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...

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...

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis

Medicine, Pediatrics, Neurosurgery, Life Sciences, Genetics,
ERF gene   Noonan syndrome   craniosynostosis   developmental delay   facial features  

Correlation between Erf Gene Loss-of-Function Variants and Noonan Syndrome-like Phenotype - With or Without Craniosynostosis Research Background Members of the ETS transcription factor family play a crucial role in RAS-MAPK signal transduction, regulating the expression of “early response” genes and other functionally related genes. Among them, ETS...

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...