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Medical Bioinformatics

Section edited by Michele Ceccarelli

© metamorworks / Getty Images / iStockThe explosion of genome sequencing data along with genotype to phenotype correlation studies has created data deluge in the area of biomedical sciences. The aim of the Medical bioinformatics section is to aid the development and maturation of the field by providing a platform for the translation of these datasets into useful clinical applications. The increase in computing capabilities and availability of different data from advanced technologies will allow researchers to build System Biology models of various diseases in order to efficiently develop new therapeutic interventions and reduce the current prohibitively large costs of drug discovery.


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  1. The molecular complexity of colorectal cancer poses a significant challenge to the clinical implementation of accurate risk stratification. There is still an urgent need to find better biomarkers to enhance es...

    Authors: Xiangchou Yang, Jieyu Liu, Shuaibin Wang, Wail Hussein Ahmed Al-Ameer, Jingting Ji, Jiaqi Cao, Hassan Mansour S Dhaen, Ying Lin, Yangyang Zhou and Chenguo Zheng
    Citation: Journal of Translational Medicine 2024 22:554
  2. Primary malignant brain tumours are more than one-third of all brain tumours and despite the molecular investigation to identify cancer driver mutations, the current therapeutic options available are challengi...

    Authors: Amalia Luce, Marianna Abate, Giosuè Scognamiglio, Marco Montella, Domenico Iervolino, Severo Campione, Annabella Di Mauro, Orlando Sepe, Vincenzo Gigantino, Madhura S. Tathode, Gerardo Ferrara, Roberto Monaco, Gianfranco De Dominicis, Gabriella Misso, Vittorio Gentile, Renato Franco…
    Citation: Journal of Translational Medicine 2024 22:521
  3. The aim of this study was to conduct an in silico analysis of a novel compound heterozygous variant in breast cancer susceptibility gene 2 (BRCA2) to clarify its structure–function relationship and elucidate t...

    Authors: Jingjing Li, Rui Ge, Guanming Lu, Yuanxuan Cai, Yuan Teng, Zhe Fan, Liangyan Liao, Lingjie Kong, Jinze Zhang, Tao Wei, Qian Li, Tianzhu Long, Hongyan Yu and Jie Li
    Citation: Journal of Translational Medicine 2024 22:484
  4. Osteoarthritis (OA) is a chronic degenerative joint disease causing limited mobility and pain, with no curative treatment available. Recent in vivo studies suggested autonomic alterations during OA progression...

    Authors: Rebecca Sohn, Tina Assar, Isabelle Kaufhold, Marco Brenneis, Sebastian Braun, Marius Junker, Frank Zaucke, Georg Pongratz and Zsuzsa Jenei-Lanzl
    Citation: Journal of Translational Medicine 2024 22:467
  5. Lung adenocarcinoma (LUAD) has been a leading cause of cancer-related mortality worldwide. Early intervention can significantly improve prognosis. DNA methylation could occur in the early stage of tumor. Compr...

    Authors: Junwen Gan, Meng Huang, Weishi Wang, Guining Fu, Mingyuan Hu, Hongcheng Zhong, Xin Ye and Qingdong Cao
    Citation: Journal of Translational Medicine 2024 22:428
  6. Primary testicular lymphoma (PTL) is a rare lymphoma predominantly occurring in the elderly male population. It is characterized by a limited response to treatment and a heightened tendency towards relapse. Hi...

    Authors: Weilong Zhang, Ping Yang, Yaru Yang, Shuozi Liu, Yongdeng Xu, Chaoling Wu, Jing Wang, Cuiling Liu, Hui Liu, Shuangshuang Li, Wei Huang and Hongmei Jing
    Citation: Journal of Translational Medicine 2024 22:414
  7. The specific pathogenesis of UC is still unclear, but it has been clear that defects in intestinal barrier function play an important role in it. There is a temporary lack of specific drugs for clinical treatm...

