{"doi":"10.3390/genes13030401","title":"Alternative Splicing and Isoforms: From Mechanisms to Diseases","abstract":"<jats:p>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 splicing factors. However, the changes and errors of splicing regulation caused by splicing factors are strongly related to many diseases, something which represents one of this study’s main interests. Further understanding of alternative splicing regulation mediated by cellular factors is also a prospective choice to develop specific drugs for targeting the dynamic RNA splicing process. In this review, we firstly concluded the basic principle of alternative splicing. Afterwards, we showed how splicing isoforms affect physiological activities through specific disease examples. Finally, the available treatment methods relative to adjusting splicing activities have been summarized.</jats:p>","journal":"Genes","year":2022,"id":30640,"datarank":2.5984662344257234,"base_score":4.997212273764115,"endowment":4.997212273764115,"self_citation_contribution":0.7495818410646173,"citation_network_contribution":1.848884393361106,"self_endowment_contribution":0.7495818410646173,"citer_contribution":1.848884393361106,"corpus_percentile":null,"corpus_rank":null,"citation_count":147,"citer_count":146,"citers_with_citation_signal":99,"citers_with_endowment":99,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":166036,"name":"Leiming Fang","orcid":null,"position":1,"is_corresponding":false},{"id":166037,"name":"Chengjun Wu","orcid":"0000-0001-9940-2605","position":2,"is_corresponding":false},{"id":28722,"name":"Qi Liu","orcid":"0000-0002-4053-4213","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"base_score":4.997212273764115,"endowment":4.997212273764115,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"35327956","pmcid":"PMC8951537","openalex_id":"https://openalex.org/W4213427798","authors":[],"funders":[{"funder_name":"National Natural Science Foundation of China","grant_id":"82072287","title":null}],"total_grants":1,"fwci":11.0877,"citation_percentile":0.99181946,"influential_citations":3,"citation_trend":[{"year":2022,"count":2},{"year":2023,"count":23},{"year":2024,"count":40},{"year":2025,"count":63},{"year":2026,"count":19}],"oa_status":"gold","license":"cc-by","oa_locations":[{"url":"https://www.mdpi.com/2073-4425/13/3/401/pdf?version=1645682231","host_type":"journal"},{"url":"https://www.mdpi.com/2073-4425/13/3/401/pdf?version=1645682231","host_type":"GOLD"},{"url":"https://www.mdpi.com/2073-4425/13/3/401/pdf?version=1645682231","host_type":"publisher"},{"url":"https://www.mdpi.com/2073-4425/13/3/401/pdf","host_type":"publisher"},{"url":"https://doi.org/10.3390/genes13030401","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/35327956","host_type":"repository"},{"url":"https://dx.doi.org/10.3390/genes13030401","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/8951537","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC8951537","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC8951537?pdf=render","host_type":"Europe_PMC"}],"fields_of_study":["RNA Research and Splicing","Neurogenetic and Muscular Disorders Research","RNA modifications and cancer","Medicine","Biology","Alternative Splicing","Humans","Prospective Studies","Protein Isoforms","RNA Precursors","RNA Splicing Factors"],"mesh_terms":["RNA Splicing Factors","Humans","Prospective Studies","RNA Precursors","Alternative Splicing","Protein Isoforms"],"keywords":["RNA splicing","Alternative splicing","Proteome","Biology","Computational biology","Splicing factor","Gene isoform","Minigene","Genetics","RNA","Gene","Drugs","Diseases","Splicing Factors"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-06-09T04:16:55.923297Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}