Defining the Variant-Phenotype Correlation in Patients Affected by Noonan Syndrome with the RAF1:c.770C>T p.(Ser257Leu) Variant

Medicine, Pediatrics, Neurology, Cardiovascular System, Life Sciences, Genetics,
RAF1 gene   Noonan Syndrome   Hypertrophic cardiomyopathy   Phenotype correlation   Neonatal   Early intervention   Mortality rate  

Phenotypic Correlation Study of RAF1:c.770C>T p.(Ser257Leu) Variant in Noonan Syndrome Patients Academic Background Noonan syndrome (NS) is one of the most common RASopathies, primarily caused by the upregulation of RAS protein and mitogen-activated protein kinase (MAPK) signaling pathways. These disorders are characterized by facial dysmorphism, c...

COQ7 Defect Causes Prenatal Onset of Mitochondrial CoQ10 Deficiency with Cardiomyopathy

Medicine, Endocrinology, Gastroenterology, Cardiovascular System, Life Sciences, Genetics,
COQ7 gene   Mitochondrial CoQ10 deficiency   Cardiomyopathy   Gastrointestinal obstruction   Familial genetics   Therapeutic intervention   Prenatal onset  

Perinatal onset of mitochondrial CoQ10 deficiency due to COQ7 defect with cardiomyopathy and gastrointestinal obstruction Background Coenzyme Q10 (CoQ10) is a lipid-soluble molecule with antioxidant properties and a key component in electron transfer during oxidative phosphorylation in mitochondria. CoQ10 deficiency is a rare mitochondrial metaboli...

Validity of European-Centric Cardiometabolic Polygenic Scores in Multi-Ancestry Populations

Medicine, Endocrinology, Cardiovascular System, Life Sciences, Genetics,
Polygenic scores   Cardiometabolic diseases   Genetic risk   Ancestry groups   Health disparities   UK Biobank  

Effectiveness of European-derived Cardiometabolic Polygenic Scores in Multi-ancestral Populations In recent years, Polygenic Scores (PGS) have received widespread attention as a tool for assessing individual genetic risk. However, most existing PGS are based on Genome-Wide Association Studies (GWAS) data from white European populations. This has le...

Clinical Impact of Preemptive Pharmacogenomic Testing on Antiplatelet Therapy in a Real-World Setting

Medicine, Infectious Diseases, Medical Laboratory Science, Neurology, Pharmacy, Cardiovascular System, Life Sciences, Immunology, Genetics,
pharmacogenomics   antiplatelet therapy   CYP2C19   acute coronary syndromes   percutaneous coronary interventions   clinical outcomes   healthcare utilization  

Clinical Impact of Pharmacogenomic Testing on Antiplatelet Therapy Background Pharmacogenomics (PGx) is changing the use of P2Y12 inhibitors (antiplatelet drugs), which are widely used in the treatment of acute coronary syndrome (ACS), neurovascular problems, and vascular diseases. Among them, clopidogrel is a commonly used P2Y12 inhibitor. This pr...

Utilizing a Yeast Genetic Model to Validate the Pathogenicity of ACTA2 Variants Associated with Aortic Aneurysms

Medicine, Cardiovascular System, Life Sciences, Genetics,
ACTA2 gene   aortic aneurysms   yeast genetic model   pathogenicity validation   cytoskeleton   protein  

Pathological Study of a New ACTA2 Mutation Causing Aortic Aneurysm: Validation Using a Yeast Model Research Background Thoracic aortic aneurysm and dissection (TAAD) is a potentially fatal vascular disease with mechanisms that are still not fully understood. The ACTA2 gene encodes α-smooth muscle actin, a key component of the vascular smooth muscle...

Actionability and Familial Uptake Following Opportunistic Genomic Screening in a Pediatric Cancer Cohort

Medicine, Pediatrics, Psychiatry, Oncology, Cardiovascular System, Life Sciences, Genetics,
Opportunistic Genomic Screening   Familial Uptake   Pediatric Cancer   Medical Actionability   Cascade Testing   Genetic Counseling  

Feasibility Study of Opportunistic Genomic Screening in Pediatric Cancer Patients and Its Family Acceptance Research Background With the development and application of genomic medicine, the care for patients with severe diseases is gradually being optimized. Especially in the field of childhood cancer, whole-genome series DNA testing has become an ...