    Authors: Xinhui Zhang, Fan Zhang, Yan Li, Na Fan, Ke Zhao, Anding Zhang, Jiefang Kang, Yan Lin, Xiaochang Xue and Xun Jiang
    Citation: Journal of Translational Medicine 2024 22:406
  8. Glomerular lesions are the main injuries of diabetic nephropathy (DN) and are used as a crucial index for pathologic classification. Manual quantification of these morphologic features currently used is semi-q...

    Authors: Qunjuan Lei, Xiaoshuai Hou, Xumeng Liu, Dongmei Liang, Yun Fan, Feng Xu, Shaoshan Liang, Dandan Liang, Jing Yang, Guotong Xie, Zhihong Liu and Caihong Zeng
    Citation: Journal of Translational Medicine 2024 22:397
  9. TAS-102 (Lonsurf®) is an oral fluoropyrimidine consisting of a combination of trifluridine (a thymidine analog) and tipiracil (a thymidine phosphorylation inhibitor). The drug is effective in metastatic colorecta...

    Authors: Alessandro Ottaiano, Mariachiara Santorsola, Monica Ianniello, Anna Ceccarelli, Marika Casillo, Francesco Sabbatino, Nadia Petrillo, Marco Cascella, Francesco Caraglia, Carmine Picone, Francesco Perri, Roberto Sirica, Silvia Zappavigna, Guglielmo Nasti, Giovanni Savarese and Michele Caraglia
    Citation: Journal of Translational Medicine 2024 22:379
  10. Bladder cancer (BC) is a very common urinary tract malignancy that has a high incidence and lethality. In this study, we identified BC biomarkers and described a new noninvasive detection method using serum an...

    Authors: Tong Kong, Yang Qu, Taowa Zhao, Zitong Niu, Xiuyi Lv, Yiting Wang, Qiaojiao Ding, Pengyao Wei, Jun Fu, Liang Wang, Jing Gao, Cheng Zhou, Suying Wang, Junhui Jiang, Jianping Zheng, Kaizhe Wang…
    Citation: Journal of Translational Medicine 2024 22:314
  11. Due to their complexity and to the presence of common clinical features, differentiation between asthma and chronic obstructive pulmonary disease (COPD) can be a challenging task, complicated in such cases als...

    Authors: Serena Correnti, Mariaimmacolata Preianò, Fabia Gamboni, Daniel Stephenson, Corrado Pelaia, Girolamo Pelaia, Rocco Savino, Angelo D’Alessandro and Rosa Terracciano
    Citation: Journal of Translational Medicine 2024 22:301

    The Publisher Correction to this article has been published in Journal of Translational Medicine 2024 22:334

  12. Psoriasis is a chronic inflammatory disorder characterized by pathogenic hyperproliferation of keratinocytes and immune dysregulation. Currently, objective evaluation tools reflecting the severity of psoriasis...

    Authors: Young Joon Park, Dong Chan Kim, Soo-Jin Lee, Han Seul Kim, Ji Young Pak, Junho Kim, Jae Youn Cheong and Eun-So Lee
    Citation: Journal of Translational Medicine 2024 22:235
  13. UBXD family (UBXDF), a group of proteins containing ubiquitin regulatory X (UBX) domains, play a crucial role in the imbalance of proliferation and apoptotic in cancer. In this study, we summarised bioinformat...

    Authors: Enyu Yang, Xiaowei Fan, Haihan Ye, Xiaoyang Sun, Qing Ji, Qianyun Ding, Shulian Zhong, Shuo Zhao, Cheng Xuan, Meiyu Fang, Xianfeng Ding and Jun Cao
    Citation: Journal of Translational Medicine 2024 22:157
  14. Tumor mutational burden (TMB) has been demonstrated to predict the response to immune checkpoint inhibitors (ICIs) in various cancers. However, the role of TMB in head and neck squamous cell carcinoma (HNSCC) ...

    Authors: Juan P. Rodrigo, Mario Sánchez-Canteli, María Otero-Rosales, Pablo Martínez-Camblor, Francisco Hermida-Prado and Juana M. García-Pedrero
    Citation: Journal of Translational Medicine 2024 22:135
  15. Asthma is a chronic respiratory disease affecting millions of people worldwide, but early detection can be challenging due to the time-consuming nature of the traditional technique. Machine learning has shown ...

