자료유형  

 학위논문

Control Number  

0017162554

International Standard Book Number  

9798384075578

Dewey Decimal Classification Number  

574

Main Entry-Personal Name  

Teerikorpi, Nia.

Publication, Distribution, etc. (Imprint  

[S.l.] : University of California, San Francisco., 2024

Publication, Distribution, etc. (Imprint  

Ann Arbor : ProQuest Dissertations & Theses, 2024

Physical Description  

142 p.

General Note  

Source: Dissertations Abstracts International, Volume: 86-03, Section: B.

General Note  

Advisor: Panning, Barbara.

Dissertation Note  

Thesis (Ph.D.)--University of California, San Francisco, 2024.

Summary, Etc.  

요약Recent studies have identified over one hundred high-confidence autism spectrum disorder (ASD) genes and several hundred congenital heart disorder (CHD) genes. While CHD has been shown to commonly co-occur with autism spectrum disorder (ASD), the shared molecular mechanisms underlying this comorbidity remain unknown. Recent studies have shown that ASD gene perturbations commonly dysregulate neural progenitor cell (NPC) proliferation and neurogenesis. Our lab first sought to understand the extent to which the broader set of ASD genes are involved in this process and to identify the biological pathways underlying this convergence. Next, we investigated ASD and CHD shared risk by identifying CHD genes that present with a neurogenesis phenotype. In this dissertation we utilized CROP-Seq to repress a large subset of the known ASD genes in a human in vitro model of cortical neurogenesis. We reinforced neurogenesis and microtubule biology as points of convergence in ASD gene perturbations (Chapter 1). We then investigated shared risk between ASD and CHD by performing a neurogenesis screen involving ASD and CHD genes and determined that a subset of ASD and CHD genes play key roles in neuronal progenitor cell proliferation and are enriched for ciliary biology (Chapter 2). Overall, this work contributes to the growing literature on the developmental pathways disrupted in ASD and CHD. 

Subject Added Entry-Topical Term  

Molecular biology.

Subject Added Entry-Topical Term  

Biochemistry.

Subject Added Entry-Topical Term  

Biomedical engineering.

Subject Added Entry-Topical Term  

Neurosciences.

Subject Added Entry-Topical Term  

Biology.

Index Term-Uncontrolled  

Autism spectrum disorder

Index Term-Uncontrolled  

Ciliary biology

Index Term-Uncontrolled  

Congenital heart disease

Index Term-Uncontrolled  

CRISPRi

Index Term-Uncontrolled  

Tubulin

Added Entry-Corporate Name  

University of California, San Francisco Biochemistry and Molecular Biology

Host Item Entry  

Dissertations Abstracts International. 86-03B.

Electronic Location and Access  

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Control Number  

joongbu:658279