Browsing Genetics (Scholarly Publications) by Title
Now showing items 1-20 of 356
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AAV-Delivered Tulp1 Supplementation Therapy Targeting Photoreceptors Provides Minimal Benefit in Tulp1−/− Retinas
(2020)With marketing approval of the first ocular gene therapy, and other gene therapies in clinical trial, treatments for inherited retinal degenerations (IRDs) have become a reality. Biallelic mutations in the tubby like protein ... -
AAV-PHP.eB transduces both the inner and outer retina with high efficacy in mice
(2022)Recombinant adeno-associated virus (AAV) vectors are one of the main gene delivery vehicles used in retinal gene therapy ap proaches; however, there is a need to further improve the effi cacy, tropism, and safety of these ... -
Accurate Determination of Phenotypic Information from Historic Thoroughbred Horses by Single Base Extension
(PLoS, 2010)Historic DNA data have the potential to identify phenotypic information otherwise invisible in the historical, archaeological and palaeontological record. In order to determine whether a single nucleotide polymorphism ... -
Activation of the PhoPR-mediated response to phosphate limitation is regulated by wall teichoic acid metabolism in Bacillus subtilis
(2018)Phosphorous is essential for cell viability. To ensure an adequate supply under phosphate limiting conditions, bacteria induce a cohort of enzymes to scavenge for phosphate, and a high affinity transporter for its uptake ... -
The Adam family metalloprotease Kuzbanian regulates the cleavage of the roundabout receptor to control axon repulsion at the midline.
(2010)Slits and their Roundabout (Robo) receptors mediate repulsive axon guidance at the Drosophila ventral midline and in the vertebrate spinal cord. Slit is cleaved to produce fragments with distinct signaling properties. In ... -
Additions, losses, and rearrangements on the evolutionary route from a reconstructed ancestor to the modern Saccharomyces cerevisiae genome.
(PLoS, 2009)Comparative genomics can be used to infer the history of genomic rearrangements that occurred during the evolution of a species. We used the principle of parsimony, applied to aligned synteny blocks from 11 yeast species, ... -
Advanced late-onset retinitis pigmentosa with dominant-acting D477G RPE65 mutation is responsive to oral synthetic retinoid therapy
(2020)Objectives: No therapeutic interventions are currently available for autosomal dominant retinitis pigmentosa (adRP). An RPE65 Asp477Gly transition associates with late-onset adRP, reduced RPE65 enzymatic activity being one ... -
Altered retinal microRNA expression profile in a mouse model of retinitis pigmentosa.
(BioMed Central, 2007)Background The role played by microRNAs (miRs) as common regulators in physiologic processes such as development and various disease states was recently highlighted. Retinitis pigmentosa (RP) linked to RHO (which encodes ... -
Altered ribostasis: RNA-protein granules in degenerative disorders
(2013)The molecular processes that contribute to degenerative diseases are not well understood. Recent observations suggest that some degenerative diseases are promoted by the accumulation of nuclear or cytoplasmic RNA-protein ... -
Amino acid identity at one position within the alpha1 helix of both the histidine kinase and the response regulator of the WalRK and PhoPR two-component systems plays a crucial role in the specificity of phosphotransfer.
(2010)Two-component systems usually function as cognate pairs, thereby ensuring an appropriate response to the detected signal. The ability to exclusively phosphorylate a partner protein, often in the presence of many competing ... -
Analysis of gene evolution and metabolic pathways using the Candida Gene Order Browser.
(BioMed Central, 2010)Background: Candida species are the most common cause of opportunistic fungal infection worldwide. Recent sequencing efforts have provided a wealth of Candida genomic data. We have developed the Candida Gene Order Browser ... -
Ancient pigs reveal a near-complete genomic turnover following their introduction to Europe
(2019)Archaeological evidence indicates that pig domestication had begun by ∼10,500 y before the present (BP) in the Near East, and mitochondrial DNA (mtDNA) suggests that pigs arrived in Europe alongside farmers ∼8,500 y BP. A ... -
Angiogenin Levels and ANG Genotypes: Dysregulation in Amyotrophic Lateral Sclerosis
(2010)Objective: To determine whether 5 single nucleotide polymorphisms (SNPs) associate with ALS in 3 different populations. We also assessed the contribution of genotype to angiogenin levels in plasma and CSF. Methods: Allelic ... -
Apoptosis gene profiling reveals spatio-temporal regulated expression of the p53/Mdm2 pathway during lens development.
(2009)Evidence is emerging for apoptosis gene expression in the lens during development. Therefore, here we used a filter array to assess expression of 243 apoptosis-related genes in the developing postnatal mouse lens using ... -
Apoptosis-associated release of Smac/DIABLO from mitochondria requires active caspases and is blocked by Bcl-2
(2001)Smac/DIABLO is a mitochondrial protein that potentiates some forms of apoptosis, possibly by neutralizing one or more members of the IAP family of apoptosis inhibitory proteins. Smac has been shown to exit mitochondria and ... -
Autophagy in Multiple Myeloma: What Makes You Stronger Can Also Kill You.
(2013)Autophagy, a process for recycling cellular constituents, is normally associated with cell survival and is thought to be beneficial for tumor maintenance. However, in this issue of Cancer Cell, Lamy and colleagues report ... -
Autosis: A new addition to the cell death tower of babel
(2014)Autophagy is a cellular recycling and stress response that degrades organelles and long-lived proteins and serves to protect cells from the potential damage induced by dysfunc- tional organelles and protein aggregates. ...