{"doi":"10.3892/mmr.2017.6434","title":"A novel mutation (c.121-13T&gt;A) in the polypyrimidine tract of the splice acceptor site of intron 2 causes exon 3 skipping in mitochondrial acetoacetyl-CoA thiolase gene","abstract":null,"journal":"Molecular Medicine Reports","year":2017,"id":34034,"datarank":0.46330737084521434,"base_score":2.0794415416798357,"endowment":2.0794415416798357,"self_citation_contribution":0.31191623125197543,"citation_network_contribution":0.1513911395932389,"self_endowment_contribution":0.31191623125197543,"citer_contribution":0.1513911395932389,"corpus_percentile":null,"corpus_rank":null,"citation_count":7,"citer_count":5,"citers_with_citation_signal":5,"citers_with_endowment":5,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":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":171132,"name":"Hideo Sasai","orcid":null,"position":1,"is_corresponding":false},{"id":171135,"name":"Elsayed Abdelkreem","orcid":null,"position":2,"is_corresponding":false},{"id":171131,"name":"Hiroki Otsuka","orcid":null,"position":3,"is_corresponding":false},{"id":171133,"name":"Mina Nakama","orcid":null,"position":4,"is_corresponding":false},{"id":45533,"name":"Sandeep Kumar","orcid":"0000-0001-7181-232X","position":5,"is_corresponding":false},{"id":176938,"name":"Shrikiran Aroor","orcid":null,"position":6,"is_corresponding":false},{"id":176939,"name":"Anju Shukla","orcid":null,"position":7,"is_corresponding":false},{"id":171139,"name":"Toshiyuki Fukao","orcid":null,"position":8,"is_corresponding":false},{"id":171134,"name":"Yuka Aoyama","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"base_score":2.0794415416798357,"endowment":2.0794415416798357,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"28393214","pmcid":null,"openalex_id":"https://openalex.org/W2604474462","authors":[],"funders":[],"total_grants":0,"fwci":0.6737,"citation_percentile":0.68412754,"influential_citations":0,"citation_trend":[{"year":2018,"count":3},{"year":2019,"count":3},{"year":2023,"count":1}],"oa_status":"bronze","license":"cc-by-nc-nd","oa_locations":[{"url":"http://www.spandidos-publications.com/10.3892/mmr.2017.6434/download","host_type":"journal"},{"url":"https://www.spandidos-publications.com/10.3892/mmr.2017.6434/download","host_type":"BRONZE"},{"url":"http://www.spandidos-publications.com/10.3892/mmr.2017.6434/download","host_type":"publisher"},{"url":"https://spandidos-publications.com/10.3892/mmr.2017.6434/download","host_type":"publisher"},{"url":"https://doi.org/10.3892/mmr.2017.6434","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/28393214","host_type":"repository"},{"url":"http://hdl.handle.net/20.500.12099/82771","host_type":"repository"}],"fields_of_study":["RNA Research and Splicing","RNA modifications and cancer","RNA and protein synthesis mechanisms","Biology","Medicine","Acetyl-CoA C-Acetyltransferase","Alternative Splicing","DNA Mutational Analysis","Enzyme Activation","Exons","Female","Genes, Mitochondrial","Genetic Association Studies","Genetic Predisposition to Disease","Humans","Infant","Introns","Mutation","RNA Splice Sites"],"mesh_terms":["Acetyl-CoA C-Acetyltransferase","DNA Mutational Analysis","Enzyme Activation","Exons","Female","Humans","Infant","Introns","Mutation","Alternative Splicing","Genetic Predisposition to Disease","RNA Splice Sites","Genes, Mitochondrial","Genetic Association Studies"],"keywords":["Minigene","Polypyrimidine tract","Exon skipping","Exon","RNA splicing","Genetics","Biology","Intron","Exon trapping","Splice site mutation","Mutation","Gene","Molecular biology","Alternative splicing","RNA"],"sdg_mappings":[],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-06-09T17:29:40.789434Z","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":[]}