{"doi":"10.1002/humu.21426","title":"Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene","abstract":null,"journal":"Human Mutation","year":2011,"id":648176,"datarank":5.126046829218455,"base_score":4.787491742782046,"endowment":4.787491742782046,"self_citation_contribution":0.7181237614173069,"citation_network_contribution":4.407923067801148,"self_endowment_contribution":0.7181237614173069,"citer_contribution":4.407923067801148,"corpus_percentile":null,"corpus_rank":null,"citation_count":119,"citer_count":98,"citers_with_citation_signal":89,"citers_with_endowment":89,"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":791510,"name":"Diane M. 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In a large survey, we identified 243 unique nonsense mutations in the DMD gene, and for 210 of these we could establish definitive phenotypes. We analyzed the reading frame predicted by exons flanking those in which nonsense mutations were found, and present evidence that nonsense mutations resulting in BMD likely do so by inducing exon skipping, confirming that exonic point mutations affecting exon definition have played a significant role in determining phenotype. We present a new model based on the combination of exon definition and intronic splicing regulatory elements for the selective association of BMD nonsense mutations with a subset of DMD exons prone to mutation-induced exon skipping.","is_dataset_classified":null,"base_score":4.787491742782046,"endowment":4.787491742782046,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"21972111","pmcid":"PMC3724403","openalex_id":"https://openalex.org/W2167075467","authors":[],"funders":[{"funder_name":"NCRR NIH HHS","grant_id":"M01-RR00064","title":null},{"funder_name":"NINDS NIH HHS","grant_id":"R01 NS043264","title":null},{"funder_name":"NCRR NIH HHS","grant_id":"UL1 RR025755","title":null},{"funder_name":"NCRR NIH HHS","grant_id":"M01 RR000064","title":null},{"funder_name":"National Institutes of Health","grant_id":"5R01NS043264-09","title":"Translational Research in the Dystrophinopathies"},{"funder_name":"National Institutes of Health","grant_id":"3M01RR000064-22S1","title":"GENERAL CLINICAL RESEARCH CENTER"}],"total_grants":6,"fwci":1.7428,"citation_percentile":0.84269586,"influential_citations":0,"citation_trend":[{"year":2012,"count":4},{"year":2013,"count":4},{"year":2014,"count":6},{"year":2015,"count":10},{"year":2016,"count":11},{"year":2017,"count":10},{"year":2018,"count":8},{"year":2019,"count":13},{"year":2020,"count":11},{"year":2021,"count":11},{"year":2022,"count":5},{"year":2023,"count":4},{"year":2024,"count":12},{"year":2025,"count":3},{"year":2026,"count":1}],"oa_status":"closed","license":"Wiley TDM","oa_locations":[{"url":"https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fhumu.21426","host_type":"publisher"},{"url":"http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21426/fullpdf","host_type":"publisher"},{"url":"https://doi.org/10.1002/humu.21426","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/21972111","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3724403","host_type":"repository"},{"url":"https://europepmc.org/articles/pmc3724403?pdf=render","host_type":""},{"url":"https://dx.doi.org/10.1002/humu.21426","host_type":""}],"fields_of_study":["Muscle Physiology and Disorders","RNA Research and Splicing","RNA and protein synthesis mechanisms","0301 basic medicine","0303 health sciences","03 medical and health sciences","Codon, Nonsense","Dystrophin","Exons","Female","Humans","Male","Muscular Dystrophy, Duchenne","Phenotype","RNA Splicing"],"mesh_terms":["Exons","Female","Humans","Male","Phenotype","RNA Splicing","Dystrophin","Codon, Nonsense","Muscular Dystrophy, Duchenne"],"keywords":["Nonsense mutation","Exon","Genetics","Exon skipping","Biology","Nonsense","Duchenne muscular dystrophy","Dystrophin","Muscular dystrophy","RNA splicing","Point mutation","Mutation","Gene","Phenotype","Alternative splicing","Missense mutation","RNA","Male","Muscular Dystrophy, Duchenne","Codon, Nonsense","Humans","Female","Exons"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Quality Education"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[{"name":"omim"},{"name":"refseq"}],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-10T02:19:20.299097Z","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":[]}