A5101706510- Genomics and Rare Diseases
- Molecular Biology Techniques and Applications
- Advanced Photocatalysis Techniques
- Forensic and Genetic Research
- melanin and skin pigmentation
- Genomic variations and chromosomal abnormalities
- Polysaccharides and Plant Cell Walls
- Gold and Silver Nanoparticles Synthesis and Applications
- Genomics, phytochemicals, and oxidative stress
- Advanced oxidation water treatment
- Skin Protection and Aging
- Exercise and Physiological Responses
- Hedgehog Signaling Pathway Studies
- Environmental DNA in Biodiversity Studies
- Genetic Associations and Epidemiology
- Environmental remediation with nanomaterials
- Plant Reproductive Biology
- Nanofabrication and Lithography Techniques
- Cancer Cells and Metastasis
- Ocular Disorders and Treatments
- interferon and immune responses
- RNA regulation and disease
- Oral and gingival health research
- Autophagy in Disease and Therapy
- Polysaccharides Composition and Applications
Tongji University
2024
First Affiliated Hospital Zhejiang University
2024
University Town of Shenzhen
2023
Tsinghua University
2023
Northeast Agricultural University
2021
Ministry of Public Security of the People's Republic of China
2020
Institute of Forensic Science
2018-2020
University of California, Berkeley
2020
Linkou Chang Gung Memorial Hospital
2019
China Pharmaceutical University
2017-2018
Abstract Identifying pathogenic variants from the vast majority of nucleotide variation remains a challenge. We present method named Multimodal Annotation Generated Pathogenic Impact Evaluator (MAGPIE) that predicts pathogenicity multi-type variants. MAGPIE uses ClinVar dataset for training and demonstrates superior performance in both independent test set multiple orthogonal validation datasets, accurately predicting variant pathogenicity. Notably, performs best rare highly imbalanced...
The genetic disorder Kabuki syndrome (KS) is characterized by developmental delay and congenital anomalies. Dominant mutations in the chromatin regulators lysine (K)–specific methyltransferase 2D (KMT2D) (also known as MLL2) demethylase 6A (KDM6A) underlie majority of cases. Although functions these chromatin-modifying proteins have been studied extensively, physiological systems regulated them are largely unknown. Using whole-exome sequencing, we identified a mutation RAP1A that was...
Foaming agents influence the feasibility of microwave-assisted foam-mat drying (MFD) for production blueberry pulp powder (BPP). In this study, effects foaming on characteristics foamed (FBP) and physicochemical indicators BPP were investigated by using formulations containing egg white (EWP, 0, 4, 8 g/100 g), maltodextrin (MD, 5, 10 g) carboxymethylcellulose (CMC, 0.5, 1 g). Results showed that co-addition EWP MD obviously influenced rate FBP. The solubility porosity increased significantly...
Abstract Constitutive NF-E2-related factor 2 (Nrf2, NFE2L2) activation has been recently reported to play a pivotal role in enhancing cell survival and resistance anticancer drugs many tumors. Wogonin had strong reversal potency via reduction of Nrf2 mRNA Adriamycin (ADR)-induced resistant human chronic myelogenous leukemia (CML) K562/A02, but the mechanism was still unclear. In this study, we aimed delineate by which suppressed transcription CML cells further evaluate effects on established...
Epidemiological data on rare diseases in China are currently limited. The objective of this study was to provide a comprehensive understanding the prevalence and incidence by systematically analyzing available epidemiological data. We conducted search English Chinese databases, Incidence Prevalence Database, Rare Disease Guideline, Taiwan Health Promotion Administration from 2010 2023. identified top regions based present maximum, minimum, median values tables forest plots. 1,264 were...
Abstract SRC family kinase was documented to have vital roles in adjusting cancer cell malignant behaviors. To date, the role of c-Src, a member kinase, resistance paclitaxel human ovarian cells under hypoxia has not been investigated. In present study, we discovered that hypoxic environment suppressed paclitaxel-induced G2/M phase arrest and blockade c-Src improved cells’ sensitivity paclitaxel. FV-429, derivative natural flavonoid wogonin, could suppress gene expression activation followed...
Abstract Next‐generation sequencing ( NGS ) has been used to genotype forensic short tandem repeat STR markers for individual identification and kinship analysis. data from several platforms have published, but application trials using the Ion S5™ XL system not reported. In this work, we report sensitivity, reproducibility, mixture, simulated degradation, casework sample on Chef™ systems an early access 25‐plex panel. Sensitivity experiments showed that over 97% of alleles were detectable...
It has been well established ex vivo that melanin the ability of scavenging free radicals and reactive oxygen species (ROS), besides other functions. Therefore, we propose to utilize nanonized as medication against acute oxidative stress. For this purpose, developed characterized two techniques based on mechanical stir photo-fragmentation using femtosecond laser pulses, respectively, for disintegration suspended powder produce nanometer-sized water-dispersible melanin. This resolves a major...
Imatinib (IM), as first inhibitor of the oncogenic tyrosine kinase BCR-ABL, has been widely used to treat chronic myeloid leukemia (CML) for decades in clinic. However, resistance imatinib usually occurs CML patients. The bone marrow (BM), predominant microenvironment CML, secretes an abundant amount cytokines, which may contribute drug resistance. In current study, we utilized vitro K562 co-culture model with BM stroma investigate IM As a result, co-culturing was sufficient cause IM,...
Point-of-care (POC) testing has demonstrated great transformative potential in personalized medicine. In particular, patients undergoing transplantation require POC to ensure appropriate serum immunosuppressant levels so as maintain adequate graft function and survival. However, no suitable device for monitoring is currently available. Exploiting the latest advances metamaterials can lead a breakthrough testing. A high-contrast grating (HCG) biosensor low-cost, compact, simple-to-fabricate,...
Massively parallel sequencing of forensic STRs simultaneously provides length-based genotypes and core repeat sequences as well flanking sequence variations. Here, we report primer concentrations a next-generation (NGS)-based in-house panel covering 28 autosomal STR loci (CSF1PO, D1GATA113, D1S1627, D1S1656, D1S1677, D2S441, D2S1776, D3S3053, D5S818, D6S474, D6S1017, D6S1043, D8S1179, D9S2157, D10S1435, D11S4463, D13S317, D14S1434, D16S539, D18S51, D18S853, D20S482, D20S1082, D22S1045, FGA,...
It has been proposed that melanin may play a role in the antimicrobial defense system of human body. Furthermore, it found efficacy against oxidative stress, tumor, venin, virus, and heavy metal ions. In view great potential medical applications revealed by its photodynamic actions, we develop techniques based on mechanical stir photo-fragmentation with femtosecond laser pulses respectively for nanonization to produce nanometer-sized water-dispersible melanin, order more reliably study as...
Establishing a good algorithm for predicting temperature of thermostable proteins is an important issue. In this study, novel prediction method using Hurst exponent and Choquet integral regression model based on L-measure lambda-support proposed. The main idea to integrate the physicochemical properties, fractal property amino symbolic sequences with different lengths. For evaluating performance new algorithm, 5-fold Cross-Validation MSE performed. Experimental result shows that scheme...
PURPOSE: The current study was undertaken to investigate the effect of 25th day mountain climbing activity on TNF-α and glucose tolerance METHODS: Ten males participated in this (age 31.6±1.6yrs, BMI 24.4±0.8). Oral test (OGTT) performed pre-and Central Mountain Ridge areas Taiwan (altitude 2200-3800m). Fasting blood samples before OGTT were taken for measuring serum receptor levels. RESULTS: Glucose insulin sensitivity improved body fat declined significantly (p<.05), but did not alter...