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    Original Article| Open Access

    Plasma microRNA profiles identify distinct clinical phenotypes in human asthmatics

    Simin Zhang, Zoe Laryea, Ronaldo Panganiban, Kristin Lambert, Diana Hsu, Faoud T. Ishmael

    Aim: Asthma is a chronic inflammatory syndrome that is characterized by heterogeneous disease pathogeneses that produce distinct subtypes. There is a great need to develop biomarkers to distinguish these subtypes and help guide specific therapy and better predict outcomes, particularly in severe... Read more

    This article belongs to the Special Issue MicroRNAs in Allergic Diseases J Transl Genet Genom 2018;2:18. | doi:10.20517/jtgg.2018.22
    Published on: 7 Nov 2018  | Viewed:146  | Downloaded:11
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    Review| Open Access

    Genomics and genetics of clear cell renal cell carcinoma: a mini-review

    Valerie H. Le, James J. Hsieh

    Renal cell carcinoma (RCC) represents a heterogeneous group of malignancies derived from the kidney, of which clear cell RCC (ccRCC) accounts for nearly 75% of cases. Despite major advances in effective therapies, metastatic ccRCC is still associated with a 10%-20% 5-year survival and remains... Read more

    This article belongs to the Special Issue Genetics and Genomics of Cancer J Transl Genet Genom 2018;2:17. | doi:10.20517/jtgg.2018.28
    Published on: 6 Nov 2018  | Viewed:230  | Downloaded:29
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    Review| Open Access

    Personalized medicine in epilepsy patients

    Alessandro Orsini, Mariagrazia Esposito, Daniele Perna, Alice Bonuccelli, Diego Peroni, Pasquale Striano

    The large number of different syndromes and seizure types together with an interindividual variable response to antiepileptic drugs (AEDs) make the treatment of epilepsy challenging. Fortunately, the last few years have been characterized by a huge interest in epilepsy genetics and two methods,... Read more

    This article belongs to the Special Issue Personalized genomic medicine: challenges and opportunities for the diagnosis and the treatment of human disease J Transl Genet Genom 2018;2:16. | doi:10.20517/jtgg.2018.14
    Published on: 25 Oct 2018  | Viewed:328  | Downloaded:32
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    Review| Open Access

    Radiogenomics of medulloblastoma: imaging surrogates of molecular biology

    Archya Dasgupta, Tejpal Gupta

    Medulloblastoma is a heterogeneous disease comprising four molecular subgroups - wingless (WNT), sonic hedge hog (SHH), group 3, and group 4, with distinct developmental origins, unique transcriptional profiles, diverse phenotypes, and varying clinical outcomes. Magnetic resonance imaging (MRI)... Read more

    This article belongs to the Special Issue Genetics and Genomics of Cancer J Transl Genet Genom 2018;2:15. | doi:10.20517/jtgg.2018.21
    Published on: 24 Oct 2018  | Viewed:206  | Downloaded:16
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    Review| Open Access

    Clinical and therapeutic implications of melanoma genomics

    Michael Shaughnessy, Nikolai Klebanov, Hensin Tsao

    Melanoma represents just 1% of skin cancer but is responsible for the vast majority of skin cancer deaths. Given its implications for therapeutic advancement, the field of melanoma genomics has dramatically expanded in recent years. At one time classified mainly by anatomical location - non-acral... Read more

    This article belongs to the Special Issue Genetics and Genomics of Cancer J Transl Genet Genom 2018;2:14. | doi:10.20517/jtgg.2018.25
    Published on: 28 Sep 2018  | Viewed:570  | Downloaded:54
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    Review| Open Access

    Challenges in implementing genomic medicine: the 100,000 Genomes Project

    Julian G. Barwell, Rory B.G. O’Sullivan, Laura K. Mansbridge, Joanna M. Lowry, Huw R. Dorkins

    Many important medical conditions may be the result of an inherited mutation in one of a number of different genes. Technical advances have reduced the cost of whole genome sequencing and whole exome sequencing to a level where it is now feasible to analyse multiple genes in one test. Every human... Read more

    This article belongs to the Special Issue Personalized genomic medicine: challenges and opportunities for the diagnosis and the treatment of human disease J Transl Genet Genom 2018;2:13. | doi:10.20517/jtgg.2018.17
    Published on: 11 Sep 2018  | Viewed:2288  | Downloaded:168
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    Original Article| Open Access

    Which came first: validity or clinical testing? The example of long QT genes

    Lacey Boshe, A. Katherine M. Foreman, Jennifer L. Goldstein, Natasha T. Strande, Jonathan S. Berg, Julianne M. O’Daniel

    Aim: To investigate the potential relationship between the strength of evidence for a gene-disease association and inclusion of the gene on a targeted, indication-based gene panel test for hereditary long QT syndrome (LQTS) and to explore factors that may influence laboratory decisions about the... Read more

    This article belongs to the Special Issue Personalized genomic medicine: challenges and opportunities for the diagnosis and the treatment of human disease J Transl Genet Genom 2018;2:12. | doi:10.20517/jtgg.2018.18
    Published on: 30 Aug 2018  | Viewed:408  | Downloaded:18
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    Review| Open Access

    Biomarkers and therapeutic targets: microRNA roles in the pathophysiology, diagnosis and management of eosinophilic esophagitis

    Kristin A. Lambert, Punit Jhaveri, Pooja Jhaveri

    Eosinophilic esophagitis (EoE) is a chronic inflammatory disease that is increasingly recognized as the cause of common gastrointestinal symptoms including dysphagia, chest and abdominal pain, heartburn, food impaction, and food refusal in children and adults. Often referred to as “asthma of the... Read more

    This article belongs to the Special Issue MicroRNAs in Allergic Diseases J Transl Genet Genom 2018;2:11. | doi:10.20517/jtgg.2018.11
    Published on: 8 Aug 2018  | Viewed:773  | Downloaded:43
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    Review| Open Access

    Molecular genetics of Ewing sarcoma, model systems and finding novel (immuno-) therapeutic targets

    Wietske van der Ent, Laurens G.L. Sand, Pancras C.W. Hogendoorn

    Ewing sarcoma (EWS) is a bone- and soft tissue tumour affecting primarily children and young adults. A quarter of patients present with metastases at the time of diagnosis and have a poor outlook in terms of overall survival. Efforts are made across the field to gain deeper insight in the... Read more

    This article belongs to the Special Issue Genetics and Genomics of Cancer J Transl Genet Genom 2018;2:10. | doi:10.20517/jtgg.2018.09
    Published on: 16 Jul 2018  | Viewed:1218  | Downloaded:57
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    Review| Open Access

    MERRF and MELAS: current gene therapy trends and approaches

    Ciara Ann Agresti, Penelope Nicole Halkiadakis, Peter Tolias

    The mitochondrion is a unique organelle that predominantly functions to produce useful cellular energy in the form of adenosine triphosphate (ATP). Unlike other non-nuclear eukaryotic organelles (with the exception of chloroplasts), mitochondria have two lipid membranes that enclose their own... Read more

    This article belongs to the Special Issue Personalized genomic medicine: challenges and opportunities for the diagnosis and the treatment of human disease J Transl Genet Genom 2018;2:9. | doi:10.20517/jtgg.2018.05
    Published on: 3 Jul 2018  | Viewed:1395  | Downloaded:75
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