, 2014 The degradation of human ether-a-go-go-related gene (hERG, KCNH2) transcripts containing premature termination codon (PTC)mutations by nonsense-mediatedmRNA decay (NMD) is an importantmechanismof long QT syndrome type 2 (LQT2).
Gong, Qiuming +2 more
core +1 more source
Molecular Control of Fruit Ripening and Sensory Quality of Charentais Melon [PDF]
, 2007 Traditional Charentais melons have a typical climacteric behavior with ethylene playing a major role in the regulation of the ripening process.
El-Sharkawy, Islam +4 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To determine the concentration of glial fibrillary acidic protein (GFAP) in cerebrospinal fluid (CSF) and plasma in Alexander disease (AxD) and whether GFAP levels are predictive of disease phenotypes. Methods CSF and plasma were collected (longitudinally when available) from AxD participants and non‐AxD controls.
Amy T. Waldman +9 more
wiley +1 more source
Expression of the Thyroid Hormone Receptor Gene, erbAα, in B Lymphocytes: Alternative mRNA Processing is Independent of Differentiation but Correlates with Antisense RNA Levels [PDF]
, 1997 The erbAα gene encodes two α-thyroid hormone receptor isoforms, TRα1 and TRα2, which arise from alternatively processed mRNAs, erbAα1 (α1) and erb α2 (α2).
Hastings, Michelle Laura +4 more
core +1 more source
Silencing disease genes in the laboratory and the clinic
, 2011 Synthetic nucleic acids are commonly used laboratory tools for modulating gene expression and have the potential to be widely used in the clinic. Progress towards nucleic acid drugs, however, has been slow and many challenges remain to be overcome before
Corey, David R., Watts, Jonathan K.
core +1 more source
Repair of Aberrant Splicing in Growth Hormone Receptor by Antisense Oligonucleotides Targeting the Splice Sites of a Pseudoexon [PDF]
, 2010 Context: The GH receptor (GHR) pseudoexon 6 Psi defect is a frequent cause of GH insensitivity (GHI) resulting from a non-functioning GH receptor (GHR). It results in a broad range of phenotypes and may also be present in patients diagnosed as idiopathic
Clark, AJL +4 more
core +1 more source
Antisense Sense in Osteoclasts [PDF]
The American Journal of Pathology, 2016 This commentary highlights the article by Li et al that proposes regulating Wilm's tumor-1 antisense RNA to control pathological bone resorption.
openaire +3 more sources
Natural Antisense Transcripts: Molecular Mechanisms and Implications in Breast Cancers
International Journal of Molecular Sciences, 2018 Natural antisense transcripts are RNA sequences that can be transcribed from both DNA strands at the same locus but in the opposite direction from the gene transcript.
G. Latgé +4 more
semanticscholar +1 more source
Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler +20 more
wiley +1 more source
Effect of Non-Coding RNA on Post-Transcriptional Gene Silencing of Alzheimer Disease [PDF]
, 2010 A large amount of hidden biological information is contained in the human genome, which is not expressed or revealed in the form of proteins; the usual end product form of gene expression.
Arun Mohan +7 more
core +1 more source