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4,118 Results Found

  • Review
  • Open Access
28 Citations
8,782 Views
20 Pages

16 April 2021

RNA splicing is a critical step in the maturation of precursor mRNA (pre-mRNA) by removing introns and exons. The combination of inclusion and exclusion of introns and exons in pre-mRNA can generate vast diversity in mature mRNA from a limited number...

  • Data Descriptor
  • Open Access
26 Citations
7,733 Views
12 Pages

Multiple Image Splicing Dataset (MISD): A Dataset for Multiple Splicing

  • Kalyani Dhananjay Kadam,
  • Swati Ahirrao and
  • Ketan Kotecha

28 September 2021

Image forgery has grown in popularity due to easy access to abundant image editing software. These forged images are so devious that it is impossible to predict with the naked eye. Such images are used to spread misleading information in society with...

  • Article
  • Open Access
28 Citations
11,274 Views
15 Pages

Deep Splicing Code: Classifying Alternative Splicing Events Using Deep Learning

  • Zakaria Louadi,
  • Mhaned Oubounyt,
  • Hilal Tayara and
  • Kil To Chong

1 August 2019

Alternative splicing (AS) is the process of combining different parts of the pre-mRNA to produce diverse transcripts and eventually different protein products from a single gene. In computational biology field, researchers try to understand AS behavi...

  • Review
  • Open Access
20 Citations
6,531 Views
15 Pages

Targeting Splicing in Prostate Cancer

  • Effrosyni Antonopoulou and
  • Michael Ladomery

Over 95% of human genes are alternatively spliced, expressing splice isoforms that often exhibit antagonistic functions. We describe genes whose alternative splicing has been linked to prostate cancer; namely VEGFA, KLF6, BCL2L2, ERG, and AR. We disc...

  • Review
  • Open Access
6 Citations
4,939 Views
15 Pages

Pre-mRNA splicing is an essential process for gene expression in higher eukaryotes, which requires a high order of accuracy. Mutations in splicing factors or regulatory elements in pre-mRNAs often result in many human diseases. Myelodysplastic syndro...

  • Review
  • Open Access
25 Citations
9,710 Views
25 Pages

21 February 2023

Pre-mRNA splicing is a process used by eukaryotic cells to generate messenger RNAs that can be translated into proteins. During splicing, the non-coding regions of the RNAs (introns) are removed from pre-mRNAs and the coding regions (exons) are joine...

  • Feature Paper
  • Article
  • Open Access
1 Citations
3,998 Views
18 Pages

Pairwise Engineering of Tandemly Aligned Self-Splicing Group I Introns for Analysis and Control of Their Alternative Splicing

  • Tomoki Ueda,
  • Kei-ichiro Nishimura,
  • Yuka Nishiyama,
  • Yuto Tominaga,
  • Katsushi Miyazaki,
  • Hiroyuki Furuta,
  • Shigeyoshi Matsumura and
  • Yoshiya Ikawa

6 April 2023

Alternative splicing is an important mechanism in the process of eukaryotic nuclear mRNA precursors producing multiple protein products from a single gene. Although group I self-splicing introns usually perform regular splicing, limited examples of a...

  • Article
  • Open Access
31 Citations
7,317 Views
11 Pages

25 August 2021

Neurofibromatosis type 1, characterized by neurofibromas and café-au-lait macules, is one of the most common genetic disorders caused by pathogenic NF1 variants. Because of the high proportion of splicing mutations in NF1, identifying variants that a...

  • Review
  • Open Access
31 Citations
10,142 Views
20 Pages

Alternative mRNA Splicing in the Pathogenesis of Obesity

  • Chi-Ming Wong,
  • Lu Xu and
  • Mabel Yin-Chun Yau

23 February 2018

Alternative mRNA splicing is an important mechanism in expansion of proteome diversity by production of multiple protein isoforms. However, emerging evidence indicates that only a limited number of annotated protein isoforms by alternative splicing a...

  • Review
  • Open Access
115 Citations
18,470 Views
43 Pages

The RNA Splicing Response to DNA Damage

  • Lulzim Shkreta and
  • Benoit Chabot

29 October 2015

The number of factors known to participate in the DNA damage response (DDR) has expanded considerably in recent years to include splicing and alternative splicing factors. While the binding of splicing proteins and ribonucleoprotein complexes to nasc...

