Browsing University of Galway Theses by Author "Shen, Sanbing"
Now showing items 1-8 of 8
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A bioinformatic approach to the genetics, human cell models and animal models of autism spectrum disorder
Reilly, Jamie (NUI Galway, 2021-09-17)Autism Spectrum Disorder (ASD) is a group of complex neurodevelopmental disorders with diverse clinical manifestations and symptoms. In the last 10 years, there have been significant advances in understanding the genetic ... -
Developing and characterizing cellular models for neurodegenerative diseases.
Madill, Martin (2016-05-13)The focus of this work was to develop and validate in vitro cell culture models of neurodegenerative diseases, with a focus on Amyotrophic Lateral Sclerosis (ALS). ALS is a devastating neurodegenerative disease characterized ... -
Human induced pluripotent stem cells as a model for neurodevelopmental disease
Mc Donagh, Katya (2015-10-01)Abstract Autism spectrum disorders (ASD) are neurodevelopmental disorders which encompass a wide range of symptoms, including intellectual disability and delayed development, while the phenotype can range from mild to ... -
Human induced pluripotent stem cells as an in vitro model for autism spectrum disorder
Ding, Yicheng (NUI Galway, 2022-08-23)Autism spectrum disorders (ASD) are neurodevelopmental disorders which encompass a wide range of symptoms, including intellectual disability and delayed development, while the phenotype can range from mild to severe. Genetic ... -
Human stem cell modelling for heart disease of long QT syndrome
Ge, Ning (NUI Galway, 2022-04-29)Sudden cardiac death (SCD) in otherwise healthy young people is a public health priority. Long QT syndrome (LQTS) is the commonest life-threatening cardiac arrhythmia contributing to SCD under 40 years old with an estimated ... -
Modelling human brain circuitry in patients with KCNQ2-Developmental Epileptic Encephalopathy using induced pluripotent stem cells
Stewart, Rachel (NUI Galway, 2023-10-16)Mutations (pathogenic variants) in KCNQ2, which encode the voltage-dependent K+ channel Kv7.2 (responsible for neuronal M-current) can cause developmental epileptic encephalopathy (DEE), a disorder presenting with ... -
Roles of a novel serine/threonine protein kinase Ulk4 in mouse brain development and functions
Liu, Min (2016-05-03)SUMMARY UNC-51-like kinase 4 (ULK4) is a novel gene encoding a potential serine/threonine kinase (STK), and little is known about its functions. Limited studies have been carried out so far, and most of the current 12 ... -
Stem cell modelling for the role of NRXN1 deletion in Autism Spectrum Disorder
Avazzadeh, Sahar (NUI Galway, 2018-12-21)Autism spectrum disorder (ASD), a multi-factorial disease, often has co-morbidity with epilepsy, which is associated with excessive neuronal firing. The pre-synaptic protein Neurexin1 (NRXN1) signals bi-directionally through ...