPSs) and can be observed in rheumatology practice. It manifests itself in fever, urticaria-like rash, arthralgias/arthritides, conjunctivitis/uveitis, sensorineural hearing loss, acute-phase markers (ESR, CRP). The disease’s onset usually takes place in infancy. There are examples of family cases. Targeted therapy: interleukin-1 inhibitors (anakinra, canakinumab).Objectives:to provide characteristics of MWS p

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Lobito, Adrian A., Fiona C. Kimberley, Jagan R. Muppidi, et al. "Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TNFR1-associated periodic fever syndrome (TRAPS)." Blood 108, no. 4 (2006): 1320–27. http://dx.doi.org/10.1182/blood-2005-11-006783.

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AbstractTumor necrosis factor (TNF) receptor–associated periodic syndrome (TRAPS) is an autosomal dominant systemic autoinflammatory disease associated with heterozygous mutations in TNF receptor 1 (TNFR1). Here we examined the structural and functional alterations caused by 9 distinct TRAPS-associated TNFR1 mutations in transfected cells and a mouse “knock-in” model of TRAPS. We found that these TNFR1 mutants did not generate soluble versions of the receptor, either through membrane cleavage or in exosomes. Mutant receptors did not bind TNF and failed to function as dominant-negative inhibito

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Tanaka, Takayuki, Akira Ohta, Masakatsu Yanagimachi, et al. "Disease Modeling and Drug Discovery Using Induced Pluripotent Stem Cells From CINCA Syndrome Patients." Blood 120, no. 21 (2012): 4680. http://dx.doi.org/10.1182/blood.v120.21.4680.4680.

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Abstract Abstract 4680 Chronic infantile neurologic cutaneous and articular syndrome (CINCA syndrome; MIM #607715) is a dominantly inherited autoinflammatory disease characterized by systemic inflammation with an urticaria-like rash, neurological manifestations, and arthropathy. NLRP3 mutation is the first and so far the only identified mutation that is responsible for CINCA syndrome. NLRP3 is expressed mainly in myelomonocytic lineage cells and chondrocytes, and acts as an intracellular sensor of danger signals from various cellular insults. In normal macrophages, a first stimulus, such as li

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8

Kuemmerle-Deschner, J. B., B. Kortus-Goetze, P. Oommen, et al. "POS0220 LONG-TERM SAFETY AND EFFECTIVENESS OF CANAKINUMAB IN CRYOPYRIN-ASSOCIATED PERIODIC SYNDROMES – 36-MONTH DATA FROM THE RELIANCE REGISTRY." Annals of the Rheumatic Diseases 81, Suppl 1 (2022): 346–47. http://dx.doi.org/10.1136/annrheumdis-2022-eular.4753.

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BackgroundThe cryopyrin-associated periodic fever syndromes (CAPS) are hereditary monogenic autoinflammatory diseases with severe systemic and organ inflammation due to increased production of Interleukin-1β (IL-1β). The subcutaneously administered monoclonal antibody canakinumab (CAN) effectively inhibits IL-1β and results in rapid remission of CAPS symptoms in clinical trials as well as in real-life.ObjectivesThe RELIANCE registry is designed to explore long-term safety and effectiveness of CAN under routine clinical practice conditions in pediatric (≥2 years) and adult patients with CAPS, i

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Mian, Syed A., Austin G. Kulasekararaj, Aytug Kizilors, et al. "NLRP3 Inflammosome Polymorphisms Are Enriched in Myelodysplastic Syndrome Patients with Autoimmune Disorders." Blood 126, no. 23 (2015): 1659. http://dx.doi.org/10.1182/blood.v126.23.1659.1659.

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Abstract Autoimmune disorders (AIDs) are commonly observed in up to 30% of myelodysplastic syndromes (MDS) patients. Clinical manifestations such as acute neutrophilic febrile dermatosis, rheumatoid arthritis, inflammatory bowel disease, pulmonary infiltrates and peripheral polyneuropathy, precede or accompany the diagnosis of MDS. In fact, large-scale epidemiologic studies have suggested that patients with AIDs have an elevated risk of developing MDS. To gain more insight into the association of MDS and AIDs, bone marrow mononuclear cells available from 202 patients were sequenced for 'inflam

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Schinold, Michael, and Sarah Oberholtzer. "A Case of Familial Cold Autoinflammatory Syndrome Type 2." Journal of Rheumatology 52, Suppl 2 (2025): 84.2–84. https://doi.org/10.3899/jrheum.2025-0314.83.

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BackgroundSystemic rheumatic diseases exist along a spectrum of autoimmune and autoinflammatory disorders. Autoinflammatory diseases (AID) result from errors of the innate immune system, which results in systemic inflammation. This differs from autoimmune syndromes which result from errors of the adaptive immune system when self-tolerance is broken and autoantibodies are generated.CaseMrs. X, a 46yo F, was referred for further evaluation and treatment of a possible cold autoinflammatory syndrome. She has a history of cold-induced episodes starting in her late childhood, which have worsened in

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Magaziner, Samuel J., Jason C. Collins, Brecca Miller, Kelly V. Ruggles, Achim Werner, and David B. Beck. "The Mechanism of Cell Autonomous Inflammation in VEXAS Syndrome Is Mediated By Proteotoxic Stress." Blood 144, Supplement 1 (2024): 187. https://doi.org/10.1182/blood-2024-202567.

