Evelina Maines, Caterina Rizzardi, M. Bolognani, F. Soli, Giovanni Piccoli, M. Soffiati, R. Franceschi
{"title":"Prenatal Diagnosis of a Case of Severe DGUOK Deficiency Did Not Affect the Postnatal Outcomes","authors":"Evelina Maines, Caterina Rizzardi, M. Bolognani, F. Soli, Giovanni Piccoli, M. Soffiati, R. Franceschi","doi":"10.14218/ge.2023.00023","DOIUrl":"https://doi.org/10.14218/ge.2023.00023","url":null,"abstract":"","PeriodicalId":12502,"journal":{"name":"Gene expression","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44601256","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Priyal Gupta, Kajal B. Patel, G. Garg, Bijina J. Mathew, D. Kale, Jitendra Singh, S. Khadanga, S. Purwar, D. Biswas, Anirudh K. Singh, A. Vyas
{"title":"Imbalance of T Helper Cell Subset Specific Transcription Factors and Associated Cytokines in Patients with Severe COVID-19","authors":"Priyal Gupta, Kajal B. Patel, G. Garg, Bijina J. Mathew, D. Kale, Jitendra Singh, S. Khadanga, S. Purwar, D. Biswas, Anirudh K. Singh, A. Vyas","doi":"10.14218/ge.2023.00016","DOIUrl":"https://doi.org/10.14218/ge.2023.00016","url":null,"abstract":"","PeriodicalId":12502,"journal":{"name":"Gene expression","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46589042","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
F. Iheagwam, Olawumi Toyin Iheagwam, O. Ogunlana, S. N. Chinedu
{"title":"Terminalia catappa Leaf Abrogates Diabetes-induced Dyslipidaemia in Type 2 Diabetic Rats by Upregulating Lipid Metabolic Genes","authors":"F. Iheagwam, Olawumi Toyin Iheagwam, O. Ogunlana, S. N. Chinedu","doi":"10.14218/ge.2023.00053","DOIUrl":"https://doi.org/10.14218/ge.2023.00053","url":null,"abstract":"","PeriodicalId":12502,"journal":{"name":"Gene expression","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47404999","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Acute Fatty Liver of Pregnancy Complicated with Sepsis","authors":"Nita H. Shah, Prachi Chug, Y. Shah","doi":"10.14218/ge.2023.00006","DOIUrl":"https://doi.org/10.14218/ge.2023.00006","url":null,"abstract":"","PeriodicalId":12502,"journal":{"name":"Gene expression","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46991156","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ranran Shi, N. Geng, Zhenzhen Zhao, Yong Zhou, Yongning Xin
Dubin-Johnson syndrome (DJS), also known as chronic idiopathic jaundice, black liver-jaundice syndrome, etc. most often develops in adolescents or young adults, and is more common in males, with clinical manifestations of asymptomatic long-term mild-moderate jaundice. The disease belongs to hereditary non-hemolytic jaundice. It is an autosomal recessive genetic disease caused by variants in the ATP-binding cassette subfamily C member ( ABCC2 ) gene. It is characterized by intermittent, predominantly conjugated hyperbilirubinemia and liver pigmentation. Routine ABCC2 gene variant analysis can help in the diagnosis of DJS. In the present study, we reported a patient with Dubin-Johnson syndrome who underwent jaundice-related gene sequencing and identified two novel unknown and significant variants: c.2439+5G>A(p.?) and c.2345_2347del (p.Tyr782_Leu783delinsPhe) of the ABCC2
{"title":"Two Novel Variants of Undetermined Significance in the ABCC2 Gene Were Identified in a Patient with Dubin-Johnson Syndrome","authors":"Ranran Shi, N. Geng, Zhenzhen Zhao, Yong Zhou, Yongning Xin","doi":"10.14218/ge.2022.00019","DOIUrl":"https://doi.org/10.14218/ge.2022.00019","url":null,"abstract":"Dubin-Johnson syndrome (DJS), also known as chronic idiopathic jaundice, black liver-jaundice syndrome, etc. most often develops in adolescents or young adults, and is more common in males, with clinical manifestations of asymptomatic long-term mild-moderate jaundice. The disease belongs to hereditary non-hemolytic jaundice. It is an autosomal recessive genetic disease caused by variants in the ATP-binding cassette subfamily C member ( ABCC2 ) gene. It is characterized by intermittent, predominantly conjugated hyperbilirubinemia and liver pigmentation. Routine ABCC2 gene variant analysis can help in the diagnosis of DJS. In the present study, we reported a patient with Dubin-Johnson syndrome who underwent jaundice-related gene sequencing and identified two novel unknown and significant variants: c.2439+5G>A(p.?) and c.2345_2347del (p.Tyr782_Leu783delinsPhe) of the ABCC2","PeriodicalId":12502,"journal":{"name":"Gene expression","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46968224","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Alcohol-related liver disease is a major public health problem, with a varying clinical course and often devastating consequences. Its spectrum can vary from alcohol-related fatty liver, alcoholic hepatitis, cirrhosis
