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Modeling Human Biology and Complex Diseases with iPSCs.

Record Type:	Electronic resources : Monograph/item
Title/Author:	Modeling Human Biology and Complex Diseases with iPSCs./
Author:	Ameen, Mohamed.
Description:	1 online resource (212 pages)
Notes:	Source: Dissertations Abstracts International, Volume: 84-10, Section: B.
Contained By:	Dissertations Abstracts International84-10B.
Subject:	Stem cells. -
Online resource:	http://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=30482723click for full text (PQDT)
ISBN:	9798379946845

Modeling Human Biology and Complex Diseases with iPSCs.
Ameen, Mohamed.

Modeling Human Biology and Complex Diseases with iPSCs. - 1 online resource (212 pages)

Source: Dissertations Abstracts International, Volume: 84-10, Section: B.

Thesis (Ph.D.)--Stanford University, 2023.

Includes bibliographical references

Human induced pluripotent stem cells (iPSCs) have been widely acknowledged in recent years as a model system for studying human disease and development. As part of my first project, we constructed a high-resolution regulatory atlas of the developing human fetal heart, defining important regulatory regions, such as enhancers, essential to cardiogenesis. Using a new deep learning model, we identified cell-type-specific de novo variants in predicted fetal human heart enhancers. We further used in vitro differentiated endothelial cells to validate the regulatory impact of a putative cell-type-specific enhancer predicted to harbor a deleterious congenital heart disorder (CHD) mutation. As part of my second project, we have created primate pluripotent stem cell-derived cardiomyocytes that mimic fetal cardiomyocytes in vitro to identify hundreds of ERV transcripts, including those regulated by TBX5. In particular, most of the significant RNAs found in primate fetal cardiomyocytes are located in BANCR, which is a long non-coding RNA (lncRNA) that is exclusively expressed from fetal cardiomyocytes. Based on functional studies, it has been demonstrated that BANCR promotes cardiomyocyte migration in vitro as well as ventricular enlargement in vivo. Our studies suggest that recently evolved TE loci like BANCR may serve as potent de novo regulatory elements capable of controlling developmental processes that can be studied with a pluripotent stem cell model.

Electronic reproduction.
Ann Arbor, Mich. :
ProQuest,
2023

Mode of access: World Wide Web

ISBN: 9798379946845Subjects--Topical Terms:

767761
Stem cells.
Index Terms--Genre/Form:

542853
Electronic books.

Modeling Human Biology and Complex Diseases with iPSCs.
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100 1 $a Ameen, Mohamed. $3 3703758
245 1 0 $a Modeling Human Biology and Complex Diseases with iPSCs.
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300 $a 1 online resource (212 pages)
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500 $a Source: Dissertations Abstracts International, Volume: 84-10, Section: B.
500 $a Advisor: Bhutani, Nidhi;Kundaje, Anshul;Morrison, Ashby J.
502 $a Thesis (Ph.D.)--Stanford University, 2023.
504 $a Includes bibliographical references
520 $a Human induced pluripotent stem cells (iPSCs) have been widely acknowledged in recent years as a model system for studying human disease and development. As part of my first project, we constructed a high-resolution regulatory atlas of the developing human fetal heart, defining important regulatory regions, such as enhancers, essential to cardiogenesis. Using a new deep learning model, we identified cell-type-specific de novo variants in predicted fetal human heart enhancers. We further used in vitro differentiated endothelial cells to validate the regulatory impact of a putative cell-type-specific enhancer predicted to harbor a deleterious congenital heart disorder (CHD) mutation. As part of my second project, we have created primate pluripotent stem cell-derived cardiomyocytes that mimic fetal cardiomyocytes in vitro to identify hundreds of ERV transcripts, including those regulated by TBX5. In particular, most of the significant RNAs found in primate fetal cardiomyocytes are located in BANCR, which is a long non-coding RNA (lncRNA) that is exclusively expressed from fetal cardiomyocytes. Based on functional studies, it has been demonstrated that BANCR promotes cardiomyocyte migration in vitro as well as ventricular enlargement in vivo. Our studies suggest that recently evolved TE loci like BANCR may serve as potent de novo regulatory elements capable of controlling developmental processes that can be studied with a pluripotent stem cell model.
533 $a Electronic reproduction. $b Ann Arbor, Mich. : $c ProQuest, $d 2023
538 $a Mode of access: World Wide Web
650 4 $a Stem cells. $3 767761
650 4 $a Cardiomyocytes. $3 3683753
650 4 $a Cellular biology. $3 3172791
650 4 $a Developmental biology. $3 592588
655 7 $a Electronic books. $2 lcsh $3 542853
690 $a 0379
690 $a 0758
710 2 $a ProQuest Information and Learning Co. $3 783688
710 2 $a Stanford University. $3 754827
773 0 $t Dissertations Abstracts International $g 84-10B.
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