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Disease Biomarkers

Section edited by Xiangdong Wang and Hao Fang

The Disease Biomarkers section aims to bridge the identification and validation of discovered gene or protein-based, network or dynamic network biomarkers with human diseases, patient phenotypes, or clinical applications, and accelerate the development of human disease-specific biomarkers for the early diagnosis, monitoring, evaluation, and prediction of diseases. Conditions including cancers, cardiovascular and metabolic diseases will be the focus of study. This section will promote the innovation and development of disease-specific biomarkers by integrating multidisciplinary aspects of science.

Studies considered for publication include those regarding the development of advanced biotechnologies for biomarker discovery and development, identifying biomarkers associated with the early detection of diseases, monitoring of disease severity and duration as well as patient responses to therapies, prediction of patient outcomes and the evaluation, regulation and ethics of disease biomarkers.

Featured articles

Microfluidic devices for neutrophil chemotaxis studies

Review | Wenjie Zhao et al

Plasma proteomic analysis of autoimmune hepatitis in an improved AIH mouse model

Research | Han Wang et al

Multi-omic serum biomarkers for prognosis of disease progression in prostate cancer

Research | Michael A. Kiebish et al

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  1. An extensive crosstalk co-regulates the Hippo and Wnt pathway. Preclinical studies revealed that the Hippo transducers YAP/TAZ mediate a number of oncogenic functions in gastric cancer (GC). Moreover, comprehe...

    Authors: Elisa Melucci, Beatrice Casini, Livia Ronchetti, Laura Pizzuti, Francesca Sperati, Matteo Pallocca, Francesca De Nicola, Frauke Goeman, Enzo Gallo, Carla Azzurra Amoreo, Domenico Sergi, Irene Terrenato, Patrizia Vici, Luigi Di Lauro, Maria Grazia Diodoro, Edoardo Pescarmona…
    Citation: Journal of Translational Medicine 2018 16:22
    Content type: Research Published on:

  2. Dental caries is a major worldwide oral disease afflicting a large proportion of children. As an important host factor of caries susceptibility, saliva plays a significant role in the occurrence and developmen...

    Authors: Kun Wang, Yufei Wang, Xiuqing Wang, Qian Ren, Sili Han, Longjiang Ding, Zhongcheng Li, Xuedong Zhou, Wei Li and Linglin Zhang
    Citation: Journal of Translational Medicine 2018 16:11
    Content type: Research Published on:

  3. Bladder cancer (BCa) is one of the most common cancers in the urinary system among the world. Previous studies suggested that TMEM40 expression level was significantly associated with clinicopathological param...

    Authors: Zhen-Fei Zhang, Han-Rong Zhang, Qing-Yan Zhang, Shu-Yu Lai, Yu-Zhen Feng, Yi Zhou, Si-Rong Zheng, Rong Shi and Jue-Yu Zhou
    Citation: Journal of Translational Medicine 2018 16:9
    Content type: Research Published on:

  4. To screen tumors with microsatellite instability (MSI) arising due to DNA mismatch repair deficiency (dMMR), a panel of five quasi-monomorphic mononucleotide-repeat markers amplified in a multiplex PCR (Pentap...

    Authors: Yuko Takehara, Takeshi Nagasaka, Akihiro Nyuya, Tomoko Haruma, Junko Haraga, Yoshiko Mori, Keiichiro Nakamura, Toshiyoshi Fujiwara, C. Richard Boland and Ajay Goel
    Citation: Journal of Translational Medicine 2018 16:5
    Content type: Research Published on:

  5. Plasma extracellular vesicles (EVs), especially exosome-like vesicles (ELVs), are being increasingly explored as a source of potential noninvasive disease biomarkers. The discovery of blood-based biomarkers as...

    Authors: Ruzena Stranska, Laurens Gysbrechts, Jens Wouters, Pieter Vermeersch, Katarzyna Bloch, Daan Dierickx, Graciela Andrei and Robert Snoeck
    Citation: Journal of Translational Medicine 2018 16:1
    Content type: Research Published on:

  6. In our previous study, we revealed that MEG3 was a tumor suppressor gene in retinoblastoma and inhibited proliferation of retinoblastoma cells by regulating the activity of the Wnt/β-catenin pathway. Here, we ...

