Genes & Diseases Open Access Editors-in-Chief: Ailong Huang, Tong-Chuan He
Home Genes & Diseases All Issues Volume 12 Issue 4
Volume 12 Issue 4, July 2025
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RAPID COMMUNICATION
Rapid Communication | Open Access
Unraveling RUNX2 mutation in a cleidocranial dysplasia patient: Molecular insights into osteogenesis and proteostasis
Luca Dalle Carbonare, Arianna Minoia, Alberto Gandini, [...], Francesca Cristiana Piritore, Cristina Patuzzo, Lucrezia Ceretti, Anna Vareschi, Antonino Aparo, Mattia Cominacini, Giovanni Malerba, Maria Grazia Romanelli, Joao Pessoa, Daniele Guardavaccaro, Franco Antoniazzi, Maria Teresa Valenti << Fewer
Published: 06 November 2024
2025, 12(4): 101449
Rapid Communication | Open Access
Exploring the role of FTO in preeclampsia pathogenesis: Insights into m6A modification and decidualization
Jing Tong, Liang Zhang, Jing Bai, Cong Zhang
Published: 24 December 2024
2025, 12(4): 101504
Rapid Communication | Open Access
GATA2 up-regulation restores androgen receptor chromatin association and advances darolutamide resistance in prostate cancer
Tianyi Zhou, Chengtai Yu, Yali Han, [...], Bin He, Qin Feng << Fewer
Published: 28 December 2024
2025, 12(4): 101508
Rapid Communication | Open Access
Characterization of a novel HIV-1 second-generation circulating recombinant form (CRF144_07C) in Ganzhou, China
Xiaoyi Zhang, Hongmin Cao, Yating Chen, [...], Chaoxian Lian, Ting Zeng, Junjie Liu, Junzhi Su, Qian Gao, Fengxiu Zhu, Yuning Zhang, Dandan Huang, Yanheng Zhou, Xin Chen << Fewer
Published: 30 October 2024
2025, 12(4): 101443
Rapid Communication | Open Access
Clinically relevant variants detected in Chinese children with global developmental delay/intellectual disability: An exome-wide sequencing study
Yimeng Qiao, Nan Lv, Tongchuan Li, [...], Ye Cheng, Yunqian Li, Jiqiang Dong, Meimei Han, Yang Gu, Qing Shang, Qinghe Xing << Fewer
Published: 09 August 2024
2025, 12(4): 101389
Rapid Communication | Open Access
A novel mutation in KDR is associated with retinal venous beading and cerebral cavernous malformation
Xiaonan Zhuang, Yuqiao Ju, Gezhi Xu, Xin Huang
Published: 13 August 2024
2025, 12(4): 101390
Rapid Communication | Open Access
The MTMR11 variants identified in a short stature cohort compromise the dephosphorylation ability of MTM1 on SMAD5 to up-regulate BMP signaling
Kai Yang, Hongdou Li, Rui Peng, [...], Bo Wu, Yiping Shen, Tongjin Zhao, Chentao Li, Weimin Wang, Hongyan Wang << Fewer
Published: 21 August 2024
2025, 12(4): 101393
Rapid Communication | Open Access
OSdream: An online survival and differential analysis tool of recurrence and metastasis of pan-cancers
Huimin Li, Qiang Wang, Yunyi Liu, [...], Lin Chen, Qiwei Zhao, Longxiang Xie, Lu Zhang, Zhongyi Yan, Guosen Zhang, Yali Han, Wan Zhu, Xiangqian Guo << Fewer
Published: 30 October 2024
2025, 12(4): 101446
Rapid Communication | Open Access
IL-17 signaling pathway in SPP1+ macrophages drives digestive tract cancer progression
Yihong Wei, Ying Xu, Yanqiong Zeng, [...], Amin Zhang, Xiangling Xing, Wancheng Liu << Fewer
Published: 14 December 2024
2025, 12(4): 101489
Rapid Communication | Open Access
CRISPR/Cas9 screening reveals Zfp607b as a novel transcription factor regulating myogenesis
