All Stories

  1. Toward a Multi-Trait Genetic Panel Targeting Training, Rehabilitation, and Chronic Disease Prevention: A Narrative Review
  2. Genetic Landscape of Familial Melanoma
  3. Establishing Best Practices for Clinical GWAS: Tackling Imputation and Data Quality Challenges
  4. Rapid and Cost-Effective Diagnostic Blot Assays Based on the Use of Plant-Produced Recombinant Antigens: Lessons Learned from the SARS-CoV-2 RBD Antigen
  5. Skin Microbiome Overview: How Physical Activity Influences Bacteria
  6. Special Issue Introduction: Human Microbiota—Current Updates on Pathogenetic Mechanisms and Methodological Advances
  7. How Does Physical Activity Modulate Hormone Responses?
  8. Thrombosis and Thrombotic Risk in Athletes
  9. The Third-Generation Sequencing Challenge: Novel Insights for the Omic Sciences
  10. MCT4-driven CAF-mediated metabolic reprogramming in breast cancer microenvironment is a vulnerability targetable by miR-425-5p
  11. One-step NGS molecular analysis of the CFTR gene on newborn dried blood spots gives a higher diagnostic sensitivity in affected and carrier subjects: A pilot study
  12. The Potential Usefulness of the Expanded Carrier Screening to Identify Hereditary Genetic Diseases: A Case Report from Real-World Data
  13. Integrated Approach to Highlighting the Molecular Bases of a Deep Vein Thrombosis Event in an Elite Basketball Athlete
  14. Metagenomics Reveals Specific Microbial Features in Males with Semen Alterations
  15. A Familial Novel Putative-Pathogenic Mutation Identified in Plaque-Psoriasis by a Multigene Panel Analysis
  16. Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes
  17. Gut Microbiome and Mycobiome Alterations in an In Vivo Model of Alzheimer’s Disease
  18. Endosomal trafficking and related genetic underpinnings as a hub in Alzheimer's disease
  19. Multi-gene panel testing increases germline predisposing mutations’ detection in a cohort of breast/ovarian cancer patients from Southern Italy
  20. D-aspartate oxidase gene duplication induces social recognition memory deficit in mice and intellectual disabilities in humans
  21. Modulation of Gut Microbiota and Neuroprotective Effect of a Yeast-Enriched Beer
  22. Evaluation of a Four-Gene Panel for Hereditary Cancer Risk Assessment
  23. Combined aCGH and Exome Sequencing Analysis Improves Autism Spectrum Disorders Diagnosis: A Case Report
  24. Methylome Analysis in Nonfunctioning and GH-Secreting Pituitary Adenomas
  25. Current Updates on Expanded Carrier Screening: New Insights in the Omics Era
  26. Activation of Non-Canonical Autophagic Pathway through Inhibition of Non-Integrin Laminin Receptor in Neuronal Cells
  27. The Biological Role of Vitamins in Athletes’ Muscle, Heart and Microbiota
  28. Microbiome composition indicate dysbiosis and lower richness in tumor breast tissues compared to healthy adjacent paired tissue, within the same women
  29. Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge
  30. Promelaxin Microenemas Are Non-inferior to Oral Polyethylene Glycol for the Treatment of Functional Constipation in Young Children: A Randomized Clinical Trial
  31. Comprehensive Molecular Analysis of DMD Gene Increases the Diagnostic Value of Dystrophinopathies: A Pilot Study in a Southern Italy Cohort of Patients
  32. Microbiological Evaluation and Sperm DNA Fragmentation in Semen Samples of Patients Undergoing Fertility Investigation
  33. Unraveling the Balance between Genes, Microbes, Lifestyle and the Environment to Improve Healthy Reproduction
  34. The Combination of Berberine, Tocotrienols and Coffee Extracts Improves Metabolic Profile and Liver Steatosis by the Modulation of Gut Microbiota and Hepatic miR-122 and miR-34a Expression in Mice
  35. Updates on liquid biopsy: current trends and future perspectives for clinical application in solid tumors
  36. One4Two®: An Integrated Molecular Approach to Optimize Infertile Couples’ Journey
  37. Probiotics, prebiotics and their role in Alzheimer’s disease
  38. Duodenal Metatranscriptomics to Define Human and Microbial Functional Alterations Associated with Severe Obesity: A Pilot Study
  39. Inhibition of 37/67kDa Laminin-1 Receptor Restores APP Maturation and Reduces Amyloid-β in Human Skin Fibroblasts from Familial Alzheimer’s Disease
  40. The abundance of the long intergenic non-coding RNA 01087 differentiates between luminal and triple-negative breast cancers and predicts patient outcome
  41. Unexplained sudden cardiac arrest in children: clinical and genetic characteristics of survivors
  42. Yield and clinical significance of genetic screening in elite and amateur athletes
  43. Genetic analysis resolves differential diagnosis of a familial syndromic dilated cardiomyopathy: A new case of Alström syndrome
  44. Genotype-Phenotype Correlation: A Triple DNA Mutational Event in a Boy Entering Sport Conveys an Additional Pathogenicity Risk
  45. Microbiota and Human Reproduction: The Case of Female Infertility
  46. New Insights into the Molecular Bases of Familial Alzheimer’s Disease
  47. Microbiota and Human Reproduction: The Case of Male Infertility
  48. Characterization of the Duodenal Mucosal Microbiome in Obese Adult Subjects by 16S rRNA Sequencing
  49. From laboratory bench to benchmark: technology transfer in laboratory medicine
  50. Innovative technologies for diagnosis and screening of genetic diseases in antenatal age