  • Article
  • Open Access
16 Citations
3,427 Views
14 Pages

Genome-Wide Analysis of Prognostic Alternative Splicing Signature and Splicing Factors in Lung Adenocarcinoma

  • Ya-Sian Chang,
  • Siang-Jyun Tu,
  • Hui-Shan Chiang,
  • Ju-Chen Yen,
  • Ya-Ting Lee,
  • Hsin-Yuan Fang and
  • Jan-Gowth Chang

31 October 2020

Analysis of The Cancer Genome Atlas data revealed that alternative splicing (AS) events could serve as prognostic biomarkers in various cancer types. This study examined lung adenocarcinoma (LUAD) tissues for AS and assessed AS events as potential in...

  • Review
  • Open Access
140 Citations
13,847 Views
24 Pages

20 November 2018

More than 95% of the 20,000 to 25,000 transcribed human genes undergo alternative RNA splicing, which increases the diversity of the proteome. Isoforms derived from the same gene can have distinct and, in some cases, opposing functions. Accumulating...

  • Review
  • Open Access
111 Citations
26,660 Views
11 Pages

24 February 2022

Alternative splicing of pre-mRNA is a key mechanism for increasing the complexity of proteins in humans, causing a diversity of expression of transcriptomes and proteomes in a tissue-specific manner. Alternative splicing is regulated by a variety of...

  • Review
  • Open Access
9 Citations
6,485 Views
15 Pages

13 January 2023

Advancements in genomics, bioinformatics, and genome editing have uncovered new dimensions in gene regulation. Post-transcriptional modifications by the alternative splicing of mRNA transcripts are critical regulatory mechanisms of mammalian gene exp...

  • Review
  • Open Access
98 Citations
15,859 Views
27 Pages

Alternative Splicing in Angiogenesis

  • Elizabeth Bowler and
  • Sebastian Oltean

Alternative splicing of pre-mRNA allows the generation of multiple splice isoforms from a given gene, which can have distinct functions. In fact, splice isoforms can have opposing functions and there are many instances whereby a splice isoform acts a...

  • Article
  • Open Access
30 Citations
5,124 Views
17 Pages

The Rice Serine/Arginine Splicing Factor RS33 Regulates Pre-mRNA Splicing during Abiotic Stress Responses

  • Haroon Butt,
  • Jeremie Bazin,
  • Kasavajhala V. S. K. Prasad,
  • Nourelislam Awad,
  • Martin Crespi,
  • Anireddy S. N. Reddy and
  • Magdy M. Mahfouz

30 May 2022

Abiotic stresses profoundly affect plant growth and development and limit crop productivity. Pre-mRNA splicing is a major form of gene regulation that helps plants cope with various stresses. Serine/arginine (SR)-rich splicing factors play a key role...

  • Review
  • Open Access
2 Citations
4,686 Views
28 Pages

Get Spliced: Uniting Alternative Splicing and Arthritis

  • Maurice J. H. van Haaren,
  • Levina Bertina Steller,
  • Sebastiaan J. Vastert,
  • Jorg J. A. Calis and
  • Jorg van Loosdregt

Immune responses demand the rapid and precise regulation of gene protein expression. Splicing is a crucial step in this process; ~95% of protein-coding gene transcripts are spliced during mRNA maturation. Alternative splicing allows for distinct func...

  • Review
  • Open Access
16 Citations
9,340 Views
21 Pages

Therapeutic Targeting of RNA Splicing in Cancer

  • Elizabeth A. Bonner and
  • Stanley C. Lee

29 June 2023

RNA splicing is a key regulatory step in the proper control of gene expression. It is a highly dynamic process orchestrated by the spliceosome, a macro-molecular machinery that consists of protein and RNA components. The dysregulation of RNA splicing...

  • Article
  • Open Access
12 Citations
4,238 Views
18 Pages

Splicing Enhancers at Intron–Exon Borders Participate in Acceptor Splice Sites Recognition

  • Tatiana Kováčová,
  • Přemysl Souček,
  • Pavla Hujová,
  • Tomáš Freiberger and
  • Lucie Grodecká

8 September 2020

Acceptor splice site recognition (3′ splice site: 3′ss) is a fundamental step in precursor messenger RNA (pre-mRNA) splicing. Generally, the U2 small nuclear ribonucleoprotein (snRNP) auxiliary factor (U2AF) heterodimer recognizes the 3&p...

  • Review
  • Open Access
3,294 Views
14 Pages

9 October 2023

Plants, as sessile organisms, show a high degree of plasticity in their growth and development and have various strategies to cope with these alterations under continuously changing environments and unfavorable stress conditions. In particular, the f...

