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In-depth analysis of alternative splicing landscape in multiple myeloma and potential role of dysregulated splicing factors
Splicing changes are common in cancer and are associated with dysregulated splicing factors. Here, we analyzed RNA-seq data from 323 newly diagnosed...
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CD8+ T cell metabolic flexibility elicited by CD28-ARS2 axis-driven alternative splicing of PKM supports antitumor immunity
Metabolic flexibility has emerged as a critical determinant of CD8+ T-cell antitumor activity, yet the mechanisms driving the metabolic flexibility...
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CircPPAP2B controls metastasis of clear cell renal cell carcinoma via HNRNPC-dependent alternative splicing and targeting the miR-182-5p/CYP1B1 axis
BackgroundRenal cell carcinoma (RCC) is one of the most common malignant tumor worldwide. Metastasis is a leading case of cancer-related deaths of...
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RALY regulate the proliferation and expression of immune/inflammatory response genes via alternative splicing of FOS
RALY is a multifunctional RNA-binding protein involved in cancer metastasis, prognosis, and chemotherapy resistance in various cancers. However, the...
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Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy
Cardiomyopathy (CMP) is a heritable disorder. Over 50% of cases are gene-elusive on clinical gene panel testing. The contribution of variants in...
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Structure and Alternative Splicing of the Antisense FMR1 (ASFMR1) Gene
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by an expansion of 55–200 CGG repeats (premutation) in the...
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Clinically relevant immune subtypes based on alternative splicing landscape of immune-related genes for lung cancer advanced PPPM approach
BackgroundAlternative splicing (AS) occurs in the process of gene post-transcriptional process, which is very important for the correct synthesis...
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Heat increases full-length SMN splicing: promise for splice-augmenting therapies for SMA
Spinal muscular atrophy (SMA) is a debilitating neurodegenerative pediatric disease characterized by low levels of the survival motor protein (SMN)....
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Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene
Sequencing exomes/genomes have been successful for identifying recessive genes; however, discovery of dominant genes including deafness genes (DFNA)...
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Unraveling the Impact of Aberrant Splicing Machinery on Drug Resistance in Breast Cancer: Identifying Targets for Innovative Counteractive Strategies
The alternative splicing of pre-mRNA is an important process that increases the number of proteins a genome can code for and is important for nearly...
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Dynamic alternative DNA structures in biology and disease
Repetitive elements in the human genome, once considered ‘junk DNA’, are now known to adopt more than a dozen alternative (that is, non-B) DNA...
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A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome
Here we report an infant with clinical findings suggestive of Jervell and Lange-Nielsen syndrome (JLNS), including a prolonged QT interval (LQTS) and...
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APEX1 regulates alternative splicing of key tumorigenesis genes in non-small-cell lung cancer
BackgroundAberrant alternative splicing (AS) contributes to tumor progression. Previous studies have shown that apurinic-apyrimidinic endonuclease-1...
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CELF1 Selectively Regulates Alternative Splicing of DNA Repair Genes Associated With Cataract in Human Lens Cell Line
Cataract is a global eye disease caused by the opacification of lens, while its underlying molecular pathogenesis is not clear, making it difficult...
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Mu Opioids Induce Biased Signaling at the Full-Length Seven Transmembrane C-Terminal Splice Variants of the mu Opioid Receptor Gene, Oprm1
The biased signaling has been extensively studied in the original mu opioid receptor (MOR-1), particularly through G protein and β-arrestin2...
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Proteotranscriptomics of ocular adnexal B-cell lymphoma reveals an oncogenic role of alternative splicing and identifies a diagnostic marker
BackgroundOcular adnexal B-cell lymphoma (OABL) is a rare subtype of non-Hodgkin lymphoma. The molecular characteristics of OABL remain poorly...
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Long noncoding RNA MIR31HG and its splice variants regulate proliferation and migration: prognostic implications for muscle invasive bladder cancer
BackgroundGrowing evidence supports the pivotal role of long non-coding RNAs (lncRNAs) in the regulation of cancer development and progression. Their...
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Differential fates of introns in gene expression due to global alternative splicing
The discovery of introns over four decades ago revealed a new vision of genes and their interrupted arrangement. Throughout the years, it has...
