Related references
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Review
Genetics & Heredity
Bae-Hoon Kim et al.
Summary: Alternative splicing is a biological operation that allows a gene to encode multiple protein variants with different functions, contributing to the proteomic diversity of multicellular organisms. It plays a crucial role in generating protein-protein interactions along with post-translational modifications, but aberrant interactions caused by DNA mutations can lead to cancer or diseases. This review discusses how splicing variants can form neomorphic protein complexes and contribute to diseases such as Hutchinson-Gilford progeria syndrome (HGPS) and small cell lung cancer (SCLC), and proposes that the protein-protein interfaces from these variants may serve as potential therapeutic targets for treating HGPS and SCLC.
Article
Genetics & Heredity
Qi Liu et al.
Summary: Alternative splicing of pre-mRNA is a key mechanism for increasing protein complexity, leading to diversity of transcriptomes and proteomes in a tissue-specific manner. Changes and errors in splicing regulation caused by splicing factors are closely related to various diseases. Understanding cellular factors that mediate alternative splicing regulation is a potential avenue for developing specific drugs targeting the dynamic RNA splicing process.
Article
Genetics & Heredity
Maria Papatsirou et al.
Summary: This study identified nine novel circRNAs in breast cancer cell lines and predicted their potential involvement in tumor onset and progression based on their molecular properties.
Article
Genetics & Heredity
Chul-Hong Kim et al.
Summary: This study investigated the cellular cytotoxicity of BPA exposure on human retinoblastoma cells found that long-term low-dose exposure to BPA can significantly affect the gene expression related to post-transcriptional regulation and cell cycle regulation. Furthermore, alternative splicing events and altered gene/protein expression patterns were identified as critical phenomena affected by BPA exposure.
Article
Genetics & Heredity
Jianguo Feng et al.
Summary: The study reveals that the alternative splicing of Cyclin D1 is altered in cells under mechanical stress, with SRSF1 and BAF57/SMARCE1 potentially serving as critical regulators of this process.
Article
Genetics & Heredity
Ida Maria Westin et al.
Summary: FECD is associated with the CTG18.1 trinucleotide repeat expansion in the TCF4 gene, affecting expression of different TCF4 transcripts subtly. The fraction of transcripts spanning over CTG18.1 tract is lower in corneal endothelium compared to other tissues studied.
Article
Genetics & Heredity
Ji-Eun Jeong et al.
Summary: This study revealed distinct alternative splicing events in iMSCs compared to UCB-MSCs, with skipped exons being the predominant type of AS found in iMSCs. Differentially spliced genes were mainly enriched in functions associated with focal adhesion, extracellular exosomes, and other cellular processes. Identified splice isoforms of selected genes were further validated by RT-PCR analysis.
Article
Genetics & Heredity
Chen Chen et al.
Summary: This study identified chimeric RNAs in different non-neoplastic cell lines, investigated their expression and distribution patterns, and validated 17 chimeric RNAs across different classifications. The research also demonstrated the ubiquitous expression of these validated chimeric RNAs in both cancer and non-cancer cells, including blood samples from healthy donors.
Review
Genetics & Heredity
Zhongjing Su et al.
Summary: Alternative splicing plays a critical role in the regulation of immune cell development and immune activity, with aberrant splicing leading to abnormal immune responses. This review summarizes recent discoveries on immune-associated alternative splice variants, clinical disorders, and regulatory mechanisms.
Article
Genetics & Heredity
Junyu Yan et al.
Summary: This study revealed the expression and function of circHipk2 in skeletal myogenesis, showing that circHipk2 can inhibit ribosome translation, and is regulated by the transcription factor Sp1, playing an important role in ribosome biogenesis and muscle cell proliferation and differentiation.
Review
Genetics & Heredity
Elias Habib et al.
Summary: Autophagy is a crucial pathway for cellular homeostasis, with ESCRT proteins and alternative pre-mRNA splicing playing important roles in regulating this process. Dysfunction in these mechanisms can lead to impaired cellular stress response or trigger pathogenic reactions, ultimately contributing to human diseases.
Review
Genetics & Heredity
Maureen Neitz et al.
