{"id":"https://openalex.org/W4409423325","doi":"https://doi.org/10.1186/s12931-025-03214-9","title":"The prevalence of pathogenic variants in the BMPR2 gene in patients with the idiopathic pulmonary arterial hypertension in the Russian population: sequencing data and meta-analysis","display_name":"The prevalence of pathogenic variants in the BMPR2 gene in patients with the idiopathic pulmonary arterial hypertension in the Russian population: sequencing data and meta-analysis","publication_year":2025,"publication_date":"2025-04-14","ids":{"openalex":"https://openalex.org/W4409423325","doi":"https://doi.org/10.1186/s12931-025-03214-9","pmid":"https://pubmed.ncbi.nlm.nih.gov/40229839","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/11998140"},"language":"en","primary_location":{"id":"doi:10.1186/s12931-025-03214-9","doi":"https://doi.org/10.1186/s12931-025-03214-9","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12931-025-03214-9","pdf_url":"https://respiratory-research.biomedcentral.com/counter/pdf/10.1186/s12931-025-03214-9","source":{"id":"https://openalex.org/S186153782","display_name":"Respiratory Research","issn_l":"1465-9921","issn":["1465-9921","1465-993X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-2","ki-jl-2","medline","norway-2","oarl","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Respiratory Research","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://respiratory-research.biomedcentral.com/counter/pdf/10.1186/s12931-025-03214-9","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5115074044","display_name":"Galina Okhrimenko","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I118501908","display_name":"National Research University Higher School of Economics","ror":"https://ror.org/055f7t516","country_code":"RU","type":"education","lineage":["https://openalex.org/I118501908"]},{"id":"https://openalex.org/I19880235","display_name":"Lomonosov Moscow State University","ror":"https://ror.org/010pmpe69","country_code":"RU","type":"education","lineage":["https://openalex.org/I19880235"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Galina Okhrimenko","raw_affiliation_strings":["Bioinformatics Lab, Institute of Artificial Intelligence and Digital Sciences, HSE University, Moscow, Russia","Faculty of Physics, Lomonosov Moscow State University, Moscow, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Bioinformatics Lab, Institute of Artificial Intelligence and Digital Sciences, HSE University, Moscow, Russia","institution_ids":["https://openalex.org/I118501908"]},{"raw_affiliation_string":"Faculty of Physics, Lomonosov Moscow State University, Moscow, Russia","institution_ids":["https://openalex.org/I19880235"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081666656","display_name":"Irina Borovikova","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I19880235","display_name":"Lomonosov Moscow State University","ror":"https://ror.org/010pmpe69","country_code":"RU","type":"education","lineage":["https://openalex.org/I19880235"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Irina Borovikova","raw_affiliation_strings":["Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Moscow, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Moscow, Russia","institution_ids":["https://openalex.org/I19880235"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062133559","display_name":"Elena N. Dankovtseva","orcid":"https://orcid.org/0000-0002-0831-1490","observed_orcids":["https://orcid.org/0000-0002-0831-1490"]},"institutions":[{"id":"https://openalex.org/I4210087882","display_name":"Moscow City Hospital No 29","ror":"https://ror.org/004kfs587","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I4210087882"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Elena Dankovtseva","raw_affiliation_strings":["City Clinical Hospital Nu 29 By N.E. Bauman, Moscow, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"City Clinical Hospital Nu 29 By N.E. Bauman, Moscow, Russia","institution_ids":["https://openalex.org/I4210087882"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065249550","display_name":"Vladimir Zamyatin","orcid":"https://orcid.org/0000-0002-1414-9231","observed_orcids":["https://orcid.org/0000-0002-1414-9231"]},"institutions":[{"id":"https://openalex.org/I118501908","display_name":"National Research University Higher School of Economics","ror":"https://ror.org/055f7t516","country_code":"RU","type":"education","lineage":["https://openalex.org/I118501908"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Vladimir Zamyatin","raw_affiliation_strings":["Bioinformatics Lab, Institute of Artificial Intelligence and Digital Sciences, HSE University, Moscow, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Bioinformatics Lab, Institute of Artificial Intelligence and Digital Sciences, HSE University, Moscow, Russia","institution_ids":["https://openalex.org/I118501908"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Dmitry Nikulin","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I17877952","display_name":"Sechenov University","ror":"https://ror.org/02yqqv993","country_code":"RU","type":"education","lineage":["https://openalex.org/I17877952"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Dmitry Nikulin","raw_affiliation_strings":["I.M. Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"I.M. Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia","institution_ids":["https://openalex.org/I17877952"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079461797","display_name":"Ekaterina Zobova","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210087882","display_name":"Moscow City Hospital No 29","ror":"https://ror.org/004kfs587","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I4210087882"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Ekaterina Zobova","raw_affiliation_strings":["City Clinical Hospital Nu 29 By N.E. Bauman, Moscow, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"City Clinical Hospital Nu 29 By N.E. Bauman, Moscow, Russia","institution_ids":["https://openalex.org/I4210087882"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5115074045","display_name":"A. V. Lyzhenkova","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210087882","display_name":"Moscow City Hospital No 29","ror":"https://ror.org/004kfs587","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I4210087882"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Anna Lyzhenkova","raw_affiliation_strings":["City Clinical Hospital Nu 29 By N.E. Bauman, Moscow, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"City Clinical Hospital Nu 29 By N.E. Bauman, Moscow, Russia","institution_ids":["https://openalex.org/I4210087882"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075960236","display_name":"Anna Danilova","orcid":"https://orcid.org/0000-0001-7750-8118","observed_orcids":["https://orcid.org/0000-0001-7750-8118"]},"institutions":[{"id":"https://openalex.org/I4210087882","display_name":"Moscow City Hospital No 29","ror":"https://ror.org/004kfs587","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I4210087882"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Anna Danilova","raw_affiliation_strings":["City Clinical Hospital Nu 29 By N.E. Bauman, Moscow, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"City Clinical Hospital Nu 29 By N.E. Bauman, Moscow, Russia","institution_ids":["https://openalex.org/I4210087882"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Natalia Osipova","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210087882","display_name":"Moscow City Hospital No 29","ror":"https://ror.org/004kfs587","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I4210087882"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Natalia Osipova","raw_affiliation_strings":["City Clinical Hospital Nu 29 By N.E. Bauman, Moscow, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"City Clinical Hospital Nu 29 By N.E. Bauman, Moscow, Russia","institution_ids":["https://openalex.org/I4210087882"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057922213","display_name":"Larisa O. Minushkina","orcid":"https://orcid.org/0000-0002-4203-3586","observed_orcids":["https://orcid.org/0000-0002-4203-3586"]},"institutions":[{"id":"https://openalex.org/I4210087882","display_name":"Moscow City Hospital No 29","ror":"https://ror.org/004kfs587","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I4210087882"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Larisa Minushkina","raw_affiliation_strings":["City Clinical Hospital Nu 29 By N.E. Bauman, Moscow, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"City Clinical Hospital Nu 29 By N.E. Bauman, Moscow, Russia","institution_ids":["https://openalex.org/I4210087882"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091860770","display_name":"Dmitry A. Zateyshchikov","orcid":"https://orcid.org/0000-0001-7065-2045","observed_orcids":["https://orcid.org/0000-0001-7065-2045"]},"institutions":[{"id":"https://openalex.org/I4210087882","display_name":"Moscow City Hospital No 29","ror":"https://ror.org/004kfs587","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I4210087882"]}],"countries":["RU"],"is_corresponding":true,"raw_author_name":"Dmitry Zateyshchikov","raw_affiliation_strings":["City Clinical Hospital Nu 29 By N.E. Bauman, Moscow, Russia. dz@bk.ru"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"City Clinical Hospital Nu 