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  1. 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
  2. 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
  3. 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
  4. Actn2 defects accelerates H9c2 hypertrophy via ERK phosphorylation under chronic stress

    Background

    In humans, ACTN2 mutations are identified as highly relevant to a range of cardiomyopathies such as DCM and HCM, while their association...

    Kang Wang, Ye Wang, ... Feng Chen in Genes & Genomics
    Article 11 July 2024
  5. Gut Microbiome and colorectal cancer: discovery of bacterial changes with metagenomics application in Turkısh population

    Background

    Colorectal cancer (CRC) is the 3rd most common cancer in the world and colonic carcinogenesis is a multifactorial disease that involves...

    Yakup Ulger, Anıl Delik, Hikmet Akkız in Genes & Genomics
    Article 11 July 2024
  6. Live birth after vitrification of oocytes from capacitation in vitro maturation

    Female fertility preservation is a rapidly growing field in medicine. Oocyte cryopreservation and assisted reproductive technique with...

    Xuyen T. H. Le, Dung P. Nguyen, ... Tuong M. Ho in Journal of Assisted Reproduction and Genetics
    Article 11 July 2024
  7. Research Progress of ARTP Mutagenesis Technology Based on Citespace Visualization Analysis

    Atmospheric and room temperature plasma (ARTP) mutagenesis technology has been developed rapidly in recent years because of its simple operation,...

    Shun Gao, Li Li, ... Xuyan Zong in Molecular Biotechnology
    Article 11 July 2024
  8. Modulation of gene expression in immune-related organs by in ovo stimulation with probiotics and prophybiotics in broiler chickens

    In ovo stimulation has been studied intensively as an alternative to antibiotic use in poultry production. We investigated the potential use of a...

    Ramesha N. Wishna-Kadawarage, Katarzyna Połtowicz, ... Maria Siwek in Journal of Applied Genetics
    Article Open access 11 July 2024
  9. Gemcitabine as chemotherapy of head and neck cancer in Fanconi anemia patients

    Fanconi anemia (FA) is a rare hereditary disease resulting from an inactivating mutation in the FA/BRCA pathway, critical for the effective repair of...

    Anne M. van Harten, Ronak Shah, ... Ruud H. Brakenhoff in Oncogenesis
    Article Open access 11 July 2024
  10. Potential of animal-welfare compliant and sustainably sourced serum from pig slaughter blood

    The animal product most used as a stimulatory additive for cell cultivation is still fetal bovine serum (FBS). Besides the ethical concerns regarding...

    Olga Hahn, Kirsten Peters, ... Claudia Kalbe in Cell and Tissue Research
    Article Open access 11 July 2024
  11. Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery

    Background

    One of the major hurdles in clinical genetics is interpreting the clinical consequences associated with germline missense variants in...

    **aolei Zhang, Pantazis I. Theotokis, ... James S. Ware in Genome Medicine
    Article Open access 11 July 2024
  12. Predictors of gamete donation: a cross sectional survey study

    Purpose

    In 2015, assisted reproductive technology (ART) accounted for 1.7% of all U.S. births, donor eggs accounted for over 17,000 started cycles in...

    Roisin M. Mortimer, Ian N. Waldman, ... Andrea Lanes in Journal of Assisted Reproduction and Genetics
    Article 11 July 2024
  13. Clinical Metagenomic Next-Generation Sequencing for Diagnosis of Central Nervous System Infections: Advances and Challenges

    Central nervous system (CNS) infections carry a substantial burden of morbidity and mortality worldwide, and accurate and timely diagnosis is...

    LingHui David Su, Charles Y. Chiu, ... Anne Piantadosi in Molecular Diagnosis & Therapy
    Article 11 July 2024
  14. Expanding the phenotypic spectrum of CC2D2A-related ciliopathies: a rare homozygous nonsense variant in a patient with suspected nephronophthisis

    Biallelic pathogenic variants in the gene CC2D2A cause a spectrum of ciliopathies, including Joubert and Meckel syndrome, which frequently involve...

    Zachary T. Sentell, Zachary W. Nurcombe, ... Thomas M. Kitzler in European Journal of Human Genetics
    Article 10 July 2024
  15. A possible role of lncRNA MEG3 and lncRNA MAFG-AS1 on miRNA 147-b in the pathogenesis of Behcet’s disease

    Behcet’s disease (BD) is a multisystem disease with altered Toll-like receptors (TLRs) on macrophages. Long noncoding RNA Maternally expressed gene 3...

    Shimaa Abobakr, Olfat Shaker, ... Ayman Mohamed Hany in Immunogenetics
    Article Open access 10 July 2024
  16. Bone Turnover Markers Levels in a Cohort of Egyptian Children with Sickle Cell Disease

    Bony complications are variable and common in sickle cell disease. Bone turnover markers are a reflection of bone new bone formation or degradation....

    Mona El-Tagui, Sameh Tawfik, ... Mariam Saad Nassim in Indian Journal of Hematology and Blood Transfusion
    Article 10 July 2024
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