A5050819672- Connective tissue disorders research
- Bone Metabolism and Diseases
- Pulmonary Hypertension Research and Treatments
- Dermatological and Skeletal Disorders
- Cancer-related molecular mechanisms research
- Angiogenesis and VEGF in Cancer
- Bone health and treatments
- Congenital heart defects research
- RNA modifications and cancer
- RNA Research and Splicing
- Phonocardiography and Auscultation Techniques
- Genomics and Rare Diseases
- MicroRNA in disease regulation
- interferon and immune responses
- Renal and related cancers
- Congenital Heart Disease Studies
- RNA regulation and disease
- Neonatal Respiratory Health Research
- Immune Response and Inflammation
- Scoliosis diagnosis and treatment
- Cell Adhesion Molecules Research
- Trace Elements in Health
- Caveolin-1 and cellular processes
- Craniofacial Disorders and Treatments
- Nuclear Structure and Function
Xi'an Jiaotong University
2009-2025
Northwest Women's and Children's Hospital
2023-2025
RIKEN Center for Integrative Medical Sciences
2016-2024
Second Affiliated Hospital of Nanchang University
2024
Nanchang University
2024
First Affiliated Hospital of Xi'an Jiaotong University
2009-2023
Xi’an Children’s Hospital
2022-2023
Anhui Medical University
2023
Shanghai First People's Hospital
2017-2022
Shanghai Jiao Tong University
2017-2022
Previously, we identified an adolescent idiopathic scoliosis susceptibility locus near human ladybird homeobox 1 (LBX1) and FLJ41350 by a genome-wide association study. Here, characterized the associated non-coding variant investigated function of these genes. A chromosome conformation capture assay revealed that genome region with most significantly single nucleotide polymorphism (rs11190870) physically interacted promoter LBX1-FLJ41350. The in direction LBX1, combined 590-bp including...
Alzheimer's disease (AD) is a progressive neurodegenerative disorder that leads to irreversible cognitive decline in memory and communication. Early detection of AD through speech analysis crucial for delaying progression. However, existing methods mainly use pre-trained acoustic models feature extraction but have limited ability model both local global patterns long-duration speech. In this letter, we introduce Dual-Stage Time-Context Network (DSTC-Net) speech-based detection, integrating...
Abstract Genetic white matter disorders have heterogeneous etiologies and overlapping clinical presentations. We performed a study of the diagnostic efficacy genome sequencing in 41 unsolved cases with prior exome sequencing, resolving an additional 14 from historical cohort ( n = 191). Reanalysis context novel disease‐associated genes improved variant curation annotation resolved 64% cases. The remaining diagnoses were directly attributable to including small large copy number variants...
Radical resection is the first choice for hepatic alveolar echinococcosis (HAE). However, many patients with advanced HAE have no chance to be treated curative owing long clinical latency. This study aimed evaluate necessity of aggressive operations, like palliative and orthotopic liver transplantation (OLT), in management HAE. A retrospective analyzed 42 (N = 15), nonresective procedures 13), OLT 3), or albendazole therapy alone 11). The patients' condition before treatments was comparable...
The skeletal ciliopathies are a heterogeneous group of disorders with significant clinical and genetic variability the main features thoracic hypoplasia short tubular bones. To date, 25 genes have been identified in association ciliopathies. Mutations KIAA0753 gene recently associated Joubert syndrome (JBTS) orofaciodigital (OFD) syndrome. We report biallelic pathogenic variants four patients short-rib type dysplasia. manifestations our variable ranging from fetal lethal to viable moderate...
Many algorithms to detect copy number variations (CNVs) using exome sequencing (ES) data have been reported and evaluated on their sensitivity specificity, reproducibility, precision. However, operational optimization of such for a better performance has not fully addressed. ES 1199 samples including 763 patients with different disease profiles was performed. were analyzed CNVs by both the eXome Hidden Markov Model (XHMM) modified Nord's method. To efficiently rare CNVs, we aimed decrease...
Abstract Kyphomelic dysplasia is a heterogeneous group of skeletal dysplasias characterized by severe bowing the limbs associated with other variable findings, such as narrow thorax and abnormal facies. We searched for genetic etiology this disorder. Four individuals diagnosed kyphomelic were enrolled. performed whole‐exome sequencing evaluated pathogenicity identified variants. All had de novo heterozygous variants in KIF5B encoding kinesin‐1 heavy chain: two c.272A>G:p.(Lys91Arg), one...
ABSTRACT Pulmonary microvascular leakage is one of the characteristics blood–air barrier dysfunction in septic acute lung injury/acute respiratory distress syndrome (ALI/ARDS). Fibroblast growth factor-inducible 14 (Fn14) exerts diverse functions under certain circumstances. However, role Fn14 on integrity pulmonary endothelial cells (PMVECs) during sepsis remains unknown. Septic ALI was induced via cecal ligation and puncture (CLP). expression PMVECs measured 24 h after surgery. The effects...