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VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a severe, multi-system disease caused by mutations in the UBA1 gene acquired in hematopoietic stem cells (HSCs) affecting 1/4000 men over the age of 50 (Beck DB, NEJM 2020; Beck DB, JAMA 2023). UBA1 is the E1 enzyme responsible for initiating the majority of ubiquitylation and has two isoforms: a nuclear isoform, UBA1a, and a cytoplasmic isoform, UBA1b. UBA1 mutations in VEXAS occur predominantly at the Met41 hotspot, lead to loss of the cytoplasmic isoform UBA1b, and are restricted to the myeloid lineage. We have pre

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12

Kuemmerle-Deschner, J. B., B. Kortus-Goetze, P. Oommen, et al. "OP0092 LONG-TERM SAFETY AND EFFECTIVENESS OF CANAKINUMAB IN CRYOPYRIN-ASSOCIATED PERIODIC SYNDROMES (CAPS) – 30-MONTH DATA FROM THE RELIANCE REGISTRY." Annals of the Rheumatic Diseases 80, Suppl 1 (2021): 50.2–51. http://dx.doi.org/10.1136/annrheumdis-2021-eular.3716.

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Background:In clinical trials as well as in real-life, the IL-1ß inhibitor canakinumab leads to rapid remission of symptoms in the treatment of CAPS, a monogenic autoinflammatory disease with severe systemic and organ inflammation.Objectives:The RELIANCE registry is designed to explore long-term safety and effectiveness of canakinumab under routine clinical practice conditions in pediatric (≥2 years) and adult patients with CAPS, including Muckle-Wells syndrome (MWS), familial cold autoinflammatory syndrome (FCAS), and neonatal onset multisystem inflammatory disease (NOMID)/chronic infantile n

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Kuemmerle-Deschner, J. B., B. Kortus-Goetze, C. Schuetz, et al. "OP0252 LONG-TERM SAFETY AND EFFECTIVENESS OF CANAKINUMAB IN CRYOPYRIN-ASSOCIATED PERIODIC SYNDROMES (CAPS) – 4-YEARS DATA FROM THE RELIANCE REGISTRY." Annals of the Rheumatic Diseases 82, Suppl 1 (2023): 167.2–167. http://dx.doi.org/10.1136/annrheumdis-2023-eular.6040.

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BackgroundCAPS (Cryopyrin-associated periodic fever syndromes) are monogenic autoinflammatory diseases causing great burden to patients due to severe systemic and organ inflammation caused by increased production of interleukin-1β (IL-1β). In clinical trials as well as in real-life, the monoclonal antibody canakinumab (CAN) effectively inhibits IL-1β and results in rapid suppression of CAPS symptoms.ObjectivesThe RELIANCE registry explores long-term safety and effectiveness of CAN under routine clinical practice conditions in pediatric (≥2 years) and adult patients with CAPS, including Muckle-

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14

Nadaj, Joanna, Bartosz Czyżewski, Anna Mariankowska, et al. "Cryopyrin-Associated Periodic Syndromes (CAPS): Pathogenesis, Clinical Manifestations, and IL-1-Targeted Therapeutic Strategies." Journal of Education, Health and Sport 83 (July 14, 2025): 61828. https://doi.org/10.12775/jehs.2025.83.61828.

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Cryopyrin-associated periodic syndromes (CAPS) are a group of rare, genetically determined autoinflammatory diseases resulting from gain-of-function mutations in the NLRP3 gene. These mutations lead to constitutive activation of the inflammasome and overproduction of interleukin-1β and interleukin-18, driving chronic systemic inflammation. CAPS encompasses three distinct clinical phenotypes—familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and chronic infantile neurologic cutaneous and articular syndrome (CINCA/NOMID)—which vary in severity and organ involvement. FCA

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15

Saito, Megumu, Ryuta Nishikomori, Naotomo Kambe, et al. "Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients." Blood 111, no. 4 (2008): 2132–41. http://dx.doi.org/10.1182/blood-2007-06-094201.

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Cryopyrin-associated periodic syndrome (CAPS) is a spectrum of systemic autoinflammatory disorders in which the majority of patients have mutations in the cold-induced autoinflammatory syndrome (CIAS)1 gene. Despite having indistinguishable clinical features, some patients lack CIAS1 mutations by conventional nucleotide sequencing. We recently reported a CAPS patient with mosaicism of mutant CIAS1, and raised the possibility that CIAS1 mutations were overlooked in “mutation-negative” patients, due to a low frequency of mosaicism. To determine whether there were latent mutant cells in “mutation

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Çağlayan, Ş., K. Ulu, T. Coşkuner, et al. "AB1264 CLINICAL, DEMOGRAPHIC CHARACTERISTICS AND TREATMENT RESPONSES OF PATIENTS WITH CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME." Annals of the Rheumatic Diseases 81, Suppl 1 (2022): 1741.1–1741. http://dx.doi.org/10.1136/annrheumdis-2022-eular.5013.

