Dutch Pharmacogenetics Working Group (DPWG) Guideline for the Gene-Drug Interaction of CYP2C9, HLA-A, and HLA-B with Anti-epileptic Drugs

Medicine, Basic Medical Sciences, Neurology, Pharmacy, Life Sciences, Genetics,
pharmacogenetics   anti-epileptic drugs   CYP2C9   HLA-A   HLA-B   drug interactions   personalized medicine  

Dutch Pharmacogenetics Working Group Guideline for CYP2C9, HLA-A and HLA-B Gene-Drug Interactions with Antiepileptic Drugs Background Pharmacogenetics (PGx) studies how genetic variations affect individual drug responses, aiming to guide drug selection and dosing, optimize drug therapy, prevent adverse drug reactions, and achieve safer and more cos...

POT1 Tumour Predisposition: A Broader Spectrum of Associated Malignancies and Proposal for Additional Screening Program

Medicine, Oncology, Life Sciences, Genetics,
POT1   tumour predisposition   gene variants   screening program   familial cancer   malignancy   chromosome  

POT1 Tumor Susceptibility Research: A Broader Spectrum of Related Malignancies and Recommendations for Additional Screening Plans Research Background POT1 (Protection of Telomeres Protein 1) is an important component of the Shelterin telomere-binding complex, responsible for regulating telomere length. Some pathogenic variants (PVs) of the POT1 gen...

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...

Genome Sequencing Enables Diagnosis and Treatment of SLC5A6 Neuropathy

Medicine, Neurology, Life Sciences, Genetics,
Genome Sequencing   SLC5A6   Neuropathy   Biotin   Metabolic Disorders   Treatment   Health Economics  

Diagnosis and Treatment of SLC5A6-Related Neuropathy: Insights from Genomic Sequencing Academic Background Genomics has always played an important role in the study and treatment of human diseases. The sodium-dependent multivitamin transporter (SMVT) encoded by the SLC5A6 gene is responsible for the uptake of biotin, pantothenic acid, and α-lipoic ...

Study on GABRA4 Gene Mutations and Neurological Phenotypes

Medicine, Basic Medical Sciences, Neurology, Life Sciences, Biochemistry, Genetics, Biophysics,
GABRA4   Neurological Phenotype   Developmental Delay   Behavioral Abnormalities   Epilepsy  

New Scientific Research Reveals Association Between GABRA4 Gene and Neurological Phenotypes Research Background In recent years, significant progress has been made in the study of epilepsy and developmental disorder syndromes associated with single gene mutations. GABAA receptors (gamma-aminobutyric acid sub-type A receptors, GABAARs) are heterogen...