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Biomedicine

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Showing 21-30 of 30 results

  1. Identification of novel genomic imbalances in Saudi patients with congenital heart disease

    Background

    Quick genetic diagnosis of a patient with congenital heart disease (CHD) is quite important for proper health care and management. Copy...

    Zuhair N. Al-Hassnan, Waad Albawardi, ... Namik Kaya in Molecular Cytogenetics
    Article Open access 25 January 2018

  2. Lower genomic stability of induced pluripotent stem cells reflects increased non-homologous end joining

    Background

    Induced pluripotent stem cells (iPSCs) and embryonic stem cells (ESCs) share many common features, including similar morphology, gene...

    Minjie Zhang, Liu Wang, ... Yingli Sun in Cancer Communications
    Article Open access 25 July 2018

  3. Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms

    Coronary artery disease (CAD) is a leading cause of morbidity and mortality worldwide 1 , 2 . Although 58 genomic regions have been associated with CAD...

    Joanna M M Howson, Wei Zhao, ... Danish Saleheen in Nature Genetics
    Article 22 May 2017

  4. BACE1-Deficient Mice Exhibit Alterations in Immune System Pathways

    BACE1 encodes for the beta-site amyloid precursor protein cleaving enzyme 1 or β-secretase. Genetic deletion of Bace1 leads to behavioral alterations...

    L. Stertz, V. Contreras-Shannon, ... C. Walss-Bass in Molecular Neurobiology
    Article 21 December 2016

  5. The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

    In this study, we report the experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families...

    Dorota Monies, Mohamed Abouelhoda, ... Fowzan S. Alkuraya in Human Genetics
    Article Open access 09 June 2017

  6. Longitudinal genome-wide methylation study of Roux-en-Y gastric bypass patients reveals novel CpG sites associated with essential hypertension

    Background

    Essential hypertension is a significant risk factor for cardiovascular diseases. Emerging research suggests a role of DNA methylation in...

    Adrian E. Boström, Jessica Mwinyi, ... Helgi B. Schiöth in BMC Medical Genomics
    Article Open access 22 April 2016

  8. A Coding Variant of ANO10, Affecting Volume Regulation of Macrophages, Is Associated with Borrelia Seropositivity

    In a first genome-wide association study (GWAS) approach to anti-Borrelia seropositivity, we identified two significant single nucleotide...

    Christian Hammer, Podchanart Wanitchakool, ... Karl Kunzelmann in Molecular Medicine
    Article Open access 23 February 2015

  9. Consensus Paper: Pathological Mechanisms Underlying Neurodegeneration in Spinocerebellar Ataxias

    Intensive scientific research devoted in the recent years to understand the molecular mechanisms or neurodegeneration in spinocerebellar ataxias...

    A. Matilla-Dueñas, T. Ashizawa, ... I. Sánchez in The Cerebellum
    Article 05 December 2013

  10. Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes

    Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited neurodegenerative disease caused by expansion of a glutamine tract in ataxin-1...

    Aaron B Bowman, Yung C Lam, ... Huda Y Zoghbi in Nature Genetics
    Article 18 February 2007
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