    Authors: Yali Gao, Peng Huang and Jun Zhang
    Citation: Journal of Translational Medicine 2017 15:268
    Content type: Research Published on:

  7. Sepsis represents a complex disease with the dysregulated inflammatory response and high mortality rate. The goal of this study was to identify potential transcriptomic markers in developing pediatric sepsis b...

    Authors: Yiping Li, Yanhong Li, Zhenjiang Bai, Jian Pan, Jian Wang and Fang Fang
    Citation: Journal of Translational Medicine 2017 15:254
    Content type: Research Published on:

  8. Sprifermin (recombinant human fibroblast growth factor 18) is in clinical development as a potential disease-modifying osteoarthritis drug (DMOAD). In vitro studies have shown that cartilage regenerative prope...

    Authors: Ditte Reker, Cecilie F. Kjelgaard-Petersen, Anne Sofie Siebuhr, Martin Michaelis, Anne Gigout, Morten A. Karsdal, Christoph Ladel and Anne C. Bay-Jensen
    Citation: Journal of Translational Medicine 2017 15:250
    Content type: Research Published on:

  9. The role of single nucleotide polymorphisms (SNPs) associated with inflammatory bowel disease (IBD) is gaining interest. With the advent of novel therapies, personalized treatment in IBD is a future goal. We w...

    Authors: V. J. A. A. Nuij, M. P. Peppelenbosch, C. J. van der Woude and G. M. Fuhler
    Citation: Journal of Translational Medicine 2017 15:248
    Content type: Research Published on:

  10. Biomarkers of early plaque progression are still elusive. Myeloid DAP12-associating lectin-1 (MDL-1), also called CLEC5A, is a C-type lectin receptor implicated in the progression of multiple acute and chronic...

    Authors: Weixin Xiong, Haibo Wang, Lin Lu, Rui Xi, Fang Wang, Gang Gu and Rong Tao
    Citation: Journal of Translational Medicine 2017 15:234
    Content type: Research Published on:

  11. Developmental dysplasia of the hip (DDH) is a debilitating condition whose distinguishing signs include incomplete formation of the acetabulum leading to dislocation of the femur, accelerated wear of the artic...

    Authors: George Feldman, Arlene Offemaria, Hind Sawan, Javad Parvizi and Theresa A. Freeman
    Citation: Journal of Translational Medicine 2017 15:233
    Content type: Research Published on:

  12. Platelet autoantibody detection is critical for immune thrombocytopenia (ITP) diagnosis and prognosis. Therefore, we aimed to establish a quantitative flow cytometric immunobead assay (FCIA) for ITP platelet a...

    Authors: Juping Zhai, Mengyuan Ding, Tianjie Yang, Bin Zuo, Zhen Weng, Yunxiao Zhao, Jun He, Qingyu Wu, Changgeng Ruan and Yang He
    Citation: Journal of Translational Medicine 2017 15:214
    Content type: Research Published on:

  13. While the mortality rate is declining in the United States, the life expectancy gap among different population groups suggests a need to identify biomarkers to improve early identification of individuals at ri...

    Authors: Salman M. Tajuddin, Mike A. Nalls, Alan B. Zonderman and Michele K. Evans
    Citation: Journal of Translational Medicine 2017 15:208
    Content type: Research Published on:

  15. High expression of proviral integration site for Moloney murine leukemia virus-1 (PIM-1), a serine/threonine kinase, is associated with many cancers. The main purpose of this study were to investigate that the...

    Authors: Hui Cheng, Chongmei Huang, Xiaoqian Xu, Xiaoxia Hu, Shenglan Gong, Gusheng Tang, Xianmin Song, Weiping Zhang, Jianmin Wang, Li Chen and Jianmin Yang
    Citation: Journal of Translational Medicine 2017 15:179
    Content type: Research Published on:

  16. Speckle-type POZ protein (SPOP) is an E3 ubiquitin ligase adaptor protein that functions as a potential tumor suppressor, and SPOP mutations have been identified in ~10% of human prostate cancers. However, it ...

