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  1. Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?

    Background

    Mesomelia-Synostoses Syndrome (MSS)(OMIM 600,383) is a rare autosomal dominant disorder characterized by mesomelic limb shortening, acral...

    Ingrid Bendas Feres Lima, Lúcia de Fátima Marques de Moraes, ... Elenice Ferreira Bastos in Molecular Cytogenetics
    Article Open access 12 July 2024
  2. Contribution of plasma levels of VEGF-A and angiopoietin-2 in addition to a genetic variant in KCNAB1 to predict the risk of bevacizumab-induced hypertension

    Bevacizumab-induced hypertension poses a therapeutic challenge and identifying biomarkers for hypertension can enhance therapy safety. Lower plasma...

    Julia C. F. Quintanilha, William Kevin Kelly, Federico Innocenti in The Pharmacogenomics Journal
    Article 12 July 2024
  3. Advanced Targeting Strategies for Murine Retroviral and Adeno-associated Viral Vectors

    Targeted gene delivery involves broadening viral tropism to infect previously nonpermissive cells, replacing viral tropism to infect a target cell...
    Julie H. Yu, David V. Schaffer in Gene Therapy and Gene Delivery Systems
    Chapter
  4. Nonviral Delivery of Cancer Genetic Vaccines

    The potential use of genetic vaccines to address numerous diseases including cancer is promising, but currently unrealized. Here, we review...
    Steven R. Little, Robert Langer in Gene Therapy and Gene Delivery Systems
    Chapter
  5. Production and Formulation of Adenovirus Vectors

    Adenovirus vectors have attracted considerable interest over the past decade, with ongoing clinical development programs for applications ranging...
    Nedim E. Altaras, John G. Aunins, ... Jayanthi J. Wolf in Gene Therapy and Gene Delivery Systems
    Chapter
  6. Molecular Conjugates

    Molecular conjugates are nanometer-sized entities consisting of synthetic materials (lipids, polycations, targeting agents, and so on) and nucleic...
    Jeremy Heidel, Swaroop Mishra, Mark E. Davis in Gene Therapy and Gene Delivery Systems
    Chapter
  7. Lysine 2-hydroxyisobutyrylation levels determined adipogenesis and fat accumulation in adipose tissue in pigs

    Background

    Excessive backfat deposition lowering carcass grade is a major concern in the pig industry, especially in most breeds of obese type pigs....

    Enfa Yan, Mingyang Tan, ... **gdong Yin in Journal of Animal Science and Biotechnology
    Article Open access 12 July 2024
  8. A novel homozygous missense TTC12 variant identified in an infertile Pakistani man with severe oligoasthenoteratozoospermia and primary ciliary dyskinesia

    TTC12 is a cytoplasmic and centromere-localized protein that plays a role in the proper assembly of dynein arm complexes in motile cilia in both...

    Imtiaz Ali, Haider Ali, ... Qinghua Shi in Molecular Genetics and Genomics
    Article 12 July 2024
  9. Adeno-associated Virus as a Gene Therapy Vector: Vector Development, Production and Clinical Applications

    Adeno-associated virus (AAV) has emerged as an attractive vector for gene therapy. AAV vectors have successfully been utilized to promote...
    Joshua C. Grieger, Richard J. Samulski in Gene Therapy and Gene Delivery Systems
    Chapter
  10. Lentiviral Vectors

    We review the use of lentiviral vectors in current human gene therapy applications that involve genetic modification of nondividing tissues with...
    Nils Loewen, Eric M. Poeschla in Gene Therapy and Gene Delivery Systems
    Chapter
  11. Plasmid Vaccines and Therapeutics: From Design to Applications

    In the late 1980s, Vical and collaborators discovered that the injection into tissues of unformulated plasmid encoding various proteins resulted in...
    Marston Manthorpe, Peter Hobart, ... Alain Rolland in Gene Therapy and Gene Delivery Systems
    Chapter
  12. Effects of Sex Steroids on Innate and Adaptive Immunity

    Estrogens and androgens are classically recognized as reproductive sex steroid hormones because of their well-documented effects on reproductive...
    S. Ansar Ahmed, Ebru Karpuzoglu, Deena Khan in Sex Hormones and Immunity to Infection
    Chapter
  13. Glass working and recycling in Pompeii: new evidence from the landfill of the Sarno Baths (VIII 2, 17–23)

    Forty-six glass finds, including vessel fragments, windows, one inlay and one indicator of production (moil) excavated in the dump of the Sarno Baths...

    Cristina Boschetti, Guido Furlan, ... Jacopo Bonetto in Archaeological and Anthropological Sciences
    Article Open access 11 July 2024
  14. The influence of the vaginal ecosystem on vaginitis, bacterial vaginosis, and sexually transmitted diseases: an epidemiological study and literature review

    Purpose

    This study aimed to demonstrate the correlation between altered balance of the vaginal ecosystem and increased risk of vaginitis, bacterial...

    Sara Occhipinti, Giosuè Giordano Incognito, Marco Palumbo in Archives of Gynecology and Obstetrics
    Article Open access 11 July 2024
  15. Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein

    The clinical diagnosis of patients with multisystem involvement including a pronounced neurologic damage is challenging. High-throughput sequencing...

    Boudour Khabou, Umar Bin Mohamad Sahari, ... Chahnez Charfi Triki in Journal of Human Genetics
    Article 11 July 2024
  16. Expression genome-wide association study identifies key regulatory variants enriched with metabolic and immune functions in four porcine tissues

    Background

    Integration of high throughput DNA genoty** and RNA-sequencing data enables the discovery of genomic regions that regulate gene...

    Samin Farhangi, Marta Gòdia, ... Martien A.M. Groenen in BMC Genomics
    Article Open access 11 July 2024
  17. Silencing DOCK2 Attenuates Cardiac Fibrosis Following Myocardial Infarction in Mice Via Targeting PI3K/Akt and Wnt/β-Catenin Pathways

    Cardiac fibrosis following myocardial infarction (MI) seriously affects the prognosis and survival rate of patients. This study aimed to determine...

    Guangquan Hu, ** Chen, ... **aojie Ding in Journal of Cardiovascular Translational Research
    Article 11 July 2024
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