A5075222903- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- Microplastics and Plastic Pollution
- Advanced biosensing and bioanalysis techniques
- Parvovirus B19 Infection Studies
- Cancer-related gene regulation
- Polysaccharides and Plant Cell Walls
- Congenital Anomalies and Fetal Surgery
- Genomics and Rare Diseases
- Molecular Sensors and Ion Detection
- Polysaccharides Composition and Applications
- Tuberous Sclerosis Complex Research
- Cancer-related molecular mechanisms research
- Ethics and Legal Issues in Pediatric Healthcare
- Nanoplatforms for cancer theranostics
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Tumors and Oncological Cases
- Graphene and Nanomaterials Applications
- Fetal and Pediatric Neurological Disorders
- Family and Disability Support Research
- Platelet Disorders and Treatments
- Immunodeficiency and Autoimmune Disorders
- Generative Adversarial Networks and Image Synthesis
- Pineapple and bromelain studies
- Carbon and Quantum Dots Applications
Jiangxi Agricultural University
2024-2025
Wenzhou Medical University
2024-2025
Ningbo Institute of Industrial Technology
2024-2025
Chinese Academy of Sciences
2024-2025
Shanghai First Maternity and Infant Hospital
2010-2024
Suzhou City University
2023
Tongji University
2022-2023
China Agricultural University
2023
Communication University of China
2022
Beijing University of Posts and Telecommunications
2010
Neural differentiation, synaptic transmission, and action potential propagation depend on membrane sphingolipids, whose metabolism is tightly regulated. Mutations in the ceramide transporter CERT (CERT1), which involved sphingolipid biosynthesis, are associated with intellectual disability, but pathogenic mechanism remains obscure. Here, we characterize 31 individuals de novo missense variants CERT1. Several fall into a previously uncharacterized dimeric helical domain that enables...
Whole genome sequencing (WGS) is a powerful tool for postnatal genetic diagnosis, but relevant clinical studies in the field of prenatal diagnosis are limited. The present study aimed to prospectively evaluate utility WGS compared with chromosomal microarray (CMA) and whole exome (WES) fetal structural anomalies. We performed trio (≈40-fold) parallel CMA 111 fetuses or growth anomalies, sequentially WES when was negative (CMA plus WES). In comparison, not only detected all pathogenic...
Choerospondias axillaris fruit has attracted more and attention due to its various pharmacological activities, which are rich in polysaccharides. This study investigated the vitro saliva-gastrointestinal digestion fecal fermentation behaviors of polysaccharides from (CAP), as well impact on human gut microbiota. The results showed that CAP could be partially degraded during gastrointestinal digestion. FT-IR spectra digested didn't change significantly, however, morphological feature SEM...
Wiedemann–Steiner syndrome (WDSTS) is a rare genetic disorder characterized by facial gestalt, neurodevelopmental delay, skeletal anomalies and growth retardation, which caused variation of KMT2A gene. To date, only 2 Chinese WDSTS patients have been reported. Here, we report the phenotypes gene variations in 14 unrelated investigate phenotypic differences between French cohorts. Next generation sequencing was performed for each patient, variants were validated Sanger sequencing. The 16...
Abstract The strategy “Borrow strength to exert” in Sun Tzu's Art of War refers borrowing external forces withstand the enemy. Inspired by this, applying this thought cancer treatment can achieve a more efficient therapeutic effect. Therefore, fulcrum borrow force is vital and significant. Compared with normal cells, tumor cells are sensitive redox stress owing their abnormal metabolism. Herein, regulatory protocol based on chloroauric acid (HAuCl 4 ) proposed prepare small‐size...
(1) Background: Numerous etiologies may lead to non-immune hydrops fetalis (NIHF). However, the causes remain unclear in half of NIHF cases following current standard assessment. The application prenatal chromosomal microarray analysis (CMA) and exome sequencing (ES) can improve identification etiologies. This study aimed investigate era next-generation sequence (NGS) a unified work-up flow for diagnosis. (2) Methods: A retrospective was conducted on that were collected prospectively explore...
Drug repurposing refers to excavating clinically approved drugs for new clinical indications, effectively shortening the cost and time of evaluation due established molecular structure, pharmacokinetics, pharmacodynamics. In this sense, Prussian blue (PB) has received considerable attention, by virtue its unique optical, magnetic, enzymatic performance. Nevertheless, transformation PB-based nanodrugs remains restricted owing their complex synthetic formulation constrained therapeutic Herein,...
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by the development of hamartomas in multiple organs, including brain, heart, skin, kidney, lung and retina. A diagnosis TSC established with a recently revised clinical/radiological set criteria and/or causative mutation TSC1 or TSC2 gene.We report Chinese family two siblings presenting hypomelanotic macules, cardiac rhabdomyomas cortical tubers associated small subependymal nodule. The older child had...
Xiong, Shiyi; Chitayat, David; Wei, Xing; Zhu, Jialiang; Lu, Wen; Sun, Lu ming; Chopra, Maya Author Information
Background Genetic skeletal disorders (GSDs) are clinically and genetically heterogeneous with more than 350 genes accounting for the diversity of disease phenotypes. Prenatal diagnosis these has been challenging because limited but variable prenatal phenotypes, highlighting need a novel genetic approach. Short‐rib polydactyly syndrome (SRPS) Type III is an autosomal recessive GSD characterized by extreme narrowness thorax, severely shortened tubular bones, multiple malformations. Methods...
Objective To study the value of exome sequencing (ES) in severe pleural effusion with non-immune hydrops fetalis (NIHF) that underwent thoracoamniotic shunt (TAS). Methods It was a retrospective NIHF TAS between 2012 and 2020 at Shanghai First Maternity Infant Hospital. After detailed assessment, cases aneuploidies, infections, structural anomalies were excluded, offered to effusion. Quantitative fluorescence polymerase chain reaction (QF-PCR) conducted exclude Trisomy 21, 18 13 before fetal...
Due to the changing medical demands in healthcare system, there is a need for standardized and professionalized curriculum genetic counselors. This mixed-method study will observe evaluate first Peer Experiential Reciprocal Supervision (PEERS) training program on counseling among practitioners China; provide feedback recommendation future practices.A counselor was held from December 10-11, 2016 fetal medicine unit prenatal diagnosis center Shanghai with 59 participants clinical centers,...