A5101786752- Genetics and Neurodevelopmental Disorders
- Obsessive-Compulsive Spectrum Disorders
- RNA regulation and disease
- melanin and skin pigmentation
- Multiple Sclerosis Research Studies
- Hereditary Neurological Disorders
- Eating Disorders and Behaviors
- Heme Oxygenase-1 and Carbon Monoxide
- RNA and protein synthesis mechanisms
- Genomic variations and chromosomal abnormalities
- Peripheral Neuropathies and Disorders
- High Altitude and Hypoxia
- Vitamin D Research Studies
- Pluripotent Stem Cells Research
- Genomics and Rare Diseases
- Restraint-Related Deaths
- CRISPR and Genetic Engineering
- Medicinal Plant Extracts Effects
Shanghai Children's Hospital
2020-2022
Shanghai Jiao Tong University
2022
Tongji University
2022
Children's Hospital of Fudan University
2022
Abstract Background Research on myelin oligodendrocyte glycoprotein antibody (MOG-Ab)-associated disease (MOGAD) among Chinese children is relatively rare. Therefore, this study aimed to explore and analyze the clinical characteristics prognoses of with acquired demyelinating syndromes (ADSs) who tested positive or negative for MOG-Ab. Methods The data MOGAD were treated in Department Neurology at Shanghai Children's Hospital from January 2017 October 2021 retrospectively collected. Results...
Background: The chromodomain helicase DNA-binding protein 2 (CHD2) gene, is an ATPase and part of the CHD family chromatin remodelers. Mutations in CHD2 gene are inherited autosomal-dominant manner can lead to intellectual disability, epilepsy, autism. We investigated clinical characteristics CHD2-related conditions their possible pathogenesis. Methods: collected analysed data patients that were identified as having mutations. Genetic testing was performed using targeted sequencing or...
To explore the correlation between serum 25-hydroxyvitamin D levels and tic disorders (TDs) in Chinese children.We selected 2960 children with TD 2665 healthy controls, aged 5-14 years, from Department of Neurology Shanghai Children's Hospital. Serum degrees vitamin deficiency were compared patients children.The mean level group was significantly lower than that control (P < 0.001). The proportion higher group. However, there no severity TD. In addition, for age-wise comparison, its most...
Epilepsy of infancy with migrating focal seizures (EIMFS) is a kind epileptic encephalopathy high genetic heterogeneity. The most common pathogenic gene for EIMFS potassium sodium-activated channel subfamily T member 1 (KCNT1). Using Sendai virus-mediated reprogramming, we established an induced pluripotent stem cell (iPSC) line from the peripheral blood mononuclear cells (PBMCs) five-month-old Chinese girl heterozygous missense mutation (c.2800 G>A) in KCNT1 gene. iPSCs were stable during...
High-altitude pulmonary edema (HAPE) is a serious life-threatening disease that occurs after rapid ascent to high altitude; its main early-stage presentations include fatigue, headache, low-grade fever, dyspnea, and cough. X-ray computed tomography (CT) images show shadows patches, which may be localized (initial right lung field predomination) or generalized the bilateral base.
Abstract Background Diagnoses of vanishing white matter disease (VWMD) were difficult due to variable clinical features, severity, age onset and wide range mutations in eIF2G genes which cause VWMD. This study reported two novel eIF2B associated with VWMD expand our understanding Case presentation Relevant data from diagnoses genetic mutational analyses Chinese female patients sporadic collected analyzed. Protein structure/function was predicted. The identity biological parents confirmed...
Abstract Glioblastoma multiforma (GBM) is the most malignant intrinsic tumor of central nervous system (CNS), with high morbidity 3.19/100,000 per year and a poor 5-year survival rate (< 5%) in worldwide. Numerous studies have indicated that GBM shows remarkable radioresistance aggressive recurrence. However, mechanisms to endow cells are complex unclear. Cell growth curve Colony formation assay were used analyzed radio-resistance GBM. Immunoprecipitation immunoblotting experiments...