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BackgroundCryopyrin-associated periodic syndrome (CAPS) is a rare autoinflammatory disease that inherited autosomal dominantly. The disease occurs as a result of mutations in the NLRP3 gene, which encodes cryopyrin (1). It has three clinical presentations called familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and neonatal-onset multisystem inflammatory disorder (NOMID) or chronic infantile neurologic, cutaneous and articular (CINCA) syndrome (2). FCAS is the mildest form of this spectrum, characterized by cold-induced fever, urticarial rash, joint complaints, conjun

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Chen, Jintong, Yanni Huang, Huaning Chen, et al. "Identification of a Novel NLRP12 Frameshift Mutation (Val730Glyfs∗41) by Whole-Exome Sequencing in Patients with Crohn’s Disease." Human Mutation 2024 (February 23, 2024): 1–11. http://dx.doi.org/10.1155/2024/5573272.

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NLRP12 encodes the nucleotide-binding leucine-rich repeat-containing receptor 12 protein and has been linked to familial cold autoinflammatory syndrome 2 (FCAS2). Previous studies have reported that NLRP12 protein can dampen inflammatory responses in DSS-induced mice colitis. To date, only four alterations in the NLRP12 gene have been associated with Crohn’s disease (CD). Here, we reported a novel heterozygous NLRP12 frameshift mutation (c.2188dupG, p.Val730Glyfs∗41) identified by whole-exome sequencing in the proband with CD. The Sanger sequencing confirmed that his sister and father also car

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Omi, Toshinori, Yoshiro Koda, Mikiko Soejima, Lhagvasuren Munkhtulga, and Sadahiko Iwamoto. "Distribution of 42-bp variable tandem repeat polymorphism of the cold-induced autoinflammatory syndrome 1 (CIAS1) gene in eight human populations." Legal Medicine 13, no. 1 (2011): 44–46. http://dx.doi.org/10.1016/j.legalmed.2010.09.004.

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Lamkanfi, Mohamed, James L. Mueller, Alberto C. Vitari, et al. "Glyburide inhibits the Cryopyrin/Nalp3 inflammasome." Journal of Cell Biology 187, no. 1 (2009): 61–70. http://dx.doi.org/10.1083/jcb.200903124.

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Inflammasomes activate caspase-1 for processing and secretion of the cytokines interleukin-1β (IL-1β) and IL-18. Cryopyrin/NALP3/NLRP3 is an essential component of inflammasomes triggered by microbial ligands, danger-associated molecular patterns (DAMPs), and crystals. Inappropriate Cryopyrin activity has been incriminated in the pathogenesis of gouty arthritis, Alzheimer's, and silicosis. Therefore, inhibitors of the Nalp3 inflammasome offer considerable therapeutic promise. In this study, we show that the type 2 diabetes drug glyburide prevented activation of the Cryopyrin inflammasome. Glyb

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Omi, Toshinori, Maki Kumada, Toyomi Kamesaki, et al. "An intronic variable number of tandem repeat polymorphisms of the cold-induced autoinflammatory syndrome 1 (CIAS1) gene modifies gene expression and is associated with essential hypertension." European Journal of Human Genetics 14, no. 12 (2006): 1295–305. http://dx.doi.org/10.1038/sj.ejhg.5201698.

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Yeloyeva, Z.V., L.P. Kiselyova, T.O. Filonova, et al. "Autoimmune rheumatic diseases and autoinflammatory syndromes, facets of contact." Annals of Mechnikov Institute, no. 4 (December 21, 2020): 21–30. https://doi.org/10.5281/zenodo.4382141.

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The peculiarity of the development of inflammation, its acute and chronic course, various combinations of inflammatory mediators, the nature and severity of the immune response is largely arise from the genetic characteristics of the organism. It would be logical to assume the key role of small mutations of genes in initiating the development of autoaggression, activation of signaling molecules, immunocompetent cells with violation of their cooperation, production of pro-inflammatory cytokines, as a consequence of the effect of persistent viral-bacterial infection and non-infectious agents. In

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Festuccia, William T. "Turning up the heat against metabolic syndrome and non-alcoholic fatty liver disease." Clinical Science 131, no. 4 (2017): 327–28. http://dx.doi.org/10.1042/cs20160855.

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Brown adipose tissue (BAT), an organ specialized in the conversion of chemical energy from nutrients into heat through a process denominated as nonshivering thermogenesis, plays an important role in defence of body weight and homoeothermy in mammals. BAT nonshivering thermogenesis relies on the activity of the uncoupling protein 1 (UCP-1), a mitochondrial protein that, on demand, deviates proton gradient from ATP synthesis to heat generation. Energetically, this process is supported by BAT-elevated mitochondrial density and outstanding capacity to oxidize fatty acids and glucose. These unique

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Kong, Fanzhi, Xinyue Zhang, Qi Xiao, Huilin Jia, and Tengfei Jiang. "Heat Shock Protein 70 in Cold-Stressed Farm Animals: Implications for Viral Disease Seasonality." Microorganisms 13, no. 8 (2025): 1755. https://doi.org/10.3390/microorganisms13081755.