    Authors: Hui Wang, Christopher E. Barbieri, Jintang He, Yuqian Gao, Tujin Shi, Chaochao Wu, Athena A. Schepmoes, Thomas L. Fillmore, Sung-Suk Chae, Dennis Huang, Juan Miguel Mosquera, Wei-Jun Qian, Richard D. Smith, Sudhir Srivastava, Jacob Kagan, David G. Camp II…
    Citation: Journal of Translational Medicine 2017 15:175
    Content type: Research Published on:

  17. It is now recognized that asthma can present in different forms. Typically, asthma present with symptoms of wheeze, breathlessness and cough. Atypical forms of asthma such as cough variant asthma (CVA) or che...

    Authors: Chao Cao, Wen Li, Wen Hua, Fugui Yan, Hao Zhang, Huaqiong Huang, Yinghua Ying, Na Li, Fen Lan, Shaobin Wang, Xiao Chen, Jing Li, Jinkai Liu, Tianwen Lai, Zhengqiang Bao, Yuan Cao…
    Citation: Journal of Translational Medicine 2017 15:171
    Content type: Research Published on:

  18. Squamous cell carcinoma of the head and neck (HNSCC) represents an array of disease processes with a generally unfavorable prognosis. Inflammation plays an important role in tumor development and response to t...

    Authors: Whitney A. Sumner, William A. Stokes, Ayman Oweida, Kiersten L. Berggren, Jessica D. McDermott, David Raben, Diana Abbott, Bernard Jones, Gregory Gan and Sana D. Karam
    Citation: Journal of Translational Medicine 2017 15:168
    Content type: Research Published on:

  19. The purpose of this study was to explore gene copy number (GCN) variation of EGFR, HER2, c-MYC, and MET in patients with primary colorectal cancer (CRC).

    Authors: Yoonjin Kwak, Sumi Yun, Soo Kyung Nam, An Na Seo, Kyu Sang Lee, Eun Shin, Heung-Kwon Oh, Duck Woo Kim, Sung Bum Kang, Woo Ho Kim and Hye Seung Lee
    Citation: Journal of Translational Medicine 2017 15:167
    Content type: Research Published on:

  20. ETS2 is a downstream effector of the RAS/RAF/ERK pathway, which plays a critical role in the development of malignant tumor. However, the clinical impact of ETS2 expression in AML rema...

    Authors: Lin Fu, Huaping Fu, Qingyun Wu, Yifan Pang, Keman Xu, Lei Zhou, Jianlin Qiao, Xiaoyan Ke, Kailin Xu and Jinlong Shi
    Citation: Journal of Translational Medicine 2017 15:159
    Content type: Research Published on:

  21. Promoter methylation has emerged as a promising class of epigenetic biomarkers for diagnosis and prognosis of renal cell tumors (RCTs). Although differential gene promoter methylation patterns have been report...

    Authors: Ana Sílvia Pires-Luís, Pedro Costa-Pinheiro, Maria João Ferreira, Luís Antunes, Francisco Lobo, Jorge Oliveira, Rui Henrique and Carmen Jerónimo
    Citation: Journal of Translational Medicine 2017 15:149
    Content type: Research Published on:

  22. Influenza challenge trials are important for vaccine efficacy testing. Currently, disease severity is determined by self-reported scores to a list of symptoms which can be highly subjective. A more objective m...

    Authors: Julius Muller, Eneida Parizotto, Richard Antrobus, James Francis, Campbell Bunce, Amanda Stranks, Marshall Nichols, Micah McClain, Adrian V. S. Hill, Adaikalavan Ramasamy and Sarah C. Gilbert
    Citation: Journal of Translational Medicine 2017 15:134
    Content type: Research Published on:

  23. Oral lichen planus (OLP) is a T cell-mediated autoimmune disease. The aetiology and molecular mechanisms of OLP remain unclear. Human cytomegalovirus (HCMV) infection is a causal factor in the development of v...

    Authors: Meng Ding, Xiang Wang, Cheng Wang, Xiaoshuang Liu, Ke Zen, Wenmei Wang, Chen-Yu Zhang and Chunni Zhang
    Citation: Journal of Translational Medicine 2017 15:133
    Content type: Research Published on:

  24. The medication-related osteonecrosis of the jaw secondary to bisphosphonate therapy [MRONJ (BP)] is characterized by non-healing exposed bone in the maxillofacial region. The pathogenesis of MRONJ (BP) is not ...

