楊瑞彬 博士SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling
American Journal of Human Genetics Dec 11, 2020
Summary
Signal peptide-CUB-EGF domain-containing protein 3 (SCUBE3) is a member of a small family of multifunctional cell surface-ancho ......
張以承 博士Inherited causes of clonal haematopoiesis in 97,691 whole genomes
Nature Oct 14, 2020
Age is the dominant risk factor for most chronic human diseases, but the mechanisms through which ageing confers this risk are largely unkno ......
謝清河 博士Copy number variant hotspots in Han Taiwanese population induced pluripotent stem cell lines - lessons from establishing the Taiwan human disease iPSC Consortium Bank
Journal of Biomedical Science Sep 04, 2020
Abstract
Background
The Taiwan Human Disease iPSC Service Consortium was established to accelerate Taiwan’s growing stem cell ......
張以承 博士Genome-wide association study for circulating fibroblast growth factor 21 and 23
Scientific reports Sep 03, 2020
Fibroblast growth factors (FGFs) 21 and 23 are recently identified hormones regulating metabolism of glucose, lipid, phosphate and vitamin D ......
楊鎧鍵 博士Fibroblast-enriched endoplasmic reticulum protein TXNDC5 promotes pulmonary fibrosis by augmenting TGFβ signaling through TGFBR1 stabilization
Nature Communications Aug 26, 2020
Pulmonary fibrosis (PF) is a major public health problem with limited therapeutic options. There is a clear need to identify novel mediators ......
張以承 博士Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale
Nature Genetics Aug 24, 2020
Large-scale whole-genome sequencing studies have enabled the analysis of rare variants (RVs) associated with complex phenotypes. Commonly us ......
張以承 博士The Effects of Bariatric Surgery on Renal, Neurological, and Ophthalmic Complications in Patients with Type 2 Diabetes: the Taiwan Diabesity Study
Obesity surgery Jul 18, 2020
Abstract
Background: Bariatric surgery has been shown to improve glycemic control in patients with type 2 diabetes. However, less ......
黃明經 博士Detection and Classification of Cardiac Arrhythmias by a Challenge-Best Deep Learning Neural Network Model
iScience Mar 27, 2020
Electrocardiograms (ECGs) are widely used to clinically detect cardiac arrhythmias (CAs). They are also being used to develop computer-assis ......
胡哲銘 博士Synthetic Immunogenic Cell Death Mediated by Intracellular Delivery of STING Agonist Nanoshells Enhances Anticancer Chemo-immunotherapy
Nano Letters Mar 17, 2020
Many favorable anticancer treatments owe their success to the induction immunogenic cell death (ICD) in cancer cells, which results in the r ......
張以承 博士Stratified risks of infection-related hospitalization in patients with chronic kidney disease - A prospective cohort study
Scientific reports Mar 11, 2020
Patients with chronic kidney disease (CKD) are at high risk of infection, but whether the risks are attenuated in different patient groups r ......
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