Siyuan Liu, Wei Wang, Zishuai Wang, [...], Chao Yan, Guohao Han, Weiwei Liu, Yuxing Huang, Wangchang Li, Shengsong Xie, Zhonglin Tang << Fewer
Published: 30 October 2024
2025, 12(4): 101444
Rapid Communication | Open Access
Systematic pan-cancer analysis identifies DNASE2 as a potential prognostic marker and immunotherapeutic target for glioblastoma multiforme
Jun Cao, Si Chen, Ping An, [...], Xingqiang Wang, Xinru Xiao, Shichao Li, Ye Cheng << Fewer
Published: 10 September 2024
2025, 12(4): 101431
Rapid Communication | Open Access
ISG15 regulates auto-inflammation by modulating NF-κB signaling pathway
Meiqi Hou, Chao Yuan, Xiaopei Zhou, [...], Zhenxing Liu, Nianyi Sun, Jinze Li, Xianqin Zhang << Fewer
Published: 12 November 2024
2025, 12(4): 101462
Rapid Communication | Open Access
Cooperative progression of colitis and leukemia modulated by clonal hematopoiesis via PTX3/IL-1β pro-inflammatory signaling
Hang He, Yuchen Wen, Qingran Huo, [...], Hanzhi Yu, Jingjing Liu, Wenyan Jin, Zhiqin Wang, Huaquan Wang, Zhigang Zhao, Zhigang Cai << Fewer
Published: 23 August 2024
2025, 12(4): 101397
Rapid Communication | Open Access
Epigenetic modulation of thyroid cancer metastasis and glycolysis through circSSU72-mediated ubiquitination of gamma-catenin and beta-catenin signaling
Zeyu Zhang, Duntao Su, Xiangyuan Qiu, [...], Lei Yao, Fada Xia, Xinying Li << Fewer
Published: 07 December 2024
2025, 12(4): 101485
Rapid Communication | Open Access
Arhgap29 deficiency causes EEC like syndrome in mice
Dandan Chi, Yumeng Wang, Lili Yu, [...], Wenyan Ruan, Beibei Zhang, Jian Ma, Xiaohong Duan, Yongqing Huang << Fewer
Published: 07 September 2024
2025, 12(4): 101404
Rapid Communication | Open Access
PTEN and novel TEK germline variants associated with the phenotypes of PTEN hamartoma tumor syndrome
Hongrui Chen, Bin Sun, Yanchun Zhou, [...], Chen Hua, Xiaoxi Lin << Fewer
Published: 16 November 2024
2025, 12(4): 101466
Rapid Communication | Open Access
Identification of a disease-associated germline mutation (A64T) of the ring finger protein 186 gene (RNF186) in Korean patients with ulcerative colitis
Sang-Hun Park, Sae-Young Won, Yong-Chan Kim
Published: 06 October 2024
2025, 12(4): 101438
Rapid Communication | Open Access
Proteomic profiling of exosomes leads to the identification of a candidate biomarker for prostate cancer progression
MyeongHoon Yeon, Ah Reum Lee, Youngbum Yoo, [...], Won-Kyeong Kim, Hyeon-Bin Shin, Hae Un Kook, Soon-Cheol Ahn, Myunggon Ko, Inkyung Jung, Chan Young Park, Young-Kyo Seo << Fewer
Published: 12 November 2024
2025, 12(4): 101463
Rapid Communication | Open Access
Identification of the underlying molecular mechanisms of primary biliary cholangitis and ulcerative colitis comorbidity
Weijia Han, Ting Song, Qi Wang, Chunyang Huang
Published: 26 November 2024
2025, 12(4): 101470
Rapid Communication | Open Access
Autoantigenic peptide landscape of rheumatoid arthritis-associated HLA class Ⅱ
Irina A. Ishina, Anton P. Zhiyanov, Inna N. Kurbatskaia, [...], Azad E. Mamedov, Stepan A. Nersisyan, Rustam H. Ziganshin, Igor E. Eliseev, Yunna S. Petrusenko, Anastasia V. Nikonova, Elizaveta S. Zhbanova, Maria A. Salnikova, Leyla A. Ovchinnikova, Ilgar Z. Mamedov, Alexey N. Davydov, Kamila S. Nurbaeva, Tatiana A. Lisitsyna, Tatiana M. Reshetnyak, Alexander M. Lila, Evgeniy L. Nasonov, Yakov A. Lomakin, Alexey A. Belogurov Jr., Hongkai Zhang, Alexander G. Tonevitskiy, Yury P. Rubtsov, Alexander G. Gabibov, Maria Y. Zakharova << Fewer
