A5101561624- Retinal Development and Disorders
- Epilepsy research and treatment
- Glycogen Storage Diseases and Myoclonus
- Blood Pressure and Hypertension Studies
- Cervical and Thoracic Myelopathy
- Retinal Diseases and Treatments
- Immune responses and vaccinations
- T-cell and B-cell Immunology
- Vestibular and auditory disorders
- Spine and Intervertebral Disc Pathology
- Geriatric Care and Nursing Homes
- Genetics and Neurodevelopmental Disorders
- Solid-state spectroscopy and crystallography
- Electrochemical Analysis and Applications
- Drug Transport and Resistance Mechanisms
- melanin and skin pigmentation
- Hormonal Regulation and Hypertension
- Pluripotent Stem Cells Research
- CRISPR and Genetic Engineering
- Pregnancy-related medical research
- Peptidase Inhibition and Analysis
- Frailty in Older Adults
- Cytomegalovirus and herpesvirus research
- Cardiac tumors and thrombi
- Cell death mechanisms and regulation
Capital Medical University
2017-2023
Shandong University
2023
Beijing Friendship Hospital
2023
Kunming Medical University
2022
Yan'an Hospital Affiliated To Kunming Medical University
2022
Beijing Tongren Hospital
2017-2021
Hunan Normal University
2021
Hunan Provincial People's Hospital
2021
Linyi People's Hospital
2019-2020
Qilu Hospital of Shandong University
2019-2020
Mutations in the BEST1 gene can cause Best vitelliform macular dystrophy (BVMD) and autosomal recessive bestrophinopathy (ARB). The aim of current study was to establish mutation spectrum Chinese patients with BVMD ARB describe phenotypic characteristics carrying mutations.A total 37 probands a clinical diagnosis (17 patients) or (20 were recruited for genetic analysis; these, only 5 had family history. All underwent detailed ophthalmic examinations. coding exons exon-intron boundaries...
Abstract A substantial number of mouse genes, about 25%, are embryonically lethal when knocked out. Using current genetic tools, such as the CRISPR-Cas9 system, it is difficult—or even impossible—to produce viable mice with heritable mutations. Here, we establish a one-step method for microinjection CRISPR reagents into one blastomere two-cell embryos to generate chimeric founder mutation, either Virma or Dpm1 . By examining mice, identify phenotype and role in regulating kidney metabolism...
Regulated necrosis (necroptosis) and apoptosis are important biological features of myocardial infarction, ischaemia-reperfusion (I/R) injury, heart failure. However, the molecular mechanisms underlying necroptosis remain elusive. Ischaemic preconditioning (IPC) is most powerful intrinsic cardioprotection against I/R injury. In this study, we aimed to determine whether IPC suppresses I/R-induced mechanisms.
Abstract Mammalian aging is associated with reduced tissue regeneration and loss of physiological integrity. With age, stem cells diminish in their ability to regenerate adult tissues, likely contributing age‐related morbidity. Thus, we replaced aged hematopoietic (HSCs) young‐donor HSCs using a novel mobilization‐enabled cell transplantation (HSCT) technology as an alternative the highly toxic conditioning regimens used conventional HSCT. Using this approach, are first report increase...
Background Anxiety and the physical environment are critical factors influencing frailty among older adults; however, interaction effect of anxiety environment, such as outdoor activity spaces, on has not been examined. This study aimed to investigate spaces identify differences by gender. Methods A total 353 nursing home residents (197 women; 156 men; age ≥ 60 years) from 27 Chinese homes were included in analysis. analyzed using Generalized Disorder Scale FRAIL-NH Scale, respectively....
Abstract Background PCDH19 has become the second most relevant gene in epilepsy after SCN1A . Seizures often provoked by fever. Methods We screened 152 children with fever‐sensitive for detection. Their clinical information was followed up. Results found eight point mutations (four novel and four reported) one whole deletion 10 female probands (seven sporadic cases three family cases) who also had cluster seizures. The common features of 16 patients families included seizures, mainly focal...
Purpose: Congenital nystagmus (CN) is a genetically and clinically heterogeneous ocular disorder that manifests as involuntary, periodic oscillations of the eyes. To date, only FRMD7 GPR143 have been reported to be responsible for causing CN. Here, we aimed identify disease-causing mutations describe clinical features in affected members our study. Methods: All subjects underwent detailed ophthalmic examination. Direct sequencing all coding exons splice site regions mutation assessment were...
Intervertebral disc degeneration (IVDD) is the initiating factor of adult degenerative scoliosis (ADS), and ADS further accelerates IVDD, creating a vicious cycle. Nevertheless, role Wnt/β-Catenin pathway in combined with IVDD (ADS-IVDD) remains mystery. Accordingly, this study was proposed to investigate effect axial stress on nucleus pulposus cells (NPCs) isolated from DS-IVDD patients.Normal NPCs (N-NPC) were purchased young (25-30 years; Y-NPC) old (65-70 O-NPC) ADS-IVDD patients primary...
To figure out which diagnosis is more suitable and antiepileptic drugs are sensitive to epileptic negative myoclonus (ENM) as the first seizure type in atypical benign epilepsy with centrotemporal spikes.We reviewed electroencephalogram (EEG) database of Linyi People's Hospital Affiliated Shandong University medical records patients ENM onset. The characteristics seizures, onset age, treatment process, growth development history, past disease family degree mental deterioration, cranial...
Purpose Primary Pigmented Nodular Adrenocortical Disease (PPNAD) is a rare bilateral adrenocortical hyperplasia, inherited in an autosomal dominant fashion, resulting pro-adrenocorticotropic non-dependent Cushing's syndrome. PPNAD may be isolated or associated with Carney complex (CNC). For the diagnosis of and CNC, search for PRKAR1A mutations recommended addition to hormonal imaging tests. The purpose this study was investigate clinical features, treatment new pathogenic gene causing...