Area of research
Hematology · Pulmonary and Respiratory Medicine
Research interest
Research interests include Biology, Exon, RNA splicing, Missense mutation, Nonsense mutation, and Minigene.
Rescue of a panel of Hemophilia A-causing 5’ss splicing mutations by unique Exon-specific U1snRNA variants
Could targeted gene insertion of factor 9 be a potential durable treatment for Hemophilia B?
Tailored collagen binding of albumin-fused hyperactive coagulation factor IX dictates in vivo distribution and functional properties
Extracellular matrix-targeting oligonucleotide reverses marrow fibrosis
Engineered tRNAs efficiently suppress CDKL5 premature termination codons
DNA base editing corrects common hemophilia A mutations and restores factor VIII expression in in vitro and ex vivo models
Counteracting the Common Shwachman–Diamond Syndrome-Causing SBDS c.258+2T>C Mutation by RNA Therapeutics and Base/Prime Editing
1,3,8-Triazaspiro[4.5]decane Derivatives Inhibit Permeability Transition Pores through a FO-ATP Synthase c Subunit Glu119-Independent Mechanism That Prevents Oligomycin A-Related Side Effects
Whole-Exome Sequencing in a Family with an Unexplained Tendency for Venous Thromboembolism: Multicomponent Prediction of Low-Frequency Variant Deleteriousness and of Individual Protein Interaction
OC 04.4 A Novel Tailored Correction Approach for Recurrent Hemophilia-Causing Nonsense Mutations Through Anticodon-Engineered Suppressor Trnas
Translation termination codons in protein synthesis and disease
The p.P1127S pathogenic variant lowers von Willebrand factor levels through higher affinity for the macrophagic scavenger receptor LRP1: Clinical phenotype and pathogenic mechanisms
Translational readthrough at <i>F8</i> nonsense variants in the factor VIII B domain contributes to residual expression and lowers inhibitor association
A naturally occurring mutation in ATP synthase subunit c is associated with increased damage following hypoxia/reoxygenation in STEMI patients
F9 missense mutations impairing factor IX activation are associated with pleiotropic plasma phenotypes
Fusion of engineered albumin with factor IX Padua extends half‐life and improves coagulant activity
Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function
OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spfash mice, and govern susceptibility to RNA-based therapies
An advanced method for the small-scale production of high-quality minicircle DNA
An engineered human albumin enhances half-life and transmucosal delivery when fused to protein-based biologics
Molecular Insights into Determinants of Translational Readthrough and Implications for Nonsense Suppression Approaches
In vivo modulation of a dominant‐negative variant in mouse models of von Willebrand disease type 2A
A Compensatory U1snRNA Partially Rescues FAH Splicing and Protein Expression in a Splicing-Defective Mouse Model of Tyrosinemia Type I
Noncanonical type 2B von Willebrand disease associated with mutations in the VWF D′D3 and D4 domains
An Exon-Specific Small Nuclear U1 RNA (ExSpeU1) Improves Hepatic OTC Expression in a Splicing-Defective spf/ash Mouse Model of Ornithine Transcarbamylase Deficiency
Aptamer-modified FXa generation assays to investigate hypercoagulability in plasma from patients with ischemic heart disease
Deciphering the Ets-1/2-mediated transcriptional regulation of F8 gene identifies a minimal F8 promoter for hemophilia A gene therapy
A recoded view on the F9 p.Cys178Ter pathogenic mechanism
NEW GENES AND DISEASES / NGS & RELATED TECHNIQUES
New Evidence on the Pathological Role of Permeability Transition Pore in Patients with STEMI