{"doi":"10.1371/journal.pone.0143939","title":"Alagille Syndrome Mimicking Biliary Atresia in Early Infancy","abstract":null,"journal":"PLOS ONE","year":2015,"id":619061,"datarank":0.5289540786924243,"base_score":3.5263605246161616,"endowment":3.5263605246161616,"self_citation_contribution":0.5289540786924243,"citation_network_contribution":0.0,"self_endowment_contribution":0.5289540786924243,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":33,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"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":1597416,"name":"Milan Jirsa","orcid":null,"position":1,"is_corresponding":false},{"id":1597419,"name":"Radan Keil","orcid":null,"position":2,"is_corresponding":false},{"id":1597422,"name":"Michal Rygl","orcid":null,"position":3,"is_corresponding":false},{"id":1597426,"name":"Jiri Šnajdauf","orcid":null,"position":4,"is_corresponding":false},{"id":993977,"name":"Radana Kotalová","orcid":null,"position":5,"is_corresponding":false},{"id":1597414,"name":"Tomáš Dědič","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Alagille Syndrome Mimicking Biliary Atresia in Early Infancy","abstract":"Alagille syndrome may mimic biliary atresia in early infancy. Since mutations in JAG1 typical for Alagille syndrome type 1 have also been found in biliary atresia, we aimed to identify JAG1 mutations in newborns with proven biliary atresia (n = 72). Five biliary atresia patients with cholestasis, one additional characteristic feature of Alagille syndrome and ambiguous liver histology were single heterozygotes for nonsense or frameshift mutations in JAG1. No mutations were found in the remaining 67 patients. All \"biliary atresia\" carriers of JAG1 null mutations developed typical Alagille syndrome at the age of three years. Our data do not support association of biliary atresia with JAG1 mutations, at least in Czech patients. Rapid testing for JAG1 mutations could prevent misdiagnosis of Alagille syndrome in early infancy and improve their outcome.","is_dataset_classified":null,"base_score":3.5263605246161616,"endowment":3.5263605246161616,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"26618708","pmcid":"PMC4664419","openalex_id":"https://openalex.org/W2182846209","authors":[],"funders":[],"total_grants":0,"fwci":2.328,"citation_percentile":0.88167361,"influential_citations":0,"citation_trend":[{"year":2016,"count":1},{"year":2017,"count":2},{"year":2018,"count":5},{"year":2019,"count":4},{"year":2020,"count":3},{"year":2021,"count":5},{"year":2022,"count":1},{"year":2023,"count":4},{"year":2024,"count":4},{"year":2025,"count":1},{"year":2026,"count":3}],"oa_status":"gold","license":"cc-by","oa_locations":[{"url":"https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0143939&type=printable","host_type":"journal"},{"url":"https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0143939&type=printable","host_type":"publisher"},{"url":"http://dx.plos.org/10.1371/journal.pone.0143939","host_type":"publisher"},{"url":"https://doi.org/10.1371/journal.pone.0143939","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/26618708","host_type":"repository"},{"url":"https://doaj.org/article/c426639526b743188602edf51c23a68c","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4664419","host_type":"repository"},{"url":"https://figshare.com/articles/dataset/_Alagille_Syndrome_Mimicking_Biliary_Atresia_in_Early_Infancy_/1614651","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC4664419","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC4664419?pdf=render","host_type":"Europe_PMC"}],"fields_of_study":["Pediatric Hepatobiliary Diseases and Treatments","Gallbladder and Bile Duct Disorders","Congenital Anomalies and Fetal Surgery","Alagille Syndrome","Biliary Atresia","Calcium-Binding Proteins","Codon, Nonsense","Czech Republic","Diagnosis, Differential","Female","Frameshift Mutation","Humans","Infant, Newborn","Intercellular Signaling Peptides and Proteins","Jagged-1 Protein","Male","Membrane Proteins","Mutation","Serrate-Jagged Proteins"],"mesh_terms":["Serrate-Jagged Proteins","Jagged-1 Protein","Biliary Atresia","Calcium-Binding Proteins","Diagnosis, Differential","Female","Humans","Infant, Newborn","Male","Membrane Proteins","Mutation","Frameshift Mutation","Alagille Syndrome","Czech Republic","Codon, Nonsense","Intercellular Signaling Peptides and Proteins"],"keywords":["Alagille syndrome","JAG1","Biliary atresia","Atresia","Frameshift mutation","Neonatal cholestasis","Cholestasis","Medicine","Gastroenterology","CHARGE syndrome","Internal medicine","Mutation","Biology","Liver transplantation","Genetics","Notch signaling pathway"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[{"name":"gen"},{"name":"refsnp"},{"name":"omim"},{"name":"refseq"}],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-03T05:54:39.766568Z","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":[]}