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Characterization of the Protein Interaction Networks of Necdin and MAGEL2: Insight into How Loss of These Proteins Contributes to Neurodevelopmental Disease
DownloadFall 2020
Prader-Willi Syndrome (PWS) is a neurocognitive developmental disorder that is caused by the deletion or inactivation of paternal genes in the chromosomal region 15q11-q13. The MAGEL2 and NDN (encoding necdin) genes are within the deleted region. Individuals with PWS tend to be obese due to...
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Investigating the Relationship Between LUNATIC FRINGE Variants and Spondylocostal Dysostosis Type-III
DownloadFall 2024
The vertebral column’s bilateral symmetry plays a crucial role in respiration, ambulation, and weight bearing. Scoliosis, a lateral curvature of the spine of >10°, disrupts this anatomy and can lead to pain, poor quality of life, and in severe cases, mortality. The prevalence of scoliosis is...
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Non-Synonymous Variants in the Premelanosome Protein (PMEL) Gene are Associated with Pigment Dispersion Syndrome/Pigmentary Glaucoma and Cause Biochemical Defects
DownloadFall 2018
Pigmentary Glaucoma (PG) is a common glaucoma subtype that results from release of pigment from the iris (Pigment Dispersion Syndrome) and its deposition throughout the anterior chamber of the eye. Although PG has a substantial heritable component, no causative gene variants have yet been...