ERA

Download the full-sized PDF of GDF11 in Ocular Development and MOTA MappingDownload the full-sized PDF

Analytics

Share

Permanent link (DOI): https://doi.org/10.7939/R3HK71

Download

Export to: EndNote  |  Zotero  |  Mendeley

Communities

This file is in the following communities:

Graduate Studies and Research, Faculty of

Collections

This file is in the following collections:

Theses and Dissertations

GDF11 in Ocular Development and MOTA Mapping Open Access

Descriptions

Other title
Subject/Keyword
Manitoba Oculotrichoanal syndrome
FREM1
GDF11
Type of item
Thesis
Degree grantor
University of Alberta
Author or creator
Mateo, Robertino RKP
Supervisor and department
Lehmann, Ordan (Ophthalmology & Medical Genetics )
Examining committee member and department
Waskiewicz, Andrew (Biological Sciences)
Allison, Ted (Biological Sciences & Medical Genetics)
Hughes, Sarah (Medical Genetics)
Department
Medical Sciences-Medical Genetics
Specialization

Date accepted
2012-05-28T15:10:00Z
Graduation date
2012-11
Degree
Master of Science
Degree level
Master's
Abstract
Vision relies on the ability of the eye to receive, process, and send signals to the brain for interpretation. To perform these functions, the eye must properly form during embryogenesis which requires the interaction of genes encoding proteins with various functions during development such as cellular differentiation, migration, and proliferation. In this thesis, I investigate ocular formation and disease. One project assesses the role of gdf11 in a zebrafish animal model to study the eye formation. I also explore the effect of human GDF11 sequence variants in ocular disorders. The second project involves mapping a genomic interval responsible for an autosomal recessive disorder known as Manitoba Oculotrichoanal syndrome. The interval detected is in the vicinity of FREM1, whose paralogs cause Fraser Syndrome, a disease with phenotypic overlaps. Understanding the molecular basis of ocular diseases can aid the development of new methods to potentially better manage, treat, and reduce their occurrences.
Language
English
DOI
doi:10.7939/R3HK71
Rights
Permission is hereby granted to the University of Alberta Libraries to reproduce single copies of this thesis and to lend or sell such copies for private, scholarly or scientific research purposes only. Where the thesis is converted to, or otherwise made available in digital form, the University of Alberta will advise potential users of the thesis of these terms. The author reserves all other publication and other rights in association with the copyright in the thesis and, except as herein before provided, neither the thesis nor any substantial portion thereof may be printed or otherwise reproduced in any material form whatsoever without the author's prior written permission.
Citation for previous publication

File Details

Date Uploaded
Date Modified
2014-04-29T21:03:38.788+00:00
Audit Status
Audits have not yet been run on this file.
Characterization
File format: pdf (Portable Document Format)
Mime type: application/pdf
File size: 3019436
Last modified: 2015:10:12 19:54:38-06:00
Filename: Mateo_Robertino_Fall 2012.pdf
Original checksum: 068fc061f00c6ee96fcfd427edb31dbc
Well formed: false
Valid: false
Status message: Unexpected error in findFonts java.lang.ClassCastException: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject cannot be cast to edu.harvard.hul.ois.jhove.module.pdf.PdfDictionary offset=2957
Status message: Invalid Annotation list offset=2875629
File language: en-US
Activity of users you follow
User Activity Date