Published: 26 November 2024
2025, 12(4): 101469
Rapid Communication | Open Access
A causal association between immune cells and hypertrophic cardiomyopathy: A bidirectional Mendelian randomization study
Fang He, Qiangzhong Pi, Jun Yang, [...], Mengning Wan, Jiang Yu, Ding Yang, Yongzheng Guo, Xiaorong Li << Fewer
Published: 21 January 2025
2025, 12(4): 101539
REVIEW ARTICLE
Review Article | Open Access
MicroRNAs in adipose tissue fibrosis: Mechanisms and therapeutic potential
Mei Tian, Yang Zhou, Yitong Guo, [...], Qing Xia, Zehua Wang, Xinying Zheng, Jinze Shen, Junping Guo, Shiwei Duan, Lijun Wang << Fewer
Published: 05 April 2024
2025, 12(4): 101287
Review Article | Open Access
Nrf2: A key regulator in chemoradiotherapy resistance of osteosarcoma
Xianglin Peng, Jing Feng, Han Yang, [...], Ping Xia, Feifei Pu << Fewer
Published: 22 May 2024
2025, 12(4): 101335
Review Article | Open Access
GOT2: New therapeutic target in pancreatic cancer
Jiarui Bu, Zeyu Miao, Qing Yang
Published: 02 July 2024
2025, 12(4): 101370
Review Article | Open Access
The significance of small noncoding RNAs in the pathogenesis of cardiovascular diseases
Hemanyun Bai, Fanji Meng, Kangling Ke, [...], Lingyan Fang, Weize Xu, Haitao Huang, Xiao Liang, Weiyan Li, Fengya Zeng, Can Chen << Fewer
Published: 30 May 2024
2025, 12(4): 101342
Review Article | Open Access
Advances in the mechanism and therapies of achondroplasia
Hangang Chen, Ruobin Zhang, Min Jin, [...], Jing Yang, Lin Chen, Yangli Xie << Fewer
Published: 24 September 2024
2025, 12(4): 101436
Review Article | Open Access
Citrullination in health and disease: From physiological function to gene regulation
Xiaoya Zhang, Guiqiu Xie, Lang Rao, Chaoguang Tian
Published: 22 June 2024
2025, 12(4): 101355
Review Article | Open Access
Lipid metabolism involved in progression and drug resistance of breast cancer
Wenxiang Fu, Aijun Sun, Huijuan Dai
Published: 15 July 2024
2025, 12(4): 101376
Review Article | Open Access
Emerging roles for fatty acid oxidation in cancer
Jialin Ma, Shuxian Wang, Pingfeng Zhang, [...], Sihao Zheng, Xiangpan Li, Juanjuan Li, Huadong Pei << Fewer
Published: 20 December 2024
2025, 12(4): 101491
Review Article | Open Access
The role of RNA binding proteins in cancer biology: A focus on FMRP
Yunlu Jia, Ruyin Jia, Yongxia Chen, [...], Xuanyi Lin, Nadire Aishan, Han li, Linbo Wang, Xiaochen Zhang, Jian Ruan << Fewer
Published: 21 December 2024
2025, 12(4): 101493
Review Article | Open Access
Anaplastic thyroid cancer: Genetic roles, targeted therapy, and immunotherapy
Zhao Zou, Linhong Zhong
Published: 30 August 2024
2025, 12(4): 101403
Review Article | Open Access
Update on R-loops in genomic integrity: Formation, functions, and implications for human diseases
Min Zhu, Xinyu Wang, Hongchang Zhao, Zhenjie Wang
Published: 30 August 2024
2025, 12(4): 101401
Review Article | Open Access
Nuclear pore complex protein RANBP2 and related SUMOylation in solid malignancies
Xinning Yu, Huatao Wu, Zheng Wu, [...], Yangzheng Lan, Wenjia Chen, Bingxuan Wu, Yu Deng, Jing Liu << Fewer
Published: 04 September 2024
2025, 12(4): 101407
Review Article | Open Access
The role of RGS12 in tissue repair and human diseases
Min Jiang, Hongmei Li, Qiong Zhang, [...], Tongtong Xu, Le Huang, Jinghong Zhang, Huiqing Yu, Junhui Zhang << Fewer
