A5102800980- Muscle Physiology and Disorders
- RNA Research and Splicing
- Epilepsy research and treatment
- Mitochondrial Function and Pathology
- Genetic Neurodegenerative Diseases
- RNA modifications and cancer
- Nuclear Structure and Function
- Tissue Engineering and Regenerative Medicine
- RNA regulation and disease
- Neuroscience and Neuropharmacology Research
- Genetics and Neurodevelopmental Disorders
- Cardiomyopathy and Myosin Studies
- Glycogen Storage Diseases and Myoclonus
- Neonatal and fetal brain pathology
- Plant Molecular Biology Research
- Metabolism and Genetic Disorders
- Adipose Tissue and Metabolism
- Cell Adhesion Molecules Research
- Plant Gene Expression Analysis
- Congenital heart defects research
- Postharvest Quality and Shelf Life Management
- EEG and Brain-Computer Interfaces
- Biotin and Related Studies
- Phytoplasmas and Hemiptera pathogens
- Calpain Protease Function and Regulation
Peking University First Hospital
2015-2024
Peking University
2015-2024
Huazhong Agricultural University
2022-2024
Shanghai Zhangjiang Laboratory
2024
First Affiliated Hospital of Zhengzhou University
2006
Abstract WRKY transcription factors play a central role in controlling plant organ senescence; however, it is unclear whether and how they regulate petal senescence the widely grown ornamental tulip (Tulipa gesneriana). In this study, we report that TgWRKY75 promotes by enhancing synthesis of both abscisic acid (ABA) salicylic (SA) transgenic Arabidopsis. The expression level was up-regulated senescent petals, exogenous ABA or SA treatment induced its expression. endogenous contents...
Abstract Petal senescence is a crucial determinant for ornamental quality and economic value of floral crops. Salicylic acid (SA) reactive oxygen species (ROS) are two prominent factors involved in plant regulation. In this study, tulip TgNAP (NAC-like, activated by APETALA3/PISTILLATA) was characterized as positively regulating petal through dually SA biosynthesis ROS detoxification pathways. upregulated senescing petals while exogenous H2O2 treatments substantially promoted tulip....
This study aimed to analyze the correlation between phenotype and genotype of Chinese patients with early-onset lamin A (LMNA)-related muscular dystrophy (MD). The clinical myopathological data 21 pediatric LMNA-related MD were collected analyzed. LMNA gene mutation analysis was performed by direct sequencing genomic DNA. Sublocalization wild-type mutant proteins observed immunofluorescence using cultured fibroblasts human embryonic kidney 293 (HEK 293) cell. Seven diagnosed Emery-Dreifuss...
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),...
Background LMNA -related muscular dystrophy is caused by mutations in gene. We aimed to identify genetic variations and clinical features a large cohort of Chinese patients with an attempt establish genotype-phenotype correlation. Methods The presentations were recorded using retrospective prospective study. mutation analysis was performed Sanger sequencing or next-generation sequencing. Mosaicism detected personal genome machine amplicon deep for mosaicism. Results Eighty-four identified...
Abstract Background LAMA2 -related muscular dystrophy including congenital ( -CMD) and autosomal recessive limb-girdle dystrophy-23 (LGMDR23) is caused by pathogenic variants. We aimed to describe the natural history establish genotype–phenotype correlations in a large cohort of Chinese patients with dystrophy. Methods Clinical genetic data enrolled from ten research centers between January 2003 March 2021 were collected analyzed. Results One hundred thirty (116 -CMD 14 LGMDR23) included....
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...
LAMA2-related limb girdle muscular dystrophy (LGMD R23) is rare. The detailed clinical phenotypes and genetic information associated with LGMD R23 are unknown.We conducted a retrospective cross-sectional longitudinal study on 19 patients.Normal early motor development was observed in 84.2% patients. Mild orthopedic complications were 42.1% 36.8% patients had seizures, which unusually frequent LGMD. Epilepsy eventually diagnosed 26.3% 46.7% presented neuropathy. Genetic analysis identified 29...
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),...
Abstract Clinically, some patients having genetic (idiopathic) epilepsy with photosensitive seizures were difficult to be diagnosed. We aimed discuss whether the is a focal entity, generalized entity or continuum. Twenty-two idiopathic epilepsies and photoconvulsive response (PCR) retrospectively recruited. In medical records, seizure types included “generalized tonic-clonic (GTCS)” in 15, “partial secondarily GTCS (PGTCS)” 3, partial (PS) myoclonic 2, eyelid myoclonus one, only febrile one....
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....
Objective: The DYNC1H1 gene is related to a variety of diseases, including spinal muscular atrophy with lower extremity-predominant 1, Charcot-Marie-Tooth disease type 2O, and mental retardation, autosomal dominant13 (MRD13). Some patients variant also had epilepsy. This study aimed detect variants in Chinese infantile spasms (ISs). Methods: We reviewed clinical information, video electroencephalogram (V-EEG), neuroimaging newly identified cohort five de novo DYNC1H1gene variants. Results:...
Abstract Tulips ( Tulipa gesneriana ) are one of the most widely cultivated bulbous plants with substantial ornamental value. However, lack well-documented reference genomes has limited research progress and molecular breeding tulips. In present study, a full-length transcriptome commercial tulip cultivar was obtained using single-molecule long-read sequencing (PacBio Iso-Seq). total, 244,357 transcripts were identified, which had an average length 2,044 bp N50 value 3,861; 67,350 these...