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Pan-cancer pseudogene RNA analysis reveals a regulatory network promoting cancer cell proliferation
Pseudogenes have long been thought to be nonfunctional due to their lack of protein-coding ability, compared to protein-coding genes (PCG). Actually,...
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Misclassification of a frequent variant from PMS2CL pseudogene as a PMS2 loss of function variant in Brazilian patients
PMS2 , a Lynch Syndrome gene, presents challenges in genetic testing due to the existence of multiple pseudogenes. This study aims to describe a...
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Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape
Morquio B disease (MBD) is an ultra-rare lysosomal storage disease, which represents the relatively mild form of GLB1 -associated disorders. In this...
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Pseudogene Profiling for Cancer Subtype Classification
Although long thought of as “gene relics,” pseudogenes have recently gained research and medical interests because of their potential impacts on...
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Methods to Study Protein-Binding to Pseudogene Transcripts
One of the most commonly described biological feature of processed pseudogenes is the ability to influence the expression of their parental coding...
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Identification and validation of the high expression of pseudogene TCAM1P in cervical cancer via integrated bioinformatics analysis
BackgroundHPV as the main cause of cervical cancer has long been revealed, but the detailed mechanism has not yet been elucidated. The role of...
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Chromatin Regulation at Parental Gene Promoters by Pseudogene Sense lncRNAs
There is accumulating evidence that pseudogenes can produce functionally relevant lncRNAs in a tightly controlled manner. This class of transcripts...
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X-linked recessive ichthyosis in 8 Tunisian patients: awareness of misdiagnosis due to the technical trap of the STS pseudogene
IntroductionX-linked recessive ichthyosis (XLI) is a genodermatosis, caused by a deficiency of the steroid sulphatase enzyme encoded by the STS gene...
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Computational Methods for Pseudogene Annotation Based on Sequence Homology
The number of complete genome sequences explodes more and more with each passing year. Thus, methods for genome annotation need to be honed...
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Development and validation of a novel pseudogene pair-based prognostic signature for prediction of overall survival in patients with hepatocellular carcinoma
BackgroundThere is growing evidence that pseudogenes may serve as prognostic biomarkers in several cancers. The present study was designed to develop...
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Pseudogene-gene functional networks are prognostic of patient survival in breast cancer
BackgroundGiven the vast range of molecular mechanisms giving rise to breast cancer, it is unlikely universal cures exist. However, by providing a...
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Pseudogene HSPA7 is a poor prognostic biomarker in Kidney Renal Clear Cell Carcinoma (KIRC) and correlated with immune infiltrates
BackgroundPseudogenes played important roles in tumorigenesis, while there are nearly no reports about the expression and roles of HSPA7 in the...
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Comprehensive analysis of LDHAP5 pseudogene expression and potential pathogenesis in ovarian serous cystadenocarcinoma
BackgroundWe aimed to identify differentially expressed pseudogenes and explore their potential functions in four types of common gynecological...
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An efficient molecular genetic testing strategy for incontinentia pigmenti based on single-tube long fragment read sequencing
Incontinentia pigmenti (IP) is a rare X-linked dominant neuroectodermal dysplasia that primarily affects females. The only known causative gene is IKBKG...
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GENCODE Pseudogenes
Pseudogenes have long been considered nonfunctional elements. The influx of large-scale sequencing projects over the last decade have provided rich...
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Dealing with Pseudogenes in Molecular Diagnostics in the Next Generation Sequencing Era
Presence of pseudogenes is a dreadful issue in next generation sequencing (NGS), because their contamination can interfere with the detection of...
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Differential identification of Mannheimia haemolytica genotypes 1 and 2 using colorimetric loop-mediated isothermal amplification
ObjectiveMannheimia haemolytica is the primary bacterial pathogen associated with bovine respiratory disease complex (BRDC). While M. haemolytica ...
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Comprehensive behavioral analyses of mice with a glycine receptor alpha 4 deficiency
Glycine receptors (GlyRs) are ligand-gated chloride channels comprising alpha (α1–4) and β subunits. The GlyR subunits play major roles in the...