    Authors: Dejing Li, Stanley Ebhohimhen Abhadiomhen, Dongmei Zhou, Xiang-Jun Shen, Lei Shi and Yubao Cui
    Citation: Journal of Translational Medicine 2024 22:100
  16. Characterizing cancer molecular subtypes is crucial for improving prognosis and individualized treatment. Integrative analysis of multi-omics data has become an important approach for disease subtyping, yieldi...

    Authors: Xin Duan, Xinnan Ding and Zhuanzhe Zhao
    Citation: Journal of Translational Medicine 2024 22:79
  17. The current therapeutic algorithm for Advanced Stage Melanoma comprises of alternating lines of Targeted and Immuno-therapy, mostly via Immune-Checkpoint blockade. While Comprehensive Genomic Profiling of soli...

    Authors: Matteo Pallocca, Ivan Molineris, Enrico Berrino, Benedetta Marcozzi, Martina Betti, Lauretta Levati, Stefania D’Atri, Chiara Menin, Gabriele Madonna, Paola Ghiorzo, Jenny Bulgarelli, Virgina Ferraresi, Tiziana Venesio, Monica Rodolfo, Licia Rivoltini, Luisa Lanfrancone…
    Citation: Journal of Translational Medicine 2024 22:29
  18. No residual disease (R0 resection) after debulking surgery is the most critical independent prognostic factor for advanced ovarian cancer (AOC). There is an unmet clinical need for selecting primary or interva...

    Authors: Xiaofang Zhou, Mu Liu, Lijuan Sun, Yumei Cao, Shanmei Tan, Guangxia Luo, Tingting Liu, Ying Yao, Wangli Xiao, Ziqing Wan and Jie Tang
    Citation: Journal of Translational Medicine 2023 21:927
  19. Early microbial exposure is associate with protective allergic asthma. We have previously demonstrated that Streptococcus pneumoniae aminopeptidase N (PepN), one of the pneumococcal components, inhibits ovalbumin...

    Authors: Shifei Yao, Danlin Weng, Yan Wang, Yanyu Zhang, Qi Huang, Kaifeng Wu, Honghui Li, Xuemei Zhang, Yibing Yin and Wenchun Xu
    Citation: Journal of Translational Medicine 2023 21:898
  20. Machine learning (ML) represents a powerful tool to capture relationships between molecular alterations and cancer types and to extract biological information. Here, we developed a plain ML model aimed at dist...

    Authors: Veronica Zelli, Andrea Manno, Chiara Compagnoni, Rasheed Oyewole Ibraheem, Francesca Zazzeroni, Edoardo Alesse, Fabrizio Rossi, Claudio Arbib and Alessandra Tessitore
    Citation: Journal of Translational Medicine 2023 21:836
  21. The morbidity of cancer keeps growing worldwide, and among that, the colorectal cancer (CRC) has jumped to third. Existing early screening tests for CRC are limited. The aim of this study was to develop a diag...

    Authors: Yang Yang, Zhipeng Wang, Xinxing Li, Jianfeng Lv, Renqian Zhong, Shouhong Gao, Feng Zhang and Wansheng Chen
    Citation: Journal of Translational Medicine 2023 21:824
  22. Epitranscriptomic abnormalities, which are highly prevalent in primary central nervous system malignancies, have been identified as crucial contributors to the development and progression of gliomas. RNA epitr...

    Authors: Shengrong Long, Yu Yan, Hongyu Xu, Lesheng Wang, Jiazhi Jiang, Ziyue Xu, Runming Liu, Qiangqiang Zhou, Xiaopeng Huang, Jincao Chen, Zhiqiang Li, Wei Wei and Xiang Li
    Citation: Journal of Translational Medicine 2023 21:810
  23. In recent decades, using circulating tumor cell (CTC), circulating tumor DNA (ctDNA), circulating tumor RNA (ctRNA), exosomes and etc. as liquid biomarkers has received enormous attention in various tumors, in...

