Browsing Genetics (Scholarly Publications) by Title
Now showing items 225-244 of 356
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Ohnologs are overrepresented in pathogenic copy number mutations.
(2014)A number of rare copy number variants (CNVs), including both deletions and duplications, have been associated with developmental disorders, including schizophrenia, autism, intellectual disability, and epilepsy. Pathogenicity ... -
Ohnologs in the human genome are dosage balanced and frequently associated with disease
(2010)About 30% of protein-coding genes in the human genome are related through two whole genome duplication (WGD) events. Although WGD is often credited with great evolutionary importance, the processes governing the retention ... -
On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic intervention
(Nature Publishing Group, 2002)Retinitis pigmentosa (RP), the group of hereditary conditions involving death of retinal photoreceptors, represents the most prevalent cause of visual handicap among working populations in developed countries. Here we ... -
Oncogene-induced autophagy and the Goldilocks principle
(2011)Although several oncogenes enhance autophagic flux, the molecular mechanism and consequences of onco - gene-induced autophagy remain to be clarified. We have recently shown that expression of oncogenic H-Ras V12 ... -
Oncogenic Ras-Induced Expression of Noxa and Beclin-1 Promotes Autophagic Cell Death and Limits Clonogenic Survival
(2011)Deregulated oncogenes such as MYC and RAS are typically insufficient to transform cells on their own due to the activation of pathways that restrain proliferation. Previous studies have shown that oncogenic H-Ras can induce ... -
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes
(2023)Purpose: Structural variants (SVs) play an important role in inherited retinal diseases (IRD). Although the identification of SVs significantly improved upon the availability of genome sequencing, it is expected that ... -
Optimisation of AAV-NDI1 Significantly Enhances Its Therapeutic Value for Correcting Retinal Mitochondrial Dysfunction
(2023)AAV gene therapy for ocular disease has become a reality with the market authorisation of LuxturnaTM for RPE65-linked inherited retinal degenerations and many AAV gene therapies currently undergoing phase III clinical ... -
Optimized OPA1 Isoforms 1 and 7 Provide Therapeutic Benefit in Models of Mitochondrial Dysfunction
(2020)Optic Atrophy 1 (OPA1) is a mitochondrially targeted GTPase that plays a pivotal role in mitochondrial health, with mutations causing severe mitochondrial dysfunction and typically associated with Dominant Optic Atrophy ... -
Origins and genetic legacies of the Caribbean Taino
(2018)Ancient DNA has revolutionized the field of archaeology, but in the Caribbean and other tropical regions of the world, the work has been hampered by poor DNA preservation. We present an ancient human genome from the Caribbean ... -
Oxidative stress and growth temperature in Bacillus subtilis.
(1987)Pretreatment of Bacillus subtilis with low concentrations of hydrogen peroxide protected the cells against the lethal effects of higher levels of oxidative stress. During the period of adaptation, eight proteins were ... -
Paging through history: Parchment as a reservoir of ancient DNA for next generation sequencing
(2015)Parchment represents an invaluable cultural reservoir. Retrieving an additional layer of information from these abundant, dated livestock-skins via the use of ancient DNA (aDNA) sequencing has been mooted by a number of ... -
Panel-Based population next-generation sequencing for inherited retinal degenerations
(2016)Inherited retinopathies affect approximately two and a half million people globally, yet the majority of affected patients lack clear genetic diagnoses given the diverse range of genes and mutations implicated in these ... -
Parallel evolution of the make?accumulate?consume strategy in Saccharomyces and Dekkera yeasts
(Nature, 2011)Saccharomyces yeasts degrade sugars to two-carbon components, in particular ethanol, even in the presence of excess oxygen. This characteristic is called the Crabtree effect and is the background for the 'make?accumulate?consume' ... -
The parallel lives of Joseph Allen Galbraith (1819-90) and Samuel Haughton (1821-97): religion, friendship, scholarship and politics in Victorian Ireland.
(Royal Irish Academy, 2012)Joseph Allen Galbraith and Samuel Haughton were both Junior Fellows at Trinity College Dublin, who in the 1840s became popular lecturers of mathematics-based subjects as well as successful textbook authors. In the 1880s ... -
Parkin Sensitizes toward Apoptosis Induced by Mitochondrial Depolarization through Promoting Degradation of Mcl-1
(2014)Mitochondrial depolarization promotes Parkin- and PTEN-induced kinase 1 (PINK1)-dependent polyubiquitination of multiple proteins on mitochondrial outer membranes, resulting in the removal of defective mitochondria via ... -
Patterns of gene expression during Arabidopsis flower development from the time of initiation to maturation
(2015)Background The formation of flowers is one of the main model systems to elucidate the molecular mechanisms that control developmental processes in plants. Although several studies have explored gene expression during ... -
pBaSysBioII: an integrative plasmid generating gfp transcriptional fusions for high-throughput analysis of gene expression in Bacillus subtilis.
(2010)Plasmid pBaSysBioII was constructed for high-throughput analysis of gene expression in Bacillus subtilis. It is an integrative plasmid with a ligation-independent cloning (LIC) site, allowing the generation of transcriptional ... -
A perspective on mammalian caspases as positive and negative regulators of inflammation.
(2012)Members of the caspase family of cysteine proteases coordinate the morphological and biochemical events that typify apoptosis. However, neutralization of caspase activity in mammals fails to block death in response to ... -
The phenotypic plasticity of duplicated genes in Saccharomyces cerevisiae and the origin of adaptations
(2017)Gene and genome duplication are the major sources of biological innovations in plants and animals. Functional and transcriptional divergence between the copies after gene duplication has been considered the main driver of ...