A5030536375- Hereditary Neurological Disorders
- Genetic Neurodegenerative Diseases
- Muscle Physiology and Disorders
- Peripheral Neuropathies and Disorders
- RNA Research and Splicing
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Inflammatory Myopathies and Dermatomyositis
- Kidney Stones and Urolithiasis Treatments
- Electrospun Nanofibers in Biomedical Applications
- Mitochondrial Function and Pathology
- Tissue Engineering and Regenerative Medicine
- RNA regulation and disease
- Ureteral procedures and complications
- Urological Disorders and Treatments
- Pediatric Urology and Nephrology Studies
- Cardiomyopathy and Myosin Studies
- Neurological diseases and metabolism
- Dermatological and Skeletal Disorders
- Nuclear Structure and Function
- Neurogenetic and Muscular Disorders Research
- Cellular transport and secretion
- Glycogen Storage Diseases and Myoclonus
- Peripheral Nerve Disorders
- Parathyroid Disorders and Treatments
- Dialysis and Renal Disease Management
Wuhan University
2011-2025
Renmin Hospital of Wuhan University
2011-2025
Peking University First Hospital
2013-2024
Peking University
2014-2024
Affiliated Hospital of Jining Medical University
2024
Northwestern Polytechnical University
2024
National Health and Family Planning Commission
2023
Nanjing Agricultural University
2018-2022
Fujian Agriculture and Forestry University
2021
Oculopharyngodistal myopathy (OPDM) is an adult-onset neuromuscular disease characterized by progressive ocular, facial, pharyngeal and distal limb muscle involvement. Trinucleotide repeat expansions in LRP12 or GIPC1 were recently reported to be associated with OPDM. However, a significant portion of OPDM patients have unknown genetic causes. In this study, long-read whole-genome sequencing repeat-primed PCR performed we identified GGC the NOTCH2NLC gene 16.7% (4/24) cohort Chinese...
Neuronal intranuclear inclusion disease (NIID) is a neuromuscular/neurodegenerative caused by the expansion of CGG repeats in 5′ untranslated region (UTR) NOTCH2NLC gene. These can be translated into polyglycine-containing protein, uN2CpolyG, which forms protein inclusions and toxic cell models, albeit through an unknown mechanism. Here, we established transgenic Drosophila model expressing uN2CpolyG multiple systems, resulted progressive neuronal loss, locomotor deficiency, shortened...
Abstract The initiation of calcium oxalate (CaOx) kidney stone formation is highly likely to stem from injury the renal tubular epithelial cells (RTECs) induced by stimulation an aberrant urinary environment. CHAC1 plays a critical role in stress response mechanisms regulating glutathione metabolism. Endoplasmic reticulum (ER) and ferroptosis are demonstrated be involved formation. This study attempted elucidate mechanism ER stress‐dependent CaOx stones. Here, expression performed vivo vitro...
Thalidomide has shown exceptional results in the management of Behçet's disease. Despite its efficacy, thalidomide is associated with a number adverse effects, including peripheral neuropathy. This study aims to characterize pathologic features neuropathy disease patients who received therapy. Consecutive adult and developed were collected. Clinical manifestations, electrophysiologic evaluations, findings studied. Three met inclusion criteria Sensory deficits, particularly lower extremities,...
Cold stress is a major abiotic factor plants face during their life cycle. Although often exhibit phenotypic variation in cold tolerance, the underlying mechanism remains poorly understood. In present study, 50% lethal temperature (LT50) values of 37 Arabidopsis thaliana accessions at latitudes from 15° to 58° ranged -13.2°C -4.9°C and were closely correlated with climates collection sites. According methylation analysis all C-repeat (CRT)-binding (CBF) pathway genes, coding promoter regions...
Abstract Objective This study aims to report the genotypes and phenotypes of hereditary transthyretin amyloidosis ( ATTR) in a large Chinese cohort, yet clinical genetic profiles ATTR remain elusive mainland China. Methods Fifty‐four patients with molecularly confirmed from 39 unrelated families were identified by sequencing TTR gene. Sural nerve biopsies performed 40 these cases. The electrophysiological data retrospectively collected analyzed. Results male/female ratio was 42:12. average...
