{"doi":"10.1007/s12098-014-1379-6","title":"Genetic Analysis in Bartter Syndrome from India","abstract":null,"journal":"The Indian Journal of Pediatrics","year":2014,"id":619617,"datarank":0.20794415416798362,"base_score":1.3862943611198906,"endowment":1.3862943611198906,"self_citation_contribution":0.20794415416798362,"citation_network_contribution":0.0,"self_endowment_contribution":0.20794415416798362,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":3,"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":1599193,"name":"Bhaskar Saikia","orcid":null,"position":1,"is_corresponding":false},{"id":1599194,"name":"Rachna Sharma","orcid":null,"position":2,"is_corresponding":false},{"id":1599195,"name":"Kumar Ankur","orcid":null,"position":3,"is_corresponding":false},{"id":1599196,"name":"Praveen Khilnani","orcid":null,"position":4,"is_corresponding":false},{"id":1599197,"name":"Vinay Kumar Aggarwal","orcid":null,"position":5,"is_corresponding":false},{"id":1599198,"name":"Hae Cheong","orcid":null,"position":6,"is_corresponding":false},{"id":1213335,"name":"Pradeep Kumar Sharma","orcid":"0000-0001-7694-1534","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Genetic Analysis in Bartter Syndrome from India","abstract":"Bartter syndrome is a group of inherited, salt-losing tubulopathies presenting as hypokalemic metabolic alkalosis with normotensive hyperreninemia and hyperaldosteronism. Around 150 cases have been reported in literature till now. Mutations leading to salt losing tubulopathies are not routinely tested in Indian population. The authors have done the genetic analysis for the first time in the Bartter syndrome on two cases from India. First case was antenatal Bartter syndrome presenting with massive polyuria and hyperkalemia. Mutational analysis revealed compound heterozygous mutations in KCNJ1(ROMK) gene [p(Leu220Phe), p(Thr191Pro)]. Second case had a phenotypic presentation of classical Bartter syndrome however, genetic analysis revealed only heterozygous novel mutation in SLC12A gene p(Ala232Thr). Bartter syndrome is a clinical diagnosis and genetic analysis is recommended for prognostication and genetic counseling.","is_dataset_classified":null,"base_score":1.3862943611198906,"endowment":1.3862943611198906,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"24696311","pmcid":null,"openalex_id":"https://openalex.org/W2064489835","authors":[],"funders":[],"total_grants":0,"fwci":0.13,"citation_percentile":0.50975873,"influential_citations":0,"citation_trend":[{"year":2017,"count":1},{"year":2022,"count":1},{"year":2023,"count":1}],"oa_status":"closed","license":"http://www.springer.com/tdm","oa_locations":[{"url":"http://link.springer.com/content/pdf/10.1007/s12098-014-1379-6.pdf","host_type":"publisher"},{"url":"http://link.springer.com/article/10.1007/s12098-014-1379-6/fulltext.html","host_type":"publisher"},{"url":"http://link.springer.com/content/pdf/10.1007/s12098-014-1379-6","host_type":"publisher"},{"url":"https://doi.org/10.1007/s12098-014-1379-6","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/24696311","host_type":"repository"}],"fields_of_study":["Ion Transport and Channel Regulation","Renal function and acid-base balance","Electrolyte and hormonal disorders","Bartter Syndrome","Genetic Testing","Humans","India","Infant","Infant, Newborn","Male"],"mesh_terms":["Bartter Syndrome","Genetic Testing","Humans","India","Infant","Infant, Newborn","Male"],"keywords":["Bartter syndrome","Medicine","Hyperaldosteronism","Metabolic alkalosis","Gitelman syndrome","Genetic analysis","Polyuria","Bartter's syndrome","Pediatrics","Internal medicine","Endocrinology","Genetics","Hypokalemia","Gene","Aldosterone","Diabetes mellitus","Biology"],"sdg_mappings":[],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-03T07:45:08.110028Z","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":[]}