Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
Results
Showing 1 to 17 of 17 for “"osteogenesis imperfecta"”.
-
Understanding Hearing Loss in Osteogenesis Imperfecta
… is a common yet understudied manifestation of osteogenesis imperfecta (OI), a hereditary disease of the connective tissues caused by mutations in collagen type I. The hallmark of OI is bone fragility, leading to frequent fractures in childhood that tend to decrease after puberty. Hearing loss …
-
Skeletal muscle weakness and mitochondrial dysfunction in the osteogenesis imperfecta murine (oim) model
Osteogenesis imperfecta (OI), also commonly referred to as brittle bone disease, is a heritable connective tissue disorder occurring in roughly 1:15,000 births. OI arises as a result of mutations in the type I collagen genes, COL1A1 and COL1A2, approximately 85 % of the time with the remaining 15 % …
-
Procollagen Biosynthesis and Osteoblast Malfunction in the G610C Mouse Model of Osteogenesis Imperfecta
Osteogenesis imperfecta (OI) is a hereditary disease that disrupts bone formation and function resulting in skeletal deformities and fragile bones. OI is diagnosed based on clinical and radiological examination, with patient symptoms ranging in severity from relatively mild (increased incidence of …
-
Assessment of Dental Anomalies and Potential Application of Optical Coherence Tomography in Pediatric Patients with Osteogenesis Imperfecta
L'abstract è presente nell'allegato / the abstract is in the attachment
-
The Interplay Between Bone Homeostasis, Permeability, and Fracture Toughness
… understand bone fragility origins, we focus on osteogenesis imperfecta, a genetic disorder marked by defective collagen, abnormal mineralization, and increased porosity. Our findings indicate that osteogenesis imperfecta presents distinct features depending on biological sex, and that in healthy …
-
Dental implications of inherited connective tissue disorders in South Africa
The prevalence of Osteogenesis imperfecta type III (OI III) as a category of the inherited connective tissue disorders in South Africa is of paramount importance. Although worldwide, autosomal recessive(AR) OI is rare, it had emerged that the frequency of OI III is relatively high in the indigenous …
-
Type I collagen proteostasis
… collagen variants cause disease, including osteogenesis imperfecta in the case of collagen-I variants. The origins of pathology in osteogenesis imperfecta and the other collagenopathies are still debated, but what is clear is that collagen proteostasis is strongly disrupted. In this thesis, …
-
Understanding collagen-l folding and misfolding
Chapter One: Introduction to Type I Collagen and Osteogenesis Imperfecta Collagen-I is the primary proteinaceous component of skin, bone, and tendon. Disruptions in collagen-I homeostasis, typically due to non-synonymous mutations in collagen-- encoding genes, cause a variety of severe incurable …
-
Effects of type-I collagen fractional composition and pyridinium crosslink content on cortical bone strength in the human femur
… by studies in genetic diseases such as Osteogenesis Imperfecta. Type-I collagen's role in healthy bone, and the changes that occur to collagen during aging, which may eventually lead to osteoporosis, is less understood. Changes that may occur include differences in collagen production …
-
Studying Collagen with PyrATS: Pyrene-Appended Trimeric Systems
… of collagen can lead to disorders such as osteogenesis imperfecta, or "brittle bone disease." There is significant interest in understanding the factors that drive collagen folding and stability, but studying native collagens is difficult because they are hundreds of amino acids in length. …
-
Combinatorial Roles Of Skeletal Cell Yap And Taz In Bone Growth, Remodeling, And Repair
… evidence for each either promoting or inhibiting osteogenesis in vitro. Here, we used in vivo mouse models of combinatorial YAP/TAZ deletion from skeletal lineage cells to investigate their physiologic roles in bone growth, remodeling, and fracture repair. First, YAP and TAZ in Osterix-expressing …
-
Design, Structure and Applications of Collagen-Mimetic Peptides
… mimic of the type I collagen disease Osteogenesis Imperfecta is used to investigate single point glycine mutations in the B chain, the A chain or both chains. Unlike past reports, a combination of NMR analysis and molecular modelling is used to generate structures of the mutated …
-
Engineered Tracking and Delivery of Mesenchymal Stem Cells (MSCs)
… cancer or as a cell replacement therapy to treat osteogenesis imperfecta. However, the delivery of MSCs to a target organ, and the delivery of stem cells in general, remains a major challenge. This thesis investigates the hypothesis that when MSCs are efficiently delivered into the circulation, …
-
The role of type I collagen heterotrimers and homotrimers in mechanical strength and collagen cleavage
… mouse model of the genetic brittle bone disease, osteogenesis imperfecta, oim, is characterized by a replacement of the alpha-2 chain by an alpha-1 chain, resulting in a homotrimer collagen molecule. Experimental studies of oim mice tendon and bone have shown reduced mechanical strength compared …
-
Improving Collagen-Mimetic Fibrils to Study Fibrillogenesis and Effects of Disease-Causing Mutations on Fibrillogenesis
<p>Collagen, the most abundant protein in the human body, serves as the scaffold of connective tissue and has biomaterial applications to promote wound healing. The need to study collagen further stems from a disease perspective, as mutations in collagen lead to numerous connective tissue diseases. …
-
Whole exome sequencing to investigate genetic variants of non-syndromic hearing impairment in a population of African ancestry
… which is associated with hearing impairment in osteogenesis imperfecta. VTN was further shown as a hub protein of a protein subnetwork, along ATPB2. The presence of a second protein acting as a hub protein may account for why aberrations in VTN have not been associated with a disease; whereby …