A5076176702- Pluripotent Stem Cells Research
- Parkinson's Disease Mechanisms and Treatments
- CRISPR and Genetic Engineering
- Wound Healing and Treatments
- Genetic Neurodegenerative Diseases
- RNA regulation and disease
- Genetics and Neurodevelopmental Disorders
- Nuclear Receptors and Signaling
- Hair Growth and Disorders
- Mesenchymal stem cell research
- Neuroscience and Neural Engineering
- Biomedical Ethics and Regulation
- Alzheimer's disease research and treatments
- Dermatologic Treatments and Research
- Mitochondrial Function and Pathology
- Cardiac electrophysiology and arrhythmias
- Cardiovascular Effects of Exercise
- Cholinesterase and Neurodegenerative Diseases
- RNA Interference and Gene Delivery
- Tissue Engineering and Regenerative Medicine
- Neurological diseases and metabolism
- Neuroinflammation and Neurodegeneration Mechanisms
- Wnt/β-catenin signaling in development and cancer
- Skin and Cellular Biology Research
- Ion channel regulation and function
First Affiliated Hospital of Henan University
2024-2025
First Affiliated Hospital of Zhengzhou University
2022-2025
Duke-NUS Medical School
2023
Singapore General Hospital
2014-2023
Taiyuan University of Technology
2023
National University of Singapore
2022
National Heart Centre Singapore
2011-2018
Yanan University Affiliated Hospital
2008
Chinese Academy of Medical Sciences & Peking Union Medical College
2002
AimsArrhythmogenic right ventricular cardiomyopathy (ARVC) is a primary heart muscle disorder associated with sudden cardiac death. Its pathophysiology still poorly understood. We aimed to produce an in vitro cellular model of ARVC using patient-specific induced pluripotent stem cell (iPSC)-derived cardiomyocytes and determine whether the could recapitulate key features disease phenotype.
Abstract Introduction Type 1 long QT syndrome (LQT1) is a common type of cardiac channelopathy associated with loss-of-function mutations KCNQ1 . Currently there lack drugs that target the defected slowly activating delayed rectifier potassium channel (IKs) With LQT1 patient-specific human induced pluripotent stem cell (hiPSC)-derived cardiomyocytes (hiPSC-CMs), we tested effects selective IKs activator ML277 on reversing disease phenotypes. Methods A family novel heterozygous exon 7...
The presence of Notch homolog 2 N-terminal-like C (NOTCH2NLC) repeat expansions are associated with neuronal intranuclear inclusion body disease (NIID), varied neurological signs, including neuropathy, ataxia, parkinsonism, and tremor. To date, genetic screening NOTCH2NLC GGC repeats in a cohort typical Parkinson (PD) appears not to have been reported.To investigate if present patients PD controls.This case-control study was conducted tertiary movement disorder centers Singapore....
Coiled-coil-helix-coiled-coil-helix domain containing protein 2 (CHCHD2) mutations were linked with autosomal dominant Parkinson's disease (PD) and recently, Alzheimer's disease/frontotemporal dementia. In the current study, we generated isogenic human embryonic stem cell (hESC) lines harboring PD-associated CHCHD2 mutation R145Q or Q126X via clustered regularly interspaced short palindromic repeats (CRISPR)-CRISPR-associated 9 (Cas9) method, aiming to unravel pathophysiologic mechanism seek...
CGG/GGC repeat expansion in FMR1 and NOTCH2NLC is reportedly associated with movement disorders; therefore, we hypothesized that the CGG LRP12, NUTM2B-AS1, GIPC1, which was previously identified myopathy, might also be movement-disorder phenotypes. Here, investigated whether GIPC1 presents a cohort of patients disorders.We screened for 1,346 1,451 matched healthy controls.No or controls harbored expanded repeats LRP12 whereas 16 >40 11 these harboring >60 repeats. One control individual an...
Aging | doi:10.18632/aging.205444. Jing-Jing Shi, Cheng-Yuan Mao, Ya-Zhou Guo, Yu Fan, Xiao-Yan Hao, Shuang-Jie Li, Jie Tian, Zheng-Wei Hu, Meng-Jie Jia-Di Dong-Rui Ma, Meng-Nan Chun-Yan Zuo, Yuan-Yuan Liang, Yu-Ming Xu, Jian Yang, Chang-He Shi
Abstract The carboxyl terminus of Hsc70-interacting protein (CHIP) is pivotal for managing misfolded and aggregated proteins via chaperone networks degradation pathways. In a preclinical rodent model CHIP-related ataxia, we observed that CHIP mutations lead to increased levels phosphodiesterase 9A (PDE9A), whose role in this context remains poorly understood. Here, investigated the molecular mechanisms underlying PDE9A ataxia demonstrated binds PDE9A, facilitating its polyubiquitination...
Background The glymphatic system plays a crucial role in clearing metabolic waste from the brain, facilitating exchange between cerebrospinal fluid and interstitial fluid, supporting brain homeostasis. However, quantifying function has been challenging. Diffusion Tensor Imaging Along Perivascular Space (DTI-ALPS) method offers non-invasive approach to assess by calculating an index that reflects mobility within brain. This study aimed identify genetic variants associated with ALPS explore...
Abstract Induced pluripotent stem cells (iPSCs) derived from somatic of patients can be a good model for studying human diseases and future therapeutic regenerative medicine. Current initiatives to establish iPSC (hiPSC) banking face challenges in recruiting large numbers donors with diverse diseased, genetic, phenotypic representations. In this study, we describe the efficient derivation transgene-free hiPSCs finger-prick blood. Finger-prick sample collection performed on “do-it-yourself”...
Abstract GGC repeat expansion in the 5′ untranslated region (UTR) of NOTCH2NLC is associated with a broad spectrum neurological disorders, especially neuronal intranuclear inclusion disease (NIID). Studies have found that induces formation polyglycine (polyG)-containing protein, which involved inclusions. However, mechanism neurotoxicity induced by repeats unclear. Here, we used NIID patient-specific pluripotent stem cell (iPSC)-derived 3D cerebral organoids (3DCOs) and cellular models to...
Recent work has focused on the hair follicle as main repository of multipotent stem cells in skin, which is a neat model to study mechanisms regulating proliferation, migration and final fate adult cells. This review examines available literature for its location, molecular markers multipotency.Peer-reviewed journals monographs subject were covered.With application cell-labelling techniques clonogenicity assay, it clear that most are located at bulge region, but base does contain some...
Background The peripheral immune system is altered in Parkinson’s disease (PD), but the causal relationship between two remains controversial. In this study, we aimed to estimate features and PD using a two-sample Mendelian randomization (MR) approach. Methods Genome-wide association study (GWAS) data of blood signatures from European populations were used for exposure summary statistics as results. We conducted MR inverse-variance weighted (IVW), MR-Egger, median methods evaluate these...
Abstract Brugada syndrome (BrS) is an inherited cardiac arrhythmia commonly associated with SCN5A mutations, yet its ionic mechanisms remain unclear due to a lack of cellular models. Here, we used human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) from BrS patient (BrS1) evaluate the roles Na + currents ( I ) and transient outward K in action potential (AP) changes. To understand role these current changes repolarization employed dynamic clamp “electronically express” K1...
Background: A high level of education or intelligence (IQ) is reported to be a risk factor for Parkinson’s disease (PD). The purpose this study was systematically examine the causal relationships between IQ, educational attainment (EA), cognitive performance, and PD. Methods: We used summary statistics from genome-wide association studies on EA, Four (GWAS) data PD were comprehensively explore relationship, including GWAS (regardless sex), age at onset GWAS, male with female data. conducted...