A5072033250- Hereditary Neurological Disorders
- Neurological diseases and metabolism
- Genetic Neurodegenerative Diseases
- RNA Research and Splicing
- Peripheral Neuropathies and Disorders
- Advanced Radiotherapy Techniques
- Neuroinflammation and Neurodegeneration Mechanisms
- Alzheimer's disease research and treatments
- Neurological Disease Mechanisms and Treatments
- Neurogenetic and Muscular Disorders Research
- Amyotrophic Lateral Sclerosis Research
- Influenza Virus Research Studies
- Radiomics and Machine Learning in Medical Imaging
- Histone Deacetylase Inhibitors Research
- interferon and immune responses
- RNA regulation and disease
- Biotin and Related Studies
- Renal cell carcinoma treatment
- Cellular transport and secretion
- RNA modifications and cancer
- Signaling Pathways in Disease
- Pharmacological Receptor Mechanisms and Effects
- Pancreatic and Hepatic Oncology Research
- Microbial Metabolism and Applications
- Digital Radiography and Breast Imaging
Central South University
2016-2025
Third Xiangya Hospital
2016-2025
Donghua University
2025
Xiangya Hospital Central South University
2016-2025
Duke Medical Center
2021
Johns Hopkins Medicine
2019
Johns Hopkins University
2019
Stanford University
2008
Case Western Reserve University
1992-1993
<h3>Objective:</h3> To identify the underlying genetic cause in a consanguineous Chinese family segregating distal hereditary motor neuropathy (dHMN) an autosomal recessive pattern. <h3>Methods:</h3> We used whole-exome sequencing and homozygosity mapping to detect variant 2 affected individuals of with dHMN. RNA analysis peripheral blood leukocytes immunofluorescence immunoblotting stable cell lines were performed support pathogenicity identified mutation. <h3>Results:</h3> 3 shared novel...
The purpose was to provide an overview of genotype and phenotype distribution in a cohort patients with Charcot-Marie-Tooth disease (CMT) related disorders from central south China.In all, 435 were enrolled detailed clinical data collected. Multiplex ligation-dependent probe amplification for PMP22 duplication/deletion CMT multi-gene panel sequencing performed. Whole exome further applied the remaining who failed achieve molecular diagnosis.Among patients, 216 had CMT1, 14 hereditary...
Background Long- and short-term ultraviolet (UV) exposure have distinct biological effects on human fibroblasts. Objectives To elucidate the underlying mechanisms of UV skin Methods We subjected fibroblast cells with or without aquaporin 3 (AQP3), death effector domain-containing protein (DEDD) Beclin1 manipulation to UVA treatment evaluated autophagy senescence in them. Results Short-term irradiation induced upregulated AQP3 but not senescence, whereas long-term inhibited autophagy, trigger...
Alzheimer’s disease (AD) is the most common cause of dementia with no effective therapies. Aging a dominant risk factor for AD. The neurovascular unit (NVU) plays an important role in maintaining homeostasis brain microenvironment. accelerated aging NVU cells may directly impair function and contribute to AD pathogenesis. However, expression patterns aging-related genes (AGs) remain unclear. In this study, we performed single-nucleus transcriptome analysis 61,768 nuclei from prefrontal...
Objective Hereditary transthyretin amyloidosis (ATTRv) is an autosomal dominant genetic disease characterized by the misfolding and deposition of (TTR) protein. This study aimed to describe clinical characteristics ATTRv in a large multicenter Chinese cohort. Methods Patients from 14 centers were included study. The all patients summarized. peripheral blood white cell mitochondrial DNA (mtDNA) was detected offspring different genders. Results A total 202 individuals with 148 families...
ABSTRACT Background and Objectives Hereditary sensory neuropathies (HSNs) are a group of genetically clinically heterogeneous diseases. Our study aims to summarize the genetic clinical features HSNs in 10 Chinese families. Methods Clinical data from families with were collected retrospectively. Genetic screening was performed by whole exome sequencing (WES). Repeated‐primed PCR capillary electrophoresis for WES‐negative patients analyze repeat expansions RFC1 . Results Among probands HSNs,...
Proliferative hepatocellular carcinoma (HCC) is an aggressive phenotype associated with unfavorable clinical outcomes. Predicting the preoperative subtype of HCC can aid in development individualized treatment. We retrospectively recruited 180 patients who underwent hepatic resection and established a CT-based radiomics model for predicting proliferative HCCs. The evaluation tumor response to transarterial chemoembolization therapy progression-free survival (PFS) according was further...
Abstract Charcot‐Marie‐Tooth disease 2A ( CMT2A ), caused by mutations in the mitofusin 2 gene MFN2 is most common CMT2 subtype. The aim of our study to assess frequency and summarize genetic clinical characteristics Chinese patients. A total 17 coding exons were detected direct sequencing 82 unrelated families diagnosed as . Clinical evaluations analyzed among We identified 14 missense variants 9 sporadic 6 familial cases, including four novel T129A , S249F Q367P Q674L 4 known R94W R94Q...
Abstract Distal hereditary motor neuropathy (dHMN) is a clinically and genetically heterogeneous group of inherited neuropathies characterized by distal limb muscle wasting weakness with no or minimal sensory abnormalities. To investigate the clinical genetic features dHMN caused WARS mutations in mainland China, we performed Sanger sequencing coding untranslated region (UTR) regions 160 unresolved Charcot‐Marie‐Tooth (CMT) index patients. We detected novel heterozygous variant c.941A>G...
Abstract Charcot-Marie-Tooth disease is a hereditary motor and sensory neuropathy exhibiting great clinical genetic heterogeneity. Here, the identification of two heterozygous missense mutations in C1orf194 gene at 1p21.2-p13.2 with are reported. Specifically, p.I122N mutation was cause an intermediate form disease, p.K28I predominately led to demyelinating form. Functional studies demonstrated that variant significantly reduced expression protein, but increased. In addition, mutant protein...
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive and selective degeneration of motor neurons in the cortex brain spinal cord. Ferroptosis newly discovered form cell death reported to mediate neuron mouse model ALS. The growing awareness ferroptosis iron metabolism dysfunction ALS prompted us investigate expression pattern metabolism-related genes (FIRGs) Here, we performed conjoint analysis bulk-RNA sequence single-nucleus RNA data using...
Background Epithelial ovarian cancer (EOC) is a significant cause of mortality among gynecological cancers. While Olaparib, PARP inhibitor, has demonstrated efficacy in EOC maintenance therapy, individual responses vary. This study aims to assess the prognostic significance body composition and systemic inflammation markers patients undergoing initial Olaparib treatment. Methods A retrospective analysis was conducted on 133 initiating therapy. Progression-free survival (PFS) assessed through...
Abstract Background and Aims This study aimed to report nine Charcot–Marie–Tooth disease (CMT) families with six novel IGHMBP2 mutations in our CMT2 cohort summarize the genetic clinical features of all AR‐CMT2S patients reported worldwide. Methods General information, neurophysiological data 275 axonal CMT were collected. Genetic screening was performed by inherited peripheral neuropathy related genes panel or whole exome sequencing. The published papers reporting from 2014 2023 searched...