  • Article
  • Open Access
476 Views
19 Pages

1 December 2025

Soil salinity severely threatens soybean productivity worldwide. While transcriptional responses to salt stress are well-documented, the role of post-transcriptional regulation, particularly alternative splicing (AS), remains underexplored. This stud...

  • Review
  • Open Access
16 Citations
6,009 Views
21 Pages

19 September 2021

Introns span only a quarter of the human genome, yet they host around 60% of all known microRNAs. Emerging evidence indicates the adaptive advantage of microRNAs residing within introns is attributed to their complex co-regulation with transcription...

  • Communication
  • Open Access
10 Citations
4,127 Views
10 Pages

Using TSG101 pre-mRNA, we previously discovered cancer-specific re-splicing of mature mRNA that generates aberrant transcripts/proteins. The fact that mRNA is aberrantly re-spliced in various cancer cells implies there must be an important mechanism...

  • Article
  • Open Access
1 Citations
1,091 Views
19 Pages

Unraveling the Functional Impact of Splicing Variants in Inherited Hearing Disorders Through Minigene Splicing Assays

  • Lara Emily Rosso,
  • Giulia Pianigiani,
  • Anna Morgan,
  • Elisa Rubinato,
  • Elisa Paccagnella,
  • Stefania Lenarduzzi,
  • Anita Wischmeijer,
  • Beatrice Spedicati and
  • Giorgia Girotto

11 September 2025

Background/Objectives: Hereditary hearing loss (HHL) is a genetically heterogeneous condition, involving more than 150 genes in non-syndromic cases and associated with over 400 distinct disorders in syndromic forms. Although whole-exome sequencing (W...

  • Article
  • Open Access
25 Citations
8,208 Views
25 Pages

15 August 2019

Mounting evidence points to a role of the circadian clock in the temporal regulation of post-transcriptional processes in mammals, including alternative splicing (AS). In this study, we carried out a computational analysis of circadian and ultradian...

  • Review
  • Open Access
8 Citations
5,006 Views
11 Pages

Alternative Splicing in Myeloid Malignancies

  • Carmelo Gurnari,
  • Simona Pagliuca and
  • Valeria Visconte

Alternative RNA splicing (AS) is an essential physiologic function that diversifies the human proteome. AS also has a crucial role during cellular development. In fact, perturbations in RNA-splicing have been implicated in the development of several...

  • Review
  • Open Access
10 Citations
4,218 Views
16 Pages

Alternative splicing (AS) is a tightly regulated mechanism that generates the complex human proteome from a small number of genes. Cis-regulatory RNA motifs in exons and introns control AS, recruiting positive and negative trans-acting splicing regul...

  • Article
  • Open Access
1 Citations
564 Views
14 Pages

9 January 2026

Background: Alternative pre-mRNA splicing is a combinatorial process involving serine/arginine-rich (SR) and heterogeneous nuclear ribonucleoprotein (hnRNP) splicing factors. These proteins can silence or enhance splicing based on their expression le...

  • Review
  • Open Access
11 Citations
6,429 Views
25 Pages

12 December 2023

Alternative splicing changes are closely linked to aging, though it remains unclear if they are drivers or effects. As organisms age, splicing patterns change, varying gene isoform levels and functions. These changes may contribute to aging alteratio...

  • Review
  • Open Access
2 Citations
4,217 Views
18 Pages

15 January 2025

Alternative splicing plays a fundamental role in gene expression and protein complexity. Aberrant splicing impairs cell homeostasis and is closely associated with aging and cellular senescence. Significant changes to alternative splicing, including d...

  • Feature Paper
  • Article
  • Open Access
8 Citations
4,161 Views
22 Pages

20 October 2021

Splicing defects caused by mutations in the consensus sequences at the borders of introns and exons are common in human diseases. Such defects frequently result in a complete loss of function of the protein in question. Therapy approaches based on an...

  • Review
  • Open Access
22 Citations
8,334 Views
21 Pages

14 September 2015

Alternative splicing was found to be a common phenomenon after the advent of whole transcriptome analyses or next generation sequencing. Over 90% of human genes were demonstrated to undergo at least one alternative splicing event. Alternative splicin...

  • Article
  • Open Access
812 Views
15 Pages

RNA-seq Splicing Profile of the CDH1 Gene and Its Impact on the Clinical Pathogenicity Classification of CDH1 Variants: A Description of Alternative and Pathogenic Splicing Patterns

  • Molka Sebai,
  • Roseline Tang,
  • Yahia Adnani,
  • Alice Fievet,
  • Odile Cabaret,
  • Marie-Aude Robert de Rancher,
  • Nathalie Auger,
  • Yasmina Elaribi,
  • Houweyda Jilani and
  • Etienne Rouleau
  • + 3 authors

14 October 2025

Background/Objectives: CDH1 gene is widely studied, as pathogenic variants are involved in diffuse gastric cancers and lobular breast cancers. CDH1 genotype contributes to the management of clinical practice recommendations for cancer prevention...

