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...

Somatic CAG Repeat Instability in Intermediate Alleles of the HTT Gene and its Potential Association with a Clinical Phenotype

Medicine, Neurology, Life Sciences, Cell Biology, Genetics,
Huntington Disease   CAG Repeat   Somatic Instability   Intermediate Alleles   Neurocognitive Symptoms  

Potential Association between Somatic CAG Repeat Instability in HTT Intermediate Alleles and Clinical Phenotype Research Background Huntington’s disease (HD) is a neurodegenerative disorder caused by the expansion of CAG trinucleotide repeats (≥36 CAG repeats) in the HTT gene. Intermediate alleles (IAs) with 27-35 CAG repeats are generally not cons...

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...

Expanded Phenotypic Spectrum of Neurodevelopmental and Neurodegenerative Disorder Bryant-Li-Bhoj Syndrome with 38 Additional Individuals

Medicine, Neurology, Life Sciences, Genetics,
Bryant-Li-Bhoj Syndrome   Phenotypic Spectrum   Neurodevelopmental Disorder   Neurodegenerative Disorder   H3.3  

Many Scientists Discover Expansion of Phenotypic Spectrum in Bryant-Li-Bhoj Syndrome Research Background Bryant-Li-Bhoj Syndrome (BLBS) was classified by OMIM in 2022 (OMIM: 619720, 619721), caused by germline variants in the H3.3 (H3F3A and H3F3B) genes. This syndrome is characterized by developmental delay/intellectual disability, craniofacial an...