ReviewHuman genetics2014
Genomics of alternative splicing: evolution, development and pathophysiology.
Review in Human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
57 citing papers in PubMed, 91 citations in OpenAlex.
- The molecular mechanism underlying the differential subcellular distribution of dystrophin Dp71 isoforms.Cell & bioscience · 2026Article
- Review
- Regulation of Alternative Splicing by PARP1 in HTR-8/Svneo Cells: Implications for Placental Development and Spontaneous Abortion.Current medical science · 2024Article
- Full-Length Transcriptome Profile ofInternational journal of molecular sciences · 2024Article
- Transcriptome-Wide Association Studies (TWAS): Methodologies, Applications, and Challenges.Current protocols · 2024Article
- Exploring sex differences: insights into gene expression, neuroanatomy, neurochemistry, cognition, and pathology.Frontiers in neuroscience · 2024Review
- Mass Spectrometry-Based Proteomic Technology and Its Application to Study Skeletal Muscle Cell Biology.Cells · 2023Review
- NOVA1 prevents overactivation of the unfolded protein response and facilitates chromatin access during human white adipogenesis.Nucleic acids research · 2023Article
- HBV Enhances Sorafenib Resistance in Hepatocellular Carcinoma by Reducing Ferroptosis via SRSF2-Mediated Abnormal PCLAF Splicing.International journal of molecular sciences · 2023Article
- Bridging the splicing gap in human genetics with long-read RNA sequencing: finding the protein isoform drivers of disease.Human molecular genetics · 2022Review
- Poly(A) capture full length cDNA sequencing improves the accuracy and detection ability of transcript quantification and alternative splicing events.Scientific reports · 2022Article
- Identification of Alternative Splicing-Related Genes CYB561 and FOLH1 in the Tumor-Immune Microenvironment for Endometrial Cancer Based on TCGA Data Analysis.Frontiers in genetics · 2022Article
- The Role of Alternative Splicing Factors hnRNP G and Fox-2 in the Progression and Prognosis of Esophageal Cancer.Disease markers · 2022Article
- PIC-Me: paralogs and isoforms classifier based on machine-learning approaches.BMC bioinformatics · 2021Article
- Review
- Parallel and population-specific gene regulatory evolution in cold-adapted fly populations.Genetics · 2021Article
- Improved methods for RNAseq-based alternative splicing analysis.Scientific reports · 2021Article
- Genome-wide discovery of natural variation in pre-mRNA splicing and prioritising causal alternative splicing to salt stress response in rice.The New phytologist · 2021Article
- Overview of PAX gene family: analysis of human tissue-specific variant expression and involvement in human disease.Human genetics · 2021Review
- A two-step PCR assembly for construction of gene variants across large mutational distances.Biology methods & protocols · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alternative splicing is a major cellular mechanism in metazoans for generating proteomic diversity. A large proportion of protein-coding genes in multicellular organisms undergo alternative splicing, and in humans, it has been estimated that nearly 90 % of protein-coding genes-much larger than expected-are subject to alternative splicing. Genomic analyses of alternative splicing have illuminated its universal role in shaping the evolution of genomes, in the control of developmental processes, and in the dynamic regulation of the transcriptome to influence phenotype. Disruption of the splicing machinery has been found to drive pathophysiology, and indeed reprogramming of aberrant splicing can provide novel approaches to the development of molecular therapy. This review focuses on the recent progress in our understanding of alternative splicing brought about by the unprecedented explosive growth of genomic data and highlights the relevance of human splicing variation on disease and therapy.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.