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Newly identified intronic and known pathogenic point mutations in SLC34A3/NPT2c cause hereditary hypophosphatemic rickets with hypercalciuria 新发现的 SLC34A3/NPT2c 内含子突变和已知致病点突变导致遗传性低磷性佝偻病和高钙尿症
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2024-05-07 DOI: 10.1016/j.gendis.2024.101318
Yujing Sun , Yuan Liu , Xiaoli Zhang, Ling Jiang
{"title":"Newly identified intronic and known pathogenic point mutations in SLC34A3/NPT2c cause hereditary hypophosphatemic rickets with hypercalciuria","authors":"Yujing Sun , Yuan Liu , Xiaoli Zhang, Ling Jiang","doi":"10.1016/j.gendis.2024.101318","DOIUrl":"10.1016/j.gendis.2024.101318","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 2","pages":"Article 101318"},"PeriodicalIF":6.9,"publicationDate":"2024-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140941540","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}
引用次数: 0
SET-NUP214-induced hypermethylation landscape promotes abnormal overexpression of HOXC cluster genes in acute megakaryoblastic leukemia SET-NUP214 诱导的高甲基化景观促进了急性巨核细胞白血病中 HOXC 簇基因的异常过度表达
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2024-05-07 DOI: 10.1016/j.gendis.2024.101320
Akhilesh Kaushal, Samrat Roy Choudhury
{"title":"SET-NUP214-induced hypermethylation landscape promotes abnormal overexpression of HOXC cluster genes in acute megakaryoblastic leukemia","authors":"Akhilesh Kaushal, Samrat Roy Choudhury","doi":"10.1016/j.gendis.2024.101320","DOIUrl":"10.1016/j.gendis.2024.101320","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 2","pages":"Article 101320"},"PeriodicalIF":6.9,"publicationDate":"2024-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140941636","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}
引用次数: 0
De novo missense variants of UNC13A are implicated in epileptic encephalopathies and neurodevelopmental disorders UNC13A 的新发错义变体与癫痫性脑病和神经发育障碍有关
IF 6.8 2区 医学
Genes & Diseases Pub Date : 2024-05-06 DOI: 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":"10 1","pages":""},"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}
引用次数: 0
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis 与线性角化病有关的 MVK 基因表皮二次突变
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2024-04-29 DOI: 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":"12 1","pages":"Article 101314"},"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}
引用次数: 0
BBOX1, LACC1, MMP7 and SSTR1 as common predictors in obesity and non-alcoholic fatty liver disease BBOX1、LACC1、MMP7 和 SSTR1 是肥胖和非酒精性脂肪肝的共同预测因子
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2024-04-24 DOI: 10.1016/j.gendis.2024.101310
Chaoyuan Huang , Guoming Chen , Dongqiang Luo , Jiyuan Zheng , Nan Zhong , Danyun Li , Yang Luo , Peizhen Huang , Ning Wang , Yibin Feng , Yiyuan Zheng
{"title":"BBOX1, LACC1, MMP7 and SSTR1 as common predictors in obesity and non-alcoholic fatty liver disease","authors":"Chaoyuan Huang , Guoming Chen , Dongqiang Luo , Jiyuan Zheng , Nan Zhong , Danyun Li , Yang Luo , Peizhen Huang , Ning Wang , Yibin Feng , Yiyuan Zheng","doi":"10.1016/j.gendis.2024.101310","DOIUrl":"10.1016/j.gendis.2024.101310","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 2","pages":"Article 101310"},"PeriodicalIF":6.9,"publicationDate":"2024-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140769857","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}
引用次数: 0
ZIP4 inhibits Ephrin-B1 ubiquitination, activating Wnt5A/JNK/ZEB1 to promote liver cancer metastasis ZIP4 抑制 Ephrin-B1 泛素化，激活 Wnt5A/JNK/ZEB1 促进肝癌转移
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2024-04-24 DOI: 10.1016/j.gendis.2024.101312
Haijun Guo , Renyi Su , Xinfeng Lu , Hui Zhang , Xuyong Wei , Xiao Xu
{"title":"ZIP4 inhibits Ephrin-B1 ubiquitination, activating Wnt5A/JNK/ZEB1 to promote liver cancer metastasis","authors":"Haijun Guo , Renyi Su , Xinfeng Lu , Hui Zhang , Xuyong Wei , Xiao Xu","doi":"10.1016/j.gendis.2024.101312","DOIUrl":"10.1016/j.gendis.2024.101312","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"11 6","pages":"Article 101312"},"PeriodicalIF":6.9,"publicationDate":"2024-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352304224001090/pdfft?md5=1ebfd249983e7838500e7629bbfc444d&pid=1-s2.0-S2352304224001090-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140756192","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}
引用次数: 0
Rare dentin defects: Understanding the pathophysiological mechanisms of COLXVA1 mutations 罕见的牙本质缺陷：了解 COLXVA1 基因突变的病理生理机制
IF 6.8 2区 医学
Genes & Diseases Pub Date : 2024-04-20 DOI: 10.1016/j.gendis.2024.101303
Isaac Maximiliano Bugueno , Tristan Rey , Alexandra Jimenez-Armijo , Marzena Kawczynski , Naji Kharouf , Marie-Cécile Manière , Yann Herault , Agnès Bloch-Zupan , Virginie Haushalter-Laugel
{"title":"Rare dentin defects: Understanding the pathophysiological mechanisms of COLXVA1 mutations","authors":"Isaac Maximiliano Bugueno , Tristan Rey , Alexandra Jimenez-Armijo , Marzena Kawczynski , Naji Kharouf , Marie-Cécile Manière , Yann Herault , Agnès Bloch-Zupan , Virginie Haushalter-Laugel","doi":"10.1016/j.gendis.2024.101303","DOIUrl":"10.1016/j.gendis.2024.101303","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"11 5","pages":"Article 101303"},"PeriodicalIF":6.8,"publicationDate":"2024-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352304224001004/pdfft?md5=2583c40dfeeb5fe646c230e4153528d5&pid=1-s2.0-S2352304224001004-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140760271","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}
引用次数: 0
Vitamin D binding protein in psychiatric and neurological disorders: Implications for diagnosis and treatment 精神和神经疾病中的维生素 D 结合蛋白：对诊断和治疗的影响
IF 6.8 2区 医学
Genes & Diseases Pub Date : 2024-04-15 DOI: 10.1016/j.gendis.2024.101309
Ling Li , Bing Han , Yan Kong , Gaojia Zhang , Zhijun Zhang
{"title":"Vitamin D binding protein in psychiatric and neurological disorders: Implications for diagnosis and treatment","authors":"Ling Li ,&nbsp;Bing Han ,&nbsp;Yan Kong ,&nbsp;Gaojia Zhang ,&nbsp;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":"11 5","pages":"Article 101309"},"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}
引用次数: 0
Profiling the cell diversity and tissue structure of aqueous humor circulatory system in human eyes using spatial single-cell RNA sequencing 利用空间单细胞 RNA 测序分析人眼眼房水循环系统的细胞多样性和组织结构
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2024-04-12 DOI: 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":"12 1","pages":"Article 101304"},"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}
引用次数: 0
The crosstalk between non-coding RNAs and oxidative stress in cancer progression 非编码 RNA 与氧化应激在癌症进展中的相互影响
IF 6.8 2区 医学
Genes & Diseases Pub Date : 2024-04-10 DOI: 10.1016/j.gendis.2024.101286
Qiqi Sun, Xiaoyong Lei, Xiaoyan Yang
{"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":"49 1","pages":""},"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}
引用次数: 0
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