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Personalized medicine

Section edited by Lotfi Chouchane

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.

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  1. Content type: Research

    Dysfunction of the circadian clock and polymorphisms of some circadian genes have been linked to cancer development and progression. We investigated the relationship between circadian genes germline variation ...

    Authors: Clara Benna, Senthilkumar Rajendran, Giovanna Spiro, Saveria Tropea, Paolo Del Fiore, Carlo Riccardo Rossi and Simone Mocellin

    Citation: Journal of Translational Medicine 2018 16:338

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  2. Content type: Commentary

    The International Federation of Pigment Cell Societies (IFPCS) held its XXIII triennial International Pigment Cell Conference (IPCC) in Denver, Colorado in August 2017. The goal of the summit was to provide a ...

    Authors: Neil F. Box, Lionel Larue, Prashiela Manga, Lluis Montoliu, Richard A. Spritz and Fabian V. Filipp

    Citation: Journal of Translational Medicine 2018 16:252

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  3. Content type: Research

    Acute myeloid leukemia (AML) is a highly heterogeneous disease. MicroRNAs function as important biomarkers in the clinical prognosis of AML.

    Authors: Chen Yang, Tingting Shao, Huihui Zhang, Ninghan Zhang, Xiaoying Shi, Xuejiao Liu, Yao Yao, Linyan Xu, Shengyun Zhu, Jiang Cao, Hai Cheng, Zhiling Yan, Zhenyu Li, Mingshan Niu and Kailin Xu

    Citation: Journal of Translational Medicine 2018 16:267

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  4. Content type: Research

    Enteroviral cardiomyopathy is a life-threatening disease, and detection of enterovirus (EV) RNA in the initial endomyocardial biopsy is associated with adverse prognosis and increased mortality. Some patients ...

    Authors: Dirk Lassner, Christine S. Siegismund, Uwe Kühl, Maria Rohde, Andrea Stroux, Felicitas Escher and Heinz-Peter Schultheiss

    Citation: Journal of Translational Medicine 2018 16:249

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  5. Content type: Commentary

    Although precision medicine has made advances in individualized patient treatments, there needs to be continued attention on tailored population health and prevention strategies (often termed “precision popula...

    Authors: Courtney R. Lyles, Mitchell R. Lunn, Juno Obedin-Maliver and Kirsten Bibbins-Domingo

    Citation: Journal of Translational Medicine 2018 16:211

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  6. Content type: Research

    UDP-glucuronosyltransferase 1A subfamily (UGT1A) enzymes can inactivate cytarabine (Ara-C) by glucuronidation, and thus serves as candidate genes for interindividual difference in Ara-C response. UGT1A1 is a m...

    Authors: Peng Chen, Ke-Wei Zhu, Dao-Yu Zhang, Han Yan, Han Liu, Yan-Ling Liu, Shan Cao, Gan Zhou, Hui Zeng, Shu-Ping Chen, Xie-Lan Zhao, Jing Yang and Xiao-Ping Chen

    Citation: Journal of Translational Medicine 2018 16:197

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  7. Content type: Review

    Germline mutations in the BRCA-1 associated tumor protein 1 (BAP1) increase susceptibility to mesothelioma and other cancers. We describe a patient with a family history of peritoneal mesothelioma, who develop...

    Authors: Muaiad Kittaneh and Charles Berkelhammer

    Citation: Journal of Translational Medicine 2018 16:194

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  8. Content type: Research

    Approximately 30% of rheumatoid arthritis (RA) patients treated with Tripterysium glycosides (TG) tablets fail to achieve clinical improvement, implying the essentiality of predictive biomarkers and tools. Her...

    Authors: Yanqiong Zhang, Hailong Wang, Xia Mao, Qiuyan Guo, Weijie Li, Xiaoyue Wang, Guangyao Li and Na Lin

    Citation: Journal of Translational Medicine 2018 16:187

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  9. Content type: Research

    Carcinoma of unknown primary (CUP) is a metastatic epithelial malignancy in the absence of an identifiable primary tumour. Prognosis for patients with CUP is poor because treatment options are generally limite...

    Authors: B. Clynick, B. Dessauvagie, G. Sterrett, N. T. Harvey, R. J. N. Allcock, C. Saunders, W. Erber and K. Meehan

    Citation: Journal of Translational Medicine 2018 16:185

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  10. Content type: Research

    A family history of breast cancer has long been thought to indicate the presence of inherited genetic events that predispose to this disease. In North Africa, many specific epidemio-genetic characteristics hav...

