LATEST
  • image
    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:290  | Downloaded:36
    +HTML| PDF
  • image
    Case Report| Open Access

    Detection of leukocyte adhesion deficiency type 1 in an infant by high-throughput targeted exome sequencing

    Sha Hong , Li-Juan Xie , Qing-Nan Yang , Tian-Wen Zhu

    Leukocyte adhesion deficiency type 1 (LAD-I) characterized by immune-deficiency and leukocytosis is rare in infant patients. A 43-day-old boy with severe leukocytosis, recurrent infections, defective wound healing and hepatosplenomegaly associated with an acquired cytomegalovirus infection. To... 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;2:8. | doi:10.20517/jtgg.2018.06
    Published on: 28 Jun 2018  | Viewed:77  | Downloaded:3
    +HTML| PDF
  • image
    Review| Open Access

    The failure of “engineered rejuvenation”: laboratory genomics do not translate into precision anti-aging therapies

    Marios Kyriazis

    There is a general failure of reductionist and mechanistic approaches to rejuvenation biomedical technologies which aim at providing treatments against aging (defined as “time-dependent dysfunction”). Importantly, it is becoming increasingly recognised that genomic research findings in animals... 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;2:7. | doi:10.20517/jtgg.2018.04
    Published on: 15 Jun 2018  | Viewed:285  | Downloaded:15
    +HTML| PDF
  • image
    Original Article| Open Access

    Exome sequencing identifies FLNC and ADD3 variants in a family with cardiomyopathy

    Alejandro J. Sanoja , Hua Li , F. Jay Fricker , Stephen F. Kingsmore , Margaret R. Wallace

    Aim: Idiopathic cardiomyopathy is often genetic in origin, typically autosomal dominant, and restrictive cardiomyopathy (RCM) is the rarest form. Clinically, RCM prognosis is poor with most patients requiring heart transplant due to impaired diastolic function leading to heart failure. In some... Read more

    J Transl Genet Genom 2018;2:6. | doi:10.20517/jtgg.2017.13
    Published on: 30 May 2018  | Viewed:265  | Downloaded:21
    +HTML| PDF
  • image
    Review| Open Access

    Parathyroid carcinoma

    Jessica Costa-Guda

    Parathyroid carcinoma is a rare but clinically-aggressive tumor. While most cases are sporadic, parathyroid cancer is overrepresented in hyperparathyroidism-jaw tumor syndrome, or rarely other heritable syndromes. Evidence suggests that sporadic parathyroid carcinomas rarely, if ever, evolve... Read more

    This article belongs to the Special Issue Genetics and Genomics of Cancer J Transl Genet Genom 2018;2:5. | doi:10.20517/jtgg.2018.08
    Published on: 22 May 2018  | Viewed:282  | Downloaded:21
    +HTML| PDF
  • image
    Systematic Review| Open Access

    Clinical genomics of the relationship between ADAMTS7 and coronary artery calcification and atherosclerosis

    Simon W. Rabkin , Pavlos G. Koitsopoulos

    Aim: There are many coronary artery disease (CAD) cases in which the explanation for its development cannot be readily explained by traditional risk factors. The purpose of this study was to examine the data whether ADAMTS7 polymorphisms is related to the presence or severity of CAD. Methods: A... Read more

    J Transl Genet Genom 2018;2:4. | doi:10.20517/jtgg.2018.01
    Published on: 13 Apr 2018  | Viewed:422  | Downloaded:32
    +HTML| PDF
  • image
    Editorial| Open Access

    Awakening the sleeping giant: methods for reactivating the inactive X chromosome as clinical treatment for X-linked disorders

    Andrea Cerase This article belongs to the Special Issue Reversing X Chromosome Inactivation as a New Therapeutic Treatment for X-linked Diseases J Transl Genet Genom 2018;2:3. | doi:10.20517/jtgg.2018.02
    Published on: 1 Mar 2018  | Viewed:800  | Downloaded:101
    +HTML| PDF
  • image
    Review| Open Access

    Novel molecular players of X chromosome inactivation: new technologies and new insights

    Piotr Przanowski , Urszula Waśko , Sanchita Bhatnagar

    The dosage compensation in placental mammals is achieved by silencing of one copy of the X chromosomes in a female cell by a process called X chromosome inactivation (XCI). XCI ensures equal gene dosage for X-linked genes between the two genders. Although the choice of X chromosome to be silenced... Read more

    This article belongs to the Special Issue Reversing X Chromosome Inactivation as a New Therapeutic Treatment for X-linked Diseases J Transl Genet Genom 2018;2:2. | doi:10.20517/jtgg.2017.03
    Published on: 27 Feb 2018  | Viewed:1563  | Downloaded:155
    +HTML| PDF
  • image
    Original Article| Open Access

    CCEPAS: the creation and validation of a fast and sensitive clinical whole exome analysis pipeline based on gene and variant ranking

    C. Alexander Valencia , Abhinav Mathur , James Denton , Chao Wei , Xinjian Wang , Ammar Husami , Prakash Velayutham , Masaru Ryumae , Kejian Zhang

    Aim: Whole exome sequencing technology has permitted the discovery of genes that cause Mendelian disorders and was used in clinical laboratories. However, identifying the disease causing variant(s) for a specific disorder from thousands of variants is challenging. In this study, we describe the... Read more

    J Transl Genet Genom 2018;2:1. | doi:10.20517/jtgg.2017.05
    Published on: 31 Jan 2018  | Viewed:2524  | Downloaded:206
    +HTML| PDF
  • image
    Letter to Editor| Open Access

    Gene dosage defects in primary immunodeficiencies and related disorders: a pilot study

    Lisa Dyer , Xia Li , James Denton , Brittany Jones , Emily Liston , Danielle Hilton , Abhinav Mathur , Kejian Zhang , C. Alexander Valencia J Transl Genet Genom 2017;1:23-7. | doi:10.20517/jtgg.2017.04
    Published on: 25 Dec 2017  | Viewed:1263  | Downloaded:126
    +HTML| PDF
Subscribe

To receive email updates about the journal, please subscribe here.

Partners
Copyright © 2018 OAE Publishing Inc. All Rights Reserved.