    Authors: You Shuai, Zhonghua Ma, Jie Ju, Tong Wei, Songlin Gao, Yikun Kang, Zixuan Yang, Xue Wang, Jian Yue and Peng Yuan
    Citation: Journal of Translational Medicine 2023 21:809
  24. Ulcerative colitis (UC) is a chronic inflammatory disease of the intestine characterized by a compromised intestinal epithelial barrier. Mucin glycans are crucial in preserving barrier function during bacteria...

    Authors: Juan Wei, Chunyan Chen, Jing Feng, Shuping Zhou, Xiaoyue Feng, Zhao Yang, Heng Lu, Hui Tao, Liuying Li, Huabing Xv, Ji Xuan and Fangyu Wang
    Citation: Journal of Translational Medicine 2023 21:793
  25. The precise prediction of epidermal growth factor receptor (EGFR) mutation status and gross tumor volume (GTV) segmentation are crucial goals in computer-aided lung adenocarcinoma brain metastasis diagnosis. H...

    Authors: Zichun Zhou, Min Wang, Rubin Zhao, Yan Shao, Ligang Xing, Qingtao Qiu and Yong Yin
    Citation: Journal of Translational Medicine 2023 21:788
  26. Prior research has shown that the deconvolution of cell-free RNA can uncover the tissue origin. The conventional deconvolution approaches rely on constructing a reference tissue-specific gene panel, which cann...

    Authors: Fengyao Yan, Limin Jiang, Fei Ye, Jie Ping, Tetiana Y. Bowley, Scott A. Ness, Chung-I Li, Dario Marchetti, Jijun Tang and Yan Guo
    Citation: Journal of Translational Medicine 2023 21:783
  27. Prostate cancer (PCa), a globally prevalent malignancy, displays intricate heterogeneity within its epithelial cells, closely linked with disease progression and immune modulation. However, the clinical signif...

    Authors: Weian Zhu, Hengda Zeng, Jiongduan Huang, Jianjie Wu, Yu Wang, Ziqiao Wang, Hua Wang, Yun Luo and Wenjie Lai
    Citation: Journal of Translational Medicine 2023 21:782
  28. Analyzing meningioma of distinct pathological types at the single-cell level can provide new and valuable insights into the specific biological mechanisms of each cellular subpopulation, as well as their vital...

    Authors: Hailang Fan, Lairong Song, Jian Fan, Junpeng Ma, Xiaojie Li, Junting Zhang, Jian Hu, Zhen Wu, Dake Zhang and Liang Wang
    Citation: Journal of Translational Medicine 2023 21:751
  29. Feature selection is a critical step for translating advances afforded by systems-scale molecular profiling into actionable clinical insights. While data-driven methods are commonly utilized for selecting cand...

    Authors: Mohammed Toufiq, Darawan Rinchai, Eleonore Bettacchioli, Basirudeen Syed Ahamed Kabeer, Taushif Khan, Bishesh Subba, Olivia White, Marina Yurieva, Joshy George, Noemie Jourde-Chiche, Laurent Chiche, Karolina Palucka and Damien Chaussabel
    Citation: Journal of Translational Medicine 2023 21:728
  30. Currently, there are no accurate markers for predicting potentially lethal prostate cancer (PC) before biopsy. This study aimed to develop urine tests to predict clinically significant PC (sPC) in men at risk.

    Authors: Hsiang-Po Huang, Chung-Hsin Chen, Kai-Hsiung Chang, Ming-Shyue Lee, Cheng-Fan Lee, Yen-Hsiang Chao, Shih-Yu Lu, Tzu-Fan Wu, Sung-Tzu Liang, Chih-Yu Lin, Yuan Chi Lin, Shih-Ping Liu, Yu-Chuan Lu, Chia-Tung Shun, William J. Huang, Tzu-Ping Lin…
    Citation: Journal of Translational Medicine 2023 21:714
  31. Low serum selenium and altered tumour RNA expression of certain selenoproteins are associated with a poor breast cancer prognosis. Selenoprotein expression stringently depends on selenium availability, hence c...