    Authors: Yosr Hamdi, Maroua Boujemaa, Mariem Ben Rekaya, Cherif Ben Hamda, Najah Mighri, Houda El Benna, Nesrine Mejri, Soumaya Labidi, Nouha Daoud, Chokri Naouali, Olfa Messaoud, Mariem Chargui, Kais Ghedira, Mohamed Samir Boubaker, Ridha Mrad, Hamouda Boussen…

    Citation: Journal of Translational Medicine 2018 16:158

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  11. Content type: Commentary

    The biobanks, providers of biospecimens, and the scientists, users of biological material, are both strategic actors in translational medicine but the communication about those two subjects seems to be delicat...

    Authors: Angelo Virgilio Paradiso, Maria Grazia Daidone, Vincenzo Canzonieri and Alfredo Zito

    Citation: Journal of Translational Medicine 2018 16:136

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  12. Content type: Research

    Actual European pathological classification of early-stage endometrial cancer (EC) may show insufficient accuracy to precisely stratify recurrence risk, leading to potential over or under treatment. Micro-RNAs...

    Authors: Tiphaine de Foucher, Maria Sbeih, Jenifer Uzan, Sofiane Bendifallah, Marine Lefevre, Nathalie Chabbert-Buffet, Selim Aractingi, Catherine Uzan, Issam Abd Alsalam, Rana Mitri, Romain H. Fontaine, Emile Daraï, Bassam Haddad, Céline Méhats, Marcos Ballester, Geoffroy Canlorbe…

    Citation: Journal of Translational Medicine 2018 16:131

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  13. Content type: Research

    MicroRNAs (miRNAs) play an important role in cancer biology. Neoadjuvant radiochemotherapy followed by surgery is a standard treatment for locally advanced esophageal squamous cell carcinoma (ESCC). However, a...

    Authors: Julia Slotta-Huspenina, Enken Drecoll, Marcus Feith, Daniel Habermehl, Stephanie Combs, Wilko Weichert, Marcus Bettstetter, Karen Becker and Rupert Langer

    Citation: Journal of Translational Medicine 2018 16:109

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    The Correction to this article has been published in Journal of Translational Medicine 2018 16:128

  14. Content type: Research

    The CYP2C19 nonfunctional genotype reduces clopidogrel effectiveness after percutaneous coronary intervention (PCI). Following clinical implementation of CYP2C19 genotyping at University Florida (UF) Health Shand...

    Authors: Larisa H. Cavallari, Francesco Franchi, Fabiana Rollini, Latonya Been, Andrea Rivas, Malhar Agarwal, D. Max Smith, Kimberly Newsom, Yan Gong, Amanda R. Elsey, Petr Starostik, Julie A. Johnson and Dominick J. Angiolillo

    Citation: Journal of Translational Medicine 2018 16:92

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  15. Content type: Research

    Cytarabine arabinoside (Ara-C) has been the core of chemotherapy for adult acute myeloid leukemia (AML). Ara-C undergoes a three-step phosphorylation into the active metabolite Ara-C triphosphosphate (ara-CTP)...

    Authors: Ke-Wei Zhu, Peng Chen, Dao-Yu Zhang, Han Yan, Han Liu, Li-Na Cen, Yan-Ling Liu, Shan Cao, Gan Zhou, Hui Zeng, Shu-Ping Chen, Xie-Lan Zhao and Xiao-Ping Chen

    Citation: Journal of Translational Medicine 2018 16:90

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  16. Content type: Research

    Primary pulmonary enteric adenocarcinoma (PEAC) is an extremely rare variant of invasive lung cancer. It is highly heterogeneous while shares some common morphologic and immunohistochemical features with usual...

    Authors: Ming Chen, Pu Liu, Feifei Yan, Suzhen Xu, Qi Jiang, Jingying Pan, Mengye He and Peng Shen

    Citation: Journal of Translational Medicine 2018 16:81

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  17. Content type: Research

    Breast cancer is one of the most frequent malignancies and the second leading cause of cancer-related mortality in women. MicroRNAs play a key role in breast cancer development and progression. microRNA(miR)-8...

