A5008633675- Connective tissue disorders research
- Dermatological and Skeletal Disorders
- Radiation Dose and Imaging
- TGF-β signaling in diseases
- Genomics and Rare Diseases
- Wnt/β-catenin signaling in development and cancer
- Organic Food and Agriculture
- Reliability and Agreement in Measurement
- Dupuytren's Contracture and Treatments
- Cancer Genomics and Diagnostics
- Medical Imaging and Analysis
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Peptidase Inhibition and Analysis
- Connective Tissue Growth Factor Research
Chinese Academy of Medical Sciences & Peking Union Medical College
2024-2025
Beijing Institute of Big Data Research
2024-2025
Academy of Medical Sciences
2025
Peking Union Medical College Hospital
2024-2025
Huazhong University of Science and Technology
2020
SOX9 is a crucial transcriptional regulator of cartilage development and homeostasis. Dysregulation associated with wide spectrum skeletal disorders, including campomelic dysplasia, acampomelic scoliosis. Yet how variants contribute to the axial disorders not well understood. Here, we report four pathogenic identified in cohort patients congenital vertebral malformations. We missense variant transactivation middle (TAM) domain mild dysplasia isolated Sox9 mutant mouse an in-frame...
Abstract Background The Ehlers-Danlos syndromes (EDS) are a group of rare hereditary connective tissue disorders. EDS is clinically and genetically heterogeneous usually involves multiple systems. There 14 subtypes with hallmark features including joint hypermobility, skin hyperextensibility, fragility. clinical manifestations their severity differ among the subtypes, encompassing recurrent dislocations, scoliosis, arterial aneurysm dissection, organ rupture. Challenges in diagnosis...
Biallelic pathogenic variants in CCN6 cause progressive pseudorheumatoid dysplasia (PPD), a rare skeletal dysplasia. The predominant features include noninflammatory joint stiffness and enlargement, which are not unique to this condition. Nearly 100% of the reported single nucleotide or small indels, missing second variant has been reported. Genome sequencing (GS) covers various types deep phenotyping (DP) provides detailed precise information facilitating genetic data interpretation....
The harmonious and sustainable development of countryside is the key topic current rural area in China. heterogeneity geographical environment results basis diversified modes villages, besides, regional differences culture formed various "regional gene" development. Under background cultural highlights revival, tourism has become a factor minority regions, which featured by exhibitions folk experiencing activities. Due to impetus tourism, both introversive developing pattern traditional...