    Authors: Christian Gross, Manuel Weber, Kay Creutzburg, Patrick Möbius, Raimund Preidl, Kerstin Amann and Falk Wehrhan
    Citation: Journal of Translational Medicine 2017 15:128
    Content type: Research Published on:

  25. Discriminating between autoimmune pancreatitis (AIP), chronic pancreatitis (CP), and pancreatic ductal adenocarcinoma (PDAC) can be challenging. In this retrospective study, levels of serum and tissue cytokine...

    Authors: Sahar Ghassem-Zadeh, Matthias M. Gaida, Szilard Szanyi, Hans Acha-Orbea, Jean-Louis Frossard, Ulf Hinz, Thilo Hackert, Oliver Strobel and Klaus Felix
    Citation: Journal of Translational Medicine 2017 15:126
    Content type: Research Published on:

  26. Currently, several assays can diagnose acute dengue infection. However, none of these assays can predict the severity of the disease. Biomarkers that predicts the likelihood that a dengue patient will develop ...

    Authors: Yean K. Yong, Hong Y. Tan, Soe Hui Jen, Esaki M. Shankar, Santha K. Natkunam, Jameela Sathar, Rishya Manikam and Shamala D. Sekaran
    Citation: Journal of Translational Medicine 2017 15:121
    Content type: Research Published on:

  27. Genotoxicity refers to the ability of harmful substances to damage genetic information in cells. Being exposed to chemical and biological agents can result in genomic instabilities and/or epigenetic alteration...

    Authors: Ning Ren, Manar Atyah, Wan-Yong Chen and Chen-Hao Zhou
    Citation: Journal of Translational Medicine 2017 15:110
    Content type: Review Published on:

  28. The assessment of fibrosis and inflammatory activity is essential to identify patients with non-alcoholic fatty liver disease (NAFLD) at risk for progressive disease. Serum markers and ultrasound-based methods...

    Authors: Thomas Karlas, Lara Weise, Stephanie Kuhn, Felix Krenzien, Matthias Mehdorn, David Petroff, Nicolas Linder, Alexander Schaudinn, Harald Busse, Volker Keim, Johann Pratschke, Johannes Wiegand, Katrin Splith and Moritz Schmelzle
    Citation: Journal of Translational Medicine 2017 15:106
    Content type: Research Published on:

  29. Tuberculosis (TB) remains a significant global health concern and its diagnosis is challenging due to the limitations in the specificity and sensitivity of the current diagnostic tests. Exosomes are bioactive ...

    Authors: Shamila D. Alipoor, Esmaeil Mortaz, Payam Tabarsi, Parissa Farnia, Mehdi Mirsaeidi, Johan Garssen, Masoud Movassaghi and Ian M. Adcock
    Citation: Journal of Translational Medicine 2017 15:105
    Content type: Research Published on:

  30. Large numbers of CD8+ T cells were observed in atopic dermatitis (AD) skin, and monocytes from AD patients showed increased prostaglandin E2 production. However, little is known about the expression of substance ...

    Authors: Zenan Zhang, Wenjiao Zheng, Hua Xie, Ruonan Chai, Junling Wang, Huiyun Zhang and Shaoheng He
    Citation: Journal of Translational Medicine 2017 15:93
    Content type: Research Published on:

  31. Apoptosis plays an important role in the myocardial loss after acute myocardial infarction and participates in the process of subsequent left ventricular remodeling and development of symptomatic heart failure...

    Authors: Elena Teringova and Petr Tousek
    Citation: Journal of Translational Medicine 2017 15:87
    Content type: Review Published on:

  32. In previous work, we showed that serum-free amino acid (SFAA) profiles were different between kidney cancer patients and age and sex matched controls. The goals of the current study are to: (1) confirm our ini...

    Authors: Hyung-Ok Lee, Robert G. Uzzo, Debra Kister and Warren D. Kruger
    Citation: Journal of Translational Medicine 2017 15:72
    Content type: Research Published on:

  33. Previous studies have suggested PITX2, KCNN3 and ZFHX3 as atrial fibrillation (AF) susceptibility genes. Single common genetic polymorphisms of those genes have been linked with AF phenotypes and rhythm outcome o...