    Authors: Yujing Gao, Hongning Ma, Chanchan Gao, Ye Lv, XueHua Chen, Rongrong Xu, Miao Sun, Xinrui Liu, Xiaohong Lu, Xiuying Pei and Pu Li

    Citation: Journal of Translational Medicine 2018 16:38

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  18. Content type: Review

    While the promise of the Human Genome Project provided significant insights into the structure of the human genome, the complexities of disease at the individual level have made it difficult to utilize –omic i...

    Authors: Patrick J. Silva, Valerie M. Schaibley and Kenneth S. Ramos

    Citation: Journal of Translational Medicine 2018 16:28

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  19. Content type: Research

    Breast cancer brain metastases (BCBM) develop in about 20–30% of breast cancer (BC) patients. BCBM are associated with dismal prognosis not at least due to lack of valuable molecular therapeutic targets. The a...

    Authors: Hans-Juergen Schulten, Mohammed Bangash, Sajjad Karim, Ashraf Dallol, Deema Hussein, Adnan Merdad, Fatma K. Al-Thoubaity, Jaudah Al-Maghrabi, Awatif Jamal, Fahad Al-Ghamdi, Hani Choudhry, Saleh S. Baeesa, Adeel G. Chaudhary and Mohammed H. Al-Qahtani

    Citation: Journal of Translational Medicine 2017 15:269

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  20. Content type: Review

    Since the establishment of the Sanger sequencing method, scientists around the world focused their efforts to progress in the field to produce the utmost technology. The introduction of next-generation sequenc...

    Authors: Filippo Del Vecchio, Valentina Mastroiaco, Antinisca Di Marco, Chiara Compagnoni, Daria Capece, Francesca Zazzeroni, Carlo Capalbo, Edoardo Alesse and Alessandra Tessitore

    Citation: Journal of Translational Medicine 2017 15:246

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  21. Content type: Research

    To evaluate the diagnostic value of 68Ga-PSMA-11 PET-CT with multiparametric magnetic resonance imaging (mpMRI) for lymph node (LN) staging in patients with intermediate- to high-risk prostate cancer (PCa) underg...

    Authors: Qing Zhang, Shiming Zang, Chengwei Zhang, Yao Fu, Xiaoyu Lv, Qinglei Zhang, Yongming Deng, Chuan Zhang, Rui Luo, Xiaozhi Zhao, Wei Wang, Feng Wang and Hongqian Guo

    Citation: Journal of Translational Medicine 2017 15:230

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  22. Content type: Research

    Exercise of patients with intermittent claudication improves walking performance. Exercise does not usually increase blood flow, but seems to increase muscle mitochondrial enzyme activities. Although exercise ...

    Authors: Michel van Schaardenburgh, Martin Wohlwend, Øivind Rognmo and Erney J. R. Mattsson

    Citation: Journal of Translational Medicine 2017 15:130

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  23. Content type: Research

    Genetic analysis of advanced cancer is limited by availability of representative tissue. Biopsies of prostate cancer metastasized to bone are invasive with low quantity of tumor tissue. The prostate cancer gen...

    Authors: Justin Lack, Marc Gillard, Maggie Cam, Gladell P. Paner and David J. VanderWeele

    Citation: Journal of Translational Medicine 2017 15:44

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  24. Content type: Research

    Glioblastoma multiforme (GBM) is the most common and lethal brain tumor in adults, highlighting the need for novel treatment strategies. Patient derived xenografts (PDX) represent a valuable tool to accomplish...

    Authors: Doreen William, Christina Susanne Mullins, Björn Schneider, Andrea Orthmann, Nora Lamp, Mathias Krohn, Annika Hoffmann, Carl-Friedrich Classen and Michael Linnebacher

    Citation: Journal of Translational Medicine 2017 15:27

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  25. Content type: Research

    There is lack of evidence about systemic treatment of pseudomyxoma peritonei (PMP) relapsing after cytoreductive surgery and hyperthermic intraperitoneal chemotherapy. There is also lack of biomarkers able to ...

    Authors: Filippo Pietrantonio, Rosa Berenato, Claudia Maggi, Marta Caporale, Massimo Milione, Federica Perrone, Elena Tamborini, Dario Baratti, Shigeki Kusamura, Luigi Mariani, Monica Niger, Alessia Mennitto, Annunziata Gloghini, Ilaria Bossi, Giulio Settanni, Adele Busico…

    Citation: Journal of Translational Medicine 2016 14:125

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  26. Content type: Research

    Colorectal cancer (CRC) is a heterogeneous disease with different molecular characteristics associated with many variables such as the sites from which the tumors originate or the presence or absence of chromo...

