Pub Date : 2026-02-19DOI: 10.1186/s10020-026-01424-5
Amirhossein Ghorbanpour, Pejman Rohani, Shabnam Shahrokh, Georges Dimitrov, Mehdi Totonchi, Stefan Dimitrov
Background: Inflammatory bowel disease (IBD) is a chronic disease that lead to impaired quality of life, affecting individuals across diverse age groups and ethnic backgrounds. Despites extensive research, the etiology and the underlying mechanisms of IBD remain unclear. However, genetic, epigenetic, immune, and environmental factors are recognized as critical contributors to the onset, progression, and persistence of the disease.
Main body: Over the last decades, genome-wide association studies (GWAS) and high-throughput sequencing have identified numerous common risk loci and rare pathogenic variants associated with IBD, while emerging multi-omics approaches are expected to refine how these genetic factors affect specific cell types and pathways involved in IBD pathogenesis. In-depth studies using distinct in vitro and in vivo models have further elucidated the impact of these variants on intestinal inflammation, enhancing our understanding of the genetic basis of certain forms of IBD. Although, the interaction of these variants with environmental triggers is yet to be investigated. These models have also opened new avenues for the development of diagnostic and therapeutic strategies.
Conclusion: This review focuses on the genetic bases of IBD, with a particular emphasis on its monogenic forms, and highlights the role of in vitro and in vivo models in unraveling IBD pathogenesis and advancing treatment modalities.
{"title":"Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.","authors":"Amirhossein Ghorbanpour, Pejman Rohani, Shabnam Shahrokh, Georges Dimitrov, Mehdi Totonchi, Stefan Dimitrov","doi":"10.1186/s10020-026-01424-5","DOIUrl":"10.1186/s10020-026-01424-5","url":null,"abstract":"<p><strong>Background: </strong>Inflammatory bowel disease (IBD) is a chronic disease that lead to impaired quality of life, affecting individuals across diverse age groups and ethnic backgrounds. Despites extensive research, the etiology and the underlying mechanisms of IBD remain unclear. However, genetic, epigenetic, immune, and environmental factors are recognized as critical contributors to the onset, progression, and persistence of the disease.</p><p><strong>Main body: </strong>Over the last decades, genome-wide association studies (GWAS) and high-throughput sequencing have identified numerous common risk loci and rare pathogenic variants associated with IBD, while emerging multi-omics approaches are expected to refine how these genetic factors affect specific cell types and pathways involved in IBD pathogenesis. In-depth studies using distinct in vitro and in vivo models have further elucidated the impact of these variants on intestinal inflammation, enhancing our understanding of the genetic basis of certain forms of IBD. Although, the interaction of these variants with environmental triggers is yet to be investigated. These models have also opened new avenues for the development of diagnostic and therapeutic strategies.</p><p><strong>Conclusion: </strong>This review focuses on the genetic bases of IBD, with a particular emphasis on its monogenic forms, and highlights the role of in vitro and in vivo models in unraveling IBD pathogenesis and advancing treatment modalities.</p>","PeriodicalId":18813,"journal":{"name":"Molecular Medicine","volume":"32 1","pages":"26"},"PeriodicalIF":6.4,"publicationDate":"2026-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12918551/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146227472","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-02-19DOI: 10.1186/s10020-026-01442-3
Ramanaiah Mamillapalli, Karthik Pyneni, Kennedy Watson, Shutaro Habata, Nimisha Gawde, Hugh S Taylor
{"title":"Redefining the contribution of retrograde menstruation to endometriosis: single-cell analysis of endometriotic lesions suggests a process more complex than simple autografting.","authors":"Ramanaiah Mamillapalli, Karthik Pyneni, Kennedy Watson, Shutaro Habata, Nimisha Gawde, Hugh S Taylor","doi":"10.1186/s10020-026-01442-3","DOIUrl":"https://doi.org/10.1186/s10020-026-01442-3","url":null,"abstract":"","PeriodicalId":18813,"journal":{"name":"Molecular Medicine","volume":" ","pages":""},"PeriodicalIF":6.4,"publicationDate":"2026-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146227508","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Exploring the mechanism of endothelial Pim-1 upregulation of tissue factor to initiate the hypercoagulable state in sepsis.","authors":"Qing Wang, Yun Hong, Ying Wang, Rongrong Zhang, Chen Zhou, Jingye Pan","doi":"10.1186/s10020-026-01433-4","DOIUrl":"https://doi.org/10.1186/s10020-026-01433-4","url":null,"abstract":"","PeriodicalId":18813,"journal":{"name":"Molecular Medicine","volume":" ","pages":""},"PeriodicalIF":6.4,"publicationDate":"2026-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146181154","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-02-10DOI: 10.1186/s10020-026-01428-1
Elena Casanueva-Álvarez, Alba Sanz-González, Alicia Vilas, Patricia Cámara-Torres, Magalie A Ravier, Sara Eslava-Alcon, M Carmen Duran-Ruiz, Cristina M Ramírez, Peristera-Ioanna Petropoulou, Teresa Rodriguez-Calvo, Beatriz Merino, Germán Perdomo, Irene Cozar-Castellano
{"title":"Glucagon secretion by pancreatic alpha-cells requires an intact tubulin-cytoskeleton-primary cilium axis.","authors":"Elena Casanueva-Álvarez, Alba Sanz-González, Alicia Vilas, Patricia Cámara-Torres, Magalie A Ravier, Sara Eslava-Alcon, M Carmen Duran-Ruiz, Cristina M Ramírez, Peristera-Ioanna Petropoulou, Teresa Rodriguez-Calvo, Beatriz Merino, Germán Perdomo, Irene Cozar-Castellano","doi":"10.1186/s10020-026-01428-1","DOIUrl":"10.1186/s10020-026-01428-1","url":null,"abstract":"","PeriodicalId":18813,"journal":{"name":"Molecular Medicine","volume":" ","pages":""},"PeriodicalIF":6.4,"publicationDate":"2026-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12990396/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146157671","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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