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Personalized medicine

Section edited by Jingxuan Shan

This section aims to provide a platform for research that will revolutionize patient care through the use of novel molecular predisposing screening, diagnostic, prognostic and pharmacogenomics. Advances in human genome research are opening the door to a new paradigm for practicing medicine that promises to transform healthcare. Personalized medicine will impact the way that medicine is practiced.

Featured articles

Pharmacogenetics driving personalized medicine: analysis of genetic polymorphisms related to breast cancer medications in Italian isolated populations
Massimiliano Cocca, et al

Anti-cytokine autoantibodies in postherpetic neuralgia
Ahmad Bayat, et al



Comprehensive molecular characterization of human adipocytes reveals a transient brown phenotype
Andrea Guennoun, et al

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  1. The intricate etiology of autoimmune liver disease (AILD) involves genetic, environmental, and other factors that yet to be completely elucidated. This study comprehensively assessed the causal association bet...

    Authors: Weize Gao, Chong Peng, Zhan Wang, Yongxin Li and Mingjun Liu
    Citation: Journal of Translational Medicine 2024 22:425
  2. Epidemiological evidence links a close correlation between long-term exposure to air pollutants and autoimmune diseases, while the causality remained unknown.

    Authors: Jie Wen, Jingwei Zhang, Hao Zhang, Nan Zhang, Ruoyan Lei, Yujia Deng, Quan Cheng, He Li and Peng Luo
    Citation: Journal of Translational Medicine 2024 22:392
  3. Integrating quantitative trait loci (QTL) data related to molecular phenotypes with genome-wide association study (GWAS) data is an important post-GWAS strategic approach employed to identify disease-associate...

    Authors: Lingxue Luo, Tao Pang, Haohao Zheng, Chao Liufu and Suhua Chang
    Citation: Journal of Translational Medicine 2024 22:387
  4. Early-onset prostate cancer (EOPC, ≤ 55 years) has a unique clinical entity harboring high genetic risk, but the majority of EOPC patients still substantial opportunity to be early-detected thus suffering an u...

    Authors: Yifei Cheng, Lang Wu, Junyi Xin, Shuai Ben, Silu Chen, Huiqin Li, Lingyan Zhao, Meilin Wang, Gong Cheng and Mulong Du
    Citation: Journal of Translational Medicine 2024 22:366
  5. Glaucoma is a leading cause of worldwide irreversible blindness. Considerable uncertainty remains regarding the association between a variety of phenotypes and the genetic risk of glaucoma, as well as the impa...

    Authors: Jae-Seung Yun, Sang-Hyuk Jung, Su-Nam Lee, Seung Min Jung, Hong-Hee Won, Dokyoon Kim and Jin A. Choi
    Citation: Journal of Translational Medicine 2024 22:355
  6. Chronic liver diseases constitute a major global public health burden, posing a substantial threat to patients’ daily lives and even survival due to the potential development of musculoskeletal disorders. Alth...

    Authors: Zhengjie Lu, Xuefei Li, Yongjian Qi, Bin Li and Liaobin Chen
    Citation: Journal of Translational Medicine 2024 22:138
  7. Breast cancer (BC) is a multifaceted disease characterized by distinct molecular subtypes and varying responses to treatment. In BC, the phosphatidylinositol 3-kinase (PI3K) pathway has emerged as a crucial co...

    Authors: Muhammad Tufail, Jia-Ju Hu, Jie Liang, Cai-Yun He, Wen-Dong Wan, Yu-Qi Huang, Can-Hua Jiang, Hong Wu and Ning Li
    Citation: Journal of Translational Medicine 2024 22:15
  8. Although the molecular features of pancreatic ductal adenocarcinoma (PDAC) have been well described, the impact of detailed gene mutation subtypes on disease progression remained unclear. This study aimed to e...

    Authors: Yiran Zhou, Jiabin Jin, Yuchen Ji, Jiaqiang Zhang, Ningzhen Fu, Mengmin Chen, Jun Wang, Kai Qin, Yu Jiang, Dongfeng Cheng, Xiaxing Deng and Baiyong Shen
    Citation: Journal of Translational Medicine 2023 21:872
  9. Stroke is a common neurological disorder that disproportionately affects middle-aged and elderly individuals, leading to significant disability and mortality. Recently, human blood metabolites have been discov...