    Authors: Ashraf Dallol, Abdelbaset Buhmeida, Mahmoud Shaheen Al-Ahwal, Jaudah Al-Maghrabi, Osama Bajouh, Shadi Al-Khayyat, Rania Alam, Atlal Abusanad, Rola Turki, Aisha Elaimi, Hani A. Alhadrami, Mohammed Abuzenadah, Huda Banni, Mohammed H. Al-Qahtani and Adel M. Abuzenadah

    Citation: Journal of Translational Medicine 2016 14:118

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  27. Content type: Research

    Targeted anti-HER2 therapy has greatly improved the prognosis for many breast cancer patients. However, treatment for HER2 negative disease is currently still selected from a multitude of untargeted chemothera...

    Authors: Kathrin Halfter, Oliver Hoffmann, Nina Ditsch, Mareike Ahne, Frank Arnold, Stefan Paepke, Dieter Grab, Ingo Bauerfeind and Barbara Mayer

    Citation: Journal of Translational Medicine 2016 14:112

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  28. Content type: Meeting report

    The 6th Pan Arab Human Genetics Conference (PAHGC), “Genetics of Multifactorial Disorders” was organized by the Center for Arab Genomic Studies (http://​www.​cags.​org.​ae

    Authors: Pratibha Nair, Sami Bizzari, Nirmal Rajah, Nada Assaf, Mahmoud Taleb Al-Ali and Abdul Rezzak Hamzeh

    Citation: Journal of Translational Medicine 2016 14:96

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  29. Content type: Research

    Breast cancer is the most common cancer in women characterized by a high variable clinical outcome among individuals treated with equivalent regimens and novel targeted therapies. In this study, we performed a...

    Authors: Massimiliano Cocca, Davide Bedognetti, Martina La Bianca, Paolo Gasparini and Giorgia Girotto

    Citation: Journal of Translational Medicine 2016 14:22

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  30. Content type: Research

    The mechanisms by which varicella zoster virus (VZV) reactivation causes postherpetic neuralgia (PHN), a debilitating chronic pain condition, have not been fully elucidated. Based on previous studies identifyi...

    Authors: Ahmad Bayat, Peter D. Burbelo, Sarah K. Browne, Mark Quinlivan, Bianca Martinez, Steven M. Holland, Asokumar Buvanendran, Jeffrey S. Kroin, Andrew J. Mannes, Judith Breuer, Jeffrey I. Cohen and Michael J. Iadarola

    Citation: Journal of Translational Medicine 2015 13:333

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  31. Content type: Research

    Treatment with TNF inhibitors is very efficient in the majority of the patients with rheumatoid arthritis (RA), but it does not achieve a sufficient treatment response in 40–50% of the cases. Goal of the study...

    Authors: Undine Meusch, Marco Krasselt, Manuela Rossol, Christoph Baerwald, Maria Klingner and Ulf Wagner

    Citation: Journal of Translational Medicine 2015 13:256

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  32. Content type: Research

    Personalized chemotherapy based on predictive biomarkers can maximize efficacy. However, tumor tissue obtained at the time of initial diagnosis will not reflect genetic alterations observed at the time of dise...

    Authors: Jie Shen, Jia Wei, Wenxian Guan, Hao Wang, Yitao Ding, Xiaoping Qian, Lixia Yu, Zhengyun Zou, Li Xie, Carlota Costa, Trever Bivona, Rafael Rosell and Baorui Liu

    Citation: Journal of Translational Medicine 2014 12:355

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  33. Content type: Research

    Human Papilloma Virus (HPV) infection is the major cause of cervical cancer worldwide. With limited data available on HPV prevalence in the Arab countries, this study aimed to identify the prevalence and genot...

    Authors: Devendra Bansal, Asha A Elmi, Sini Skariah, Pascale Haddad, Laith J Abu-Raddad, Aysha H Al Hamadi, Nady Mohamed-Nady, Nahla M Affifi, Randa Ghedira, Elham Hassen, Asma AJ Al-Thani, Afaf AHM Al-Ansari and Ali A Sultan

    Citation: Journal of Translational Medicine 2014 12:300

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  34. Content type: Research

    Salivary duct carcinoma (SDC) is a highly aggressive subtype of salivary gland cancers and there is no established standard therapy for this disease. Thus, development of molecular markers for SDC will be impo...

