A5100717450- Neurogenetic and Muscular Disorders Research
- Hereditary Neurological Disorders
- Neurological diseases and metabolism
- RNA modifications and cancer
- RNA Research and Splicing
- Endoplasmic Reticulum Stress and Disease
- Mitochondrial Function and Pathology
- CRISPR and Genetic Engineering
- Muscle Physiology and Disorders
- Cellular transport and secretion
- Pluripotent Stem Cells Research
- Genetic Neurodegenerative Diseases
- Genetics and Neurodevelopmental Disorders
- Ubiquitin and proteasome pathways
- Metabolism and Genetic Disorders
- Peroxisome Proliferator-Activated Receptors
- Cardiac Structural Anomalies and Repair
- Autophagy in Disease and Therapy
- Cytomegalovirus and herpesvirus research
- Adenosine and Purinergic Signaling
- Nerve injury and regeneration
- Hymenoptera taxonomy and phylogeny
- HER2/EGFR in Cancer Research
- Lysosomal Storage Disorders Research
- Renal Transplantation Outcomes and Treatments
First Affiliated Hospital of Fujian Medical University
2013-2024
Fujian Medical University
2013-2024
Wuhan University
2018-2024
Renmin Hospital of Wuhan University
2024
Jiangsu Hengrui Medicine (China)
2023
University of Hong Kong
2023
New Jersey Institute of Technology
2023
Shanghai Clinical Research Center
2023
Wuyi University
2022
Hubei University
2021
Abstract Colorectal cancer is one of the most common cancers in world. Although genomic mutations and single nucleotide polymorphisms have been extensively studied, epigenomic status colorectal patient tissues remains elusive. Here, together with transcriptomic analysis, we use ChIP-Seq to profile active enhancers at genome wide level paired (tumor adjacent from same patients). In total, sequence 73 pairs generate 147 H3K27ac ChIP-Seq, 144 RNA-Seq, whole sequencing 86 H3K4me3 samples. Our...
Gastric cancer (GC) is a common malignant tumor of the digestive tract, and chemoresistance significantly impacts GC patients' prognosis. PANoptosis has been associated with oxaliplatin-induced cell death. However, direct regulatory role YBX1 in cellular through remains unclear. In this study, we investigated impact on regulating its influence resistance gastric cells to oxaliplatin. Through overexpression silencing experiments, assessed YBX1's effect proliferation regulation cells....
Hereditary spastic paraplegias (HSP) is a heterogeneous group of rare neurodegenerative disorders affecting the corticospinal tracts. To date, more than 78 HSP loci have been mapped to cause HSP. However, both clinical and mutational spectrum Chinese patients with remained unclear. In this study, we aim perform comprehensive analysis phenotypes genetic distributions in large cohort patients, elucidate primary pathogenesis population. We firstly performed next-generation sequencing targeting...
SPOP is one of the important subunits for CUL3/SPOP/RBX1 complex tightly connected with tumorigenesis. However, its exact roles in different cancers remain debatable. Here, we identify CYCLIN E1, as a novel substrate SPOP. directly interacts E1 and specific regulates stability prostate cancer cell lines. SPOP/CUL3/RBX1 through poly-ubiquitination. CDK2 competes interaction, suggesting that probably CDK2-free E1. expression rescued proliferation, migration, tumor formation suppressed by...
Abstract Hereditary spastic paraplegias refer to a heterogeneous group of neurodegenerative disorders resulting from degeneration the corticospinal tract. Clinical characterization patients with hereditary represents progressive spasticity, exaggerated reflexes and muscular weakness. Here, expand on increasingly broad pools previously unknown paraplegia causative genes subtypes, we performed whole exome sequencing for six affected two unaffected individuals unrelated Chinese families an...
We here report a genome-editing strategy to correct spinal muscular atrophy (SMA). Rather than directly targeting the pathogenic exonic mutations, our employed Cas9 and guide-sgRNA for targeted disruption of intronic splicing-regulatory elements. disrupted splicing silencers (ISSs, including ISS-N1 ISS + 100) survival motor neuron (SMN) 2, key modifier gene SMA, enhance exon 7 inclusion full-length SMN expression in SMA iPSCs. Survival splicing-corrected iPSC-derived neurons was rescued with...
