牛道明

A Novel Gene-Editing Therapeutic Strategy for Cardiac-Type Fabry Disease

臨床醫學研究所

法布瑞氏症、鹼基編輯器、AAV 載體、旁觀者編輯、類病毒顆粒、核糖核酸蛋白複合體、基因編輯、非同源性末端結合、fabry disease、base editor、AAV vector、bystander editing、virus-like particle、ribonucleoprotein complex、gene editing、non-homologous end joining

A Multidimensional Remodeling Framework for Fabry Cardiomyopathy: Genetic Heterogeneity, Therapeutic Response, and AI-Assisted Longitudinal Phenotyping

臨床醫學研究所

法布瑞氏症、GLA IVS4+919G>A、法布瑞氏心肌病變、酵素補充治療、心肌應變、心臟重塑、Fabry disease、Fabry cardiomyopathy、enzyme replacement therapy、myocardial strain、cardiac remodeling

Integrative Insights into Fabry Cardiac Disease: Pathological Progression, Early Diagnosis, and Therapeutic Innovation

臨床醫學研究所

法布瑞氏症、心臟病變、立體幾何分析方法、早期診斷、基因治療、Fabry Disease、Cardiomyopathy、Stereology、Early Diagnosis、Gene Therapy

Investigation of Modifier Genes Associated with Clinical Manifestation Variability in Fabry Disease Patients with the GLA IVS4+919 G>A Mutation

臨床醫學研究所

法布瑞氏症、IVS4+919G>A、單核苷酸多型性、全基因關聯性分析、基因交互作用、Fabry disease、Single Nucleotide Polymorphism (SNPs)、Genome-wide association study (GWAS)、Gene-gene Interaction

Cardiac Pathophysiology in Fabry Disease: Cellular Alterations Preceding Gb3 Inclusion Body Formation

臨床醫學研究所

法布瑞氏症、心臟纖維化、球三醣神經鞘脂、早期診斷、心肌病變、Fabry Disease、Cardiac Fibrosis、Globotriaosylceramide、Early Diagnosis、Cardiomyopathy

The clinical features of paroxysmal kinesigenic dyskinesia with PRRT2 gene mutation

臨床醫學研究所

陣發性運動障礙症、基因變異、paroxysmal kinesigenic dyskinesia、PKD、PRRT2、gene mutation

Comparison of Long-term Efficacy between Adult and Neonatal Mice Using Adeno-Associated Viral Vector Mediated Gene Therapy for Fabry Disease

臨床醫學研究所

法布瑞氏症、早期治療、基因治療、Fabry disease、Early treatment、Gene therapy

Development of a Gene Therapy for Fabry Disease Using Adeno-Associated Viral Vector Mediated Gene Transfer

臨床醫學研究所

法布瑞氏症、基因治療、Fabry disease、Gene therapy

Investigating the Therapeutic efficacy of GLA-IGF2 fusion enzyme with Pharmacological Chaperone ACK170 for Fabry disease

臨床醫學研究所

酵素蛋白、法布瑞氏症、α-半乳糖苷酶、Enzyme replacement therapy、lysosomal storage disease、Fabry、globotriaosylceramide、insulin-like growth factor、oxidative stress、ACK170

The association study of genetic polymorphism on A4GALT gene and clinical severity of cardiac-type Fabry disease

臨床醫學研究所

法布瑞氏症、IVS4+919G>A、A4GALT、單核苷酸多型性、Fabry disease、SNP

High Incidence Genetic Diseases in Taiwan. Part I: Molecular Studies of Homocystinuria. Part II: Improvement of the Sensitivity of Newborn Screening of Fabry disease Through a High-throughput and Cost-effective Method, DNA Mass Spectrometry, in Taiwan

臨床醫學研究所

高胱胺酸尿症、台灣、高半胱胺酸、法布瑞氏症、新生兒篩檢、homocystinuria、Taiwan、homocysteine、Fabry disease、Newborn screening

To develop a new pharmacological chaperones therapeutic strategy for Fabry disease by using Fabry disease mice model

臨床醫學研究所

法布瑞氏症、α半乳糖苷酶、鞘糖脂、藥理伴護分子、Fabry disease、GLA、Globotriaosylceramide、Pharmacological chaperone

To develop a fusion protein combined α-galactosidase A and insulin-like growth factor 2 for treatment of Fabry disease

臨床醫學研究所

法布瑞氏症、α半乳糖苷酶、鞘糖脂、非陽離子依賴型甘露糖六磷酸根受體、Fabry disease、GLA、Gb3、CI-M6PR

Later-onset Fabry Disease, Cardiac Damage Progress in Silence: Experience with a Highly Prevalent Mutation

臨床醫學研究所

晚發型法布瑞氏症、IVS4+919G>A、心臟纖維化、新生兒篩檢、酵素取代治療、later-onset Fabry disease、cardiac fibrosis、newborn screening、enzyme replacement therapy

Investigate the contribution of disturbed immune cell in the pathogenesis of Fabry disease

臨床醫學研究所・共同指導：徐嘉琳

法布瑞氏症、溶酶體、巨噬細胞、Fabry disease、Lysosome、Macrophage

The Analysis of Monocyte Toll-like Receptor Expressions in Newborns: Maturation and Functional Assay

臨床醫學研究所・共同指導：高毓儒

類鐸受器、新生兒、先天性免疫系統、Toll-like receptor、newborn、innate immune system

An Optimized Newborn Screening Protocol for Detection of Prevalent Fabry Disease Mutations.

臨床醫學研究所・共同指導：蔡世峯

法布瑞氏症、酵素活性、新生兒篩檢流程、次世代定序、Fabry disease、GLA、Newborn screening、Sequenom、NGS

Genetic study of hereditary retinitis pigmentosa

臨床醫學研究所

色素性視網膜炎、全基因體掃描、次世代定序、桿細胞、椎細胞、RP、homozygosity mapping、Genome-wide association study、Next generation sequencing、Rod photoreceptor、Cone photoreceptor

Human Genetic Diseases. Part I: Molecular Studies of Fabry Disease. Part II: Reactivation of Silenced Tumor Suppressor Genes via Changes in DNA Methylation by Targeting the Warburg Effect.

臨床醫學研究所

法布瑞氏症、肥厚性心肌病變、新生兒篩檢、前列腺癌、能量限制模仿劑、表觀遺傳學、Fabry disease、hypertrophic cardiomyopathy、newborn screening、prostate cancer、energy restriction-mimetic agent、epigenetics