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关键词： coding change   HLA-A*03:505   NGS  

摘要： HLA-A*03:505 contains a single nucleotide substitution at nucleotide position 236 (GAG to GCG).

关键词： C*15:271N   HLA-C   NGS   organ transplantation  

摘要： HLA-C*15:271N differs from HLA-C*15:02:01:01 by an insertion in exon 3 leading to a premature termination codon.

关键词： HLA   HLA-A*03:512   novel allele   sequencing-based typing  

摘要： HLA-A*03:512 differs from HLA-A*03:01:01:01 by one nucleotide substitution in codon 238 in exon 4.

关键词： Congenital idiopathic megaoesophagus   risk-test   MCHR2gene   White Swiss shepherd   Berger Blanc Suisse  

摘要： Gene tests play an important role for controlling monogenetic diseases because they reveal a genotype for each tested dog and thereby allow for the selection of animals with a lower genetic burden. For some complex inherited diseases and anomalies so called risk-tests are available and may support the selection of breeding animals. They analyze DNA-sequence variants which render a higher risk for carriers to develop a disease or anomaly. The usefulness of a risk-test for congenital idiopathic megaoesophagus (CIMtest) in German shepherds was analyzed in the closely related breed of White Swiss shepherds. The results showed clearly that the CIM-test in this breed is almost not informative, and a selection would probably not reduce the prevalence but only lower the genetic variability. Breeders and owners should be informed accordingly.

关键词： Bullous pemphigoid   Carbamazepine   Clinical utility   DPP-4 inhibitor   Salazosulfapyridine  

摘要： The association of human leukocyte antigen (HLA) with the risk of drug-induced skin eruptions has been extensively studied. The sensitivity of the association of specific HLA alleles with drug eruptions ranges from approximately 50 to 100%, indicating a significant influence of HLA alleles on the risk of developing such reactions. Consequently, HLA testing holds substantial clinical potential as a genetic diagnostic tool to avoid drug eruptions. For instance, when prescribing drugs like carbamazepine and lamotrigine, which are known to cause severe drug eruptions, preemptive HLA genetic testing can help predict an individual's risk. This approach enables clinicians to reduce the overall incidence of drug eruptions by selecting alternative therapeutic agents or adjusting dosages based on the results of HLA genetic testing. (c) 2025 Japanese Society of Allergology. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://***/licenses/by-nc-nd/4.0/).

关键词： Diabetic kidney disease   Hypoxia   Sirt1   Hif-1(   Morusin  

摘要： Background and Purpose: Hypoxia is generally considered the major cause of renal tubular injury. The interaction between sirtuin 1 (SIRT1) and hypoxia inducible factor 1 subunit alpha (HIF-1 alpha) is a key mediator of hypoxiainduced renal tubular damage. In this study, we identified morusin from a screen of SIRT1 inducers and reported its potential for the treatment of diabetic kidney disease (DKD). Experimental Approach: Intraperitoneal injection of morusin in db/db and STZ-induced diabetic mice was assessed for its effect on tubulointerstitial damage. The expression and acetylation level of HIF-1 alpha were analyzed by immunoblotting or immunostaining. The effects of morusin treatment on hypoxia-induced extracellular matrix (ECM) accumulation, apoptosis and IL-16 production in HK2 cells were evaluated by immunoblotting. Luciferase reporter gene and ChIP analysis was used to determine whether IL-16 was the target genes of HIF-1 alpha. Key Results: In db/db and STZ-induced mice, morusin treatment alleviated kidney injury and inhibited renal inflammation and fibrosis. Mechanistic analysis using animal models and HK2 cells revealed that morusin treatment upregulated SIRT1 expression by enhancing its stability, and reduced the expression and acetylation levels of HIF-1 alpha as well as expression of its regulated genes, thereby inhibiting ECM accumulation, apoptosis and IL-16 production. Furthermore, morusin decreased expression of the IL-16 through inhibited HIF-1 alpha binding to the IL-16 promoter. Conclusion and Implications: Our study is the first to demonstrate that morusin ameliorated tubulointerstitial damage in diabetic mice by regulating SIRT1/HIF-1 alpha/IL-16 signaling pathway. Taken together, our findings suggest that morusin is a clinical candidate compound to prevent DKD.

关键词： ferroptosis   glycolysis   HIF-1 alpha   IL-10R alpha   MOF   osteoarthritis  

摘要： Osteoarthritis (OA) is a low-grade inflammatory disease that is highly associated with severe hyperplasia of the synovial membrane and the degeneration of cartilage. Interleukin-10 (IL-10), has been extensively studied, while its receptor, IL-10R alpha, has not been widely mentioned in the context of OA. A significant difference is found in the expression of IL-10R alpha in synovial macrophages from normal and OA patients, along with a marked increase in the glycolytic activity of synovial macrophages. In IL-10R alpha Lysm OA mice, the specific deficiency of IL-10R alpha exacerbated the progression of OA. Mechanistically, hypoxia-inducible factor-1 alpha (HIF-1 alpha) is identified as a key transcription factor, and its inhibition significantly weakened the glycolytic process. Additionally, differences in ferroptosis of chondrocytes are observed. After co-culturing the two types of cells in vitro, a significant connection is found between the glycolytic state of synovial macrophages and the ferroptosis of chondrocytes. To achieve targeted therapy, MI@UN, a biomimetic nanoparticle encapsulating NO-prednisolone in UIO-66-NH2, surface-modified with IL-10, and coated with macrophage membranes (MM), is developed. It significantly slows osteoarthritis progression in mice. This offers new insights into OA pathogenesis, highlighting IL-10R alpha as a therapeutic target and supporting MI@UN's translational use for OA treatment.

关键词： HLA-C   nanotype sequencing   null allele   sequencing-based typing  

摘要： The novel HLA-C*08:307 N allele has a four-nucleotide insertion in exon 2.

关键词： Ionic liquids   Microwave Irradiation   Solvents   Additives   Nanomaterials  

摘要： The synergy between ionic liquids (ILs) and microwave (MW) irradiation has sparked a significant interest in material synthesis in general and nanomaterials in particular, revolutionizing the field of materials science. This review explores the fundamental properties and unique attributes of ILs, emphasizing their role as solvents, additives, templates, making them ideal for synthesizing materials, particularly nanomaterials like metals, metal oxides, and doped nanoparticles. The microwave assisted synthesis approach is discussed next vis-& agrave;-vis their advantages such as volumetric heating, reduced reaction times, enhanced yields and facile scalability. A new synthetic approach is also expounded on, where in very small quantity of an ionic liquid (IL), as an additive, can be coupled with low heating microwave solvents (non-polar solvents) and subjected to microwave-irradiation. The new strategy of Ionic-liquid (IL) Mediated Microwave Synthesis (ILMMAS), can be particularly important in nanomaterial synthesis, as the non-polar solvents can be heated very quickly under microwave irradiation. This review emphasizes the crucial role of ILs in advancing nanomaterial synthesis and highlights their synergy with microwave irradiation for sustainable and efficient material synthesis processes.