    Authors: Bo Mi Ku, Hyun Ae Jung, Jong-Mu Sun, Young Hyeh Ko, Han-Sin Jeong, Young-Ik Son, Chung-Hwan Baek, Keunchil Park and Myung-Ju Ahn

    Citation: Journal of Translational Medicine 2014 12:299

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  35. Content type: Commentary

    Since first sequencing the human genome in 2003, emerging genetic/genomic technologies have ushered in a revolutionary era of medicine that purports to bridge molecular biology and clinical care. The field of ...

    Authors: Vasiliki Rahimzadeh and Gillian Bartlett

    Citation: Journal of Translational Medicine 2014 12:238

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  36. Content type: Protocol

    Individualized Medicine aims at providing optimal treatment for an individual patient at a given time based on his specific genetic and molecular characteristics. This requires excellent clinical stratificatio...

    Authors: Hans J Grabe, Heinrich Assel, Thomas Bahls, Marcus Dörr, Karlhans Endlich, Nicole Endlich, Pia Erdmann, Ralf Ewert, Stephan B Felix, Beate Fiene, Tobias Fischer, Steffen Flessa, Nele Friedrich, Mariacarla Gadebusch-Bondio, Manuela Gesell Salazar, Elke Hammer…

    Citation: Journal of Translational Medicine 2014 12:144

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  37. Content type: Research

    Glioblastoma (GBM) is an aggressive disease associated with poor survival. It is essential to account for the complexity of GBM biology to improve diagnostic and therapeutic strategies. This complexity is best...

    Authors: Sandeep C Pingle, Zeba Sultana, Sandra Pastorino, Pengfei Jiang, Rajesh Mukthavaram, Ying Chao, Ila Sri Bharati, Natsuko Nomura, Milan Makale, Taher Abbasi, Shweta Kapoor, Ansu Kumar, Shahabuddin Usmani, Ashish Agrawal, Shireen Vali and Santosh Kesari

    Citation: Journal of Translational Medicine 2014 12:128

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  38. Content type: Research

    Activating epidermal growth factor receptor (EGFR) mutations characterize a subgroup of non-small-cell lung cancer that benefit from first line EGFR tyrosine kinase inhibitors (EGFR-TKI). However, the existence o...

    Authors: Audrey Mansuet-Lupo, Fouzia Zouiti, Marco Alifano, Anne Tallet, Marie-Christine Charpentier, Véronique Ducruit, Fabrice Devez, Fanny Lemaitre, Pierre Laurent-Puig, Diane Damotte and Hélène Blons

    Citation: Journal of Translational Medicine 2014 12:131

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  39. Content type: Research

    Hepatitis C virus (HCV) shows a remarkable genetic diversity, contributing to its high persistence and varied susceptibilities to antiviral treatment. Previous studies have reported that the substitution of am...

    Authors: Fatimah S Alhamlan, Mohammed N Al-Ahdal, Nisreen Z Khalaf, Ayman A Abdo, Faisal M Sanai, Hamad I Al-Ashgar, Mahmoud ElHefnawi, Amina Zaid and Ahmed A Al-Qahtani

    Citation: Journal of Translational Medicine 2014 12:91

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  40. Content type: Research

    Protein Tyrosine Phosphatase Receptor-type O (PTPRO) has recently been in the spotlight as a tumor suppressor, whose encoding gene is frequently methylated in cancers. We examined the methylation status of the...

    Authors: Yi-Teng Huang, Fei-Fei Li, Chen Ke, Zhou Li, Zong-Tai Li, Xiao-Fang Zou, Xiao-Xuan Zheng, Yu-Ping Chen and Hao Zhang

    Citation: Journal of Translational Medicine 2013 11:245

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  41. Content type: Research

    Activation of the PI3K/AKT pathway is a common phenomenon in cancer due to multiple mechanisms, including mutation of PI3KCA, loss or mutation of PTEN, or over-expression of receptor tyrosine kinases. We recen...

    Authors: Jing Li, Barry R Davies, Sufang Han, Minhua Zhou, Yu Bai, Jingchuan Zhang, Yan Xu, Lily Tang, Huiying Wang, Yuan Jie Liu, Xiaolu Yin, Qunsheng Ji and De-Hua Yu

    Citation: Journal of Translational Medicine 2013 11:241

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  42. Content type: Research

    Malignant peripheral nerve sheath tumors (MPNST) are rare highly aggressive sarcomas that affect 8-13% of people with neurofibromatosis type 1. The prognosis for patients with MPNST is very poor. Despite TOP2A...