29 By N.E. Bauman, Moscow, Russia. dz@bk.ru","institution_ids":["https://openalex.org/I4210087882"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5038622198","display_name":"Maria S. Poptsova","orcid":"https://orcid.org/0000-0002-7198-8234","observed_orcids":["https://orcid.org/0000-0002-7198-8234"]},"institutions":[{"id":"https://openalex.org/I118501908","display_name":"National Research University Higher School of Economics","ror":"https://ror.org/055f7t516","country_code":"RU","type":"education","lineage":["https://openalex.org/I118501908"]}],"countries":["RU"],"is_corresponding":true,"raw_author_name":"Maria Poptsova","raw_affiliation_strings":["Bioinformatics Lab, Institute of Artificial Intelligence and Digital Sciences, HSE University, Moscow, Russia. mpoptsova@hse.ru"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Bioinformatics Lab, Institute of Artificial Intelligence and Digital Sciences, HSE University, Moscow, Russia. mpoptsova@hse.ru","institution_ids":["https://openalex.org/I118501908"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5038622198","https://openalex.org/A5091860770"],"corresponding_institution_ids":["https://openalex.org/I118501908","https://openalex.org/I4210087882"],"apc_list":{"value":3490,"currency":"USD","value_usd":3490},"apc_paid":{"value":3490,"currency":"USD","value_usd":3490},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.10121665,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"26","issue":"1","first_page":"146","last_page":"146"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10728","display_name":"Pulmonary Hypertension Research and Treatments","score":0.9907000064849854,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10728","display_name":"Pulmonary Hypertension Research and Treatments","score":0.9907000064849854,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0027000000700354576,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12199","display_name":"Vascular Anomalies and Treatments","score":0.0017000000225380063,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/idiopathic-pulmonary-arterial-hypertension","display_name":"idiopathic pulmonary arterial hypertension","score":0.9990000128746033},{"id":"https://openalex.org/keywords/bmpr2","display_name":"BMPR2","score":0.8330000042915344},{"id":"https://openalex.org/keywords/pathogenic-variants","display_name":"pathogenic variants","score":0.9660000205039978},{"id":"https://openalex.org/keywords/variant-prevalence","display_name":"variant prevalence","score":0.6909999847412109},{"id":"https://openalex.org/keywords/russian-population","display_name":"Russian population","score":0.8220000267028809},{"id":"https://openalex.org/keywords/genetic-testing","display_name":"genetic testing","score":0.6930000185966492},{"id":"https://openalex.org/keywords/acmg-criteria","display_name":"ACMG criteria","score":0.9660000205039978},{"id":"https://openalex.org/keywords/tbx4","display_name":"TBX4","score":0.7570000290870667},{"id":"https://openalex.org/keywords/atp13a3","display_name":"ATP13A3","score":0.9990000128746033},{"id":"https://openalex.org/keywords/aquaporin-1","display_name":"aquaporin-1","score":0.996999979019165},{"id":"https://openalex.org/keywords/novel-variants","display_name":"novel variants","score":0.5590000152587891},{"id":"https://openalex.org/keywords/genetic-heterogeneity","display_name":"genetic heterogeneity","score":0.5460000038146973},{"id":"https://openalex.org/keywords/whole-genome-sequencing","display_name":"whole genome sequencing","score":0.6480000019073486},{"id":"https://openalex.org/keywords/structural-variants","display_name":"structural variants","score":0.4350000023841858},{"id":"https://openalex.org/keywords/variants-of-uncertain-significance","display_name":"variants of uncertain significance","score":0.574999988079071},{"id":"https://openalex.org/keywords/unclassified-variants","display_name":"unclassified variants","score":0.48399999737739563}],"concepts":[{"id":"https://openalex.org/C73834784","wikidata":"https://www.wikidata.org/wiki/Q17849752","display_name":"BMPR2","level":4,"score":0.8920263648033142},{"id":"https://openalex.org/C95190672","wikidata":"https://www.wikidata.org/wiki/Q815382","display_name":"Meta-analysis","level":2,"score":0.5465991497039795},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5391095280647278},{"id":"https://openalex.org/C2780930700","wikidata":"https://www.wikidata.org/wiki/Q1128595","display_name":"Pulmonary