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The seasonal patterns of viral diseases in farm animals present significant challenges to global livestock productivity, with cold stress emerging as a potential modulator of host–pathogen interactions. This review synthesizes current knowledge on the expression dynamics of heat shock protein 70 (HSP70) in farm animals under cold-stress conditions and its potential roles as (1) a viral replication facilitator and (2) an immune response regulator. This review highlights cold-induced HSP70 overexpression in essential organs, as well as its effects on significant virus life cycles, such as porcin

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Rodiño-Janeiro, Bruno K., Marc Pigrau, Eloísa Salvo-Romero, et al. "Acute Stress Regulates Sex-Related Molecular Responses in the Human Jejunal Mucosa: Implications for Irritable Bowel Syndrome." Cells 12, no. 3 (2023): 423. http://dx.doi.org/10.3390/cells12030423.

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Irritable bowel syndrome (IBS) is a prevalent gastrointestinal disorder linked to intestinal barrier dysfunction and life stress. We have previously reported that female sex per se determines an increased susceptibility to intestinal barrier dysfunction after cold pain stress (CPS). We aimed to identify sex-related molecular differences in response to CPS in healthy subjects to understand the origin of sex bias predominance in IBS. In 13 healthy males and 21 females, two consecutive jejunal biopsies were obtained using Watson’s capsule, at baseline, and ninety minutes after CPS. Total mucosal

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Flatt, Joanna F., Hélène Guizouarn, Nicholas M. Burton, et al. "Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome." Blood 118, no. 19 (2011): 5267–77. http://dx.doi.org/10.1182/blood-2010-12-326645.

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Abstract The hereditary stomatocytoses are a series of dominantly inherited hemolytic anemias in which the permeability of the erythrocyte membrane to monovalent cations is pathologically increased. The causative mutations for some forms of hereditary stomatocytosis have been found in the transporter protein genes, RHAG and SLC4A1. Glucose transporter 1 (glut1) deficiency syndromes (glut1DSs) result from mutations in SLC2A1, encoding glut1. Glut1 is the main glucose transporter in the mammalian blood-brain barrier, and glut1DSs are manifested by an array of neurologic symptoms. We have previou

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Feng, Cong, Aihong Li, Chenhui Yin, et al. "Realgar Alleviated Neuroinflammation Induced by High Protein and High Calorie Diet in Rats via the Microbiota-Gut-Brain Axis." Nutrients 14, no. 19 (2022): 3958. http://dx.doi.org/10.3390/nu14193958.

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Purpose: Gastrointestinal heat retention syndrome (GHRS) often occurs in adolescents, resulting into nervous system injury. Realgar, an arsenic mineral with neuroprotective effect, has been widely used to treat GHRS. However, its mechanism of action remains unknown. Methods: A GHRS rat model was established using a high protein and high calorie diet. We performed macroscopic characterization by assessing bowel sounds, hot/cold preference, anal temperature, and fecal features. Atomic fluorescence spectroscopy was employed to evaluate brain arsenic level while hippocampal ultrastructural changes

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Filippone, Alessia, Alessio Ardizzone, Valentina Bova, et al. "A Combination of Xyloglucan, Pea Protein and Chia Seed Ameliorates Intestinal Barrier Integrity and Mucosa Functionality in a Rat Model of Constipation-Predominant Irritable Bowel Syndrome." Journal of Clinical Medicine 11, no. 23 (2022): 7073. http://dx.doi.org/10.3390/jcm11237073.

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Irritable Bowel Syndrome is a gastrointestinal disorder that affects the large intestine, which encompasses several symptoms including, but not limited to, abdominal pain, bloating and dysmotility. In particular, IBS associated with constipation (IBS-C) is characterized by hard and dry stools and inadequate evacuation and difficulty in defecation. Although several drugs ameliorate intestinal modifications and constipation-associated features, management of IBS is still a challenge. Natural compounds including Xyloglucan and pea protein (XP) and Chia seed powder (CS) are widely known to possess

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Lee, Yuna, Yeo Jin Park, Bonggi Lee, et al. "Ribes fasciculatum Ameliorates High-Fat-Diet-Induced Obesity by Elevating Peripheral Thermogenic Signaling." Molecules 27, no. 5 (2022): 1649. http://dx.doi.org/10.3390/molecules27051649.

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Ribes fasciculatum has been consumed as a food and as a traditional medicine for treating autoimmune diseases and aging in diverse countries. A previous study showed that a mixture of Ribes fasciculatum and Cornus officinalis prohibited adipocyte differentiation and lipid accumulation in preadipocytes and suppressed diet-induced obesity. Nevertheless, the mechanism of R. fasciculatum to regulate energy homeostasis solely through thermogenic signaling remains unclear. Thus, we investigated its effects on energy homeostasis using R. fasciculatum fed to C57BL/6 mice with a 45% high-fat diet. Chro

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Heng, Ling Zhi, Joanna Kennedy, Sarah Smithson, Ruth Newbury-Ecob, and Amanda Churchill. "New macular findings in individuals with biallelic KLHL7 gene mutation." BMJ Open Ophthalmology 4, no. 1 (2019): e000234. http://dx.doi.org/10.1136/bmjophth-2018-000234.