  51. Setup of Quantitative PCR for Oral Neisseria spp. Evaluation in Celiac Disease Diagnosis
  52. A Functional Analysis of the Unclassified Pro2767Ser BRCA2 Variant Reveals Its Potential Pathogenicity that Acts by Hampering DNA Binding and Homology-Mediated DNA Repair
  53. Microbiome Influence in the Pathogenesis of Prion and Alzheimer’s Diseases
  54. The evolving role of genetic tests in reproductive medicine
  55. The Molecular Hallmarks of the Serrated Pathway in Colorectal Cancer
  56. Publisher Correction: Randomized controlled trial on the influence of dietary intervention on epigenetic mechanisms in children with cow’s milk allergy: the EPICMA study
  57. Celiac disease‐associated Neisseria flavescens decreases mitochondrial respiration in CaCo‐2 epithelial cells: Impact of Lactobacillus paracasei CBA L74 on bacterial‐induced cellular imbalance
  58. Randomized controlled trial on the influence of dietary intervention on epigenetic mechanisms in children with cow’s milk allergy: the EPICMA study
  59. Dissecting Intra-Tumor Heterogeneity by the Analysis of Copy Number Variations in Single Cells: The Neuroblastoma Case Study
  60. A multi-gene panel beyond BRCA1/BRCA2 to identify new breast cancer-predisposing mutations by a picodroplet PCR followed by a next-generation sequencing strategy: a pilot study
  61. The Prenatal Microbiome: A New Player for Human Health
  62. Oropharyngeal microbiome evaluation highlights Neisseria abundance in active celiac patients
  63. Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technology
  64. The High-Throughput Analyses Era: Are We Ready for the Data Struggle?
  65. Molecular diagnosis of Brugada syndrome via next-generation sequencing of a multigene panel in a young athlete
  66. Metastatic group 3 medulloblastoma is driven by PRUNE1 targeting NME1–TGF-β–OTX2–SNAIL via PTEN inhibition
  67. Altered Bioenergetic Profile in Umbilical Cord and Amniotic Mesenchymal Stem Cells from Newborns of Obese Women
  68. Human Microbiome Acquisition and Bioinformatic Challenges in Metagenomic Studies
  69. Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report
  70. Altered miR-193a-5p expression in children with cow's milk allergy
  71. The SEeMORE strategy: single-tube electrophoresis analysis-based genotyping to detect monogenic diseases rapidly and effectively from conception until birth
  72. Detection of colonic dysplasia in patients with ulcerative colitis using a targeted fluorescent peptide and confocal laser endomicroscopy: A pilot study
  73. The Cause of Death of a Child in the 18th Century Solved by Bone Microbiome Typing Using Laser Microdissection and Next Generation Sequencing
  74. miR-138/miR-222 Overexpression Characterizes the miRNome of Amniotic Mesenchymal Stem Cells in Obesity
  75. Sex-Comparative Analysis of the miRNome of Human Amniotic Mesenchymal Stem Cells During Obesity
  76. Corrigendum: No Change in the Mucosal Gut Microbiome is Associated with Celiac Disease-Specific Microbiome Alteration in Adult Patients
  77. A Novel Pathogenic BRCA1 Splicing Variant Produces Partial Intron Retention in the Mature Messenger RNA
  78. The complete 12 Mb genome and transcriptome of Nonomuraea gerenzanensis with new insights into its duplicated “magic” RNA polymerase
  79. No Change in the Mucosal Gut Microbiome is Associated With Celiac Disease-Specific Microbiome Alteration in Adult Patients
  80. Epigenetic features of FoxP3 in children with cow’s milk allergy
  81. Metagenomics Reveals Dysbiosis and a Potentially Pathogenic N. flavescens Strain in Duodenum of Adult Celiac Patients
  82. A First Look at an Automated Pipeline for NGS-Based Breast-Cancer Diagnosis: The CArDIGAN Approach
  83. The role of the gut microbiome in the healthy adult status
  84. The molecular analysis of BRCA1 and BRCA2: Next-generation sequencing supersedes conventional approaches
  85. Differences in DNA methylation profile of Th1 and Th2 cytokine genes are associated with tolerance acquisition in children with IgE-mediated cow’s milk allergy
  86. A Polymorphism at the Translation Start Site of the Vitamin D Receptor Gene Is Associated with the Response to Anti-Osteoporotic Therapy in Postmenopausal Women from Southern Italy
  87. A role for D-aspartate oxidase in schizophrenia and in schizophrenia-related symptoms induced by phencyclidine in mice
  88. Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives
  89. The Analysis of the Inflorescence miRNome of the Orchid Orchis italica Reveals a DEF-Like MADS-Box Gene as a New miRNA Target
  90. Should a BRCA2 stop codon human variant, usually considered a polymorphism, be classified as a predisposing mutation?
  91. Comparative Metagenomic Analysis of Human Gut Microbiome Composition Using Two Different Bioinformatic Pipelines
  92. Complete sequencing of Novosphingobium sp. PP1Y reveals a biotechnologically meaningful metabolic pattern
  93. DNA Sequence Capture and Next-Generation Sequencing for the Molecular Diagnosis of Genetic Cardiomyopathies
  94. An Altered Gut Microbiome Profile in a Child Affected by Crohnʼs Disease Normalized After Nutritional Therapy
  95. De Novo Sequencing and Assembly of the Whole Genome of Novosphingobium sp. Strain PP1Y
  96. Mutational spectrum ofF8gene and prothrombotic gene variants in haemophilia A patients from Southern Italy
  97. Haemophilia A: molecular insights