    Authors: Tianlong Zhang, Yina Cao, Jianqiang Zhao, Jiali Yao and Gang Liu
    Citation: Journal of Translational Medicine 2023 21:822
  10. Nasopharyngeal carcinoma (NPC) is an aggressive malignancy with high propensity for lymphatic spread and distant metastasis. It is prominent as an endemic malignancy in Southern China and Southeast Asia region...

    Authors: Pui Yan Siak, Win Sen Heng, Sharon Siew Hoon Teoh, Yu Yu Lwin and Shiau-Chuen Cheah
    Citation: Journal of Translational Medicine 2023 21:786
  11. Lysosomes are closely linked to autophagic activity, which plays a vital role in pancreatic ductal adenocarcinoma (PDAC) biology. The survival of PDAC patients is still poor, and the identification of novel ge...

    Authors: Youngil Koh, Hyemin Kim, So Young Joo, Seulki Song, Young Hoon Choi, Hyung Rae Kim, Byul Moon, Jamin Byun, Junshik Hong, Dong-Yeop Shin, Solip Park, Kwang Hyuck Lee, Kyu Taek Lee, Jong Kyun Lee, Daechan Park, Se-Hoon Lee…
    Citation: Journal of Translational Medicine 2023 21:730
  12. The complex interplay between health, lifestyle and genetics represents a critical area of research for understanding and promoting human well-being. Importantly, genetics plays a key role in determining indiv...

    Authors: Benedetta Perrone, Paola Ruffo, Giuseppina Augimeri, Diego Sisci, Maria Stefania Sinicropi, Giovanni Tripepi, Corrado Mammì, Daniela Bonofiglio and Francesca Luisa Conforti
    Citation: Journal of Translational Medicine 2023 21:718
  13. ABCA4, the gene implicated in Stargardt disease (STGD1), contains 50 exons, of which 17 contain multiples of three nucleotides. The impact of in-frame exon skipping is yet to be determined. Antisense oligonucleot...

    Authors: Melita Kaltak, Rocio Blanco-Garavito, Laurie L. Molday, Claire-Marie Dhaenens, Eric E. Souied, Gerard Platenburg, Jim Swildens, Robert S. Molday and Frans P. M. Cremers
    Citation: Journal of Translational Medicine 2023 21:546
  14. The genetic risk of aggressive prostate cancer (PCa) is hard to be assessed due to the lack of aggressiveness-related single-nucleotide polymorphisms (SNPs). Prostate volume (PV) is a potential well-establishe...

    Authors: Xiaohao Ruan, Da Huang, Jingyi Huang, James Hok-Leung Tsu and Rong Na
    Citation: Journal of Translational Medicine 2023 21:446
  15. The pathogenesis of osteoporosis involves multiple factors, among which alterations in the bone microenvironment play a crucial role in disrupting normal bone metabolic balance. Transient receptor potential va...

    Authors: Zhi-heng Luo, Jian-xiong Ma, Wei Zhang, Ai-xian Tian, Shu-wei Gong, Yan Li, Yu-xiao Lai and Xin-long Ma
    Citation: Journal of Translational Medicine 2023 21:327
  16. Polymorphisms in microRNAs (miRNAs) play an important role in acute coronary syndromes (ACS). The purpose of this study was to assess the association of miR-146a rs2910164 and miR-34b rs4938723 polymorphisms w...

    Authors: Xiang-Rui Qiao, Tao Zheng, Yifei Xie, Xinyi yao, Zuyi Yuan, Yue Wu, Dong Zhou and Tao Chen
    Citation: Journal of Translational Medicine 2023 21:325
  17. Despite the wide variety of Next Generation Sequencing (NGS)-based methods, it remains challenging to detect mutations present at very low frequencies. This problem is particularly relevant in oncology, where ...

    Authors: Jonathan Bieler, Slawomir Kubik, Morgane Macheret, Christian Pozzorini, Adrian Willig and Zhenyu Xu
    Citation: Journal of Translational Medicine 2023 21:305
  18. Irritable bowel syndrome (IBS) is a chronic disorder of gut-brain interaction frequently accompanied by mental conditions, including depression and anxiety. Despite showing substantial heritability and being p...

    Authors: Silvia Alemany, María Soler-Artigas, Judit Cabana-Domínguez, Dana Fakhreddine, Natalia Llonga, Laura Vilar-Ribó, Amanda Rodríguez-Urrutia, Judit Palacio, Ana María González-Castro, Beatriz Lobo, Carmen Alonso-Cotoner, Magnus Simrén, Javier Santos, Josep Antoni Ramos-Quiroga and Marta Ribasés
    Citation: Journal of Translational Medicine 2023 21:272
  19. The incidence of pediatric inflammatory bowel disease (PIBD) has been steadily increasing globally. Delayed diagnosis of PIBD increases the risk of complications and contributes to growth retardation. To impro...