  • Review
  • Open Access
15 Citations
9,153 Views
32 Pages

Non-Canonical Splicing and Its Implications in Brain Physiology and Cancer

  • Consuelo Pitolli,
  • Alberto Marini,
  • Claudio Sette and
  • Vittoria Pagliarini

The advance of experimental and computational techniques has allowed us to highlight the existence of numerous different mechanisms of RNA maturation, which have been so far unknown. Besides canonical splicing, consisting of the removal of introns fr...

  • Article
  • Open Access
9 Citations
3,924 Views
17 Pages

The Splicing of the Mitochondrial Calcium Uniporter Genuine Activator MICU1 Is Driven by RBFOX2 Splicing Factor during Myogenic Differentiation

  • Denis Vecellio Reane,
  • Cristina Cerqua,
  • Sabrina Sacconi,
  • Leonardo Salviati,
  • Eva Trevisson and
  • Anna Raffaello

24 February 2022

Alternative splicing, the process by which exons within a pre-mRNA transcript are differentially joined or skipped, is crucial in skeletal muscle since it is required both during myogenesis and in post-natal life to reprogram the transcripts of contr...

  • Article
  • Open Access
21 Citations
6,401 Views
17 Pages

Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes

  • Alejandro Moles-Fernández,
  • Joanna Domènech-Vivó,
  • Anna Tenés,
  • Judith Balmaña,
  • Orland Diez and
  • Sara Gutiérrez-Enríquez

3 July 2021

The contribution of deep intronic splice-altering variants to hereditary breast and ovarian cancer (HBOC) is unknown. Current computational in silico tools to predict spliceogenic variants leading to pseudoexons have limited efficiency. We assessed t...

  • Review
  • Open Access
72 Citations
16,271 Views
24 Pages

24 July 2015

Alternative pre-messenger RNA splicing in higher plants emerges as an important layer of regulation upon exposure to exogenous and endogenous cues. Accordingly, mutants defective in RNA-binding proteins predicted to function in the splicing process s...

  • Review
  • Open Access
3 Citations
3,061 Views
23 Pages

Immunomodulatory Gene-Splicing Dysregulation in Tumorigenesis: Unmasking the Complexity

  • Lorraine Tshegofatso Maebele,
  • Thanyani Victor Mulaudzi,
  • Madhavan Yasasve,
  • Zodwa Dlamini and
  • Botle Precious Damane

10 August 2023

Cancer is a global health concern with rising incidence, morbidity, and mortality. The interaction between the tumor and immune cells within the tumor microenvironment is facilitated by signaling pathways driven by immunomodulatory proteins. Alternat...

  • Article
  • Open Access
6 Citations
2,436 Views
16 Pages

Alternative Splicing under Cold Stress in Paper Mulberry

  • Zhipeng Yu,
  • Xia Huang,
  • Shuhan Wen,
  • Haijuan Cao,
  • Nan Wang,
  • Shihua Shen and
  • Mingquan Ding

23 November 2023

The paper mulberry is a commonly found tree species with a long history of cultivation. It also serves as a crucial case study for understanding how woody plants adapt to low temperatures. Under cold treatment, we observed a substantial number of alt...

  • Article
  • Open Access
2,081 Views
14 Pages

Comparative Analysis of Splicing Alterations in Three Muscular Dystrophies

  • Vanessa Todorow,
  • Stefan Hintze,
  • Benedikt Schoser and
  • Peter Meinke

Background/Objectives: Missplicing caused by toxic DMPK-mRNA is described as a hallmark of myotonic dystrophy type 1 (DM1). Yet, there is an expressional misregulation of additional splicing factors described in DM1, and missplicing has been observed...

  • Review
  • Open Access
41 Citations
10,843 Views
24 Pages

Alternative Splicing: Expanding the Landscape of Cancer Biomarkers and Therapeutics

  • Cláudia Bessa,
  • Paulo Matos,
  • Peter Jordan and
  • Vânia Gonçalves

27 November 2020

Alternative splicing (AS) is a critical post-transcriptional regulatory mechanism used by more than 95% of transcribed human genes and responsible for structural transcript variation and proteome diversity. In the past decade, genome-wide transcripto...