    Authors: Kamil Demircan, Ylva Bengtsson, Thilo Samson Chillon, Johan Vallon-Christersson, Qian Sun, Christer Larsson, Martin Malmberg, Lao H. Saal, Lisa Rydén, Åke Borg, Jonas Manjer and Lutz Schomburg
    Citation: Journal of Translational Medicine 2023 21:658
  32. The early differential diagnosis between bacterial meningitis (BM) and tuberculous meningitis (TBM) or cryptococcal meningitis (CM) remains a significant clinical challenge. Neutrophil Gelatinase-Associated Li...

    Authors: Qi Wang, Qingwen Lin, Haiyan Wang, Minjie Tang, Kengna Fan, Zeqin Zhang, Er Huang, Weiqing Zhang, Fengqing Wang, Qishui Ou and Xiaofeng Liu
    Citation: Journal of Translational Medicine 2023 21:603
  33. Accurately predicting the outcome of isocitrate dehydrogenase (IDH) wild-type glioblastoma (GBM) remains hitherto challenging. This study aims to Construct and Validate a Robust Prognostic Model for IDH wild-type...

    Authors: Hang Ji, Fang Wang, Zhihui Liu, Yue Li, Haogeng Sun, Anqi Xiao, Huanxin Zhang, Chao You, Shaoshan Hu and Yi Liu
    Citation: Journal of Translational Medicine 2023 21:533
  34. Transcriptional programs are often dysregulated in cancers. A comprehensive investigation of potential regulons is critical to the understanding of tumorigeneses. We first constructed the regulatory networks f...

    Authors: Yi Xiong, Yihao Zhang, Na Liu, Yueshuo Li, Hongwei Liu, Qi Yang, Yu Chen, Zhizhi Xia, Xin Chen, Siyi Wanggou and Xuejun Li
    Citation: Journal of Translational Medicine 2023 21:499
  35. We aimed to evaluate whether extracellular vesicles (EV)-derived microRNAs (miRNAs) can be used as biomarkers for advanced adenoma (AA) and colorectal cancer (CRC).

    Authors: Yun-Jie Shi, Yu-Xiang Fang, Tong-Guan Tian, Wei-Ping Chen, Qiang Sun, Fang-Qi Guo, Pi-Qing Gong, Chun-Mei Li, Hao Wang, Zhi-Qian Hu and Xin-Xing Li
    Citation: Journal of Translational Medicine 2023 21:421
  36. Computational drug repurposing is crucial for identifying candidate therapeutic medications to address the urgent need for developing treatments for newly emerging infectious diseases. The recent COVID-19 pand...

    Authors: Yonghyun Nam, Anastasia Lucas, Jae-Seung Yun, Seung Mi Lee, Ji Won Park, Ziqi Chen, Brian Lee, Xia Ning, Li Shen, Anurag Verma and Dokyoon Kim
    Citation: Journal of Translational Medicine 2023 21:415
  37. Cognitive dysfunction is the most common non-motor symptom in Parkinson’s disease (PD), and timely detection of a slight cognitive decline is crucial for early treatment and prevention of dementia. This study ...

    Authors: Boyu Chen, Ming Xu, Hongmei Yu, Jiachuan He, Yingmei Li, Dandan Song and Guo Guang Fan
    Citation: Journal of Translational Medicine 2023 21:310
  38. Routine screening of tumors for DNA mismatch repair (MMR) deficiency (dMMR) in colorectal (CRC), endometrial (EC) and sebaceous skin (SST) tumors leads to a significant proportion of unresolved cases classifie...

    Authors: Romy Walker, Khalid Mahmood, Jihoon E. Joo, Mark Clendenning, Peter Georgeson, Julia Como, Sharelle Joseland, Susan G. Preston, Yoland Antill, Rachel Austin, Alex Boussioutas, Michelle Bowman, Jo Burke, Ainsley Campbell, Simin Daneshvar, Emma Edwards…
    Citation: Journal of Translational Medicine 2023 21:282
  39. Remote ischemic preconditioning (RIPC) refers to a brief episode of exposure to potential adverse stimulation and prevents injury during subsequent exposure. RIPC has been shown to increase tolerance to ischem...