    Authors: Xixi Chen, Yuanqi Gao, Jinfang Xie, Huiying Hua, Chun Pan, Jiebin Huang, Mengxia Jing, Xuehua Chen, Chundi Xu, Yujing Gao and Pu Li
    Citation: Journal of Translational Medicine 2023 21:203
  20. Osteoporosis is highly polygenic and heritable, with heritability ranging from 50 to 80%; most inherited susceptibility is associated with the cumulative effect of many common genetic variants. However, existi...

    Authors: Qing Wu and Jongyun Jung
    Citation: Journal of Translational Medicine 2023 21:127
  21. Multiple system atrophy (MSA) is a heterogenous, uniformly fatal neurodegenerative ɑ-synucleinopathy. Patients present with varying degrees of dysautonomia, parkinsonism, cerebellar dysfunction, and corticospi...

    Authors: Fan Shuen Tseng, Joel Qi Xuan Foo, Aaron Shengting Mai and Eng-King Tan
    Citation: Journal of Translational Medicine 2023 21:104
  22. The popular statistics-based Genome-wide association studies (GWAS) have provided deep insights into the field of complex disorder genetics. However, its clinical applicability to predict disease/trait outcome...

    Authors: Ashley J. W. Lim, C. Tera Tyniana, Lee Jin Lim, Justina Wei Lynn Tan, Ee Tzun Koh, Samuel S. Chong, Chiea Chuen Khor, Khai Pang Leong and Caroline G. Lee
    Citation: Journal of Translational Medicine 2023 21:92
  23. Obesity is a major health concern for breast cancer survivors, being associated with high recurrence and reduced efficacy during cancer treatment. Metformin treatment is associated with reduced breast cancer i...

    Authors: Federica Bellerba, Anastasia Chrysovalantou Chatziioannou, Paniz Jasbi, Nivonirina Robinot, Pekka Keski-Rahkonen, Amarine Trolat, Béatrice Vozar, Sheri J. Hartman, Augustin Scalbert, Bernardo Bonanni, Harriet Johansson, Dorothy D. Sears and Sara Gandini
    Citation: Journal of Translational Medicine 2022 20:629
  24. Genome-wide association studies (GWAS) have identified some variants associated with subclinical atherosclerosis (SCA) in general population but lacking sufficient validation. Besides traditional risk factors,...

    Authors: Jiayu He, Haijiang Lin, Yingying Ding, Xing Liu, Kelin Xu, Xiaoxiao Chen, Weiwei Shen, Sujuan Zhou, Miaochen Wang, Jingjing Xia and Na He
    Citation: Journal of Translational Medicine 2022 20:609
  25. Ankylosing spondylitis (AS) is an autoimmune disease affecting mainly spine and sacroiliac joints and adjacent soft tissues. Genome-wide association studies (GWASs) are used to evaluate genetic associations an...

    Authors: Ching-Lung Ko, Wei-Zhi Lin, Meng-Ting Lee, Yu-Tien Chang, Hung-Che Lin, Yi-Syuan Wu, Jun-Fu Lin, Ke-Ting Pan, Yu-Chuan Chang, Ko-Han Lee, Yi-Lun Lee, Tsung-Ting Hsieh, Jia-Hsin Huang, Chih-Hung Wang, Sung-Sen Yang, Hsiang-Cheng Chen…
    Citation: Journal of Translational Medicine 2022 20:589
  26. Genetic risk factors for chemotherapy-induced peripheral neuropathy (CIPN), a major dose-limiting side-effect of paclitaxel, are not well understood.

    Authors: Kosar Hooshmand, David Goldstein, Hannah C. Timmins, Tiffany Li, Michelle Harrison, Michael L. Friedlander, Craig R. Lewis, Justin G. Lees, Gila Moalem-Taylor, Boris Guennewig, Susanna B. Park and John B. Kwok
    Citation: Journal of Translational Medicine 2022 20:564
  27. Pharmacogenomics (PGx) aims to utilize a patient’s genetic data to enable safer and more effective prescribing of medications. The Clinical Pharmacogenetics Implementation Consortium (CPIC) provides guidelines...