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ObjectiveThe ubiquitin-proteasome system pathway has been recognised as a crucial cellular mechanism for the proper function of photoreceptor cells. In particular, ubiquitin ligases (E3s) recognise and ubiquitinate specific proteins for degradation. The KLHL7 protein (a BTB-Kelch protein) has been found to play an important role in this process. There have been several reports that heterozygous mutations in the KLHL7 gene in adults are responsible for a rare cause of late-onset autosomal dominant retinitis pigmentosa with preservation of central vision and homozygous mutations in two young chi

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Cacciottolo, Mafalda, Yujia Li, Justin B. Nice, et al. "Nanograms of SARS-CoV-2 spike protein delivered by exosomes induce potent neutralization of both delta and omicron variants." PLOS ONE 18, no. 8 (2023): e0290046. http://dx.doi.org/10.1371/journal.pone.0290046.

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Exosomes are emerging as potent and safe delivery carriers for use in vaccinology and therapeutics. A better vaccine for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is needed to provide improved, broader, longer lasting neutralization of SARS-CoV-2, a more robust T cell response, enable widespread global usage, and further enhance the safety profile of vaccines given the likelihood of repeated booster vaccinations. Here, we use Capricor’s StealthXTM platform to engineer exosomes to express native SARS-CoV-2 spike Delta variant (STX-S) protein on the surface for the delivery of

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Mao, Mei, Wen Fan, Yan Zheng, Pan Qi, Min Xi, and Yuanrong Yao. "Upregulation of N-Type Voltage-Gated Calcium Channels Induces Neuropathic Pain in Experimental Autoimmune Neuritis." Evidence-Based Complementary and Alternative Medicine 2022 (June 15, 2022): 1–7. http://dx.doi.org/10.1155/2022/8547095.

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Objective. Guillain–Barré syndrome (GBS) is a common autoimmune disease of the peripheral nervous system, and there is still no effective treatment for GBS. This investigation intends to figure out the effect and mechanism of N-type voltage-gated calcium (Cav2.2) channels on neuropathic pain in GBS. Methods. An experimental autoimmune neuritis (EAN) model was established in Lewis rats induced by myelin P253-78 peptide and complete Freund’s adjuvant. Luxol fast blue (LFB) staining was used for observing the degree of cell infiltration and demyelination in the sciatic nerve of rats, ELISA for de

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Hu, Liang, Ya Feng, Wuchao Liu, Lingjing Jin, and Zhiyu Nie. "Botulinum toxin type A suppresses arterial vasoconstriction by regulating calcium sensitization and the endothelium-dependent endothelial nitric oxide synthase/soluble guanylyl cyclase/cyclic guanosine monophosphate pathway: An in vitro study." Experimental Biology and Medicine 244, no. 16 (2019): 1475–84. http://dx.doi.org/10.1177/1535370219878143.

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Botulinum toxin type A (BTX-A) is a potent neurotoxin that causes relaxation of striated muscle by inhibiting the release of acetylcholine at the neuromuscular junction. Some studies have suggested that BTX-A treatment for Raynaud syndrome is safe and effective with few adverse reactions. However, the underlying mechanism remains unclear. In the present study, we used both arterial rings isolated from rabbits and human microvascular endothelial cells (HMEC-1) to evaluate the mechanism underlying the effects of BTX-A on arterial vasoconstriction induced by 5-hydroxytryptamine. The roles of calc

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Wu, Meifang, Suman Kundu, and Keith R. McCrae. "NADPH Oxidase Activation and Endothelial Nitric Oxide Synthase Uncoupling Contribute to Endothelial Dysfunction in Antiphospholipid Syndrome." Blood 126, no. 23 (2015): 4639. http://dx.doi.org/10.1182/blood.v126.23.4639.4639.

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Abstract Introduction: Antiphospholipid syndrome (APS) is characterized by thrombosis and/or recurrent fetal loss in the presence of persistently elevated antiphospholipid antibodies (APLA). The majority of pathologic APLA are directed against β2-glycoprotein I (β2GPI). APLA cause endothelial dysfunction, though the underlying mechanisms have not been clearly delineated. Methods: Endothelial cells (EC) were incubated with β2GPI and either control antibodies or anti-β2GPI antibodies affinity-purified from sera of patients with APS, in the absence or presence of diapocynin, an NADPH oxidase (NOX

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Alluri, Ravi Kumar, Meifang Wu, Suman Kundu, and Keith R. McCrae. "Anti-ß2GPI Antibodies Induce Oxidative and Nitrative Stress in Endothelial Cells through Activation of Discrete Nox Isoforms and eNOS Uncoupling." Blood 128, no. 22 (2016): 720. http://dx.doi.org/10.1182/blood.v128.22.720.720.

