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  • Topic: Reversing X Chromosome Inactivation as a New Therapeutic Treatment for X-linked Diseases|Open Access

    Reversal of X chromosome inactivation: lessons from pluripotent reprogramming of mouse and human somatic cells

    Irene Cantone
    X chromosome inactivation (XCI) is a strategy used by mammals to silence genes along one of the two female X chromosomes and equilibrate expression dosage between XY males and XX females. This epigenetically-inherited silencing is established during early embryonic development and maintained thereafter through cell divisions. Seeding of multiple repressive epigenetic marks along the inactive X chromosome (Xi) makes inactivation extremely robust and difficult to reverse upon single genetic perturbations. Reversal of XCI has, however, been observed when somatic cells are reprogrammed towards... Read more
    J Transl Genet Genom 2017;1:1-14. | doi:10.20517/jtgg.2017.19
    Published on: 16 Nov 2017  | Viewed:2169  | Downloaded:149
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  • 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 Cincinnati Clinical Exome Pipeline Analysis Suite (CCEPAS) that utilizes a four-level framework into one analysis procedure that rapidly identify the most likely causative gene variants to establish a clinical diagnosis. Methods: We developed and validated CCEPAS using 100 clinical exome cases. We... Read more
    J Transl Genet Genom 2018;2:1. | doi:10.20517/jtgg.2017.05
    Published on: 31 Jan 2018  | Viewed:1979  | Downloaded:184
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  • Topic: MicroRNAs in Allergic Diseases|Open Access

    MicroRNAs in atopic dermatitis: a review

    Neeti Bhardwaj
    Atopic dermatitis (AD) is a chronic and relapsing inflammatory skin disease, generally the first clinical manifestation of atopy and the start of atopic march. Effective treatment of AD could potentially interrupt the progression of atopic march. MicroRNAs (miRNAs), a recently described class of gene expression regulators in inflammatory conditions, affect expression of numerous proteins. The role of miRNAs has been investigated in several atopic conditions, including asthma, eosinophilic esophagitis, allergic rhinitis as well as atopic dermatitis. They have been shown to be involved in the... Read more
    J Transl Genet Genom 2017;1:15-22. | doi:10.20517/jtgg.2017.01
    Published on: 17 Nov 2017  | Viewed:1784  | Downloaded:161
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  • 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 is random, once the silencing of the X chromosome has been established, this process is highly regulated and maintained throughout subsequent cell divisions. A long non-coding RNA, Xist, and its interacting proteins execute this multistep process, but several of these regulatory proteins remain... 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:1183  | Downloaded:129
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  • 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:1131  | Downloaded:110
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  • 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:603  | Downloaded:85
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  • 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 systematic review of the literature was conducted to address the relationship between ADAMTS7 polymorphism and atherosclerosis. Results: Nine studies were evaluated that examined the relationship between ADAMTS7 and coronary atherosclerosis and 3 studies that examined the relationship between ADAMTS7... Read more
    J Transl Genet Genom 2018;2:4. | doi:10.20517/jtgg.2018.01
    Published on: 13 Apr 2018  | Viewed:244  | Downloaded:16
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