    Authors: Shefali S. Verma, Karl Keat, Binglan Li, Glenda Hoffecker, Marjorie Risman, Katrin Sangkuhl, Michelle Whirl-Carrillo, Scott Dudek, Anurag Verma, Teri E. Klein, Marylyn D. Ritchie and Sony Tuteja
    Citation: Journal of Translational Medicine 2022 20:550
  28. Previous studies on European (EUR) samples have obtained inconsistent results regarding the genetic correlation between type 2 diabetes mellitus (T2DM) and Schizophrenia (SCZ). A large-scale trans-ethnic genet...

    Authors: Lei Cai, Yanlan Sun, Yonglin Liu, Wenzhong Chen, Lin He and Dong-Qing Wei
    Citation: Journal of Translational Medicine 2022 20:501
  29. Homologous recombination deficiency (HRD) is closely associated with patient prognosis and treatment options in prostate cancer (PCa). However, there is a lack of quantitative indicators related to HRD to pred...

    Authors: Cong Luo, Zhi Liu, Yu Gan, Xiaomei Gao, Xiongbing Zu, Ye Zhang, Wenrui Ye and Yi Cai
    Citation: Journal of Translational Medicine 2022 20:313
  30. Comitant strabismus (CS) is a heterogeneous disorder that is a major contributing factor to unilateral childhood-onset visual impairment. Studies have confirmed that genetic factors play an important role in t...

    Authors: Yue Wang, Xuejuan Chen, Tao Jiang, Yayun Gu, Xiaohan Zhang, Wenwen Yuan, Andi Zhao, Rui Li, Zijin Wang, Zhibin Hu and Hu Liu
    Citation: Journal of Translational Medicine 2021 19:495
  31. Colorectal carcinoma (CRC) harboring oncogenic fusions has been reported to be highly enriched in mismatch repair deficient (dMMR) tumors with MLH1 hypermethylation (MLH1me+) and wild-type BRAF and RAS. In this s...

    Authors: Jing Wang, Ruiyu Li, Junjie Li, Yuting Yi, Xiaoding Liu, Jingci Chen, Hui Zhang, Junliang Lu, Cami Li, Huanwen Wu and Zhiyong Liang
    Citation: Journal of Translational Medicine 2021 19:433
  32. Integrating functional annotations into SNP-set association studies has been proven a powerful analysis strategy. Statistical methods for such integration have been developed for continuous and binary phenotyp...

    Authors: Haojie Lu, Yongyue Wei, Zhou Jiang, Jinhui Zhang, Ting Wang, Shuiping Huang and Ping Zeng
    Citation: Journal of Translational Medicine 2021 19:418
  33. Pancreatic ductal adenocarcinoma (PDAC) is a fatal disease with molecular heterogeneity, inducing differences in biological behavior, and therapeutic strategy. NGS profiles of pathogenic alterations in the Chi...

    Authors: Lin Shui, Xiaofen Li, Yang Peng, Jiangfang Tian, Shuangshuang Li, Du He, Ang Li, Bole Tian, Mao Li, Heli Gao, Ning An, Cheng Yi and Dan Cao
    Citation: Journal of Translational Medicine 2021 19:301

    The Correction to this article has been published in Journal of Translational Medicine 2021 19:345

  34. Infections are a major disease burden worldwide. While they are caused by external pathogens, host genetics also plays a part in susceptibility to infections. Past studies have reported diverse associations be...

    Authors: Ron Nudel, Rosa Lundbye Allesøe, Wesley K. Thompson, Thomas Werge, Simon Rasmussen and Michael E. Benros
    Citation: Journal of Translational Medicine 2021 19:230
  35. Type 1 diabetes affects millions of people globally and requires careful management to avoid serious long-term complications, including heart and kidney disease, stroke, and loss of sight. The type 1 diabetes ...

    Authors: Ammira Al-Shabeeb Akil, Esraa Yassin, Aljazi Al-Maraghi, Elbay Aliyev, Khulod Al-Malki and Khalid A. Fakhro
    Citation: Journal of Translational Medicine 2021 19:137
  36. The incidence of breast cancer (BC) and/or ovarian cancer (OC) is increasing in Tunisia especially in young women and mostly those with family history. However, the spectrum of BRCA mutations remains little explo...