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Abstract Introduction Antiphospholipid syndrome (APS) is characterized by thrombosis and recurrent fetal loss in patients with circulating antiphospholipid antibodies (APLAs). These antibodies react with β2 glycoprotein I (β2 GPI) on cell surfaces leading to cellular activation and dysfunction. Previous studies have shown that oxidative stress is associated with the pathophysiology of APS and that NADPH oxidase (NOX)-derived ROS act as intermediates in signaling pathways leading to cellular activation. However, detailed mechanisms and isoforms of NOX involved in ROS generation in response to a

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Ponglong, Jiraprapa, Laddawan Senggunprai, Panot Tungsutjarit, Ronnachai Changsri, Tunvaraporn Proongkhong, and Patchareewan Pannangpetch. "ETHANOLIC EXTRACT OF TUBTIM-CHUMPHAE RICE BRAN DECREASES INSULIN RESISTANCE AND INTRAHEPATIC FAT ACCUMULATION IN HIGH-FAT-HIGH-FRUCTOSE DIET FED RATS." Asian Journal of Pharmaceutical and Clinical Research 12, no. 1 (2019): 506. http://dx.doi.org/10.22159/ajpcr.2018.v12i1.30545.

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Objective: Tubtim-chumphae rice is hybrid Thai rice with a red pericarp. This study was aimed to investigate the effect of Tubtim-chumphae rice bran on insulin resistance and intrahepatic fat accumulation in high-fat-high-fructose diet (HFFD) fed rats.Methods: Ethanolic extract of rice bran (ERB) was prepared using a 50% ethanol-water. Male Sprague-Dawley rats were fed HFFD (40% lard, 20% fructose) for 10 weeks, followed by concomitant administrations of distilled water or ERB at 250 or 500 mg/kg/day or pioglitazone at 10 mg/kg/day for a further 4 weeks in treated groups. Normal control rats w

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Ponglong, Jiraprapa, Laddawan Senggunprai, Panot Tungsutjarit, Ronnachai Changsri, Tunvaraporn Proongkhong, and Patchareewan Pannangpetch. "ETHANOLIC EXTRACT OF TUBTIM-CHUMPHAE RICE BRAN DECREASES INSULIN RESISTANCE AND INTRAHEPATIC FAT ACCUMULATION IN HIGH-FAT-HIGH-FRUCTOSE DIET FED RATS." Asian Journal of Pharmaceutical and Clinical Research 12, no. 1 (2019): 506. http://dx.doi.org/10.22159/ajpcr.2019.v12i1.30545.

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Objective: Tubtim-chumphae rice is hybrid Thai rice with a red pericarp. This study was aimed to investigate the effect of Tubtim-chumphae rice bran on insulin resistance and intrahepatic fat accumulation in high-fat-high-fructose diet (HFFD) fed rats.Methods: Ethanolic extract of rice bran (ERB) was prepared using a 50% ethanol-water. Male Sprague-Dawley rats were fed HFFD (40% lard, 20% fructose) for 10 weeks, followed by concomitant administrations of distilled water or ERB at 250 or 500 mg/kg/day or pioglitazone at 10 mg/kg/day for a further 4 weeks in treated groups. Normal control rats w

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Barreyro, Laura, Avery Sampson, Kathleen Hueneman, et al. "Therapeutic Targeting of the Ubiquitin Conjugating Enzyme UBE2N in Myeloid Malignancies." Blood 132, Supplement 1 (2018): 4050. http://dx.doi.org/10.1182/blood-2018-99-115359.

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Abstract Inflammatory and innate immune signaling pathways are activated in leukemic stem and progenitor cells and contribute to the pathogenesis of hematologic malignancies, such as myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML). UBE2N is a ubiquitin (Ub) conjugating enzyme that catalyzes lysine 63 (K63)-linked Ub chains on substrates that are critical for signal transduction of broad innate immune signaling pathways. Here we report that UBE2N is required for leukemic cell function by mediating oncogenic innate immune signaling, and identified a novel chemical class of small

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Rowell, Jasmine, Gregorz Pietka, Maria Virgilio, Oscar Pena, Catherine Hockings, and Elspeth Payne. "A Zebrafish Model of Diamond-Blackfan Anemia Results in Bone Marrow Failure and Demonstrates Defective Translation in Erythroid Cells By Ribosome Footprinting." Blood 130, Suppl_1 (2017): 871. http://dx.doi.org/10.1182/blood.v130.suppl_1.871.871.

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Abstract Diamond-Blackfan anemia (DBA) is a congenital bonemarrow failure syndrome that manifests as a profoundmacrocytic anemia, which classically presents within the first year of life. Heterozygous mutations or allelic loss of one of 12 ribosomal proteins (RP) leads to apoptosis of erythroid precursors and have been identified in over 50% of DBA patients, most commonly RPS19 that accounts for 25% of all cases. To study the role of Rps19 in erythroid development, we employed genome-editing tools to generate stable knockout line of Rps19 in zebrafish using TALENs targeting exon 1 of Rps19. We

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Omeed, M. Memar MD PhD, Caughlin MD Benjamin, and Djalilian MD Hamid. "Low Level Laser Treatment for Patterned Hair Loss: A Systematic Review." Archives of Dermatology and Skin Care 1, no. 2 (2018): 20–24. https://doi.org/10.5281/zenodo.2250507.

