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Skip to Search Results- 1Abdrabou, Abdalla
- 1Abeysundara, Namal W
- 1Almubarak, Asra
- 1Alyenbaawi, Hadeel E
- 1Arnold, Kirsten J
- 1Attia, Karen
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Fall 2017
Axenfeld-Rieger syndrome (ARS) is an autosomal-dominant inherited disorder that primarily affects the development of structures in the anterior segment of the eye. Approximately half of patients with ARS develop glaucoma, a progressively blinding condition associated with increased intraocular...
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Fall 2013
Axenfeld-Rieger syndrome (ARS) is a rare developmental disease that affects structures in the anterior segment of the eye. Approximately 50% of ARS patients develop glaucoma, a progressively blinding condition. Although glaucoma is an aging-related disease, ARS patients usually have earlier-onset...
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Fall 2021
Facioscapulohumeral muscular dystrophy (FSHD) and Duchenne muscular dystrophy (DMD) are two of the most commonly inherited muscular disorders in the world. There is currently no cure for both of them. Antisense oligonucleotides (AOs) are short, synthetic, single-stranded nucleic acids that...
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Fall 2014
An individual’s body weight is tightly regulated by balancing food intake with energy expenditure. This is accomplished in part by secretion of the hormone leptin by adipocytes, an excess of which signals to reduce appetite and increase activity through action in the hypothalamic region of the...
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Fall 2018
The muscular dystrophies are a heterogeneous group of over 30 genetic diseases which are characterized by progressive weakening and deterioration of muscle tissue and which vary with respect to age of onset, pattern of muscle involvement, and severity. To date, no effective therapeutic options...
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Drosophila Mage, a component of Smc5/6 DNA response complex, confers resistance to caffeine and genotoxic stress and plays a role in the cell cycle and cell survival
DownloadFall 2014
Over 50 Melanoma-associated antigen (MAGE) genes have been identified in the human genome. They share a conserved 200 amino acid MAGE-homology domain (MHD). In yeast, the only MAGE homolog (Nse3) is a component of the Smc5/6 DNA damage response complex. In humans, MAGE proteins influence cell...
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Fall 2016
Spinal muscular atrophy (SMA) is one of the most common autosomal recessive neuromuscular disorders affecting the motor neurons, which usually has an early onset resulting in a rapid progression of muscle weakness, leading to death at a young age. SMA is caused by a homozygous mutation of...
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Spring 2016
Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disorder characterized by early involvement of muscle weakness. FSHD is most commonly caused by a deletion of a subset of D4Z4 macrosatellite repeats at the locus located on chromosome 4q35. Within each D4Z4 repeat unit is a double...
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Form and Function of Photoreceptors in kcnv2 Mutant Zebrafish: Implications for the Human Disease KCNV2 Retinopathy
DownloadFall 2020
KCNV2 retinopathy is a rare inherited retinal disease caused by mutations in the gene KCNV2, which encodes the potassium channel subunit KV8.2. Expressed by photoreceptors, KV8.2 is a critical component for the efficient generation of a neural response to light. KCNV2 retinopathy is characterized...
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Functional Characterization of a Homozygous TRAF6 Mutation Causing NF-κB Signaling Defects and Human Immunodeficiency Disease
DownloadFall 2018
As many as 80,000 Albertans are affected by rare diseases; with the greatest prevalence in children such diseases dramatically impact the lives of both those suffering and the families caring for them. Severe combined immunodeficiency (SCID) represents a group of inherited disorders characterized...