A5077235264- Muscle Physiology and Disorders
- Mitochondrial Function and Pathology
- RNA modifications and cancer
- Tissue Engineering and Regenerative Medicine
- RNA Research and Splicing
- RNA regulation and disease
- Adipose Tissue and Metabolism
- Cardiomyopathy and Myosin Studies
- Neurogenetic and Muscular Disorders Research
- Glioma Diagnosis and Treatment
- Nuclear Structure and Function
- Peroxisome Proliferator-Activated Receptors
- Metabolism and Genetic Disorders
- Radiomics and Machine Learning in Medical Imaging
- Congenital heart defects research
- Silk-based biomaterials and applications
- Cell Adhesion Molecules Research
- Brain Tumor Detection and Classification
- MRI in cancer diagnosis
- Calpain Protease Function and Regulation
- Nutrition, Genetics, and Disease
- Cancer Research and Treatments
- Myxozoan Parasites in Aquatic Species
- Cytomegalovirus and herpesvirus research
- Neurological diseases and metabolism
Shanghai Ocean University
2024
Beijing Children’s Hospital
2022-2024
Capital Medical University
2022-2024
Peking University
2015-2023
Peking University First Hospital
2015-2023
Huazhong University of Science and Technology
2022
State Key Laboratory of Information Engineering in Surveying Mapping and Remote Sensing
2022
Union Hospital
2022
Harbin Medical University
2016
Third Affiliated Hospital of Harbin Medical University
2016
It is believed that breast cancer stem cells (BCSCs), like normal cell counterparts, have the capacity of self-renewal and differentiation. Simultaneously, estrogen receptor (ER)-negative (-) BCSCs are affected by surrounding differentiated ER-positive (+) tumor virtue paracrine signaling within micro-environment. Genistein (GEN), as a sort phytoestrogen, can act on ER+ but role GEN in differentiation neighboring ER- has not been defined. Transwell co-culture system was utilized so to...
Abstract Congenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous conditions. We launched a nationwide study to determine the frequency of CMD in Chinese population assess status diagnosis disease management for China. Cases were chosen from databases 34 tertiary academic hospitals 29 first‐level administrative divisions (provinces, municipalities, autonomous regions, special regions), medical records reviewed confirm diagnoses. The included 409 patients, those...
Abstract Dystroglycanopathy is a group of muscular dystrophies with deficient glycosylation alpha‐dystroglycan (α‐DG). We recruited patients from 36 tertiary academic hospitals in China. In total, 143 genetically diagnosed dystroglycanopathy were enrolled. Of these, limb girdle dystrophy was the most common initial diagnosis (83 patients) and Walker‐Warburg syndrome least (1 patient). patients, mutations FKRP gene prevalent (62 patients), followed by POMT2 , POMT1 (16), POMGNT1 ISPD (14),...
Although recessive mutations in LAMA2 are already known to cause laminin α2-related muscular dystrophy, a rare neuromuscular disorder, large deletions or duplications within this gene not well-characterized. In study, we applied next-generation sequencing-based copy number variation profiling 114 individuals clinically diagnosed with including 96 who harboured and 34 intragenic rearrangements. total, detected 18 distinct variations that have been reported only among Chinese, 10 of which...
To delineate the seizure type, phenotype and V-EEG patterns of dystroglycanopathy (DGP) correlate them with neuroradiological genetic results.Patients seizures were screened from our database January 2010 to March 2021. Detailed clinical information, including brain magnetic resonance imaging (MRI), EEG analysis, was collected.Thirteen patients (15.1%, 13/86) had seizures. Most a severe phenotype. The mean age at first onset 2 years 8 months. most common type generalized tonic-clonic (GTCS),...
The protein O-mannose beta-1,2-N-acetylglucosaminyltransferase 1 (POMGNT1) gene is one of 18 genes involved in the pathogenesis α-dystroglycanopathies(α-DGPs) such as muscle-eye-brain disease (MEB). Our study aimed to retrospectively analyze and characterize clinical genetic features three MEB patients with POMGNT1 mutations. One female two male from unrelated families were diagnosed MEB, manifesting hypotonia at birth, mental retardation, structural brain defects, ocular malformations....
We report an 8-year-old girl with lower limb weakness since birth in whom mitochondrial trifunctional protein (MTP) deficiency, autosomal recessive fatty acid oxidation disorder caused by HADHA or HADHB mutations, had not been definitively diagnosed before she was referred to our hospital. Repeated blood acylcarnitine analysis revealed slightly increased long-chain 3-OH-acylcarnitine levels; electromyography (EMG) suggested peripheral nerve injury; muscle biopsy confirmed a neurogenic lesion...
Fukuyama congenital muscular dystrophy (FCMD) is an autosomal recessive disorder first described by in 1960.1 It typically manifests with generalized muscle weakness and hypotonia from infancy, often requiring assistive devices for mobility. Patients frequently exhibit cognitive deficits, varying degrees of seizures, specific neuroimaging, such as micropolygyria, hydrocephalus, cerebellar malformations. Ocular anomalies including retinal detachment may also arise. The prognosis varies, many...
Long noncoding RNAs (lncRNAs) are crucial regulators of various biological processes. However, it remains unclear how lncRNAs can be involved in the immune response to Nocardia seriolae invasion largemouth bass (Micropterus salmoides). Here we leveraged whole transcriptome RNA-seq technique screen associated with head kidney infected seriolae. A total 5,661 were identified, comprising 2,427 known and 3,234 novel lncRNAs. Among these, 531 found differentially expressed, 213 showing increased...
In this study, the diagnostic performance of histogram features APT, DTI and DSC in predicting IDH mutation MGMT promoter methylation status gliomas was compared. Secondly, parameters from signal-time intensity curve significantly improved predictive model. Most importantly, combined logistic regression model with can evaluate tumor nature glioma more comprehensively obtain better performance, which is expected to become an imaging molecular marker for prediction genotyping future.
Mitochondrial trifunctional protein (MTP) is a multienzyme complex, which catalyzes the last three steps of mitochondrial β-oxidation long-chain fatty acids. Structurally, MTP consists four α-subunits and β-subunits, are encoded by HADHA gene (OMIM 600890) HADHB 143450), respectively. Mutations in or lead to varying degrees decline activity, that turn results types clinical manifestations: severe phenotype with neonatal onset, hepatic infantile neuromyopathic later onset.[1] The type mildest...
POMGNT1 , encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase 1, is one of the genes responsible for dystroglycanopathy (DGP), which includes multiple phenotypes such as muscle-eye-brain disease (MEB), congenital muscular dystrophy with intellectual disability, and limb-girdle Here, we report a case MEB that result homozygous variant revealed through uniparental disomy (UPD). An 8-month-old boy was admitted mental motor retardation, hypotonia, esotropia, early onset severe...
Objective To summarize the clinical features of 22 probands diagnosed with congenital muscular dystrophy (CMD), and to provide genetic counseling prenatal diagnosis for 23 fetuses these pedigrees. Methods Data CMD patients who were treated in Pediatric Department Peking University First Hospital during October 2006 March 2016 analyzed. Informed written consents participation this study obtained from parents or guardians. Prenatal was performed using DNA samples extracted fetal villus...
Objective: To explore the clinical, pathological and genetic characteristics of early-onset facioscapulohumeral muscular dystrophy type 1 (FSHD1), in order to increase awareness disease. Methods: In this retrospective study, history 3 patients, who were diagnosed with FSHD1 by molecular test Pediatric Outpatient Department Peking University First Hospital from 4(th) June 2012 2018, collected. Their clinical data, genotypes, phenotypes features muscle biopsy analyzed. Results: All three...