Published: 04 December 2024
2025, 12(4): 101480
Review Article | Open Access
Expanded insights into the mechanisms of RNA-binding protein regulation of circRNA generation and function in cancer biology and therapy
Lixia Li, Chunhui Wei, Yu Xie, [...], Yanyu Su, Caixia Liu, Guiqiang Qiu, Weiliang Liu, Yanmei Liang, Xuanna Zhao, Dan Huang, Dong Wu << Fewer
Published: 03 August 2024
2025, 12(4): 101383
Review Article | Open Access
The role of glutathione S-transferases in human disease pathogenesis and their current inhibitors
Sulaiman Mohammad Alnasser
Published: 05 December 2024
2025, 12(4): 101482
Review Article | Open Access
HER3: Unmasking a twist in the tale of a previously unsuccessful therapeutic pursuit targeting a key cancer survival pathway
Omkar Desai, Moeez Rathore, Christina S. Boutros, [...], Michel'le Wright, Elizabeth Bryson, Kimberly Curry, Rui Wang << Fewer
Published: 17 June 2024
2025, 12(4): 101354
Review Article | Open Access
Deciphering the roles of neddylation modification in hepatocellular carcinoma: Molecular mechanisms and targeted therapeutics
Wenxin Wu, Xuanyi Wang, Ruijie Ma, [...], Shuhong Huang, Hongguang Li, Xinxing Lyu << Fewer
Published: 06 December 2024
2025, 12(4): 101483
Review Article | Open Access
Mitochondrial DNA editing: Key to the treatment of neurodegenerative diseases
Ye Hong, Ying Song, Wenjun Wang, [...], Jinghui Shi, Xi Chen << Fewer
Published: 21 September 2024
2025, 12(4): 101437
Review Article | Open Access
Targeting MYC: Multidimensional regulation and therapeutic strategies in oncology
Yingying Duan, Zhaoshuo Liu, Qilin Wang, [...], Junyou Zhang, Jiaxin Liu, Ziyi Zhang, Chunyan Li << Fewer
Published: 16 September 2024
2025, 12(4): 101435
Review Article | Open Access
Epigenetic regulation of nuclear receptors: Implications for endocrine-related diseases and therapeutic strategies
Yixin Song, Kexin Zhang, Jingwen Zhang, [...], Qinying Li, Na Huang, Yujie Ma, Ningning Hou, Fang Han, Chengxia Kan, Xiaodong Sun << Fewer
Published: 04 December 2024
2025, 12(4): 101481
FULL LENGTH ARTICLE
Full Length Article | Open Access
The integration of single-cell RNA sequencing and spatial transcriptomics reveals the tumor microenvironment and spatial organization of testicular diffuse large B-cell lymphomas
Xiaolong Wu, Jie Shi, Mujun Lu, [...], Damin Yun, Sheng Gao, Longfei Hu, Fei Sun << Fewer
Published: 30 November 2024
2025, 12(4): 101475
Full Length Article | Open Access
Urinary exosomal lnc-TAF12–2:1 promotes bladder cancer progression through the miR-7847–3p/ASB12 regulatory axis
Song Chen, Jie Cheng, Shuangtai Liu, [...], Danni Shan, Ting Wang, Xinghuan Wang << Fewer
Published: 05 August 2024
2025, 12(4): 101384
Full Length Article | Open Access
Targeting METTL3 protein by proteolysis-targeting chimeras: A novel therapeutic approach for acute myeloid leukemia
Rukiye Nar, Zhixing Wu, Yafang Li, [...], Alexis Smith, Yutao Zhang, Jue Wang, Fang Yu, Sanhui Gao, Chunjie Yu, Zhiguang Huo, Guangrong Zheng, Zhijian Qian << Fewer
Published: 07 November 2024
2025, 12(4): 101452
Full Length Article | Open Access
SLC27A5 inhibits cancer stem cells by inducing alternative polyadenylation of METTL14 in hepatocellular carcinoma
Xin Tang, Junji Tao, Yuanyuan Liu, [...], Deao Gong, Xuefeng Shan, Kai Wang, Ni Tang << Fewer
