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    Genetic

    Scientists find uncommon hereditary disorder that influences the brain, heart and facial highlights

    Researchers at the National Institutes of Health have discovered a new genetic disorder characterized by developmental delays and malformations of the brain, heart and facial features. Named linkage-specific-deubiquitylation-deficiency-induced embryonic defects syndrome (LINKED), it is caused by a mutated version of the OTUD5 gene, which interferes with key molecular actions in embryo development. The findings indicate

    Pancreatic β cell-inferred exosomal miR-29s control glucose homeostasis

    In a new study published in Journal of Extracellular Vesicles, Chen-Yu Zhang’s team at Nanjing University, School of Life Sciences, and Antonio Vidal-Puig’s group at University of Cambridge report that pancreatic β cells secrete miR-29 family members (miR-29s) via exosomes in reaction to high levels of free fatty acids (FFAs). Formerly, Chen-Yu Zhang’s team identified

    Study shows why children of obese moms have inclination to create metabolic illnesses

    A Brazilian study published in the journal Molecular Human Reproduction helps understand why overweight mothers often have children with a propensity to develop metabolic disease during their lifetime, according to previous research. According to the authors,”transgenerational transmission of metabolic disorders” may be associated with Mfn2 deficiency in the mother’s oocytes (immature eggs). Mfn2 refers to

    Gene panel test empowers exceptionally exact diagnosis of liposarcomas

    Scientists have leveraged the latest advances in RNA technology and machine learning methods to develop a gene panel evaluation which allows for highly accurate diagnosis of the most frequent kinds of liposarcoma. The new assay is described in The Journal of Molecular Diagnosis, published by Elsevier. Liposarcomas are a type of malignant cancer that is

    New device empowers study of SARS-CoV-2 mutant range by ultrasequencing

    SARS-CoV-2 genome is three times larger than flu genome. Both consist of NRA molecules which mutate when replicate. It is essential to know its mutant spectrum, in other words, its”fingerprints”, to achieve an appropriate treatment that reduces its infectivity -the capacity of pathogens to invade organisms and cause infections-, since its composition of variables could

    Researchers utilize funtional test to quantify the impact of inhertited varient in BRCA2 acancer gene

    Researchers at Mayo Clinic have combined results from a functional test measuring the effect of inherited variations in the BRCA2 breast and ovarian cancer gene with clinical information from women who received genetic testing to determine the clinical importance of many BRCA2 variants of uncertain significance (VUS). The findings were published today in a study