hypertension","level":2,"score":0.5328512787818909},{"id":"https://openalex.org/C175554068","wikidata":"https://www.wikidata.org/wiki/Q14914463","display_name":"ACVRL1","level":5,"score":0.4872128367424011},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.48391205072402954},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.48014160990715027},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.46862274408340454},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.40476199984550476},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.34555891156196594},{"id":"https://openalex.org/C164705383","wikidata":"https://www.wikidata.org/wiki/Q10379","display_name":"Cardiology","level":1,"score":0.3397147059440613},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.33733975887298584},{"id":"https://openalex.org/C6061869","wikidata":"https://www.wikidata.org/wiki/Q18250377","display_name":"Endoglin","level":4,"score":0.0},{"id":"https://openalex.org/C10205521","wikidata":"https://www.wikidata.org/wiki/Q4035578","display_name":"CD34","level":3,"score":0.0},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0},{"id":"https://openalex.org/C31507581","wikidata":"https://www.wikidata.org/wiki/Q425383","display_name":"Bone morphogenetic protein","level":3,"score":0.0},{"id":"https://openalex.org/C28328180","wikidata":"https://www.wikidata.org/wiki/Q48196","display_name":"Stem cell","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D012426","descriptor_name":"Russia","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015331","descriptor_name":"Cohort Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015995","descriptor_name":"Prevalence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D052006","descriptor_name":"Bone Morphogenetic Protein Receptors, Type II","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D065627","descriptor_name":"Familial Primary Pulmonary Hypertension","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D065627","descriptor_name":"Familial Primary Pulmonary Hypertension","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D065627","descriptor_name":"Familial Primary Pulmonary Hypertension","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true}],"locations_count":6,"locations":[{"id":"doi:10.1186/s12931-025-03214-9","doi":"https://doi.org/10.1186/s12931-025-03214-9","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12931-025-03214-9","pdf_url":"https://respiratory-research.biomedcentral.com/counter/pdf/10.1186/s12931-025-03214-9","source":{"id":"https://openalex.org/S186153782","display_name":"Respiratory Research","issn_l":"1465-9921","issn":["1465-9921","1465-993X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-2","ki-jl-2","medline","norway-2","oarl","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Respiratory Research","raw_type":"journal-article"},{"id":"doi:10.21203/rs.3.rs-5387832/v1","doi":"https://doi.org/10.21203/rs.3.rs-5387832/v1","is_oa":true,"landing_page_url":"https://doi.org/10.21203/rs.3.rs-5387832/v1","pdf_url":"https://www.researchsquare.com/article/rs-5387832/latest.pdf","source":{"id":"https://openalex.org/S4306525896","display_name":"Research Square","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Research Square","raw_type":"posted-content"},{"id":"pmh:oai:europepmc.org:10809855","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11998140","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11998140/pdf/12931_2025_Article_3214.pdf","source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:11998140","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11998140","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Respir Res","raw_type":"Text"},{"id":"pmid:40229839","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/40229839","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Respiratory research","raw_type":"Journal Article"},{"id":"pmh:oai:doaj.org/article:fdadd4aa77a14510b395d348497784ce","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/fdadd4aa77a14510b395d348497784ce","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Respiratory Research, Vol 26, Iss 1, Pp 1-14 (2025)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1186/s12931-025-03214-9","doi":"https://doi.org/10.1186/s12931-025-03214-9","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12931-025-03214-9","pdf_url":"https://respiratory-research.biomedcentral.com/counter/pdf/10.1186/s12931-025-03214-9","source":{"id":"https://openalex.org/S186153782","display_name":"Respiratory Research","issn_l":"1465-9921","issn":["1465-9921","1465-993X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-2","ki-jl-2","medline","norway-2","oarl","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Respiratory Research","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":1.0}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320324261","display_name":"National Research University Higher School of