A5049944803- Connective tissue disorders research
- Genetic factors in colorectal cancer
- Congenital heart defects research
- Cancer Genomics and Diagnostics
- BRCA gene mutations in cancer
- Genetics, Bioinformatics, and Biomedical Research
- Reproductive Biology and Fertility
- Effects and risks of endocrine disrupting chemicals
- TGF-β signaling in diseases
- Prenatal Screening and Diagnostics
- Vascular Malformations and Hemangiomas
- Tumors and Oncological Cases
- Pluripotent Stem Cells Research
- Moyamoya disease diagnosis and treatment
- Speech and Audio Processing
- Bone Metabolism and Diseases
- Cancer-related molecular mechanisms research
- Ubiquitin and proteasome pathways
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genomics and Rare Diseases
- Scoliosis diagnosis and treatment
- Music and Audio Processing
- Mycotoxins in Agriculture and Food
- RNA modifications and cancer
- Selenium in Biological Systems
Qingdao Agricultural University
2020-2025
Changzhou University
2024-2025
Peking Union Medical College Hospital
2018-2024
Chinese Academy of Medical Sciences & Peking Union Medical College
2018-2024
Shanghai First Maternity and Infant Hospital
2024
Jiangnan University
2023
Center for Children
2022
Beijing Children’s Hospital
2022
Capital Medical University
2022
Shuguang Hospital
2021
Background Brain arteriovenous malformations (BAVM) represent a congenital anomaly of the cerebral vessels with prevalence 10–18/100 000. BAVM is leading aetiology intracranial haemorrhage in children. Our objective was to identify gene variants potentially contributing disease and better define molecular underlying non-syndromic sporadic BAVM. Methods We performed whole-exome trio sequencing 100 unrelated families clinically uniform phenotype. Pathogenic were then studied vivo using...
Background Early-onset scoliosis (EOS), defined by an onset age of less than 10 years, conveys significant health risk to affected children. Identification the molecular aetiology underlying patients with EOS could provide valuable information for both clinical management and prenatal screening. Methods In this study, we consecutively recruited a cohort 447 Chinese operative EOS. We performed exome sequencing (ES) screening on these individuals their available family members (totaling 670...
Abstract Cashmere, also known as soft gold, is produced from the secondary hair follicles (SHFs) of cashmere goats. The number SHFs determines yield and quality cashmere; therefore, it interest to investigate transcriptional profiles present during goat follicle development. However, mechanisms underlying this development process remain largely unexplored, studies regarding mostly use a murine research model. In study, provide comprehensive understanding cellular heterogeneity cell fate...
Abstract The current coronavirus disease 2019 (COVID-19) pandemic caused by severe acute respiratory syndrome (SARS-CoV-2) remains a threat to pregnant women. However, the impact of early pregnancy SARS-CoV-2 infection on maternal-fetal interface poorly understood. Here, we present comprehensive analysis single-cell transcriptomics and metabolomics in placental samples infected with during pregnancy. Compared control placentas, elicited immune responses at induced metabolic alterations amino...
Congenital scoliosis (CS), affecting approximately 0.5 to 1 in 1,000 live births, is commonly caused by congenital vertebral malformations (CVMs) arising from aberrant somitogenesis or somite differentiation. While Wnt/ß-catenin signaling has been implicated development, the function of Wnt/planar cell polarity (Wnt/PCP) this process remains unclear. Here, we investigated role
Abstract Congenital vertebral malformation, affecting 0.13–0.50 per 1000 live births, has an immense locus heterogeneity and complex genetic architecture. In this study, we analyze exome/genome sequencing data from 873 probands with congenital malformation 3794 control individuals. Clinical interpretation identifies Mendelian etiologies in 12.0% of the reveals a muscle-related disease mechanism. Gene-based burden test ultra-rare variants risk genes large effect sizes ( ITPR2 , TBX6 TPO H6PD...
Nanoscaled metal–organic frameworks (MOFs) have great prospects in drug delivery. As a unique architecture, MOF-on-MOF has emerged as promising strategy to enhance loading and release efficacy. Herein, ZIF-8-on-ZIF-8 nanoplatform been fabricated via the for doxorubicin (DOX) loading, resulting core–shell hierarchical nanostructure (DOX@ZIF-8-on-ZIF-8, DZZ). This exhibited pH GSH dual-responsive DOX-releasing behavior, which are features of tumor microenvironment (TME). Compared monolayer...
Congenital scoliosis (CS) is a birth defect with variable clinical and anatomical manifestations due to spinal malformation. The genetic etiology underlying about 10% of CS cases in the Chinese population compound inheritance by which gene dosage reduced below that haploinsufficiency. In this model, trait manifests as result combined effect rare variant common pathogenic allele at locus. From exome sequencing (ES) data 523 patients Asia two Texas, we identified six TBX6 gene-disruptive...
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...
Pathogenic variants in MYH3 cause distal arthrogryposis type 2A and 2B3 as well contractures, pterygia spondylocarpotarsal fusion syndromes types 1A 1B. These disorders are ultra-rare their natural course phenotypic variability not described. In this study, we summarize the clinical features genetic findings of 17 patients from 10 unrelated families with vertebral malformations caused by dominant or recessive pathogenic MYH3. Twelve novel (NM_002470.4) were identified: three them de novo...
Congenital scoliosis (CS) is a form of caused by congenital vertebral malformations. Genetic predisposition has been demonstrated in CS. We previously reported that TBX6 loss-of-function causes CS compound heterozygous model; however, this model can explain only 10% Many monogenic and polygenic genes remain to be elucidated. In study, we analyzed exome sequencing (ES) data 615 Chinese from the Deciphering Disorders Involving Scoliosis COmorbidities (DISCO) project. Cosegregation studies for...