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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 2012
Prader-Willi Syndrome (PWS) is a neurodevelopmental disorder that results from the loss of several paternally expressed genes on chromosome 15q11-q13. People with PWS have an array of phenotypes including hypotonia and early failure to thrive, hypogonadism and infertility, growth hormone...
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The Role of Forkhead Box Transcription Factors in Zebrafish Ocular Development and the Superior Ocular Fissure
DownloadFall 2014
Ocular development is a tightly orchestrated process that is dependent upon precise environmental and genetic factors. Disruption of this can result in microphthalmia, anophthalmia and coloboma (MAC), which is a spectrum of congenital ocular disease with lifelong consequences affecting sight. In...
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Spring 2021
The transcription factors FOXC1, FOXQ1, and FOXF2 (FOX cluster on chromosome 6) are members of the forkhead family that play a role in a plethora of biological processes during development and tumorigenesis. Emerging studies in the last decade have suggested a role of the FOX cluster in breast...
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The Role of MAGEL2 in Ubiquitination Pathways and its Contribution to Prader-Willi and Schaaf-Yang Syndromes
DownloadFall 2019
The MAGEL2 gene is implicated in two neurodevelopmental disorders: Prader-Willi syndrome (PWS) and Schaaf-Yang syndrome (SYS). PWS is characterized by intellectual disability, obesity, poor muscle tone, distinct facial features, excessive daytime sleepiness and nighttime wakening. PWS is a...
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Transcription Factor FOXC1 Deregulates BMP-SMAD Signalling During Osteoblast Differentiation
DownloadFall 2016
Skeletal development is a tightly regulated process that continues through adulthood in the form of bone remodeling. Many bones of the appendicular and axial skeleton develop using a cartilage intermediate in a process called endochondral ossification. The cranial and flat bones of the skeleton...
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Understanding Prion-like Mechanisms of Tauopathy in Traumatic Brain Injury Using Novel in vivo Models
DownloadSpring 2020
Traumatic brain injury (TBI) is broadly acknowledged as a source of mortality and disability worldwide. It is one of the key risk factors resulting in neurodegeneration and the development of dementia. TBI has been shown to be associated with diseases such as chronic traumatic encephalopathy...
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Understanding the effects of therapeutic HER2 antibodies trastuzumab and pertuzumab on HER2-mediated cell signaling
DownloadFall 2020
The ErbB family of receptor tyrosine kinases, also called the HER receptors, consists of four members including epithelial growth factor receptor (EGFR), erbB2 (HER2), erbB3 (HER3), and erbB4 (HER4). HER2 overexpression has been reported in 20-30% of breast cancer cells and is responsible for...
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Understanding the Mode of Action of Trastuzumab to Design a Better Therapy for ErbB2-positive Human Breast Cancer
DownloadSpring 2016
Overexpression of ErbB2 occurs in about 25-30% of breast cancer cases and therefore, represents an attractive therapeutic target for treating breast cancer. There are two models for ErbB2 inhibitors that are currently in clinical use: humanized antibodies directed against ErbB2 and small molecule...
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Fall 2022
Endochondral ossification is a skeletal development process where mesenchymal progenitors differentiate into chondrocytes that will be eventually replaced by bone. Disrupting this process causes skeletal dysplasia. FOXC1 and FOXC2 are two transcription factors of the forkhead box family that...
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Using a Zebrafish Animal Model to Identify the First Candidate Gene for Pigmentary Glaucoma
DownloadSpring 2019
Premelanosome protein (PMEL) was identified as a candidate gene for the development of pigment dispersion syndrome (PDS) and pigmentary glaucoma (PG) in humans. Mutations in PMEL were shown to cause pigment and ocular defects in several animals but there is currently no known PMEL associated...