{"title":"Genes in Alcoholic Liver Disease: A Complex Interplay","authors":"S. Dawra, M. Manrai","doi":"10.14218/ge.2023.00004","DOIUrl":"https://doi.org/10.14218/ge.2023.00004","url":null,"abstract":"Alcohol-related liver disease is a major public health problem, with a varying clinical course and often devastating consequences. Its spectrum can vary from alcohol-related fatty liver, alcoholic hepatitis, cirrhosis","PeriodicalId":12502,"journal":{"name":"Gene expression","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45089464","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Climate change (CC) represents a public health issue that affects the global burden of various diseases, with the possibility of premature deaths. Several studies have observed that CC influences the appearance and geographic distribution of different global health issues, through significant environmental and weather change patterns related to water, air and food products, as well as ecosystems, agriculture, industries, settlements, economies, temperature changes, and precipitation. 1,2 A recently published data revealed that CC has hazardous impacts on different aspects of hepatic health. First, CC may result in the rise of communicable/ non-communicable liver diseases, due to deforestation/encroachment into animal habitats. Thus, several species were forced to migrate to areas in close contact with humans, increasing the risk and remap of the distribution of communicable liver diseases. On the other hand, CC interacts with several factors that affect the development, concentration, and dispersion of air pollutants, which result in various non-communicable liver diseases. That is, atmospheric stability restricts the dispersion
{"title":"Impact of Climate Change on Hepatic Health from Pathogenic Perspectives: The Iceberg That Sank Titanic Ship!","authors":"Nourhan Badwei","doi":"10.14218/ge.2023.00018","DOIUrl":"https://doi.org/10.14218/ge.2023.00018","url":null,"abstract":"Climate change (CC) represents a public health issue that affects the global burden of various diseases, with the possibility of premature deaths. Several studies have observed that CC influences the appearance and geographic distribution of different global health issues, through significant environmental and weather change patterns related to water, air and food products, as well as ecosystems, agriculture, industries, settlements, economies, temperature changes, and precipitation. 1,2 A recently published data revealed that CC has hazardous impacts on different aspects of hepatic health. First, CC may result in the rise of communicable/ non-communicable liver diseases, due to deforestation/encroachment into animal habitats. Thus, several species were forced to migrate to areas in close contact with humans, increasing the risk and remap of the distribution of communicable liver diseases. On the other hand, CC interacts with several factors that affect the development, concentration, and dispersion of air pollutants, which result in various non-communicable liver diseases. That is, atmospheric stability restricts the dispersion","PeriodicalId":12502,"journal":{"name":"Gene expression","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44910541","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Rapidly proliferating cancer cells exhibit a high energy demand. However, their utilization of the glycolytic pathway is inefficient, leading to a compensatory effect wherein cancer cells consume ten to twenty times more glucose than normal cells. In cases where glucose availability is limited due to a poorly perfused hypoxic microenvironment, cancer cells resort to alternative energy sources, including fructose. Certain tumors have been found to rely heavily on fructose, and fructose utilization contributes to pro-tumoral signaling and increased cancer risk. Over the past 70 years, dietary fructose intake has steadily increased, resulting in a rise in obesity and metabolic syndrome, both of which elevate cancer risk. In this paper, we present compelling evidence that highlights the role of fructose and the glucose