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Alu Mobile Elements: From Junk DNA to Genomic Gems
Published 2012-01-01“…Indeed, Alu RNAs have been shown to control mRNA processing at several levels, to have complex regulatory functions such as transcriptional repression and modulating alternative splicing and to cause a host of human genetic diseases. …”
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42
Alternative RNA Splicing in Cardiac Diseases
Published 2025-01-01“…Alternative splicing (AS), a critical process for gene expression regulation, allows a single precursor RNA to produce multiple transcript variants. …”
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43
Discovery of paradoxical genes: reevaluating the prognostic impact of overexpressed genes in cancer
Published 2025-01-01“…Mechanisms like upstream open reading frames and alternative splicing contribute to these inconsistencies. …”
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44
Understanding HLA-DQ in renal transplantation: a mini-review
Published 2025-02-01“…Expression levels, influenced by tissue specificity and inflammatory stimuli, and alternative splicing of HLA-DQ transcripts add additional layers of variability. …”
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45
VEGF Spliced Variants: Possible Role of Anti-Angiogenesis Therapy
Published 2012-01-01“…VEGF pre-mRNA undergoes alternative splicing generating pro-angiogenic isoforms. …”
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46
Mining the Virgin Land of Neurotoxicology: A Novel Paradigm of Neurotoxic Peptides Action on Glycosylated Voltage-Gated Sodium Channels
Published 2012-01-01“…Even though the structure-function studies were the most pursued spots, the posttranslation modification processes, such as glycosylation, phosphorylation, and alternative splicing associating with channel functions captured less eyesights. …”
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47
The Role of Insulin Receptor Isoforms in Diabetes and Its Metabolic and Vascular Complications
Published 2017-01-01“…The insulin receptor (IR) presents by alternative splicing two isoforms: IRA and IRB. The differential physiological and pathological role of both isoforms is not completely known, and it is determinant the different binding affinity for insulin-like growth factor. …”
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48
Knockout of <i>dhx38</i> Causes Inner Ear Developmental Defects in Zebrafish
Published 2024-12-01“…<b>Background</b>: Alternative splicing is essential for the physiological and pathological development of the inner ear. …”
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49
Delineating Molecular Mechanisms of Squamous Tissue Homeostasis and Neoplasia: Focus on p63
Published 2013-01-01“…The p53/p63/p73 family is expressed as multiple protein isoforms due to a combination of alternative promoter usage and C-terminal alternative splicing. These isoforms can mimic or interfere with one another, and their balance ultimately determines biological outcome in a context-dependent manner. …”
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50
Mitochondrial genome of Cordyceps blackwelliae: organization, transcription, and evolutionary insights into Cordyceps
Published 2023-07-01“…There was clear evidence for polycistronic transcription and alternative splicing of mitochondrial genes. Comparison among mitogenomes of five different Cordyceps species (i.e., C. blackwelliae, C. chanhua, C. militaris, C. pruinosa, and C. tenuipes) revealed a high synteny, with mitogenome size expansion correlating with intron insertions. …”
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51
Mutations in human prion-like domains: pathogenic but not always amyloidogenic
Published 2024-12-01“…Heterogeneous nuclear ribonucleoproteins (hnRNPs) are multifunctional proteins with integral roles in RNA metabolism and the regulation of alternative splicing. These proteins typically contain prion-like domains of low complexity (PrLDs or LCDs) that govern their assembly into either functional or pathological amyloid fibrils. …”
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52
Insights Into Genetic Variations of the OCT1 Gene in Metformin Poor Responders Among Bangladeshi Type 2 Diabetic Patients
Published 2025-01-01“…Some of these mutations also cause alternative splicing, as per the HSF tool. In addition, alteration of interatomic bonding in the OCT1 protein due to two high-risk mutations (c.181C>T and c.1022C>T) was found from web-based analysis. …”
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53
Transcriptional Activity of PGC-1α and NT-PGC-1α Is Differentially Regulated by Twist-1 in Brown Fat Metabolism
Published 2012-01-01“…PGC-1α consists of 797 amino acids, whereas alternative splicing of the PGC-1α gene produces a shorter protein called NT-PGC-1α (aa 1–270). …”
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54
Targeting the CLK2/SRSF9 splicing axis in prostate cancer leads to decreased ARV7 expression
Published 2025-02-01“…Thus, targeting aberrant alternative splicing at the 3′UTR of ARV7 by disturbing the CLK2/SRSF9 axis might be a valuable therapeutic approach in late stage, ARSI‐resistant PC.…”
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55
The functional insight into the genetics of cardiovascular disease: results from the post-GWAS study
Published 2022-03-01“…Together, the findings provide further insight into the biological basis of CVDs and highlight the importance of the precise regulation of splicing and alternative splicing.…”
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56
Splicing accuracy varies across human introns, tissues, age and disease
Published 2025-01-01“…Abstract Alternative splicing impacts most multi-exonic human genes. …”
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57
Deciphering the regulatory programs of RNA binding proteins in rheumatoid arthritis through single-cell transcriptome analysis
Published 2025-01-01“…Additionally, bulk RNA-seq data were collected and RBP-alternative splicing event (ASE) co-expression analyses were performed to reveal the potential regulatory role of RA-related RBPs on ASEs. …”
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Clinical relevance and druggability of sole reciprocal kinase fusions: A large‐scale study
Published 2024-09-01“…Abstract Background Building on our prior work that RNA alternative splicing modulates the druggability of kinase fusions, this study probes the clinical significance of sole reciprocal fusions. …”
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Ethnicity-specific distribution of <em>TRPM8</em> gene variants in Eurasian populations: signs of selection
Published 2020-05-01“…Sequence analysis demonstrates that they are transcribed from major H1 variant of the TRPM8 gene but contain different translation start codons, which are generated by alternative splicing from pro-mRNA.…”
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A gene expression atlas of Nicotiana tabacum across various tissues at transcript resolution
Published 2025-02-01“…Alternative splicing (AS) expands the transcriptome diversity by selectively splicing exons and introns from pre-mRNAs to generate different protein isoforms. …”
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