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Articles 1 - 5 of 5
Full-Text Articles in Congenital, Hereditary, and Neonatal Diseases and Abnormalities
When Problems Become Solutions: Harnessing The Osteogenic Capacity Of Disease-Causing Stem Cells To Repair Bone Fractures, Mehreen Pasha
When Problems Become Solutions: Harnessing The Osteogenic Capacity Of Disease-Causing Stem Cells To Repair Bone Fractures, Mehreen Pasha
Honors Scholar Theses
While we often perceive disease as negative, there is potential to engineer seemingly negative biological phenomena into therapeutics to treat a variety of human illnesses. Fibrodysplasia ossificans progressiva (FOP) is a genetic disorder involving uncontrolled, widespread, extraskeletal bone growth, or heterotopic ossification (HO). In FOP patients, stem cells called fibro/adipogenic progenitors (FAPs) follow an abnormal, osteogenic pathway. In the present study, we investigate whether we can adapt these Acvr1 mutant FAPs, which are exceptional at producing bone, to repair bone fractures in otherwise normal patients. The primary aims of this study are (1) to devise and optimize a novel method …
The Effects Of Mapk Signaling On The Development Of Cerebellar Granule Cells, Kerry Morgan
The Effects Of Mapk Signaling On The Development Of Cerebellar Granule Cells, Kerry Morgan
Honors Scholar Theses
The granule cells are the most abundant neuronal type in the human brain. Rapid proliferation of granule cell progenitors results in dramatic expansion and folding of the cerebellar cortex during postnatal development. Mis-regulation of this proliferation process causes medulloblastoma, the most prevalent childhood brain tumor. In the developing cerebellum, granule cells are derived from Atoh1-expressing cells, which arise from the upper rhombic lip (the interface between the roof plate and neuroepithelium). In addition to granule cells, the Atoh1 lineage also gives rise to different types of neurons including cerebellar nuclei neurons. In the current study, I have investigated the …
Use Of Antisense Oligonucleotides To Target Notch2 In Mouse Chondrocytes, Gabrielle Viviana Lanza
Use Of Antisense Oligonucleotides To Target Notch2 In Mouse Chondrocytes, Gabrielle Viviana Lanza
Honors Scholar Theses
NOTCH2 is a transmembrane receptor that is part of the Notch receptor family, known for controlling cell differentiation and function. Notch receptors play a crucial role in skeletal development and bone homeostasis. Hajdu Cheney Syndrome (HCS) is a rare monogenic disorder affecting the skeleton caused by a gain-of-function mutation in NOTCH2. Antisense oligonucleotides (ASO) are sequence-specific single-stranded nucleic acids that bind to target mRNA and initiate mRNA degradation. While previous work has explored the role of Notch2 ASOs in osteoblasts and osteoclasts, this paper explores the role of Notch2 and Notch2 ASOs in cells of cartilage tissue. The effect of …
Screening And Diagnosing Spinal Muscular Atrophy By Use Of Buccal Swabs: A Validation Study Using Ddpcr, Anna Mackay
Screening And Diagnosing Spinal Muscular Atrophy By Use Of Buccal Swabs: A Validation Study Using Ddpcr, Anna Mackay
Honors Scholar Theses
Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disorder characterized by progressive muscle weakness due to the degeneration of motor neurons. SMA is caused by a homozygous deletion, mutation or rearrangement in the Survival Motor Neuron 1 (SMN1) gene. Survival Motor Neuron 2 (SMN2) is located tandem to SMN1 and is identical to SMN1 except for a single nucleotide substitution in exon 7. SMA diagnosis and carrier status can be determined by droplet digital PCR (ddPCR). This study sought to validate Bio-Rad’s ddPCR SMN1and SMN2 gene determination copy number assay for SMA diagnosis and screening using buccal swabs specimens. Buccal …
Embryonic Lethality Of Cranial Neural Crest Deletion Of Cdc73, Lilia Shen
Embryonic Lethality Of Cranial Neural Crest Deletion Of Cdc73, Lilia Shen
Honors Scholar Theses
Hyperparathyroidism-jaw tumor (HPT-JT) syndrome is a disease characterized by parathyroid tumors, renal cysts or tumors, uterine tumors, and ossifying jaw fibromas. The cause of this syndrome is linked to a tumor suppressor gene called Cdc73, which encodes the protein product parafibromin. The loss of proper expression of Cdc73/parafibromin is implicated in the development of the tumors typical of HPT-JT, although the exact mechanisms of tumorigenesis are unclear. In particular, not much is understood about the development of ossifying fibromas (OF) of the jaw in this syndrome. OF is a benign bone neoplasm that can affect the mandible and …