Genetics at BMC
@OAgenetics
A group of Open Access journals highlighting cutting edge research in the genetics sector. Published by BioMed Central - a part of Springer Nature.
Read a new review on epigenetic regulation in spinal muscular atrophy, just published in the Orphanet Journal of Rare Diseases. ojrd.biomedcentral.com/articles/10.11…

🧬A new multi-ancestry study links colorectal cancer (CRC) genetic risk to breast & prostate cancer, obesity, smoking & alcohol use. These shared genetic factors could unlock new prevention & treatment strategies. #Genomics #CRC #PheWAS #PrecisionMedicine humgenomics.biomedcentral.com/articles/10.11…

New update on the sideroflexin gene family published in Human Genomics. humgenomics.biomedcentral.com/articles/10.11…

Read the latest 'Dear Editor letter' published: Assessing the reliability of ChatGPT in cytogenetic reporting and interpretation: implications for clinical use in Molecular Cytogenetics. …lecularcytogenetics.biomedcentral.com/articles/10.11…
A study in Mobile DNA investigates locus-specific HERV expression and its association with gene dysregulation in hepatocellular carcinoma (HCC) mobilednajournal.biomedcentral.com/articles/10.11…

A new study in Mobile DNA represents the first systematic exploration of the heterogeneity of HERV expression between anatomic features of any cancer. Findings underscore the importance of locus-specific and anatomic feature-specific HERV analysis. mobilednajournal.biomedcentral.com/articles/10.11…

Silver-Russell Syndrome: Phenotype Features and Oral Health Status ojrd.biomedcentral.com/articles/10.11… New research examines the phenotypic and oral health characteristics of patients with SRS, highlighting the importance of early dental and orthodontic care in enhancing quality of life.
Read a new review in Orphanet Journal of Rare Diseases: In vivo applications and toxicities of AAV-based gene therapies in rare diseases. doi.org/10.1186/s13023…

Clinical Epigenetics reports on a study investigating circulating methylated GCM2 and TMEM240 as potential biomarkers for monitoring breast cancer progression. This evaluation was conducted with a large and highly diverse sample size. doi.org/10.1186/s13148…

Check out new research just published in Clinical Epigenetics: DNA methylation in normal-appearing tissue associated with prostate cancer recurrence and metastasis. doi.org/10.1186/s13148…

New update on the sideroflexin gene family published in Human Genomics. humgenomics.biomedcentral.com/articles/10.11…

Clinical Epigenetics publishes new research on multifaceted regulation of the HOX cluster and its implications in oral cancer. doi.org/10.1186/s13148…

Read about Martinostat as a novel HDAC inhibitor to overcome tyrosine kinase inhibitor resistance in chronic myeloid leukemia in Clinical Epigenetics. doi.org/10.1186/s13148…

🧬Call for Content: Submit to Hereditas' new collection: 'Single-cell multi-omic analysis of cancer interactome' Guest Edited by Hua-Sheng Chiu ➡️Submit here: biomedcentral.com/collections/sm…

Check out Skeletal Muscle's new Featured Article: 📄Identifying Kinematic Biomarkers of the Dystrophic Phenotype in a Zebrafish Model of Duchenne Muscular Dystrophy 🔗…eletalmusclejournal.biomedcentral.com/articles/10.11… #DMD #ZebrafishModel #MuscleResearch #Kinematics #OAResearch

New update on the sideroflexin gene family published in Human Genomics. humgenomics.biomedcentral.com/articles/10.11…

Read about Cobalamin C deficiency: a rare but treatable genetic cause of pulmonary hypertension in the Orphanet Journal of Rare Diseases. doi.org/10.1186/s13023…
🔬 Discover the new Featured Collection article published in Biology Direct 📄 Soft X-ray Tomography Analysis of Mitochondria Dynamics in Saccharomyces cerevisiae 🔗biologydirect.biomedcentral.com/articles/10.11… #Mitochondria #XrayTomography #YeastResearch #OAResearch

Read about Pitfalls in the diagnosis of apparent homozygous mutations: two cases of IL10RA deficiency inflammatory bowel disease and a literature review. doi.org/10.1186/s13023…

New article in Orphanet Journal of Rare Diseases: Erythropoietic protoporphyria linked to intricate double heterozygous mutations in the FECH gene: a case report and literature review. doi.org/10.1186/s13023…