Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10924085 | PMC |
| http://dx.doi.org/10.1038/s41431-023-01506-6 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Genetic analysis of patients with low-frequency non-syndromic hearing loss.
Mol Genet Genomics
December 2024
ENT Institute and Department of Otorhinolaryngology, Eye & ENT Hospital, Fudan University, 83 Fen Yang Road, Shanghai, 200031, China.
Low-frequency non-syndromic hearing loss (LFNSHL) is a rare auditory disorder affecting frequencies ≤ 2000 Hz. To elucidate its genetic basis, we conducted whole-exome sequencing on nine Chinese families (31 affected individuals) with LFNSHL. Four heterozygous pathogenic variants, including two novel variants, were identified in common LFNSHL-related genes (WFS1, DIAPH1) and less common genes (TNC, EYA4), achieving a 44% genetic diagnosis rate.
View Article and Find Full Text PDFAntibiotic susceptibility testing and molecular characterization based on whole-genome sequencing of isolates from pediatric infections at the National Regional Medical Center of Southwest China during the COVID-19 pandemic.
Front Public Health
December 2024
Department of Laboratory Medicine, West China Second University Hospital, Sichuan University, Chengdu, China.
Background: is a transmitted respiratory pathogen that causes high morbidity and mortality in children, especially those under 5 years of age. During the implementation of population control measures for COVID-19 in mainland China, the detection rate in pediatric patients decreased. However, with the second wave of the COVID-19 pandemic (2022), the incidence of pneumococcal disease (PD) and even invasive pneumococcal disease (IPD) began to rise again.
View Article and Find Full Text PDFNeuroprotective effects of Apigenin on prenatal Valproic acid-induced autism spectrum disorder in rats.
IBRO Neurosci Rep
December 2024
Physiology Research Center, Iran University of Medical Sciences, Tehran, Iran.
Unlabelled: Valproic acid (VPA) demonstrates teratogenic effects during pregnancy. Prenatal exposure to VPA may result in autism spectrum disorder (ASD) -like phenotypes. Apigenin, a natural flavonoid, has been shown to have neuroprotective impacts due to its antioxidant properties.
View Article and Find Full Text PDFBiallelic variants in the cause mitochondrial respiratory complex assembly defects associated with Leigh syndrome in probands.
Mol Genet Metab Rep
December 2024
Eye Center, the Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
Background: Variants in have been reported to be associated with Leigh syndrome. However, further expansion of the -phenotype and variants spectrum of -related Leigh syndrome are still required.
Methods: Two patients diagnosed with Leigh syndrome were recruited, and whole-exome sequencing was performed to identify the genetic variants responsible for the abnormal gait, dystonia, and bilateral basal ganglia lesions, followed by validation using Sanger sequencing.
The fruit fly as a screening model for antiseizure medications.
Front Pharmacol
December 2024
Department of Epileptology and Neurology, RWTH Aachen University, Aachen, Germany.
Objective: Resistance to antiseizure medications (ASMs) is a major challenge in the treatment of patients with epilepsy. Despite numerous newly marketed ASMs, the proportion of drug-resistant people with epilepsy has not significantly decreased over the years. Therefore, novel and innovative seizure models for preclinical drug screening are highly desirable.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!