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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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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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Investigation of the Prader-Willi syndrome protein MAGEL2 in the regulation of Forkhead box transcription factor FOXO1
DownloadSpring 2013
Prader-Willi syndrome (PWS), a genetic disorder resulting from the loss of expression of multiple genes including MAGEL2, is characterized by hyperphagia and childhood-onset obesity. These symptoms point to dysfunction in the regulation of energy homeostasis. Magel2 is highly expressed in the...
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Spring 2020
Even though extensive research over recent decades has increased our understanding of the key steps in pancreatic development and gene regulatory networks involved in pancreatic cell specification and maturation, it is well accepted that a more detailed understanding of pancreatic development is...
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MAGEL2 regulates leptin receptor internalization through ubiquitination pathways involving USP8 and RNF41
DownloadSpring 2017
Children with Prader-Willi syndrome have neonatal feeding difficulties, developmental delay and excessive appetite. Loss of MAGEL2 alone causes a related neurodevelopmental disorder (Schaaf-Yang syndrome) and may contribute to obesity in children with Prader-Willi syndrome who lack MAGEL2 and...
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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...
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Fall 2020
Introduction The Dlx1/Dlx2 double knockout (DKO) mouse exhibits major defects in forebrain development including a block in differentiation and migration of GABAergic interneurons from the subpallium to the cortex. In addition, the Dlx1/Dlx2 DKO mouse generates more oligodendrocyte progenitor...
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REGULATION OF THE BMI1 AND RET PROTO-ONCOGENES BY THE DLX2 TRANSCRIPTION FACTOR IN THE DEVELOPING GASTRO-INTESTINAL TRACT
DownloadFall 2017
The Dlx1/Dlx2 double knockout (DKO) mouse dies at P0 with a cleft palate and a distended abdomen. Within the intestinal crypts of Leiberkuhn a stable, non-dividing stem cell group is marked by the oncogene BMI1. Unpublished data from the Eisenstat laboratory demonstrates co-expression of BMI1 and...
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Spring 2019
AbstractNervous system development is a highly regulated and complex process in which neurons and glial cells are generated and through migration arrive at their final destinations. Dlx genes are required for central neural development. They encode transcription factors that bind to TAAT/ATTA...
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Fall 2023
Multiple sclerosis (MS) is a degenerative disorder of the central nervous system that is triggered in genetically predisposed individuals by environmental insults. In MS, the body’s own immune cells attack and damage myelin and the myelin-producing cells, oligodendrocytes. Genetic factors...
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Fall 2023
Phosphoinositides (PIs) are membrane lipids that function as signaling molecules. PIs undergo phosphorylation and dephosphorylation at various positions to produce the seven known PI molecules. PIKfyve is a phosphoinositide kinase that produces phosphoinositide-3,5- bisphosphate (PI(3,5)P2) and...