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  <strong>LOW LEVEL LASER TREATMENT FOR PATTERNED HAIR</strong><strong> LOSS: A    SYSTEMATIC REVIEW</strong>   Omeed Memar<sup>1*</sup>, Benjamin Caughlin<sup>2</sup>, Hamid Djalilian<sup>3</sup> 1 Academic Dermatology & Skin Cancer Institute, Chicago, Illinois 2 Department of Surgery / Division of Otolaryngology, John H. Stroger, Jr. Hospital of Cook County, Chicago, Illinois. Division of Facial Plastic and Reconstructive Surgery, Jesse Brown VAMC, Chicago, Illinois. Division of Facial Plastic and Reconstructive Surgery, University of Illinois Health Hospital Sys

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Ali, Inaam N., Muthana M. Awad, and Alaa S. Mahmood. "Effect of Methotrexate and Omega-3 Combination on Cytogenetic Changes of Bone Marrow and Some Enzymatic Antioxidants: An Experimental Study." Yemeni Journal for Medical Sciences 11, no. 1 (2017): 1–7. http://dx.doi.org/10.20428/yjms.11.1.1.

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  Introduction Methods Resuts Discussion Conclusions Acknowledgments Authors' contributions Competing interests Ethical approval References     Effect of Methotrexate and Omega-3 Combination on Cytogenetic Changes of Bone Marrow and Some Enzymatic Antioxidants: An Experimental Study Inaam N. Ali1, Muthana M. Awad2, Alaa S. Mahmood2,* 1 Water and Environment Directorate, Ministry of Sciences and Technology, Baghdad, Iraq 2 Department of Biology, College of Science, University of Anbar, Anbar, Iraq * Corresponding author: A. S. Mahmood

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Ali, Inaam N., Muthana M. Awad, and Alaa S. Mahmood. "Effect of Methotrexate and Omega-3 Combination on Cytogenetic Changes of Bone Marrow and Some Enzymatic Antioxidants: An Experimental Study." Yemeni Journal for Medical Sciences 11, no. 1 (2017): 1–7. http://dx.doi.org/10.20428/yjms.v11i1.1059.

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  Introduction Methods Resuts Discussion Conclusions Acknowledgments Authors' contributions Competing interests Ethical approval References     Effect of Methotrexate and Omega-3 Combination on Cytogenetic Changes of Bone Marrow and Some Enzymatic Antioxidants: An Experimental Study Inaam N. Ali1, Muthana M. Awad2, Alaa S. Mahmood2,* 1 Water and Environment Directorate, Ministry of Sciences and Technology, Baghdad, Iraq 2 Department of Biology, College of Science, University of Anbar, Anbar, Iraq * Corresponding author: A. S. Mahmood

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Scheffel, Jörg, Niklas A. Mahnke, Zonne L. M. Hofman, et al. "Cold-induced urticarial autoinflammatory syndrome related to factor XII activation." Nature Communications 11, no. 1 (2020). http://dx.doi.org/10.1038/s41467-019-13984-8.

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AbstractHereditary autoinflammatory diseases are caused by gene mutations of the innate immune pathway, e.g. nucleotide receptor protein 3 (NLRP3). Here, we report a four-generation family with cold-induced urticarial rash, arthralgia, chills, headache and malaise associated with an autosomal-dominant inheritance. Genetic studies identify a substitution mutation in gene F12 (T859A, resulting in p.W268R) which encodes coagulation factor XII (FXII). Functional analysis reveals enhanced autocatalytic cleavage of the mutated protein and spontaneous FXII activation in patient plasma and in supernat

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Silva, Rafael Cardoso Maciel Costa. "Heat shock protein 90, death-associated protein kinase 1 and other cold-induced proteins: Who’s to blame for cold-induced inflammasome activation in familial cold autoinflammatory syndromes?" Medical Hypotheses, September 2023, 111172. http://dx.doi.org/10.1016/j.mehy.2023.111172.

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Ando, Taiki, Yoshiyuki Abe, Ken Yamaji, Ryuta Nishikomori, and Naoto Tamura. "A case of cryopyrin-associated periodic syndrome due to somatic mosaic mutation complicated with recurrent circinate erythematous psoriasis." Modern Rheumatology Case Reports, November 30, 2023. http://dx.doi.org/10.1093/mrcr/rxad067.

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Abstract Cryopyrin-associated periotic syndrome (CAPS) is a rare autoinflammatory disease (AID) caused by genetic variants in innate immunity genes. AIDs, including CAPS, mediate proinflammatory cytokines such as interleukin (IL)-1 and IL-18 and result in severe systemic inflammation. A gain-of-function mutation in the NLRP3 gene, which encodes the protein cryopyrin, was identified to be responsible for CAPS in 2001, and since then several additional pathogenic mutations have been found. Moreover, other phenotypes have been identified based on severity and symptomatology, including familial co

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Souali, M., F. Semlali, G. Benbrahim, A. Sakhi, N. Mikou, and K. Bouayed. "O007. Register of hereditary auto-inflammatory diseases in a pediatric rheumatology unit." Rheumatology 60, Supplement_5 (2021). http://dx.doi.org/10.1093/rheumatology/keab723.006.