    Authors: Daniela Husser, Petra Büttner, Laura Ueberham, Borislav Dinov, Philipp Sommer, Arash Arya, Gerhard Hindricks and Andreas Bollmann
    Citation: Journal of Translational Medicine 2017 15:71
    Content type: Research Published on:

  34. A normal number of T-cell receptor excision circles (TRECs) and K-deleting recombination excision circles (KRECs) is considered a biomarker for adequate new T- and B-cell production. In newborns, detection of ...

    Authors: Marion Vaglio Tessitore, Alessandra Sottini, Aldo M. Roccaro, Claudia Ghidini, Simona Bernardi, Giovanni Martellosio, Federico Serana and Luisa Imberti
    Citation: Journal of Translational Medicine 2017 15:70
    Content type: Research Published on:

  35. The SAKK 19/05 trial investigated the safety and efficacy of the combined targeted therapy bevacizumab and erlotinib (BE) in unselected patients with advanced non-squamous non-small cell lung cancer (NSCLC). A...

    Authors: Florent Baty, Markus Joerger, Martin Früh, Dirk Klingbiel, Francesco Zappa and Martin Brutsche
    Citation: Journal of Translational Medicine 2017 15:66
    Content type: Research Published on:

  36. Lung cancer is the leading cause of cancer-related morbidity and mortality worldwide. Patients with chronic respiratory diseases, such as chronic obstructive pulmonary disease (COPD), are exposed to a higher r...

    Authors: Hai-xing Zhu, Lin Shi, Yong Zhang, Yi-chun Zhu, Chun-xue Bai, Xiang-dong Wang and Jie-bai Zhou
    Citation: Journal of Translational Medicine 2017 15:65
    Content type: Research Published on:

  37. Renal fibrogenesis is associated with increased ECM remodeling and release of collagen fragments in urine in progressive renal disease. We investigated the diagnostic value of urinary collagen degradation prod...

    Authors: Ryanne S. Hijmans, Daniel Guldager Kring Rasmussen, Saleh Yazdani, Gerjan Navis, Harry van Goor, Morten Asser Karsdal, Federica Genovese and Jacob van den Born
    Citation: Journal of Translational Medicine 2017 15:63
    Content type: Research Published on:

  38. Inguinal orchiectomy is curative in 70–80% of clinical stage I testicular germ cell tumours (CS I TGCT). The identification of patients who are at low risk of relapse is critical to avoid unnecessary treatment...

    Authors: Miguel F. Sanmamed, E. Esteban, E. Uriol, R. Zarate, M. Capelan, C. Muriel, G. Crespo, J. P. Berros, P. Pardo-Coto, Q. Perez, C. Alvarez-Fernández, P. Jiménez Fonseca, M. Luque and A. Astudillo
    Citation: Journal of Translational Medicine 2017 15:62
    Content type: Research Published on:

  39. Investigations of activin family proteins as serum biomarkers for chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME). CFS/ME is a disease with complex, wide-ranging symptoms, featuring persistent fati...

    Authors: Brett A. Lidbury, Badia Kita, Donald P. Lewis, Susan Hayward, Helen Ludlow, Mark P. Hedger and David M. de Kretser
    Citation: Journal of Translational Medicine 2017 15:60
    Content type: Research Published on:

  40. Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes. The diagnosis of NP-C remains challenging due to the non-specif...

    Authors: Isabel De Castro-Orós, Pilar Irún, Jorge Javier Cebolla, Victor Rodriguez-Sureda, Miguel Mallén, María Jesús Pueyo, Pilar Mozas, Carmen Dominguez and Miguel Pocoví
    Citation: Journal of Translational Medicine 2017 15:43
    Content type: Research Published on:

  41. The shift towards an earlier diagnosis of breast cancer (BC) highlights the need for biomarkers that would identify patients at risk for relapse and metastatic spread and indicate the potential value of additi...