    Authors: Dorra Ben Ayed-Guerfali, Wala Ben Kridis-Rejab, Nihel Ammous-Boukhris, Wajdi Ayadi, Slim Charfi, Afef Khanfir, Tahia Sellami-Boudawara, Mounir Frikha, Jamel Daoud and Raja Mokdad-Gargouri
    Citation: Journal of Translational Medicine 2021 19:108
  37. Hypertension (HTN), diabetes mellitus (DM), and dyslipidemia (DL) are well-known risk factors of cardiovascular disease (CVD), but not all patients develop CVDs. Studies have been limited investigating genetic...

    Authors: Youhyun Song, Ja-Eun Choi, Yu-Jin Kwon, Hyuk-Jae Chang, Jung Oh Kim, Da-Hyun Park, Jae-Min Park, Seong-Jin Kim, Ji Won Lee and Kyung-Won Hong
    Citation: Journal of Translational Medicine 2021 19:85
  38. Melanoma is the deadliest of skin cancers and has an increasing annual incidence worldwide. It is a multi-factorial disease most likely arising from both genetic predisposition and environmental exposure to ul...

    Authors: Clara Benna, Senthilkumar Rajendran, Giovanna Spiro, Chiara Menin, Luigi Dall’Olmo, Carlo Riccardo Rossi and Simone Mocellin
    Citation: Journal of Translational Medicine 2021 19:57
  39. Genome-wide association studies have identified thousands of disease-associated single nucleotide polymorphisms (SNPs). A subset of these SNPs may be additively combined to generate genetic risk scores (GRSs) ...

    Authors: Carly A. Conran, Zhuqing Shi, William Kyle Resurreccion, Rong Na, Brian T. Helfand, Elena Genova, Siqun Lilly Zheng, Charles B. Brendler and Jianfeng Xu
    Citation: Journal of Translational Medicine 2021 19:41
  40. Aberrant metabolism is the root cause of several serious health issues, creating a huge burden to health and leading to diminished life expectancy. A dysregulated metabolism induces the secretion of several mo...

    Authors: Murugan Subramanian, Anne Wojtusciszyn, Lucie Favre, Sabri Boughorbel, Jingxuan Shan, Khaled B. Letaief, Nelly Pitteloud and Lotfi Chouchane
    Citation: Journal of Translational Medicine 2020 18:472
  41. The outbreak of coronavirus disease (COVID-19) was caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), through its surface spike glycoprotein (S-protein) recognition on the receptor Angiote...

    Authors: Xingyi Guo, Zhishan Chen, Yumin Xia, Weiqiang Lin and Hongzhi Li
    Citation: Journal of Translational Medicine 2020 18:321
  42. Conotruncal defects (CTDs) are a type of heterogeneous congenital heart diseases (CHDs), but little is known about their etiology. Increasing evidence has demonstrated that fibroblast growth factor (FGF) 8 and...

    Authors: Shuang Zhou, Qingjie Wang, Zhuo Meng, Jiayu Peng, Yue Zhou, Wenting Song, Jian Wang, Sun Chen and Kun Sun
    Citation: Journal of Translational Medicine 2020 18:283
  43. In the context of our Regional Program of Hereditary Cancer, individuals fulfilling the criteria are tested for germline mutations to subsequently establish the clinical management. Our standard diagnostic app...

    Authors: Carolina Velázquez, Enrique Lastra, Francisco Avila Cobos, Luis Abella, Virginia de la Cruz, Blanca Ascensión Hernando, Lara Hernández, Noemí Martínez, Mar Infante and Mercedes Durán
    Citation: Journal of Translational Medicine 2020 18:232
  44. Radiation-induced oral mucositis (OM) is one of the most common acute complications for head and neck cancer. Severe OM is associated with radiation treatment breaks, which harms successful tumor management. R...

    Authors: Da-Wei Yang, Tong-Min Wang, Jiang-Bo Zhang, Xi-Zhao Li, Yong-Qiao He, Ruowen Xiao, Wen-Qiong Xue, Xiao-Hui Zheng, Pei-Fen Zhang, Shao-Dan Zhang, Ye-Zhu Hu, Guo-Ping Shen, Mingyuan Chen, Ying Sun and Wei-Hua Jia
    Citation: Journal of Translational Medicine 2020 18:224
  45. Malignant serous effusion (MSE) denotes a manifestation of metastatic disease with typical high concentrations of both cancer and immune cells, making them an ideal resource for in vitro cytologic studies. Hen...

    Authors: Cheng-Guang Wu, Francesca Chiovaro, Alessandra Curioni-Fontecedro, Ruben Casanova and Alex Soltermann
    Citation: Journal of Translational Medicine 2020 18:163

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