Intricate cerebral cortex formation is orchestrated by the precise behavior and division dynamics of radial glial cells (RGCs). Endocytosis functions in recycling remodeling adherens junctions (AJs) response to changes RGC activity function. Here, we show that conditional disruption ubiquitin-associated protein 1 (UBAP1), a component endosomal sorting complex required for transport (ESCRT), causes severe brain dysplasia prenatal ventriculomegaly. UBAP1 depletion disrupts AJs polarity RGCs,...
Spinal muscular atrophy (SMA) is a lethal autosomal recessive neurological disease characterized by selective degeneration of motor neurons in the spinal cord. In recent years, development cellular reprogramming technology has provided an alternative and effective method for obtaining patient-specific vitro. present study, we applied this to field SMA acquire induced that were directly converted from fibroblasts via forced expression 8 defined transcription factors. The infected began grow...
Abstract Background Hereditary spastic paraplegias (HSP) are neurologic disorders characterized by progressive lower‐extremity spasticity. Despite the identification of several HSP‐related genes, many patients lack a genetic diagnosis. Objectives The aims were to confirm pathogenic role biallelic COQ4 mutations in HSP and elucidate clinical, genetic, functional molecular features ‐associated HSP. Methods Whole exome sequences 310 index with unknown cause from three distinct populations...
// Xiang Lin 1, * , Jin-Jing Li Wen-Jing Qian 2, Qi-Jie Zhang 1 Zhong-Feng Wang 2 Ying-Qian Lu En-Lin Dong Jin He Ning Li-Xiang Ma 3 and Wan-Jin Chen 4 Department of Neurology Institute Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou 350005, China Institutes Brain Science, Neurobiology, State Key Laboratory Collaborative Innovation Center for Fudan Shanghai 200032, Anatomy, Histology & Embryology, College, Molecular These authors have contributed equally to this work...
Abstract Objective Recessive mutations in the CAPN1 gene have recently been identified spastic paraplegia 76 (SPG76), a complex hereditary (HSP) that is combined with cerebellar ataxia, resulting an ataxia‐spasticity disease spectrum. This study aims to assess influence of variants on occurrence SPG76 and identify factors potentially contributing phenotypic heterogeneity. Methods We screened cohort 240 unrelated HSP families for using high‐throughput sequencing analysis. described detail...
Non-small cell lung cancer (NSCLC) with HER2 mutation has entered into the era of targeted therapy. However, both anti-HER2 antibody-drug conjugates (ADCs) and tyrosine kinase inhibitors (TKIs) showed moderate objective response rate (ORR) median progression-free survival (PFS). The aim this study was to investigate molecular features responders pyrotinib in advanced NSCLC mutation. Patients from our two previous phase II trials were pooled analyzed. Their circulating tumor DNA (ctDNA)...
The human iPS cell line, hiPS-SPG76 (FJMUi001-A), derived from skin fibroblasts a 42-year-old male hereditary spastic paraplegia patient carrying compound heterozygous p.P498L (c.1493C > T) and p.R618W (c.1852C mutations in the CAPN1 gene, was generated by non-integrative reprogramming vectors encoding OCT3/4, SOX2, KLF4, c-MYC. established free of genomically integrated genes, had normal karyotype, expressed pluripotency markers, capacity to form three germ layers vitro vivo. This hiPS line...
Spinal muscular atrophy with respiratory distress type 1 (SMARD1), a notably common form of non-5q-spinal atrophy, can be confused infantile spinal and is characterized by the early onset diaphragmatic palsy predominantly distal muscle weakness. The defective gene, immunoglobulin mu-binding protein 2 ( IGHMBP2), located on chromosome 11q13-q21. In this study, we screened IGHMBP2 gene in 53 unrelated Han Chinese patients 100 healthy controls. Two novel mutations (c.711+1G>C c.1817G>A) 5...
Many major inherited neurological disorders are characterized by early childhood onset, high lethality rate, and the absence of effective treatments. A poor understanding underlying mechanisms such is partly because scarcity patient-specific samples. In this study, we cultured urine sediments patients, aiming to explore capacity cell cultures obtain specimens from patients suffering rare diseases. We collected fresh a variety neurogenetic patients; specimens; generated different lines;...
Spinal muscular atrophy (SMA) is a lethal childhood neurodegenerative disorder that caused by the homozygous deletion of survival motor neuron 1 (SMN1). To date, no effective treatments are available. In current study, urine cells taken from SMA patients were cultured and application patient-derived was determined in drug intervention. A total 13 cell lines 40 control established. SMN highly expressed nucleus cytoplasm. Patient-derived low levels protein compared with controls, they...