Published: 10 December 2024
2025, 12(4): 101488
Full Length Article | Open Access
CRISPR/CasRx-mediated RNA knockdown targeting b-catenin and Ihh signaling alleviates osteoarthritis
Xingyun Huang, Jiamin Yu, Shixue Gou, [...], Hongyu Qin, William W. Lu, Zhen Li, Liping Tong, Di Chen << Fewer
Published: 16 November 2024
2025, 12(4): 101468
Full Length Article | Open Access
Long noncoding RNA TUG1 promotes chondrosarcoma progression and M2 polarization
Chao Li, Wei Wang, Binlong Zhong, [...], Lei Zhao, Juan Li, Yihan Yu, Zhicai Zhang, Feifei Pu, Jianxiang Liu << Fewer
Published: 30 November 2024
2025, 12(4): 101474
Full Length Article | Open Access
Lactate transporter MCT4 regulates the hub genes for lipid metabolism and inflammation to attenuate intracellular lipid accumulation in non-alcoholic fatty liver disease
Yannian Gou, Aohua Li, Xiangyu Dong, [...], Ailing Hao, Jiajia Li, Han Xiang, Saidur Rahaman, Tong-Chuan He, Jiaming Fan << Fewer
Published: 15 February 2025
2025, 12(4): 101554
Full Length Article | Open Access
Bcl6 controls the stability and suppressive function of regulatory T cells in head and neck squamous cell carcinoma
Shuqiong Wen, Xingxing Su, Junyi Guo, [...], Zhanpeng Ou, Lisha Wang, Zhengliang Yue, Jing Zhao, Ling Ran, Jianjun Hu, Yuzhu Wang, Mengqu Ran, Qinyi He, Ping Ji, Lilin Ye, Zhiyu Chen, Lifan Xu, Qizhao Huang << Fewer
Published: 26 December 2024
2025, 12(4): 101505
Full Length Article | Open Access
CSMD1 as a causative gene of developmental and epileptic encephalopathy and generalized epilepsies
Wenjun Zhang, Sheng Luo, Mi Jiang, [...], Yongxin Chen, Rongna Ren, Yunhong Wu, Pengyu Wang, Peng Zhou, Jiong Qin, Weiping Liao << Fewer
Published: 29 November 2024
2025, 12(4): 101473
Full Length Article | Open Access
NADK tetramer defective mutants affect lung cancer response to chemotherapy via controlling NADK activity
Mengxue Hu, Fuxing Wang, Yue Zhu, [...], Yi Yao, Huadong Pei, Zheng Liu, Pingfeng Zhang << Fewer
Published: 07 January 2025
2025, 12(4): 101510
Full Length Article | Open Access
The bidirectional effects of APPswe on the osteogenic differentiation of MSCs in bone homeostasis by regulating Notch signaling
Nan Wang, Xiaoyu Shen, Huakun Huang, [...], Runhan Zhao, Habu Jiwa, Zongxin Li, Pei Li, Jixing Ye, Qiang Zhou << Fewer
Published: 09 May 2024
2025, 12(4): 101317
Full Length Article | Open Access
Identification of ageing-associated gene signatures in heart failure with preserved ejection fraction by integrated bioinformatics analysis and machine learning
Guoxing Li, Qingju Zhou, Ming Xie, [...], Boying Zhao, Keyu Zhang, Yuan Luo, Lingwen Kong, Diansa Gao, Yongzheng Guo << Fewer
Published: 03 December 2024
2025, 12(4): 101478
Full Length Article | Open Access
Pan-cancer analysis of MET mutation and its association with the efficacy of immune checkpoint blockade
Lijin Chen, Yingying Li, Hong Zhao, [...], Jinyuan Huang, Huimeng Yan, Xiaoyan Lin, Bin Zhao << Fewer
Published: 08 November 2024
2025, 12(4): 101450
Full Length Article | Open Access
SIRT5 promotes the osteo-inductive potential of BMP9 by stabilizing the HIF-1α protein in mouse embryonic fibroblasts
Lu Liu, Fanglin Ye, Yue Jiang, [...], Wenting Liu, Dongmei He, Wenge He, Xiang Gao, Hang Liu, Junyi Liao, Baicheng He, Fang He << Fewer
Published: 18 February 2025
2025, 12(4): 101563