A new method, based on gene editing with oligonucleotides and functional analyses, identifies which variants of DNA repair genes associated with Lynch syndrome are truly harmful and which are not.
Introduction Inherited cardiac conditions, including dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM), may ...
A nationwide Australian pilot screened more than 10,000 adults aged 18–40 years for high-risk genetic variants linked to ...
Protein tyrosine phosphatase non-receptor type 2 ( PTPN2 ) is a tyrosine phosphatase involved in T cell receptor signal ...
13don MSN
New method reveals how mutations drive transthyretin amyloidosis and guides precision drug design
An international research team reveals new molecular mechanisms associated with pathogenic mutations in the protein ...
Leveraging high variant allele frequencies (VAF) of DNA damage repair (DDR) mutations (muts) in liquid biopsy (LBx) as a surrogate for germline testing: Implications for precision medicine. Estimated ...
New technologies like wastewater surveillance have enabled public health officials to monitor the spread of a few infectious diseases in a community by identifying known pathogens by their DNA. While ...
A new technique known as phylowave showed potential to identify differences in fitness among viral and bacterial pathogens, based on data from a study including SARS-CoV-2, influenza A subtype H3N2, ...
Genetic variation is the foundation of human diversity, enabling differences in traits such as height, eye color, or blood type. Some sequence variants also cause inherited diseases, including sickle ...
Acoramidis significantly reduced all-cause mortality in both wild-type and variant amyloid cardiomyopathy through 42 months of the ATTRibute-CM study. The study demonstrated consistent efficacy in ...
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