Genes & DiseasesPub Date : 2025-01-10DOI: 10.1016/j.gendis.2025.101528
Meng Ao , Shunxiang Zhang , Yun Ouyang , Shucong Li , Heqian Ma , Meizhen Guo , Xuelin Dai , Qianhui Xia , Xiaoying Zhang
{"title":"A novel mutation in the KLHL17 gene is associated with neurodevelopmental disorders","authors":"Meng Ao , Shunxiang Zhang , Yun Ouyang , Shucong Li , Heqian Ma , Meizhen Guo , Xuelin Dai , Qianhui Xia , Xiaoying Zhang","doi":"10.1016/j.gendis.2025.101528","DOIUrl":"10.1016/j.gendis.2025.101528","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 5","pages":"Article 101528"},"PeriodicalIF":6.9,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144185659","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}
Genes & DiseasesPub Date : 2025-01-10DOI: 10.1016/j.gendis.2025.101524
Huamin Yin , Lian Duan , Zhendong Wang , Li Liu , Jingling Shen
{"title":"Fibroblast growth factor 8: Multifaceted role in development and developmental disorder","authors":"Huamin Yin , Lian Duan , Zhendong Wang , Li Liu , Jingling Shen","doi":"10.1016/j.gendis.2025.101524","DOIUrl":"10.1016/j.gendis.2025.101524","url":null,"abstract":"<div><div>Fibroblast growth factor 8 (FGF8), a secreted signaling molecule, involves in regulating cell survival, proliferation, migration, and differentiation. It exhibits a highly dynamic gene expression pattern throughout embryonic development, participates in craniofacial structures, limbs, internal organs, brain development, and is crucial during organogenesis. The dysregulation of precise localization and dosage of FGF8 at distinct embryonic stages can lead to developmental multiorgan abnormalities. This comprehensive review explores the <em>FGF8</em> expression in humans and mice, summarizes the involvement of FGF8 in various tissues including craniofacial, limbs, cardiovascular and urogenital system, nephrogenesis, lung, and brain development as well as developmental abnormalities resulting from the aberrant regulations of FGF8 such as skeletal abnormalities, ciliopathies, and holoprosencephaly.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 5","pages":"Article 101524"},"PeriodicalIF":6.9,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144261498","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}
Genes & DiseasesPub Date : 2025-01-08DOI: 10.1016/j.gendis.2025.101525
Hui-Qi Qu , Joseph T. Glessner , Charlly Kao , Hakon Hakonarson
{"title":"Data-informed insights into sex differences in peripheral blood mononuclear cells from single-cell transcriptomics","authors":"Hui-Qi Qu , Joseph T. Glessner , Charlly Kao , Hakon Hakonarson","doi":"10.1016/j.gendis.2025.101525","DOIUrl":"10.1016/j.gendis.2025.101525","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 5","pages":"Article 101525"},"PeriodicalIF":6.9,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144185658","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}
Genes & DiseasesPub Date : 2025-01-08DOI: 10.1016/j.gendis.2025.101521
Xiujuan Wu , Xuanni Tan , Yangqiu Bao , Wenting Yan, Yi Zhang
{"title":"Landscape of metabolic alterations and treatment strategies in breast cancer","authors":"Xiujuan Wu , Xuanni Tan , Yangqiu Bao , Wenting Yan, Yi Zhang","doi":"10.1016/j.gendis.2025.101521","DOIUrl":"10.1016/j.gendis.2025.101521","url":null,"abstract":"<div><div>Breast cancer, the most prevalent cancer in women, poses a significant threat to their health. One of the prominent characteristics of malignant transformation in breast cancer cells is metabolic reprogramming, which encompasses glucose, lipid, and amino acid metabolism. Notably, breast cancer cells exhibit augmented energy metabolism and heightened glycolysis. In addition, there is an escalated demand for glutamine, which is met through intrinsic synthesis, uptake from extracellular sources via membrane transport proteins, or up-regulation of key metabolic enzymes in the glutamine metabolism pathway. Lipids not only serve as an energy source for tumor cells but also function as signaling molecules for intercellular communication. Extensive research in recent years has focused on unraveling the intricate mechanisms underlying metabolic reprogramming. Consequently, genes implicated in these processes have emerged as clinical therapeutic targets for cancer treatment. This review provides a comprehensive summary of the common metabolic alterations observed in cancer cells, discusses the factors and regulatory mechanisms influencing these changes, and explores potential therapeutic targets and strategies within the realm of cancer metabolism.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 5","pages":"Article 101521"},"PeriodicalIF":6.9,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144222127","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}
Genes & DiseasesPub Date : 2025-01-08DOI: 10.1016/j.gendis.2025.101520
Minqi Liu, Xiaoping Yang
{"title":"Patient-derived xenograft models: Current status, challenges, and innovations in cancer research","authors":"Minqi Liu, Xiaoping Yang","doi":"10.1016/j.gendis.2025.101520","DOIUrl":"10.1016/j.gendis.2025.101520","url":null,"abstract":"<div><div>Despite advancing therapeutic treatments, cancer remains the leading cause of death worldwide, with most of its patients developing drug resistance and recurrence after initial treatment. Therefore, incorporating preclinical models that mimic human cancer biology and drug responses is essential for improving treatment efficacy and prognosis. Patient-derived xenograft (PDX) models, as a promising and reliable preclinical trial platform, retain key features of the original tumor such as gene expression profiles, histopathological features, drug responses, and molecular signatures more faithfully compared with traditional tumor cell line models and cell line-derived xenograft models. Their significant advantages have been the preferred choice in cancer research, especially demonstrating remarkable potential in drug development, clinical combination therapy, and precision medicine. However, the successful construction and effective application of PDX models still face several challenges. In this review, we summarize the details of constructing PDX models and the drivers affecting their success rates, which will provide some theoretical basis for subsequent model optimization. In the meantime, we delineate the strengths and weaknesses of various mature PDX models and other developing preclinical models, including PDX-derived models, organoids, and genetically engineered models. Moreover, we highlight the challenges of newly developed technologies on the PDX models. Finally, we emphasize the innovative usage of PDX models in a variety of cancer studies and offer insights into their prospects.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 5","pages":"Article 101520"},"PeriodicalIF":6.9,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144222126","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}