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Fall 2012

Khorshidi, Azam

Anophthalmia is a genetically heterogeneous congenital disorder. By using homozygosity mapping in six individuals with anophthalmia from a consanguineous family, five homozygous regions more than one megabase (Mb) in size were identified, which together encompassed 18 Mb. Sequencing of...

Fall 2019

Christian, Susan

Background: There are currently knowledge gaps in our understanding of factors that influence a child’s journey through diagnosis and management of an inherited arrhythmia or cardiomyopathy. It is also unclear how age at diagnosis for one of these conditions impacts the physical,...

Fall 2012

Mercer, Rebecca E

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...

Fall 2014

Stach, Tara R

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...

Spring 2021

Fahed Elian

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...

Fall 2019

Carias, Karin Vanessa

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...

Fall 2016

Caddy, Jordan F

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...

Spring 2020

Alyenbaawi, Hadeel E

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...

Fall 2020

Hamid Maadi

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...

Spring 2016

Elian, Fahed Ah

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...