    Authors: Jacqueline D Peacock, David Cherba, Kevin Kampfschulte, Mallory K Smith, Noel R Monks, Craig P Webb and Matthew Steensma

    Citation: Journal of Translational Medicine 2013 11:213

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  43. Content type: Research

    Prevalence and distribution of pathogenetic mutations in BRAF and NRAS genes were evaluated in multiple melanoma lesions from patients with different geographical origin within the same Italian population.

    Authors: Maria Colombino, Amelia Lissia, Mariaelena Capone, Vincenzo De Giorgi, Daniela Massi, Ignazio Stanganelli, Ester Fonsatti, Michele Maio, Gerardo Botti, Corrado Caracò, Nicola Mozzillo, Paolo A Ascierto, Antonio Cossu and Giuseppe Palmieri

    Citation: Journal of Translational Medicine 2013 11:202

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  44. Content type: Research

    Hearing loss is caused by several environmental and genetic factors and the proportion attributed to inherited causes is assumed at 50 ~ 60% . Mutations in GJB2 and mitochondrial DNA (mtDNA) 12S rRNA are the most...

    Authors: Qinjun Wei, Shuai Wang, Jun Yao, Yajie Lu, Zhibin Chen, Guangqian Xing and Xin Cao

    Citation: Journal of Translational Medicine 2013 11:163

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  45. Content type: Research

    A successful therapeutic strategy, specifically tailored to the molecular constitution of an individual and their disease, is an ambitious objective of modern medicine. In this report, we highlight a feasibili...

    Authors: Noel R Monks, David M Cherba, Steven G Kamerling, Heather Simpson, Anthony W Rusk, Derrick Carter, Emily Eugster, Marie Mooney, Robert Sigler, Matthew Steensma, Tessa Grabinski, Keith R Marotti and Craig P Webb

    Citation: Journal of Translational Medicine 2013 11:158

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  46. Content type: Research

    Large databases focused on genetic susceptibility to prostate cancer have been accumulated from population studies of different ancestries, including Europeans and African-Americans. Arab populations, however,...

    Authors: Jingxuan Shan, Khalid Al-Rumaihi, Danny Rabah, Issam Al-Bozom, Dhanya Kizhakayil, Karim Farhat, Sami Al-Said, Hala Kfoury, Shoba P Dsouza, Jillian Rowe, Hanif G Khalak, Shahzad Jafri, Idil I Aigha and Lotfi Chouchane

    Citation: Journal of Translational Medicine 2013 11:121

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  47. Content type: Research

    This study was designed to determine whether advanced non-small-cell lung cancer (NSCLC) patients with high copy number of epidermal growth factor receptor (EGFR) can benefit from treatment with EGFR-tyrosine ...

    Authors: Fang Wang, Sha Fu, Qiong Shao, Yan-Bin Zhou, Xiao Zhang, Xu Zhang, Cong Xue, Jian-Guang Lin, Li-Xia Huang, Li Zhang, Wei-Min Zhang and Jian-Yong Shao

    Citation: Journal of Translational Medicine 2013 11:90

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  48. Content type: Research

    Acute myocardial infarction (AMI) in young women represent an extreme phenotype associated with a higher mortality compared with similarly aged men. Prothrombotic gene variants could play a role as risk factor...

    Authors: Rossella Tomaiuolo, Chiara Bellia, Antonietta Caruso, Rosanna Di Fiore, Sandro Quaranta, Davide Noto, Angelo B Cefalù, Pierpaolo Di Micco, Federica Zarrilli, Giuseppe Castaldo, Maurizio R Averna and Marcello Ciaccio

    Citation: Journal of Translational Medicine 2012 10:235

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  49. Content type: Research

    Mutations in the SLC26A4 gene, which encodes the anion transporter, pendrin, are a major cause of autosomal recessive non-syndromic hearing loss (NSHL) in some Asian populations. SLC26A4 c.919-2A>G (IVS7-2A>G)...

    Authors: Qi Li, Qing-wen Zhu, Yong-yi Yuan, Sha-sha Huang, Dong-yi Han, De-liang Huang and Pu Dai

    Citation: Journal of Translational Medicine 2012 10:225

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