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University of Cincinnati

1. Cowan, Jason R. The Genetics of Heterotaxy Syndrome.

Degree: PhD, Medicine: Molecular and Developmental Biology, 2015, University of Cincinnati

Congenital heart defects (CHDs) are the greatest cause of infant morbidity and mortality worldwide, occurring in roughly 8 per 1000 live births (~1%). Heterotaxy, a multiple congenital anomaly syndrome resulting from failure to establish left-right (L-R) asymmetry, is characterized by diverse, complex CHDs. Heterogeneous in presentation and etiology, heterotaxy serves as a complex and growing focal point for cardiovascular genetic research.In the two decades since the zinc finger transcription factor,<i> ZIC3</i>, was first identified as a cause of X-linked heterotaxy, mutations in nearly twenty genes with L-R patterning functions have been detected among patients with heterotaxy. Nevertheless, despite considerable progress, genetic causes for heterotaxy remain largely uncharacterized. With an estimated 70-80% of heterotaxy cases still unexplained, there remains enormous potential for novel gene discovery.In this dissertation, we have balanced gene discovery efforts aimed at identifying and characterizing novel causes of heterotaxy with studies into the mechanisms governing <i>ZIC3</i>-related heterotaxy. In order to identify novel genetic causes of heterotaxy, array-based single nucleotide polymorphism (SNP) and comparative genomic hybridization (CGH) screens for copy number variation (CNVs) were completed in a large and carefully phenotyped cohort of 225 patients with heterotaxy and CHDs. Identified CNVs with pathogenic potential ranged in size from large unbalanced translocations to smaller, kilobase-scale abnormalities. Over 35 rare CNVs were found to encompass 165 genes of possible interest as heterotaxy candidates. Top candidates were screened for L-R patterning functions by morpholino loss of function experiments in <i>Xenopus laevis</i>. We describe results from these analyses and identify the platelet isoform of phosphofructokinase-1 (PFKP) as a novel genetic cause of heterotaxy. Results from these studies collectively confirm a high yield for array-based testing of patients with heterotaxy, and support use of these technologies for identification of novel causative genes. Previous genetic analyses have suggested that nearly 75% of all X-linked familial and 1% of all sporadic heterotaxy cases can be attributed to mutations in ZIC3. To date, most reported mutations have been identified in five tandemly repeated zinc finger domains in the first two exons. Many of these mutations have demonstrated functional consequences in ZIC3 nuclear transactivation and subcellular localization. The pathogenic potentials of flanking N- and C-terminal mutations are, however, less certain. Therefore, in order to further define the functional significance of mutations occurring throughout the ZIC3 gene, the full ZIC3 coding region and associated splice junctions was sequenced in a cohort of 440 unrelated patients with assorted situs anomalies and CHDs. Of the 11 mutations identified, 8 were novel, including 5 occurring in non-zinc finger domains. For functional studies, we supplemented these 11 mutations with 4 previously… Advisors/Committee Members: Ware, Stephanie (Committee Chair).

Subjects/Keywords: Genetics; heterotaxy; PFKP; ZIC3; left-right patterning; genetics; copy number variation

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

APA (6th Edition):

Cowan, J. R. (2015). The Genetics of Heterotaxy Syndrome. (Doctoral Dissertation). University of Cincinnati. Retrieved from http://rave.ohiolink.edu/etdc/view?acc_num=ucin1447689122

Chicago Manual of Style (16th Edition):

Cowan, Jason R. “The Genetics of Heterotaxy Syndrome.” 2015. Doctoral Dissertation, University of Cincinnati. Accessed September 21, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1447689122.

MLA Handbook (7th Edition):

Cowan, Jason R. “The Genetics of Heterotaxy Syndrome.” 2015. Web. 21 Sep 2020.

Vancouver:

Cowan JR. The Genetics of Heterotaxy Syndrome. [Internet] [Doctoral dissertation]. University of Cincinnati; 2015. [cited 2020 Sep 21]. Available from: http://rave.ohiolink.edu/etdc/view?acc_num=ucin1447689122.

Council of Science Editors:

Cowan JR. The Genetics of Heterotaxy Syndrome. [Doctoral Dissertation]. University of Cincinnati; 2015. Available from: http://rave.ohiolink.edu/etdc/view?acc_num=ucin1447689122


Australian National University

2. Benson, Tracey. Cross Connections: Online Activism, Real World Outcomes .

Degree: 2010, Australian National University

This research paper examines the role of the Internet as it relates to the development of social movements and political protest in the ‘physical’ world. It also analyses the role of independent media and reporting methodologies used by activists and net-artists. The emergence of online activism and an emphasis on collaboration, information sharing and open source tools also had a significant impact on new media arts discussions and aesthetics. The refugee activist movement in Australia is a key case study in this thesis, as it is an excellent example of how activists have used the Internet and WWW to garner support within the community and to engage people to come to protests. In addition, activists at the protests have reported these events on the WWW and this subject has also had a resounding impact within the context of contemporary and media arts. The implications of identity online is a major factor in constructing the arguments in this thesis, as the relationship between ‘real’ and ‘virtual’ space is explored in detail as it relates to personal identity and online community.

Subjects/Keywords: Internet; World Wide Web; Accessibility; Activism; Social Relations; Social Justice; Hacktivists; Online; Hackers; Identity; Net Activism; Tactical Media; Web Design; Virtuality; Virtual Communities; Refugee; Borders; Alienation; Censorship; Blogging; Mass Media; Copy-left; Open Source Publishing; Produser; Indymedia; Net Arts; Digital Archives; You Tube; Facebook; Social Networking; Digital Aesthetics

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

APA (6th Edition):

Benson, T. (2010). Cross Connections: Online Activism, Real World Outcomes . (Thesis). Australian National University. Retrieved from http://hdl.handle.net/1885/147416

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):

Benson, Tracey. “Cross Connections: Online Activism, Real World Outcomes .” 2010. Thesis, Australian National University. Accessed September 21, 2020. http://hdl.handle.net/1885/147416.

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

MLA Handbook (7th Edition):

Benson, Tracey. “Cross Connections: Online Activism, Real World Outcomes .” 2010. Web. 21 Sep 2020.

Vancouver:

Benson T. Cross Connections: Online Activism, Real World Outcomes . [Internet] [Thesis]. Australian National University; 2010. [cited 2020 Sep 21]. Available from: http://hdl.handle.net/1885/147416.

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

Council of Science Editors:

Benson T. Cross Connections: Online Activism, Real World Outcomes . [Thesis]. Australian National University; 2010. Available from: http://hdl.handle.net/1885/147416

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

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