Pub Date : 2024-05-06DOI: 10.1016/j.gendis.2024.101315
Ke Su, Yu Ma, Mingshan Zhou, Yihan Liu, Chengjie Li, Yonghui Jiang, Qihui Wu, Gang Peng, Yi Wang, Shaohua Fan
{"title":"De novo missense variants of UNC13A are implicated in epileptic encephalopathies and neurodevelopmental disorders","authors":"Ke Su, Yu Ma, Mingshan Zhou, Yihan Liu, Chengjie Li, Yonghui Jiang, Qihui Wu, Gang Peng, Yi Wang, Shaohua Fan","doi":"10.1016/j.gendis.2024.101315","DOIUrl":"https://doi.org/10.1016/j.gendis.2024.101315","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":null,"pages":null},"PeriodicalIF":6.8,"publicationDate":"2024-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140941442","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 : 2024-04-29DOI: 10.1016/j.gendis.2024.101314
{"title":"Epidermal second-hit mutation in MVK gene associated with linear porokeratosis","authors":"","doi":"10.1016/j.gendis.2024.101314","DOIUrl":"10.1016/j.gendis.2024.101314","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":null,"pages":null},"PeriodicalIF":6.9,"publicationDate":"2024-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352304224001119/pdfft?md5=85ef90036caa8d681f93958113de10da&pid=1-s2.0-S2352304224001119-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140883072","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 : 2024-04-15DOI: 10.1016/j.gendis.2024.101309
Ling Li , Bing Han , Yan Kong , Gaojia Zhang , Zhijun Zhang
Vitamin D binding protein (VDBP) serves as a key transporter protein responsible for binding and delivering vitamin D and its metabolites to target organs. VDBP plays a crucial part in the inflammatory reaction following tissue damage and is engaged in actin degradation. Recent research has shed light on its potential role in various diseases, leading to a growing interest in understanding the implications of VDBP in psychiatric and neurological disorders. The purpose of this review was to provide a summary of the existing understanding regarding the involvement of VDBP in neurological and psychiatric disorders. By examining the intricate interplay between VDBP and these disorders, this review contributes to a deeper understanding of underlying mechanisms and potential therapeutic avenues. Insights gained from the study of VDBP could pave the way for novel strategies in the diagnosis, prognosis, and treatment of psychiatric and neurological disorders.
维生素 D 结合蛋白（VDBP）是一种关键的转运蛋白，负责结合维生素 D 及其代谢物并将其输送到目标器官。VDBP 在组织损伤后的炎症反应中起着至关重要的作用，并参与肌动蛋白降解。最近的研究揭示了 VDBP 在各种疾病中的潜在作用，因此人们对了解 VDBP 在精神和神经疾病中的影响越来越感兴趣。本综述旨在总结现有的关于 VDBP 参与神经和精神疾病的认识。通过研究 VDBP 与这些疾病之间错综复杂的相互作用，本综述有助于加深对潜在机制和潜在治疗途径的理解。从 VDBP 研究中获得的见解可为精神和神经疾病的诊断、预后和治疗的新策略铺平道路。
{"title":"Vitamin D binding protein in psychiatric and neurological disorders: Implications for diagnosis and treatment","authors":"Ling Li , Bing Han , Yan Kong , Gaojia Zhang , Zhijun Zhang","doi":"10.1016/j.gendis.2024.101309","DOIUrl":"10.1016/j.gendis.2024.101309","url":null,"abstract":"<div><p>Vitamin D binding protein (VDBP) serves as a key transporter protein responsible for binding and delivering vitamin D and its metabolites to target organs. VDBP plays a crucial part in the inflammatory reaction following tissue damage and is engaged in actin degradation. Recent research has shed light on its potential role in various diseases, leading to a growing interest in understanding the implications of VDBP in psychiatric and neurological disorders. The purpose of this review was to provide a summary of the existing understanding regarding the involvement of VDBP in neurological and psychiatric disorders. By examining the intricate interplay between VDBP and these disorders, this review contributes to a deeper understanding of underlying mechanisms and potential therapeutic avenues. Insights gained from the study of VDBP could pave the way for novel strategies in the diagnosis, prognosis, and treatment of psychiatric and neurological disorders.</p></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":null,"pages":null},"PeriodicalIF":6.8,"publicationDate":"2024-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352304224001065/pdfft?md5=959d52b7b2ecc6dabca840639ce07d70&pid=1-s2.0-S2352304224001065-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140793700","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 : 2024-04-12DOI: 10.1016/j.gendis.2024.101304
{"title":"Profiling the cell diversity and tissue structure of aqueous humor circulatory system in human eyes using spatial single-cell RNA sequencing","authors":"","doi":"10.1016/j.gendis.2024.101304","DOIUrl":"10.1016/j.gendis.2024.101304","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":null,"pages":null},"PeriodicalIF":6.9,"publicationDate":"2024-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140758400","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 : 2024-04-10DOI: 10.1016/j.gendis.2024.101286
Qiqi Sun, Xiaoyong Lei, Xiaoyan Yang
As living standards elevate, cancers are appearing in growing numbers among younger individuals globally and these risks escalate with advancing years. One of the reasons is that instability in the cancer genome reduces the effectiveness of conventional drug treatments and chemotherapy, compared with more targeted therapies. Previous research has discovered non-coding RNAs' crucial role in shaping genetic networks involved in cancer cell growth and invasion through their influence on messenger RNA production or protein binding. Additionally, the interaction between non-coding RNAs and oxidative stress, a crucial process in cancer advancement, cannot be overlooked. Essentially, oxidative stress results from the negative effects of radicals within the body and ties directly to cancer gene expression and signaling. Therefore, this review focuses on the mechanism between non-coding RNAs and oxidative stress in cancer progression, which is conducive to finding new cancer treatment strategies.
