{"doi":"10.1126/scitranslmed.aaz4894","title":"Gene dosage manipulation alleviates manifestations of hereditary <i>PAX6</i> haploinsufficiency in mice","abstract":") with topical or systemic MEK inhibitor PD0325901 led to increased corneal PAX6 expression, improved corneal morphology, reduced corneal opacity, and enhanced ocular function. These results suggest that induction of the wild-type allele by drug repurposing is a potential therapeutic strategy for haploinsufficiencies, which is not limited to specific mutations.","journal":"Science Translational Medicine","year":2020,"id":100366,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":29,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9544,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":492675,"name":"Khandaker N. Anwar","orcid":"0000-0002-3846-8755","position":1,"is_corresponding":false},{"id":492676,"name":"Xiang Shen","orcid":"0000-0003-0702-6847","position":2,"is_corresponding":false},{"id":493311,"name":"Ilham Putra","orcid":null,"position":3,"is_corresponding":false},{"id":492677,"name":"Mingna Liu","orcid":"0000-0001-7060-0288","position":4,"is_corresponding":false},{"id":492678,"name":"Rebecca Jung","orcid":"0000-0002-6448-4484","position":5,"is_corresponding":false},{"id":492679,"name":"Neda Afsharkhamseh","orcid":"0000-0002-0270-930X","position":6,"is_corresponding":false},{"id":433608,"name":"Mark I. Rosenblatt","orcid":"0000-0001-8978-1955","position":7,"is_corresponding":false},{"id":493312,"name":"Gerald A. Fishman","orcid":null,"position":8,"is_corresponding":false},{"id":449686,"name":"Xiaorong Liu","orcid":"0000-0002-7655-6342","position":9,"is_corresponding":false},{"id":492680,"name":"Mahmood Ghassemi","orcid":"0000-0002-9275-3813","position":10,"is_corresponding":false},{"id":492681,"name":"Ali R. Djalilian","orcid":"0000-0002-1489-0724","position":11,"is_corresponding":false},{"id":492674,"name":"Behnam Rabiee","orcid":"0000-0003-4177-1226","position":0,"is_corresponding":true}],"reference_count":69,"raw_metadata":null,"created_at":"2026-07-18T22:38:35.493878Z","pmid":"33298563","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":[]}