transporter GLUT5 in promoting specific types of tumors. We summarize the existing evidence and pathways through which fructose contributes to cancer metabolism, particularly in cases where glucose availability is restricted. Furthermore, we propose a hypothesis that elucidates the regulation of the lipogenic phenotype by dietary fructose intake and cellular energy status. It is important to note that the effects of fructose are context-dependent, with its tumor-promoting effects varying based on the energy status of the cell. We comprehensively analyze why targeting fructose uptake and fructolysis should be important for the management of some tumors and cancer prevention
{"title":"Fructose, Another Sweet for Cancer: A Context Acting Nutrient Hypothesis","authors":"T. Koltai, L. Fliegel","doi":"10.14218/ge.2023.00014","DOIUrl":"https://doi.org/10.14218/ge.2023.00014","url":null,"abstract":"Rapidly proliferating cancer cells exhibit a high energy demand. However, their utilization of the glycolytic pathway is inefficient, leading to a compensatory effect wherein cancer cells consume ten to twenty times more glucose than normal cells. In cases where glucose availability is limited due to a poorly perfused hypoxic microenvironment, cancer cells resort to alternative energy sources, including fructose. Certain tumors have been found to rely heavily on fructose, and fructose utilization contributes to pro-tumoral signaling and increased cancer risk. Over the past 70 years, dietary fructose intake has steadily increased, resulting in a rise in obesity and metabolic syndrome, both of which elevate cancer risk. In this paper, we present compelling evidence that highlights the role of fructose and the glucose transporter GLUT5 in promoting specific types of tumors. We summarize the existing evidence and pathways through which fructose contributes to cancer metabolism, particularly in cases where glucose availability is restricted. Furthermore, we propose a hypothesis that elucidates the regulation of the lipogenic phenotype by dietary fructose intake and cellular energy status. It is important to note that the effects of fructose are context-dependent, with its tumor-promoting effects varying based on the energy status of the cell. We comprehensively analyze why targeting fructose uptake and fructolysis should be important for the management of some tumors and cancer prevention","PeriodicalId":12502,"journal":{"name":"Gene expression","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42946674","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background and objectivesNon-alcoholic fatty liver disease (NAFLD) is the most common chronic liver disease in developed countries, contributing to ∼24% of cases worldwide and includes non-alcoholic steatohepatitis. NAFLD is characterized by lipid accumulation rather than alcohol consumption. There are several diagnostic/prognostic biomarkers for NAFLD including CK-18, ALT, AST, GGT, and haptoglobin, but with limited sensitivity and specificity. Therefore, high-throughput OMICS approaches have been used to characterize NAFLD conditions for the identification of potential molecular signatures or differentially regulated molecules (DEMs) and early detection of NAFLD.
{"title":"Non-alcoholic Fatty Liver Disease (NAFLD): A Systematic Review and Meta-analysis from an Omics Perspective","authors":"Luxita Sharma, Manoj Kumar Kashyap, Dhananjay Sharma","doi":"10.14218/ge.2023.00005","DOIUrl":"https://doi.org/10.14218/ge.2023.00005","url":null,"abstract":"Background and objectivesNon-alcoholic fatty liver disease (NAFLD) is the most common chronic liver disease in developed countries, contributing to ∼24% of cases worldwide and includes non-alcoholic steatohepatitis. NAFLD is characterized by lipid accumulation rather than alcohol consumption. There are several diagnostic/prognostic biomarkers for NAFLD including CK-18, ALT, AST, GGT, and haptoglobin, but with limited sensitivity and specificity. Therefore, high-throughput OMICS approaches have been used to characterize NAFLD conditions for the identification of potential molecular signatures or differentially regulated molecules (DEMs) and early detection of NAFLD.","PeriodicalId":12502,"journal":{"name":"Gene expression","volume":"47 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135859775","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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