  • Review
  • Open Access
27 Citations
8,004 Views
28 Pages

The Alter Retina: Alternative Splicing of Retinal Genes in Health and Disease

  • Izarbe Aísa-Marín,
  • Rocío García-Arroyo,
  • Serena Mirra and
  • Gemma Marfany

12 February 2021

Alternative splicing of mRNA is an essential mechanism to regulate and increase the diversity of the transcriptome and proteome. Alternative splicing frequently occurs in a tissue- or time-specific manner, contributing to differential gene expression...

  • Review
  • Open Access
94 Citations
9,055 Views
28 Pages

Alternative Splicing as a Target for Cancer Treatment

  • Nancy Martinez-Montiel,
  • Nora Hilda Rosas-Murrieta,
  • Maricruz Anaya Ruiz,
  • Eduardo Monjaraz-Guzman and
  • Rebeca Martinez-Contreras

11 February 2018

Alternative splicing is a key mechanism determinant for gene expression in metazoan. During alternative splicing, non-coding sequences are removed to generate different mature messenger RNAs due to a combination of sequence elements and cellular fact...

  • Review
  • Open Access
6 Citations
5,841 Views
20 Pages

18 November 2021

Pre-mRNA splicing is a major process in the regulated expression of genes in eukaryotes, and alternative splicing is used to generate different proteins from the same coding gene. Splicing is a catalytic process that removes introns and ligates exons...

  • Article
  • Open Access
17 Citations
4,145 Views
11 Pages

21 February 2021

Background: Cyclin D1 regulates cyclin-dependent protein kinase activity of the cell cycle, and cyclin D1 alternative splicing generates a cyclin D1b isoform, acting as a mediator of aberrant cellular proliferation. As alternative splicing processes...

  • Article
  • Open Access
2,509 Views
21 Pages

Simulations between Three Types of Networks of Splicing Processors

  • José Ramón Sánchez Couso,
  • José Angel Sanchez Martín,
  • Victor Mitrana and
  • Mihaela Păun

28 June 2021

Networks of splicing processors (NSP for short) embody a subcategory among the new computational models inspired by natural phenomena with theoretical potential to handle unsolvable problems efficiently. Current literature considers three variants in...

  • Review
  • Open Access
44 Citations
16,937 Views
17 Pages

Targeting Splicing in the Treatment of Human Disease

  • Marc Suñé-Pou,
  • Silvia Prieto-Sánchez,
  • Sofía Boyero-Corral,
  • Cristina Moreno-Castro,
  • Younes El Yousfi,
  • Josep Mª Suñé-Negre,
  • Cristina Hernández-Munain and
  • Carlos Suñé

24 February 2017

The tightly regulated process of precursor messenger RNA (pre-mRNA) alternative splicing (AS) is a key mechanism in the regulation of gene expression. Defects in this regulatory process affect cellular functions and are the cause of many human diseas...

  • Review
  • Open Access
1 Citations
2,643 Views
16 Pages

Alternative Splicing: A Potential Therapeutic Target in Hematological Malignancies

  • Gazmend Temaj,
  • Silvia Chichiarelli,
  • Sarmistha Saha,
  • Pelin Telkoparan-Akillilar,
  • Nexhibe Nuhii,
  • Rifat Hadziselimovic and
  • Luciano Saso

29 October 2024

Leukemia represents the most prevalent malignancy in children, constituting 30% of childhood cancer cases, with acute lymphoblastic leukemia (ALL) being particularly heterogeneous. This paper explores the role of alternative splicing in leukemia, hig...

  • Review
  • Open Access
20 Citations
8,963 Views
19 Pages

Alcoholism and Alternative Splicing of Candidate Genes

  • Toshikazu Sasabe and
  • Shoichi Ishiura

Gene expression studies have shown that expression patterns of several genes have changed during the development of alcoholism. Gene expression is regulated not only at the level of transcription but also through alternative splicing of pre-mRNA. In...

  • Review
  • Open Access
29 Citations
15,983 Views
27 Pages

RNA-Targeting Splicing Modifiers: Drug Development and Screening Assays

  • Zhichao Tang,
  • Junxing Zhao,
  • Zach J. Pearson,
  • Zarko V. Boskovic and
  • Jingxin Wang

14 April 2021

RNA splicing is an essential step in producing mature messenger RNA (mRNA) and other RNA species. Harnessing RNA splicing modifiers as a new pharmacological modality is promising for the treatment of diseases caused by aberrant splicing. This drug mo...

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