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You searched for subject:(cystogenesis). Showing records 1 – 2 of 2 total matches.

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Vanderbilt University

1. Armour, Eric Andrew. Dysregulated mTOR signaling and tissue-specific phenotypes in Tuberous Sclerosis Complex.

Degree: PhD, Cell and Developmental Biology, 2013, Vanderbilt University

Tuberous Sclerosis Complex (TSC) is a multi-organ hamartomatous disease caused by loss of function mutations in either the TSC1 or TSC2 genes. Despite involvement of multiple organs such as the kidneys, lungs, and skin, neurological aspects are usually the most severe due to a very high prevalence of cognitive impairment, autism and epilepsy. The protein products of TSC1 and TSC2, hamartin and tuberin respectively, regulate the mTOR kinase signaling pathway. Current models of TSC propose that hamartoma formation is secondary to a loss of heterozygosity at either the TSC1 or TSC2 loci, and subsequent hyperactivation of mTOR Complex 1 (mTORC1). In this dissertation I explore the underlying mechanisms of organ specific pathogenesis in TSC. In the first half of my dissertation, I demonstrate that loss of Tsc1 in the distal convoluted tubule of the kidney results in cystogenesis. Cyst formation in these kidneys is due to a mTORC1 but not mTORC2 dependent process. I then show that cystic changes in these kidneys may be due to ciliary defects. While a loss of heterozygosity has clearly been reported in the kidney and other organ system, second hit mutations in neural lesions have only rarely been identified. Thus, to begin to define the role of the heterozygosity of TSC1 or TSC2 during the pathogenesis of TSC in the brain, we generated induced pluripotent stem cells (iPSC) from patients with TSC. Deep sequencing of these patents revealed that all of our patient derived lines are heterozygous for TSC2 mutations. I then provide evidence that these heterozygous iPSCs are abnormal with increased cell survival and enhanced maintenance of pluripotency. These changes may be due to slight changes in mTORC1 signaling. The work presented in this dissertation increases our understanding of the tissue specific phenotypes and underlying mechanisms of TSC pathogenesis. This research may lead to the identification of new therapeutic targets for TSC and associated comorbidities. Advisors/Committee Members: Alfred L. George (committee member), Maureen A. Gannon (committee member), Wenbiao Chen (committee member), Kevin C. Ess (committee member), Chin Chiang (Committee Chair).

Subjects/Keywords: TSC; pluripotency; Tuberous Sclerosis; cilia; cystogenesis; mTOR

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Armour, E. A. (2013). Dysregulated mTOR signaling and tissue-specific phenotypes in Tuberous Sclerosis Complex. (Doctoral Dissertation). Vanderbilt University. Retrieved from http://hdl.handle.net/1803/14546

Chicago Manual of Style (16th Edition):

Armour, Eric Andrew. “Dysregulated mTOR signaling and tissue-specific phenotypes in Tuberous Sclerosis Complex.” 2013. Doctoral Dissertation, Vanderbilt University. Accessed January 19, 2021. http://hdl.handle.net/1803/14546.

MLA Handbook (7th Edition):

Armour, Eric Andrew. “Dysregulated mTOR signaling and tissue-specific phenotypes in Tuberous Sclerosis Complex.” 2013. Web. 19 Jan 2021.

Vancouver:

Armour EA. Dysregulated mTOR signaling and tissue-specific phenotypes in Tuberous Sclerosis Complex. [Internet] [Doctoral dissertation]. Vanderbilt University; 2013. [cited 2021 Jan 19]. Available from: http://hdl.handle.net/1803/14546.

Council of Science Editors:

Armour EA. Dysregulated mTOR signaling and tissue-specific phenotypes in Tuberous Sclerosis Complex. [Doctoral Dissertation]. Vanderbilt University; 2013. Available from: http://hdl.handle.net/1803/14546


Université de Montréal

2. Côté, Olivier. Analyse fonctionnelle de la polycystine-1 et de son domaine intracellulaire dans le développement de la polykystose rénale autosomique dominante.

Degree: 2009, Université de Montréal

Subjects/Keywords: Pkrad; Adpkd; Pkd1; Coiled-coil; Kystogenèse; Cystogenesis; Biology - Molecular / Biologie - Biologie moléculaire (UMI : 0307)

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Côté, O. (2009). Analyse fonctionnelle de la polycystine-1 et de son domaine intracellulaire dans le développement de la polykystose rénale autosomique dominante. (Thesis). Université de Montréal. Retrieved from http://hdl.handle.net/1866/3204

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Côté, Olivier. “Analyse fonctionnelle de la polycystine-1 et de son domaine intracellulaire dans le développement de la polykystose rénale autosomique dominante.” 2009. Thesis, Université de Montréal. Accessed January 19, 2021. http://hdl.handle.net/1866/3204.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Côté, Olivier. “Analyse fonctionnelle de la polycystine-1 et de son domaine intracellulaire dans le développement de la polykystose rénale autosomique dominante.” 2009. Web. 19 Jan 2021.

Vancouver:

Côté O. Analyse fonctionnelle de la polycystine-1 et de son domaine intracellulaire dans le développement de la polykystose rénale autosomique dominante. [Internet] [Thesis]. Université de Montréal; 2009. [cited 2021 Jan 19]. Available from: http://hdl.handle.net/1866/3204.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Côté O. Analyse fonctionnelle de la polycystine-1 et de son domaine intracellulaire dans le développement de la polykystose rénale autosomique dominante. [Thesis]. Université de Montréal; 2009. Available from: http://hdl.handle.net/1866/3204

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

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