    Authors: Yang Du, Rui Qiu, Lei Chen, Yuewen Chen, Zhifeng Zhong, Peng Li, Fangcheng Fan and Yong Cheng
    Citation: Journal of Translational Medicine 2023 21:241
  40. This study aimed to characterize the genetic profile of patients with glioma and discuss the impact of next-generation sequencing in glioma diagnosis and treatment.

    Authors: Veronica Villani, Beatrice Casini, Antonio Tanzilli, Mario Lecce, Fabrizio Rasile, Stefano Telera, Andrea Pace, Francesca Piludu, Irene Terrenato, Francesca Rollo, Francesca De Nicola, Maurizio Fanciulli, Matteo Pallocca, Gennaro Ciliberto and Mariantonia Carosi
    Citation: Journal of Translational Medicine 2023 21:215
  41. Papillary thyroid microcarcinoma (PTMC) incidence has significantly increased, and some cases still exhibit invasive traits. The entire molecular landscape of PTMC, which can offer hints for the etiology of ca...

    Authors: Qiang Li, Tienan Feng, Tengteng Zhu, Weituo Zhang, Ying Qian, Huan Zhang, Xiangqian Zheng, Dapeng Li, Xinwei Yun, Jingzhu Zhao, Yangyang Li, Herbert Yu, Ming Gao and Biyun Qian
    Citation: Journal of Translational Medicine 2023 21:206
  42. In the repair of maxillofacial bone defects, autogenous craniofacial bone can often provide superior clinical results over long bone grafts. Most current studies have focused on the osteogenic differences betw...

    Authors: Lanxin Gu, Zhongyuan Wang, Hong Gu, Hua Wang, Luwei Liu and Wei-Bing Zhang
    Citation: Journal of Translational Medicine 2023 21:193
  43. Sepsis is a frequent complication in critically ill patients, is highly heterogeneous and is associated with high morbidity and mortality rates, especially in the elderly population. Utilizing RNA sequencing (...

    Authors: I-Chieh Chen, Hsin-Hua Chen, Yu-Han Jiang, Tzu-Hung Hsiao, Tai-Ming Ko and Wen-Cheng Chao
    Citation: Journal of Translational Medicine 2023 21:141
  44. Osteosarcoma (OS) is the most frequent and aggressive primary malignant sarcoma among adolescents and chemotherapy has not substantially progressed for decades. New insights into OS development and therapeutic...

    Authors: Yifeng Sun, Chunming Zhang, Qiongxuan Fang, Wenqiang Zhang and Wei Liu
    Citation: Journal of Translational Medicine 2023 21:99
  45. Colorectal cancer (CRC) is one of the most prevalent cancers, with over one million new cases per year. Overall, prognosis of CRC largely depends on the disease stage and metastatic status. As precision oncolo...

    Authors: Friederike Praus, Axel Künstner, Thorben Sauer, Michael Kohl, Katharina Kern, Steffen Deichmann, Ákos Végvári, Tobias Keck, Hauke Busch, Jens K. Habermann and Timo Gemoll
    Citation: Journal of Translational Medicine 2023 21:41
  46. The pathogenicity of pneumococcus with high morbidity, mortality, and multi-drug resistance patterns has been increasing. The limited coverage of the licensed polysaccharide-based vaccines and the replacement ...

    Authors: Elnaz Afshari, Reza Ahangari Cohan, Fattah Sotoodehnejadnematalahi and Seyed Fazlollah Mousavi
    Citation: Journal of Translational Medicine 2023 21:13
  47. Chagas disease is a neglected tropical disease in Latin America and an imported emerging disease worldwide. Chronic Chagas disease cardiomyopathy (CCC) is the most prominent clinical form and can lead to heart...

    Authors: Gregório Guilherme Almeida, Inga Rimkute, Isabela Natália Pascoal Campos do Vale, Thomas Liechti, Priscilla Miranda Henriques, Ester Roffe, Fernanda Fortes de Araújo, Manoel Otávio da Costa Rocha, Silvana Maria Elói Santos, Olindo Assis Martins-Filho, Dragana Jankovic, Alan Sher, Andrea Teixeira-Carvalho, Mario Roederer and Lis Ribeiro do Valle Antonelli
    Citation: Journal of Translational Medicine 2022 20:551

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