Summary: Light absorption by photopigment molecules in the photoreceptors is the first step in seeing. There are two types of photoreceptors in the human retina responsible for image formation: rods and cones. Cones play a critical role in high acuity and color vision, as well as in regulating the refractive development of the eye during childhood.
Article
Genetics & Heredity
Chiara Vancheri et al.
Summary: Primary prevention is crucial in managing coronary heart disease, and identifying reliable biomarkers can aid in risk assessment and predicting adverse events. Alternative splicing (AS) is an important yet less explored genetic factor in CAD, and the study highlights the potential role of AS, particularly in the RECK gene, in vascular inflammation and remodeling. The evaluation of Long and Short RECK expression levels may serve as a potential genomic biomarker to differentiate patients with acute myocardial infarction (AMI) from stable CAD patients.
Article
Genetics & Heredity
Michaela A. Boti et al.
Summary: Elf-3, a member of the ETS family, is crucial in epithelial cell differentiation, development, and cancer. This study identified 25 new ELF3 mRNA transcript variants and two novel exons, laying the foundation for further research on the biological function of these variants and protein isoforms.
Review
Genetics & Heredity
Victoria A. Cornelius et al.
Summary: Cardiovascular disease is the leading cause of death in diabetic individuals, with atherosclerosis being the main driver of diabetic vascular complications. Research has shown that diabetes can lead to endothelial dysfunction, but the underlying mechanism remains unclear. Alternative splicing plays a crucial role in vascular health, with mis-splicing having critical implications in disease development.
Article
Genetics & Heredity
Sofia Papanikolaou et al.
Summary: Alternative RNA splicing can lead to reduced mRNA translation or production of non-functional proteins, playing a vital role in gene regulation. In patients with Systemic Lupus Erythematosus, extensive changes in transcription dynamics were identified, predominantly involving intron retention events. Functional analysis of alternatively spliced genes revealed associations with metabolism and histone acetylation.
Review
Genetics & Heredity
Nikolay Mehterov et al.
Summary: Alternative RNA splicing is a crucial mechanism in gene regulation, with abnormal regulation playing a role in disease development. Targeting RNA splicing variants in tumor cells may offer new avenues for cancer treatment. Understanding splicing variants in cancer cells could provide insights for designing more effective therapeutic approaches.
Review
Genetics & Heredity
Ena Hasimbegovic et al.
Summary: Alternative splicing, a key driver of posttranscriptional variance, has gained increasing attention in recent years. Advances in deep sequencing methods and bioinformatic algorithms have shed light on the significance of alternative splicing in development and disease.
Article
Genetics & Heredity
Emel Rothzerg et al.
Summary: The study revealed 15 upregulated antisense lncRNAs in osteosarcoma patients, which could be potential biomarkers and therapeutic targets for the disease. Further analysis using real-time polymerase chain reaction validated the expressions in different osteosarcoma cell lines compared to normal human osteoblast cell line.
Review
Genetics & Heredity
Egle Jakubauskiene et al.
Summary: Alternative pre-mRNA splicing is essential for generating protein diversity and is implicated in the pathogenesis of neurological disorders. The splicing machinery also plays a role in cellular adaptation to different microenvironments, such as hypoxia. Understanding the alternative splicing of genes associated with Alzheimer's and Parkinson's diseases can provide insights into the development of these neurodegenerative conditions, including the influence of cellular hypoxic microenvironments.
Review
Genetics & Heredity
Jan Lejman et al.
Summary: Alternative splicing is a crucial mechanism that increases genetic diversity and can be a therapeutic target. Spinal Muscular Atrophy (SMA) is a neurodegenerative disease mainly caused by the homozygous deletion in the SMN1 gene, with 95% of cases attributed to this mutation.
Article
Genetics & Heredity
Changhee Ha et al.
Summary: The study investigated the sensitivity and specificity of SpliceAI in predicting splicing alterations in NF1 variants, showing that SpliceAI outperformed MaxEntScan and Splice Site Finder-like in predictive performance. This novel in silico splicing prediction algorithm may be helpful for clinical laboratories conducting DNA-based NF1 sequencing.