Abstract The precise genetic diagnosis of dystrophinopathies can be challenging, largely due to rare deep intronic variants and more complex structural (SVs). We report on the characterization a dystrophinopathy patient. He remained without after routine testing, dystrophin protein mRNA analysis, short‐ long‐read whole DMD gene sequencing. finally identified novel SV in via whole‐genome variant consists large‐scale (~1Mb) inversion/deletion‐insertion rearrangement mediated by LINE‐1s. Our...
Abstract Background The expansion of GGC repeat in the 5' untranslated region NOTCH2NLC has been associated with various neurogenerative disorders central nervous system and, more recently, oculopharyngodistal myopathy. This study aimed to report patients distal weakness both neuropathic and myopathic features on electrophysiology pathology who present expansions . Methods Whole‐exome sequencing (WES) long‐read were implemented identify candidate genes. In addition, available clinical data...
The aim of this study was to evaluate the pattern thigh muscle MRI changes in a large cohort patients with dysferlinopathy.MRI performed 60 patients. We correlated scale involvement on modified Gardner-Medwin and Walton (GM-W) disease duration. also analyzed relationship between genetic mutations.Fatty infiltration edema were observed 95.50% 86.67% patients, respectively. hamstring muscles had highest frequency mean score fatty infiltration, although posterior-dominant found only 56%. Edema...
To investigate the diagnostic value of implementing a stepwise genetic testing strategy (SGTS) in genetically unsolved cases with dystrophinopathies.After routine 872 male patients highly suspected dystrophinopathies, we identified 715 pathogenic DMD variant. Of 157 who had no variants and underwent muscle biopsy, 142 were confirmed to have other myopathies, 15 dystrophinopathies remained undiagnosed. These more comprehensive evaluation as part SGTS pipeline, which included analysis...
In the present study, immobilization of free pectinase onto polystyrene resin beads via crosslinking with glutaraldehyde was investigated. The immobilized characterized by Fourier transform infrared spectroscopy and confocal laser scanning microscopy. After optimizing conditions, optimum pH shifted from 8.0 to 8.5 temperature 45 60 °C, showing its improved stability compared pectinase. Michaelis-Menten constant Km value determined be 1.95 5.36 mM, respectively. storage demonstrated 36.8%...
To evaluate MRI changes to define muscle-lesion specific patterns in patients with antisynthetase syndrome (ASS), and compare them those other common idiopathic inflammatory myopathy subtypes.Qualitative semi-quantitative thigh evaluations were conducted ASS, DM immune-mediated necrotizing (IMNM).This study included 51 56 61 IMNM. Thigh revealed muscle oedema (62.7%), myofascial (90.2%), subcutaneous-tissue (60.8%) fatty infiltration of muscles (68.6%) ASS. Compared IMNM, ASS associated more...
There is still a considerable proportion of patients with inherited peripheral neuropathy (IPN) whose pathogenic genes are unknown. This study was intended to investigate whether the GGC repeat expansion in NOTCH2NLC presented some IPN. A total 142 unrelated mainland Chinese highly suspected diagnosis IPN without any known causative gene were recruited. Repeat-primed polymerase chain reaction (RP-PCR) performed screen , followed by fluorescence amplicon length analysis-PCR (AL-PCR) determine...
Abstract Background and purpose Neuronal intranuclear inclusion disease (NIID) is associated with CGG repeat expansion in the NOTCH2NL C gene. Although pure or dominant peripheral neuropathy has been described as a subtype of NIID few patients, most patients predominantly show involvements central nervous system (CNS). It necessary to further explore whether these have subclinical neuropathy. Methods Twenty‐eight clinically characterized by CNS‐dominant involvements, were recruited from two...
Abstract Objective The co‐morbidity of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP)/autoimmune nodopathies with nephropathy has been gradually known in recent years. This study was intended to explore the clinical, serological and neuropathological features seven patients CIDP/autoimmune nephropathy. Methods Among 83 CIDP patients, were identified Their electrophysiological laboratory examination data collected. nodal/paranodal antibodies tested. sural biopsies performed...
Most pathogenic
Mutations of transthyretin (TTR) cause the most common type autosomal-dominant hereditary systemic amyloidosis, which occurs worldwide. To date, more and mutations in TTR gene have been reported. Some variations clinical presentation are often observed patients with same mutation or family. The purpose this study was to find out clinicopathologic genetic features Chinese amyloidosis.Clinical necessary examination materials were collected from nine eight families amyloidosis at Peking...