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Abstract Background Autoinflammatory diseases (AID) are a group of genetic syndromes resulting from an excessive activation of the innate immune system, caused by mutations in genes regulating the inflammatory pathways and can involve several organs. The aim of this study is to evaluate the clinical, paraclinical, epidemiogical and genetic data of Moroccan patients with confirmed AID, in order to allow a first experience of AID registry in our unit. Material We have retrospectively analyzed 30 cases of patients in our unit over a period of 13 years (between 2006 and 2019), according to inclusi

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Malcova, Hana, Tomas Milota, Zuzana Strizova, et al. "Interleukin-1 Blockade in Polygenic Autoinflammatory Disorders: Where Are We now?" Frontiers in Pharmacology 11 (January 26, 2021). http://dx.doi.org/10.3389/fphar.2020.619273.

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Polygenic autoinflammatory diseases (AIDs), such as systemic juvenile idiopathic arthritis (sJIA), adult-onset Still's disease, Kawasaki disease, idiopathic recurrent pericarditis (IRP), Behçet’s Syndrome, Crystal-induced arthropatihes such as gout or Calcium pyrophosphate deposition disease are characterized by the overexpression of inflammasome-associated genes, leading to a dysregulation of the innate immune response. The IL-1 cytokine family (IL-1α, IL-1β, IL-1Ra, IL-18, IL-36Ra, IL-36α, IL-37, IL-36β, IL-36g, IL-38, IL-33) was defined to be principally responsible for the inflammatory nat

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Zhang, Chun-Ye, Shuai Liu, Yu-Xiang Sui, and Ming Yang. "Nucleotide-binding domain, leucine-rich repeat, and pyrin domain-containing protein 3 inflammasome: From action mechanism to therapeutic target in clinical trials." World Journal of Gastrointestinal Oncology 17, no. 2 (2025). https://doi.org/10.4251/wjgo.v17.i2.100094.

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The nucleotide-binding domain, leucine-rich repeat, and pyrin domain-containing protein 3 (NLRP3) inflammasome is a critical modulator in inflammatory disease. Activation and mutation of NLRP3 can cause severe inflammation in diseases such as chronic infantile neurologic cutaneous and articular syndrome, Muckle-Wells syndrome, and familial cold autoinflammatory syndrome 1. To date, a great effort has been made to decode the underlying mechanisms of NLRP3 activation. The priming and activation of NLRP3 drive the maturation and release of active interleukin (IL)-18 and IL-1β to cause inflammatio

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Wang, Li, Wen Wen, Mengyue Deng, et al. "A Novel Mutation in the NBD Domain of NLRC4 Causes Mild Autoinflammation With Recurrent Urticaria." Frontiers in Immunology 12 (June 23, 2021). http://dx.doi.org/10.3389/fimmu.2021.674808.

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BackgroundNOD-like receptor family CARD-containing 4 protein (NLRC4) is a cytosolic protein that forms an inflammasome in response to flagellin and type 3 secretion system (T3SS) proteins from invading Gram-negative bacteria. NLRC4 mutations have been recently identified in early-onset severe autoinflammatory disorders. In this study, we reported a novel mutation in NLRC4 in two Chinese patients, who manifested with recurrent urticaria and arthralgia.MethodsWe summarized the clinical data of the two patients. Gene mutations were identified by whole-exome sequencing (WES). Swiss-PdbViewer was u

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Brehm, Anja, Jesus Adriana Almeida de, Yin Liu, et al. "Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production." October 20, 2015. https://doi.org/10.1172/jci86020.

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Autosomal recessive mutations in proteasome subunit β 8 (PSMB8), which encodes the inducible proteasome subunit β5i, cause the immune-dysregulatory disease chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE), which is classified as a proteasome-associated autoinflammatory syndrome (PRAAS). Here, we identified 8 mutations in 4 proteasome genes, PSMA3 (encodes α7), PSMB4 (encodes β7), PSMB9 (encodes β1i), and proteasome maturation protein (POMP), that have not been previously associated with disease and 1 mutation in PSMB8 that has not been previously re

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Ayoubi, Riham, Bolívar Sara González, Peter McPherson, and Carl Laflamme. "Antibody Characterization Report for NLRP3 (UniProt ID: Q96P20)." June 12, 2024. https://doi.org/10.5281/zenodo.11623952.

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This report provides a guide for selecting high-quality commercial antibodies against NACHT, LRR, and PYD domains-containing protein 3 (NLRP3). Fourteen anti-NLRP3 antibodies were evaluated using western blot analysis with THP-1 WT and NLRP3 KO lysates, treated and untreated with PMA, as well as with culture medium. Immunoprecipitation experiments were conducted using THP-1 WT and NLRP3 KO lysates, treated and untreated with PMA. The characterization data was generated using a standardized protocol that compares read-outs in knockout cell lines and their isogenic parental controls. Thank you t

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