{"title":"The crosstalk between non-coding RNAs and oxidative stress in cancer progression","authors":"Qiqi Sun, Xiaoyong Lei, Xiaoyan Yang","doi":"10.1016/j.gendis.2024.101286","DOIUrl":"https://doi.org/10.1016/j.gendis.2024.101286","url":null,"abstract":"As living standards elevate, cancers are appearing in growing numbers among younger individuals globally and these risks escalate with advancing years. One of the reasons is that instability in the cancer genome reduces the effectiveness of conventional drug treatments and chemotherapy, compared with more targeted therapies. Previous research has discovered non-coding RNAs' crucial role in shaping genetic networks involved in cancer cell growth and invasion through their influence on messenger RNA production or protein binding. Additionally, the interaction between non-coding RNAs and oxidative stress, a crucial process in cancer advancement, cannot be overlooked. Essentially, oxidative stress results from the negative effects of radicals within the body and ties directly to cancer gene expression and signaling. Therefore, this review focuses on the mechanism between non-coding RNAs and oxidative stress in cancer progression, which is conducive to finding new cancer treatment strategies.","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":null,"pages":null},"PeriodicalIF":6.8,"publicationDate":"2024-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140582388","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}
Cancer-associated cachexia (CAC) is a severe metabolic disorder syndrome mainly characterized by muscle and fat loss, which accounts for one-third of cancer-related deaths. No effective therapeutic approach that could fully reverse CAC is available. NF-κB signaling and oxidative stress play vital roles in both muscle atrophy and fat loss in CAC. Here, we showed that our developed oral compound Z526 exhibited potent anti-CAC efficacy by inhibiting NF-κB signaling and ameliorating oxidative stress. , Z526 alleviated C2C12 myotube atrophy and 3T3-L1 adipocyte lipolysis induced by conditioned mediums of multiple cachectic tumor cells or pro-cachectic inflammatory cytokines. , Z526 attenuated the cachectic symptoms of C26 or LLC tumor-bearing mice. Z526 treatment reduced weight loss without impacting tumor growth and improved muscle atrophy, fat loss, and impaired grip force. Besides, serum TNF-α and IL-6 levels were reduced after Z526 treatment in C26 tumor-bearing mice. Of note, Z526 significantly prolonged the survival of LLC tumor-bearing mice. Activated NF-κB signaling and oxidative stress in cachectic muscle and fat tissues were reversed by Z526. Furthermore, Z526 exhibited a promising preclinical safety profile. Thus, oral Z526, which exhibited potent anti-CAC activities and , multiple interventions in diverse pathogenic mechanisms (NF-κB signaling and oxidative stress), and a favorable preclinical safety profile, holds the promise to be developed into a novel and beneficial therapeutic option for CAC.
{"title":"Novel oral compound Z526 mitigates cancer-associated cachexia via intervening NF-κB signaling and oxidative stress","authors":"Xiaofan Gu, Shanshan Lu, Shuang Xu, Yiwei Li, Meng Fan, Guangyu Lin, Yiyuan Liu, Yun Zhao, Weili Zhao, Xuan Liu, Xiaochun Dong, Xiongwen Zhang","doi":"10.1016/j.gendis.2024.101292","DOIUrl":"https://doi.org/10.1016/j.gendis.2024.101292","url":null,"abstract":"Cancer-associated cachexia (CAC) is a severe metabolic disorder syndrome mainly characterized by muscle and fat loss, which accounts for one-third of cancer-related deaths. No effective therapeutic approach that could fully reverse CAC is available. NF-κB signaling and oxidative stress play vital roles in both muscle atrophy and fat loss in CAC. Here, we showed that our developed oral compound Z526 exhibited potent anti-CAC efficacy by inhibiting NF-κB signaling and ameliorating oxidative stress. , Z526 alleviated C2C12 myotube atrophy and 3T3-L1 adipocyte lipolysis induced by conditioned mediums of multiple cachectic tumor cells or pro-cachectic inflammatory cytokines. , Z526 attenuated the cachectic symptoms of C26 or LLC tumor-bearing mice. Z526 treatment reduced weight loss without impacting tumor growth and improved muscle atrophy, fat loss, and impaired grip force. Besides, serum TNF-α and IL-6 levels were reduced after Z526 treatment in C26 tumor-bearing mice. Of note, Z526 significantly prolonged the survival of LLC tumor-bearing mice. Activated NF-κB signaling and oxidative stress in cachectic muscle and fat tissues were reversed by Z526. Furthermore, Z526 exhibited a promising preclinical safety profile. Thus, oral Z526, which exhibited potent anti-CAC activities and , multiple interventions in diverse pathogenic mechanisms (NF-κB signaling and oxidative stress), and a favorable preclinical safety profile, holds the promise to be developed into a novel and beneficial therapeutic option for CAC.","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":null,"pages":null},"PeriodicalIF":6.8,"publicationDate":"2024-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140582610","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 : 2024-04-08DOI: 10.1016/j.gendis.2024.101290
{"title":"Novel heterozygous missense variants in the TOE1 gene linked to pontocerebellar hypoplasia type 7","authors":"","doi":"10.1016/j.gendis.2024.101290","DOIUrl":"10.1016/j.gendis.2024.101290","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":null,"pages":null},"PeriodicalIF":6.9,"publicationDate":"2024-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140582386","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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