Disease biomarkers

Section edited by Xiangdong Wang

This 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.

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  1. Research

    24h-gene variation effect of combined bevacizumab/erlotinib in advanced non-squamous non-small cell lung cancer using exon array blood profiling

    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...

    Florent Baty, Markus Joerger, Martin Früh, Dirk Klingbiel, Francesco Zappa and Martin Brutsche

    Journal of Translational Medicine 2017 15:66

    Published on: 30 March 2017

  2. Research

    Epidermal growth factor receptor and epididymis invasion as prognostic biomarkers in clinical stage I testicular germ cell tumours

    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...

    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

    Journal of Translational Medicine 2017 15:62

    Published on: 20 March 2017

  3. Research

    Urinary collagen degradation products as early markers of progressive renal fibrosis

    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...

    Ryanne S. Hijmans, Daniel Guldager Kring Rasmussen, Saleh Yazdani, Gerjan Navis, Harry van Goor, Morten Asser Karsdal, Federica Genovese and Jacob van den Born

    Journal of Translational Medicine 2017 15:63

    Published on: 20 March 2017

  4. Research

    Activin B is a novel biomarker for chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME) diagnosis: a cross sectional study

    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...

    Brett A. Lidbury, Badia Kita, Donald P. Lewis, Susan Hayward, Helen Ludlow, Mark P. Hedger and David M. de Kretser

    Journal of Translational Medicine 2017 15:60

    Published on: 16 March 2017

  5. Research

    Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study

    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...

    Isabel De Castro-Orós, Pilar Irún, Jorge Javier Cebolla, Victor Rodriguez-Sureda, Miguel Mallén, María Jesús Pueyo, Pilar Mozas, Carmen Dominguez and Miguel Pocoví

    Journal of Translational Medicine 2017 15:43

    Published on: 21 February 2017

  6. Research

    Association of osteopontin with specific prognostic factors and survival in adjuvant breast cancer trials of the Hellenic Cooperative Oncology Group

    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...

    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…

    Journal of Translational Medicine 2017 15:30

    Published on: 13 February 2017

  7. Research

    Pyruvate kinase M2 and the mitochondrial ATPase Inhibitory Factor 1 provide novel biomarkers of dermatomyositis: a metabolic link to oncogenesis

    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.

    Fulvio Santacatterina, María Sánchez-Aragó, Marc Catalán-García, Glòria Garrabou, Cristina Nuñez de Arenas, Josep M. Grau, Francesc Cardellach and José M. Cuezva

    Journal of Translational Medicine 2017 15:29

    Published on: 10 February 2017

  8. Research

    Individualized analysis reveals CpG sites with methylation aberrations in almost all lung adenocarcinoma tissues

    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...

    Haidan Yan, Qingzhou Guan, Jun He, Yunqing Lin, Juan Zhang, Hongdong Li, Huaping Liu, Yunyan Gu, Zheng Guo and Fei He

    Journal of Translational Medicine 2017 15:26

    Published on: 8 February 2017

  9. Research

    Placental mitochondrial DNA and CYP1A1 gene methylation as molecular signatures for tobacco smoke exposure in pregnant women and the relevance for birth weight

    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...

    Bram G. Janssen, Wilfried Gyselaers, Hyang-Min Byun, Harry A. Roels, Ann Cuypers, Andrea A. Baccarelli and Tim S. Nawrot

    Journal of Translational Medicine 2017 15:5

    Published on: 4 January 2017

  10. Research

    Repressed SIRT1/PGC-1α pathway and mitochondrial disintegration in iPSC-derived RPE disease model of age-related macular degeneration

    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...

    Nady Golestaneh, Yi Chu, Shuk Kei Cheng, Hong Cao, Eugenia Poliakov and Daniel M. Berinstein

    Journal of Translational Medicine 2016 14:344

    Published on: 20 December 2016

  11. Commentary

    Association of mitochondrial DNA variants with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) symptoms

    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...

    Maureen R. Hanson, Zhenglong Gu, Alon Keinan, Kaixiong Ye, Arnaud Germain and Paul Billing-Ross

    Journal of Translational Medicine 2016 14:342

    Published on: 20 December 2016

  12. Research

    Immunological profiling of patients with ulcerative colitis leads to identification of two inflammatory conditions and CD1a as a disease marker

    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 ...

    M. Föhlinger, P. Palamides, U. Mansmann, F. Beigel, M. Siebeck and R. Gropp

    Journal of Translational Medicine 2016 14:310

    Published on: 3 November 2016

  13. Research

    Integrins β1 and β3 are biomarkers of uterine condition for embryo transfer

    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...

    Guowu Chen, Aijie Xin, Yulin Liu, Changgen Shi, Junling Chen, Xiaofeng Tang, Ying Chen, Min Yu, Xiandong Peng, Lu Li and Xiaoxi Sun

    Journal of Translational Medicine 2016 14:303

    Published on: 26 October 2016

  14. Meeting report

    Excerpts from the 1st international NTNU symposium on current and future clinical biomarkers of cancer: innovation and implementation, June 16th and 17th 2016, Trondheim, Norway

    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...

    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…

    Journal of Translational Medicine 2016 14:295

    Published on: 19 October 2016

  15. Research

    A multiplex urinary immunoassay for bladder cancer detection: analysis of a Japanese cohort

    Bladder cancer (BCa) is among the most commonly diagnosed malignancies worldwide, and due the high rate of post-operative disease recurrence, it is one of the most prevalent in many countries. The development ...

    Steve Goodison, Osamu Ogawa, Yoshiyuki Matsui, Takashi Kobayashi, Makito Miyake, Sayuri Ohnishi, Kiyohide Fujimoto, Yunfeng Dai, Yoshiko Shimizu, Kazue Tsukikawa, Hideki Furuya and Charles J. Rosser

    Journal of Translational Medicine 2016 14:287

    Published on: 7 October 2016

  16. Research

    Immunogenic FEAT protein circulates in the bloodstream of cancer patients

    FEAT is an intracellular protein that potently drives tumorigenesis in vivo. It is only weakly expressed in normal human tissues, including the testis. In contrast, FEAT is aberrantly upregulated in most human...

    Yan Li, Kyosuke Kobayashi, Marwa M. Mona, Chikako Satomi, Shinji Okano, Hiroyuki Inoue, Kenzaburo Tani and Atsushi Takahashi

    Journal of Translational Medicine 2016 14:275

    Published on: 22 September 2016

  17. Research

    Non-invasive detection of 2-hydroxyglutarate in IDH-mutated gliomas using two-dimensional localized correlation spectroscopy (2D L-COSY) at 7 Tesla

    Mutations in the isocitrate dehydrogenase enzyme are present in a majority of lower-grade gliomas and secondary glioblastomas. This mis-sense mutation results in the neomorphic reduction of isocitrate dehydrog...

    Gaurav Verma, Suyash Mohan, MacLean P. Nasrallah, Steven Brem, John Y. K. Lee, Sanjeev Chawla, Sumei Wang, Rajakumar Nagarajan, M. Albert Thomas and Harish Poptani

    Journal of Translational Medicine 2016 14:274

    Published on: 22 September 2016

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