Global ETD Search
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Showing 1 to 20 of 55 for “"Retinitis pigmentosa"”.
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Time Course of Disease Progression of PRPF31-Mediated Retinitis Pigmentosa
The general metadata -- e.g., title, author, abstract, subject headings, etc. -- is publicly available, but access to the submitted files is restricted to UT Southwestern campus access and/or authorized UT Southwestern users.
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Rod Photoreceptor Regeneration in a Zebrafish Model with Retinitis Pigmentosa
… inherited retinal degenerative disease known as Retinitis Pigmentosa. We utilize immunohistochemistry, single-cell RNA sequencing, several analysis tools, behavioral assays and oligonucleotides to characterize our zebrafish model and identify the transcription factors necessary for rod …
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Characterisation of Rhodopsin Retinitis Pigmentosa mutants located in Intradiscal Loop 1
Retinitis Pigmentosa (RP) is a genetic condition that results in blindness. There are several hundred RP mutations associated with rhodopsin, a photosensitive GPCR pigment found within rod cells of the retina. Previous studies have shown that many rhodopsin RP mutants fold incorrectly or affect …
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Quantified phenotype analysis in a cell model for Autosomal Dominant Retinitis Pigmentosa
… in a cellular model for autosomal dominant retinitis pigmentosa in stable HEK 293S cell lines and in GMK cells. Autosomal dominant retinitis pigmentosa is a genetic disorder which can lead to photoreceptor cell death and result in reduced vision and complete blindness. Endoplasmic Reticulum …
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Characterisation of Truncated Mutant Rhodopsin and its Involvement in the Pathogenesis of Retinitis Pigmentosa
Autosomal dominant retinitis pigmentosa (ADRP) is the most common genetic disorders which cause visual degradation, and blindness. 20-25% of cases are caused by mutations in the rhodopsin gene. The mutations located in the N-terminus of rhodopsin produce severely misfolded protein, which has been …
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Towards identifying the ADRP gene in a large South African family with retinitis pigmentosa
The present study was initiated with the aim of elucidating the molecular genetic basis of the RP phenotype segregating in a large SA family of British origin. The family is one of the largest pedigrees from which DNA is archived in the Department, and the pedigree structure and ADRP phenotype will …
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Systematic Methodology For The Identification of A Novel Autosomal Dominant Retinitis Pigmentosa Disease-Causing Gene
<p>Retinitis pigmentosa (RP) is an inherited retinal disease that leads to degeneration of the retina through loss of rod and cone photoreceptor cells and subsequent loss of vision. RP affects approximately 1.5 million people world-wide. Mutations causing autosomal dominant retinitis pigmentosa …
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Gene therapy provides long-term visual function in a pre-clinical model of retinitis pigmentosa
Retinitis pigmentosa (RP) is a photoreceptor neurodegenerative disease. Patients with RP present with the loss of their peripheral visual field, and the disease will progress until there is a full loss of vision. Approximately 36,000 cases of simplex and familial RP worldwide are caused by a …
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Functional analysis of A 5' untranslated variant in rhodopsin : implications for the retinitis pigmentosa phenotype
Retinitis Pigmentosa (RP) is a group of heterogeneous retinal degenerative diseases that predominantly affect rod photoreceptor cells. Symptoms include night blindness and gradual peripheral vision loss, which progresses to a complete loss of vision. Clinical, phenotypic and genetic heterogeneity …
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A molecular investigation of the novel gene underlying autosomal dominant retinitis pigmentosa in a South African family
… of severe visual handicap in the W estem world. Retinitis pigmentosa (RP) is a group of retinopathies in which a primary feature is a progressive loss of photoreceptor and retinal pigment epithelium function. Over the last decade, investigations into the patho-physiology of RP have identified …
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An investigation into the molecular mechanisms underlying retinitis pigmentosa 17 with the view to developing novel gene- based therapies
Retinitis pigmentosa (RP) is a highly heterogeneous form of inherited blindness that affects more than 1.3 million individuals worldwide. The RP17 form of the disease is caused by an arginine to tryptophan (R14W) mutation in the signal sequence of carbonic anhydrase IV (CAIV). In an effort to …
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Senses lost : the impossible dilemma of Usher Syndrome, and its possible solutions
… to the progressive loss of hearing and vision (retinitis pigmentosa). Increasingly, genetic testing, either through panels or whole exome sequencing, lets people know which of the twelve genes identified to date is responsible for the loss of their senses. Researchers are using these genetic …
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Identification of TbRP2-interacting proteins using proximity-dependent biotinylation (BioID)
… are associated with 10-15% of cases of X-linked retinitis pigmentosa; a devastating disease characterised by progressive degeneration of retinal photoreceptors. Although XRP2 was initially proposed to function as a GTPase-activating protein (GAP) for tubulin, evidence now suggests that it acts as …
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The Laurence-Moon-Biedl Syndrome
… (1), of the pentad of obesity, hypogenitalism, retinitis pigmentosa, mental retardation and polydactylism. It appears rather that this syndrome owes its distinction to the peculiar association of certain familially occurring defects in a variable number of body systems, most frequently the …
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Molecular Genetics of Usher Syndrome: Mutation Screening Studies and Discovery of the Usher Syndrome Type IIC Gene, the Very Large G-Protein Coupled Receptor (VLGR1).
… of progressive visual impairment diagnosed as retinitis pigmentosa (RP) combined with congenital sensorineural hearing loss and manifests as one of 3 recognized clinical subtypes. Usher I patients (USHI) are deaf with no vestibular responses. Usher II patients (USHII) have moderate to severe …
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Steroid induced neuroprotection of damaged photoreceptor cells
Retinitis Pigmentosa (RP) is the name given to a group of hereditary diseases causing progressive and degenerative blindness. RP affects over 1 in 4000 individuals, making it the most prevalent inherited retinal disease worldwide, yet currently there is no cure. In 2011, our group released a paper …
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Noninvasive optical inhibition with a red-shifted microbial rhodopsin
… strong light responses when used in retinas of retinitis pigmentosa model mice. Finally, I demonstrate that Jaws can mediate transcranial optical silencing of neurons deep in the brains of awake mice. The noninvasive optogenetic inhibition opened up by Jaws enables a variety of important …
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Controlled ablation of rod photoreceptors in transgenic Xenopus laevis
… and clinically relevant model of diseases like Retinitis pigmentosa, in which we will be able to probe in detail the mechanisms that govern cone cell dysfunction as a consequence of rod apoptosis. The unique ability of this species to recover from this insult will provide clues towards …
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