    Authors: Amanda Psyrri, Konstantine T. Kalogeras, Ralph M. Wirtz, George Kouvatseas, Georgia Karayannopoulou, Anna Goussia, Flora Zagouri, Elke Veltrup, Eleni Timotheadou, Helen Gogas, Angelos Koutras, Georgios Lazaridis, Christos Christodoulou, George Pentheroudakis, Panagiota Economopoulou, Apostolos Laskarakis…
    Citation: Journal of Translational Medicine 2017 15:30
    Content type: Research Published on:

  42. Metabolic alterations play a role in the development of inflammatory myopathies (IMs). Herein, we have investigated through a multiplex assay whether proteins of energy metabolism could provide biomarkers of IMs.

    Authors: Fulvio Santacatterina, María Sánchez-Aragó, Marc Catalán-García, Glòria Garrabou, Cristina Nuñez de Arenas, Josep M. Grau, Francesc Cardellach and José M. Cuezva
    Citation: Journal of Translational Medicine 2017 15:29
    Content type: Research Published on:

  43. Due to the heterogeneity of cancer, identifying differentially methylated (DM) CpG sites between a set of cancer samples and a set of normal samples cannot tell us which patients have methylation aberrations i...

    Authors: Haidan Yan, Qingzhou Guan, Jun He, Yunqing Lin, Juan Zhang, Hongdong Li, Huaping Liu, Yunyan Gu, Zheng Guo and Fei He
    Citation: Journal of Translational Medicine 2017 15:26
    Content type: Research Published on:

  44. Maternal smoking during pregnancy results in an increased risk of low birth weight through perturbations in the utero-placental exchange. Epigenetics and mitochondrial function in fetal tissues might be molecular...

    Authors: Bram G. Janssen, Wilfried Gyselaers, Hyang-Min Byun, Harry A. Roels, Ann Cuypers, Andrea A. Baccarelli and Tim S. Nawrot
    Citation: Journal of Translational Medicine 2017 15:5
    Content type: Research Published on:

  45. Study of age related macular degeneration (AMD) has been hampered by lack of human models that represent the complexity of the disease. Here we have developed a human in vitro disease model of AMD to investiga...

    Authors: Nady Golestaneh, Yi Chu, Shuk Kei Cheng, Hong Cao, Eugenia Poliakov and Daniel M. Berinstein
    Citation: Journal of Translational Medicine 2016 14:344
    Content type: Research Published on:

  46. Earlier this year, we described an analysis of mitochondrial DNA (mtDNA) variants in myalgic encephalomyelitis (ME)/chronic fatigue syndrome (CFS) patients and healthy controls. We reported that there was no s...

    Authors: Maureen R. Hanson, Zhenglong Gu, Alon Keinan, Kaixiong Ye, Arnaud Germain and Paul Billing-Ross
    Citation: Journal of Translational Medicine 2016 14:342
    Content type: Commentary Published on:

  47. Conventional approaches to understand mechanisms underlying the development of pathological manifestations in ulcerative colitis (UC) mostly rely on identification of certain cell types and cytokines followed ...

    Authors: M. Föhlinger, P. Palamides, U. Mansmann, F. Beigel, M. Siebeck and R. Gropp
    Citation: Journal of Translational Medicine 2016 14:310
    Content type: Research Published on:

  48. Clinical ovulation induction induces blood estrogen (E2) in excess of physiological levels, which can hinder uterine receptivity. In contrast, progesterone produces the opposite clinical effect, suggesting that i...

    Authors: Guowu Chen, Aijie Xin, Yulin Liu, Changgen Shi, Junling Chen, Xiaofeng Tang, Ying Chen, Min Yu, Xiandong Peng, Lu Li and Xiaoxi Sun
    Citation: Journal of Translational Medicine 2016 14:303
    Content type: Research Published on:

  50. The goal of biomarker research is to identify clinically valid markers. Despite decades of research there has been disappointingly few molecules or techniques that are in use today. The “1st International NTNU...

    Authors: Ana I. Robles, Karina Standahl Olsen, Dana W.T. Tsui, Vassilis Georgoulias, Jenette Creaney, Katalin Dobra, Mogens Vyberg, Nagahiro Minato, Robert A. Anders, Anne-Lise Børresen-Dale, Jianwei Zhou, Pål Sætrom, Boye Schnack Nielsen, Michaela B. Kirschner, Hans E. Krokan, Vassiliki Papadimitrakopoulou…
    Citation: Journal of Translational Medicine 2016 14:295
    Content type: Meeting report Published on:
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