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Identification of a variant in NLRP3 gene in a patient with Muckle-Wells syndrome: a case report and review of literature Summary of the Case Report A case of Muckle-Wells Syndrome (MWS) was reported in a patient from a family with a history of the disease. The patient was diagnosed with MWS based on clinical features and laboratory findings. Genetic analysis revealed a novel variant in the NLRP3 gene. The variant was not found in any of the databases and was classified as a pathogenic variant. This is the first report of a novel variant in the NLRP3 gene in a ...

Motion Lubrication Suppressed Mechanical Activation via Hydrated Fibrous Gene Patch for Tendon Healing Summary of the Study This study aimed to investigate the effects of motion lubrication suppressed mechanical activation (MLSMA) on tendon healing. The study used a hydrated fibrous gene patch (HFGP) to deliver genes to the tendon. The results showed that MLSMA with HFGP improved the healing of the tendon. The study concluded that MLSMA with HFGP is a promising approach for tendon healing. Detailed Summary of the Study This study aimed to investigate the effects of motion lubrication suppressed mechanical activation (MLSMA) on tendon healing. The study ...

Identification of a variant in NLRP3 gene in a patient with Muckle-Wells syndrome: a case report and review of literature Summary of the Case Report A case of Muckle-Wells Syndrome (MWS) was reported in a patient from a family with a history of autoinflammatory diseases. The patient presented with recurrent episodes of fever, rash, and arthralgia. Genetic analysis revealed a novel variant in the NLRP3 gene. The variant was not found in any of the databases, suggesting it is a novel mutation. The patient was treated with anakinra, which resulted in a significant improvement in symptoms. This case report highlights ...

Author Correction: Defective HNF4alpha-dependent gene expression as a driver of hepatocellular failure in alcoholic hepatitis Summary of the Article Alcoholic hepatitis (AH) is a severe form of alcoholic liver disease (ALD) that is characterized by inflammation and necrosis of the liver. Hepatocyte nuclear factor 4 alpha (HNF4α) is a transcription factor that plays a key role in the regulation of hepatic gene expression. In this study, the authors investigated the role of HNF4α in the pathogenesis of AH. They found that HNF4α expression was significantly decreased in AH patients compared to healthy controls. They also found that HNF4α-dependent gene expression ...

Author Correction: Defective HNF4alpha-dependent gene expression as a driver of hepatocellular failure in alcoholic hepatitis Summary of https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9918510/ Alcoholic hepatitis (AH) is a severe form of alcoholic liver disease (ALD) characterized by inflammation and necrosis of the liver. Hepatocyte nuclear factor 4 alpha (HNF4α) is a transcription factor that plays a critical role in the regulation of hepatic gene expression. In this study, the authors investigated the role of HNF4α in the pathogenesis of AH. They found that HNF4α expression was significantly decreased in AH patients compared to healthy controls. They also found that HNF4α-dependent gene expression was significantly decreased ...

The role of non-additive gene action on gene expression variation in plant domestication Summary of the article Non-additive gene action is an important factor in the domestication of plants. It is the interaction between two or more genes that results in a phenotype that is different from the sum of the individual gene effects. Non-additive gene action can be divided into two categories: dominance and epistasis. Dominance is the effect of one gene on the expression of another gene, while epistasis is the effect of two or more genes on the expression of a single gene. Non-additive gene action has ...

Open-source curation of a pancreatic ductal adenocarcinoma gene expression analysis platform (pdacR) supports a two-subtype model Summary of the Study The study aimed to develop an open-source gene expression analysis platform for pancreatic ductal adenocarcinoma (PDAC) and to evaluate its performance in identifying two distinct subtypes of PDAC. The platform, called pdacR, was developed using publicly available gene expression data from PDAC patients. The platform was evaluated using a variety of methods, including hierarchical clustering, principal component analysis, and gene set enrichment analysis. The results showed that pdacR was able to accurately identify two distinct subtypes of PDAC, which were ...

Open-source curation of a pancreatic ductal adenocarcinoma gene expression analysis platform (pdacR) supports a two-subtype model Summary of the Study This study aimed to develop an open-source gene expression analysis platform for pancreatic ductal adenocarcinoma (PDAC) and to evaluate its performance in identifying two distinct subtypes of PDAC. The platform, called pdacR, was developed using publicly available gene expression data from PDAC patients. The platform was evaluated using a variety of methods, including hierarchical clustering, principal component analysis, and gene set enrichment analysis. The results showed that pdacR was able to accurately identify two distinct subtypes of PDAC, which were ...

Weighted gene co-expression network-based identification of genetic effect of mRNA vaccination and previous infection on SARS-CoV-2 infection Summary of the Study This study aimed to identify the genetic effects of mRNA vaccination and previous infection on SARS-CoV-2 infection. The authors used a weighted gene co-expression network analysis (WGCNA) to identify gene modules associated with mRNA vaccination and previous infection. The authors identified two gene modules associated with mRNA vaccination and previous infection. The authors found that the mRNA vaccination-associated gene module was enriched for genes involved in immune response and inflammation. The authors also found that the previous infection-associated gene ...

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