Purpose Of Review: To describe the recent studies on the genetics of systemic lupus erythematosus (SLE) and Sjögren's syndrome.
Recent Findings: We overview the most recent findings on the genetic susceptibility of the diseases and provide information on their genetic similarities and differences.
Summary: SLE and Sjögren's syndrome are two closely related systemic autoimmune diseases that share multiple clinical and molecular aspects, including a significant number of susceptibility genes. Several genome-wide association studies were recently published in different populations that provide a better picture of their molecular mechanisms. It is becoming clear that their genetic architecture is quite well established, but more information is required on expression quantitative trait loci, epigenetic genome-wide analyses, gene × gene interactions and the role of rare variants.
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http://dx.doi.org/10.1097/BOR.0000000000000310 | DOI Listing |
Nat Commun
December 2024
Department of Vascular Surgery, Zhongshan Hospital, Fudan University, 200032, Shanghai, China.
Adverse aortic remodeling increases the risk of aorta-related adverse events (AAEs) after thoracic endovascular aortic repair (TEVAR) and affects the overall prognosis of aortic dissection (AD). It is imperative to delve into the exploration of prognostic indicators to streamline the identification of individuals at elevated risk for postoperative AAEs, and therapeutic targets to optimize the efficacy of TEVAR for patients with AD. Here, we perform proteomic and single-cell transcriptomic analyses of peripheral blood and aortic lesions, respectively, from patients with AD and healthy subjects.
View Article and Find Full Text PDFNat Commun
December 2024
Department of Synthetic Biology and Immunology, National Institute of Chemistry, Ljubljana, Slovenia.
Inflammasomes are defense complexes that utilize cytokines and immunogenic cell death (ICD) to stimulate the immune system against pathogens. Inspired by their dual action, we present cytokine-armed pyroptosis as a strategy for boosting immune response against diverse types of tumors. To induce pyroptosis, we utilize designed tightly regulated gasdermin D variants comprising different pore-forming capabilities and diverse modes of activation, representing a toolbox of ICD inducers.
View Article and Find Full Text PDFNat Commun
December 2024
Department of Molecular and Medical Genetics, Oregon Health & Science University School of Medicine, Portland, OR, USA.
AAV vectors show promise for gene therapy; however, kidney gene transfer remains challenging. Here we conduct a barcode-seq-based comparison of 47 AAV capsids administered through different routes in mice, followed by individual validation. We find that local delivery of AAV-KP1, but not AAV9, via the renal vein or pelvis effectively transduces proximal tubules with minimal off-target liver transduction, while systemic AAV9, but not AAV-KP1, enhances proximal tubule and podocyte transduction in chronic kidney disease.
View Article and Find Full Text PDFFront Immunol
December 2024
Priority Area Chronic Lung Diseases, Research Center Borstel - Leibniz Lung Center, Members of the German Center for Lung Research (DZL), Borstel, Germany.
Introduction: Autoantibody-mediated complement activation plays an essential role in a variety of autoimmune disorders. However, the role of complement in systemic sclerosis (SSc) remains largely unknown. In this study, we aimed to determine the role of complement C3 in the development of a recently described SSc mouse model based on autoimmunity to angiotensin II receptor type 1 (AT1R).
View Article and Find Full Text PDFJ Med Case Rep
December 2024
School of Dentistry, China Medical University, Taichung, 404, Taiwan, Republic of China.
Background: Maxillary canine impaction can result in malocclusion, temporomandibular joint complications, and esthetic concerns, thus influencing craniofacial development. Although cases of impacted canines are not uncommon in clinical practice, the likelihood of simultaneous bilateral impaction is extremely low; very few reports have documented cases of bilaterally symmetrical, inversely impacted canines.
Case Presentation: This paper reports a rare case of maxillary canine impaction, a condition characterized by the abnormal eruption of teeth.
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