A5101724394- RNA regulation and disease
- RNA Research and Splicing
- Connexins and lens biology
- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- Congenital heart defects research
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- RNA and protein synthesis mechanisms
- Mitochondrial Function and Pathology
- interferon and immune responses
- Plant and Fungal Interactions Research
- Aluminum toxicity and tolerance in plants and animals
- Folate and B Vitamins Research
- Bartonella species infections research
- Neuroinflammation and Neurodegeneration Mechanisms
- Galectins and Cancer Biology
- Fetal and Pediatric Neurological Disorders
- Prenatal Screening and Diagnostics
- Cellular transport and secretion
- Phytoplasmas and Hemiptera pathogens
- Trace Elements in Health
- Neurogenesis and neuroplasticity mechanisms
- Cytomegalovirus and herpesvirus research
- Cocoa and Sweet Potato Agronomy
Gannan Normal University
2024
Xiangya Hospital Central South University
2024
Central South University
2024
Peking University
2014-2023
Peking University First Hospital
2014-2023
Children's Hospital of Zhejiang University
2019
Hypomyelinating leukodystrophies (HLDs) are a rare group of disorders characterized by myelin deficit the brain-based on MRI. Here, we studied 20 patients with unexplained HLD to uncover their genetic etiology through whole-exome sequencing (WES). Trio-based WES was performed for unresolved HLDs families after tests PLP1 duplication and panel 115 known leukodystrophy-related genes. Variants in both genes that related promising candidate were analyzed. Minigene splicing assay conducted...
Objective Hypomyelinating disorders are a group of clinically and genetically heterogeneous diseases characterized by neurological deterioration with hypomyelination visible on brain MRI scans. This study was aimed to clarify the clinical genetic features HMDs in Chinese population. Methods 119 patients hypomyelinating population were enrolled evaluated based their history, manifestation, laboratory examinations, series follow-up, etiological tests including chromosomal analysis, multiplex...
Intellectual disability/developmental delay is a complex condition with extraordinary heterogeneity. A large proportion of patients lacks specific diagnosis. Next generation sequencing, enabling identification genetic variations in multiple genes, has become an efficient strategy for analysis intellectual delay. Clinical data 112 Chinese families unexplained was collected. Targeted next sequencing 454 genes related to performed all index patients. Patients promising variants and their other...
Genomic disorders are the clinical conditions manifested by submicroscopic genomic rearrangements including copy number variants (CNVs). The CNVs can be identified array-based comparative hybridization (aCGH), most commonly used technology for molecular diagnostics of disorders. However, aCGH only informs in probe-interrogated regions. Neither orientational information nor resulting rearrangement structure is provided, which a key to uncovering mutational and pathogenic mechanisms underlying...
BACKGROUND: Clinical and genetic features were analyzed in five pedigrees with Pelizaeus-Merzbacher-like disease (PMLD) to provide bases for counseling prenatal diagnosis.METHODS: data including medical history, physical signs, auxiliary examinations collected from six patients their family numbers PMLD. Polymerase chain reaction sequence analysis used amplify GJC2 PLP1 alterations, while multiplex ligation-dependent probe amplification (MLPA) was performed detect dosage changes. The gene...
Abstract Background The natural history and genotype–phenotype correlation of Pelizaeus–Merzbacher disease (PMD) Chinese patients has been rarely reported. Method Patients who met the criteria for PMD were enrolled in our study. Genomic analysis was conducted by multiplex ligation probe amplification (MLPA) Sanger or whole-exome sequencing (WES). Natural differences correlations analyzed. Result A total 111 follow-up median interval 53 m (1185). Among patients, developmental delay most...
Among the hypomyelinating leukodystrophies, Pelizaeus–Merzbacher disease (PMD) is a representative disorder. The caused by different types of PLP1 mutations, among which duplication accounts for ∼70% mutations. Previous studies have shown that duplications lead to retention in endoplasmic reticulum (ER); parallel, recent demonstrated can also mitochondrial dysfunction. As such, respective roles and interactions ER mitochondria pathogenesis are not clear. In both patients' healthy...
Citrus huanglongbing (HLB) is a devastating disease for citrus production, largely caused by the Asian psyllid (ACP). Poncirus trifoliata exhibits high resistance to ACP; however, this weakened when C. sinensis co-cultivated. This study aimed identify differentially expressed genes (DEGs) during ACP feeding and uncover potential in P. trifoliata. In comparison independent cultivation, 1247 205 DEGs were identified co-cultivated with after 7 14 days, respectively. Analysis of enriched Gene...
Mechanically activated (MA) ion channels convert physical forces into electrical signals. Despite the importance of this function, involvement mechanosensitive in human disease is poorly understood. Here we report heterozygous missense mutations gene encoding MA channel TMEM63A that result an infantile disorder resembling a hypomyelinating leukodystrophy. Four unrelated individuals presented with congenital nystagmus, motor delay, and deficient myelination on serial scans infancy, prompting...
Objective To analyze the clinical data and TUBB4A mutation of hypomyelination with atrophy basal ganglia cerebellum (HABC) in a family, thus to provide accurate genetic counseling prenatal diagnosis for this family HABC, also experience HABC China. Methods The proband her members were collected at Department Pediatrics, Peking University First Hospital, December 2014, including medical history, physical signs, brain MRI, biochemical tests metabolic disease screening.The associated...
Objective To diagnose etiologically about 30 children with idiopathic intellectual disability/deve-lopment delay(ID/DD) through clinical and genetic analysis. Methods Clinical data from enrolled subjects were collected.Blood biochemical examination, screening for inherited metabolic disease, karyotype analysis, multiplex ligation-dependent probe amplification(MLPA), targeted next-generation sequencing (targeted NGS) comprehensive chromosomal microarray analysis(CMA) performed based on...
Objective To analyze the clinical and molecular genetic features in 6 pedigrees with GM1 ganglio-sidosis. Methods Clinical data of patients gangliosidosis were collected from April 2014 to August 2015 Department Pediatrics, Peking University First Hospital.Lysosomal enzyme assays for examining its activity white blood cell used characteristics.Lysosomal examine mutation β-galactosidase-1(GLB1). Polymerase chain reaction (PCR) Sanger sequencing detect GLB1 mutations...
Abstract Among the hypomyelinating leukodystrophies, Pelizaeus–Merzbacher disease (PMD) is a representative disorder. The caused by different types of PLP1 mutations, among which duplication accounts for ~ 70% mutations. Previous studies have shown that duplications lead to retention in endoplasmic reticulum (ER); parallel, recent demonstrated can also mitochondrial dysfunction. As such, respective roles and interactions ER mitochondria pathogenesis are not clear. In both patients’ healthy...