Economics","ror":"https://ror.org/055f7t516"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4409423325.pdf","grobid_xml":"https://content.openalex.org/works/W4409423325.grobid-xml"},"referenced_works_count":59,"referenced_works":["https://openalex.org/W1824255095","https://openalex.org/W1976182236","https://openalex.org/W2010595044","https://openalex.org/W2044956310","https://openalex.org/W2051978340","https://openalex.org/W2069829011","https://openalex.org/W2103441770","https://openalex.org/W2131271579","https://openalex.org/W2136245768","https://openalex.org/W2154866190","https://openalex.org/W2193602001","https://openalex.org/W2253353716","https://openalex.org/W2298641558","https://openalex.org/W2341397738","https://openalex.org/W2417483443","https://openalex.org/W2498222446","https://openalex.org/W2501535959","https://openalex.org/W2509617492","https://openalex.org/W2519039755","https://openalex.org/W2546846019","https://openalex.org/W2553247132","https://openalex.org/W2580887223","https://openalex.org/W2760858575","https://openalex.org/W2805051728","https://openalex.org/W2806379483","https://openalex.org/W2889664156","https://openalex.org/W2905799800","https://openalex.org/W2906336810","https://openalex.org/W2951101345","https://openalex.org/W2989484068","https://openalex.org/W2997199169","https://openalex.org/W3015289091","https://openalex.org/W3032660643","https://openalex.org/W3080264145","https://openalex.org/W3088580292","https://openalex.org/W3092868771","https://openalex.org/W3114876108","https://openalex.org/W3127588932","https://openalex.org/W3151104752","https://openalex.org/W3174757688","https://openalex.org/W3203581175","https://openalex.org/W3206212741","https://openalex.org/W4220661428","https://openalex.org/W4221036091","https://openalex.org/W4282932760","https://openalex.org/W4283277280","https://openalex.org/W4293217384","https://openalex.org/W4307381112","https://openalex.org/W4309925685","https://openalex.org/W4323043735","https://openalex.org/W4376640802","https://openalex.org/W4383215735","https://openalex.org/W4388115249","https://openalex.org/W4388910458","https://openalex.org/W4390571581","https://openalex.org/W4392198226","https://openalex.org/W4396950203","https://openalex.org/W4401397545","https://openalex.org/W4408278568"],"related_works":["https://openalex.org/W2937821374","https://openalex.org/W2567768896","https://openalex.org/W1966444660","https://openalex.org/W4306319569","https://openalex.org/W4404863849","https://openalex.org/W3014137751","https://openalex.org/W3096386969","https://openalex.org/W2982772764","https://openalex.org/W7099681207","https://openalex.org/W2126380346"],"abstract_inverted_index":{"BACKGROUND:":[0],"Idiopathic":[1],"pulmonary":[2,13],"arterial":[3],"hypertension":[4],"(IPAH)":[5],"is":[6,209,222,313],"a":[7,16],"rare":[8],"and":[9,70,97,106,120,184,244,251],"severe":[10],"form":[11],"of":[12,52,67,137,150,161,165,181,192,202,215,270,290,320,325,336],"hypertension,":[14],"with":[15,22,111,176,240],"genetic":[17,30,271],"basis":[18],"most":[19],"commonly":[20],"associated":[21],"mutations":[23,293],"in":[24,38,55,81,142,205,238,248,258,273,284,294,309],"the":[25,39,50,77,159,163,200,212,218,220,263,268,277,281,285,288,298,306,310,318,326],"BMPR2":[26,156,167,234,292,328],"gene.":[27],"However,":[28],"no":[29],"testing":[31,89,272],"has":[32],"been":[33,46],"reported":[34,237],"for":[35],"IPAH":[36,64,118,140,256,274,295,329],"patients":[37,119,141,146,275,296],"Russian":[40,278,299],"population,":[41],"nor":[42],"have":[43],"systematic":[44],"studies":[45,115],"conducted":[47,100],"to":[48,86,173,315],"assess":[49],"frequency":[51,201],"pathogenic":[53,151,178,195,291,327],"variants":[54,168,179,187,196,204,247,330],"this":[56],"group.":[57],"METHODS:":[58],"The":[59,190],"study":[60],"cohort":[61,207],"included":[62,113],"105":[63,138],"patients,":[65],"consisting":[66],"23":[68],"males":[69],"82":[71],"females,":[72],"who":[73],"were":[74,99,331],"managed":[75],"at":[76],"PH":[78],"care":[79],"center":[80],"Moscow,":[82],"Russia,":[83],"from":[84,170,217,254,276,297,305],"2014":[85],"2024.":[87],"Genetic":[88],"was":[90,126],"performed":[91,110],"using":[92,101,129],"whole-genome":[93],"sequencing.":[94],"Variant":[95],"identification":[96],"annotation":[98],"GATK,":[102],"DeepVariant,":[103],"VEP,":[104],"sv-callers":[105],"AnnotSV.":[107],"A":[108],"meta-analysis,":[109,219],"MOOSE,":[112],"24":[114],"involving":[116],"3124":[117],"470":[121],"P/LP":[122,166,203,233,246],"variants.":[123,157],"Pathogenicity":[124],"reassessment":[125],"carried":[127],"out":[128],"InterVar,":[130],"which":[131],"incorporates":[132],"ACMG":[133],"criteria.":[134],"RESULTS:":[135],"Analysis":[136],"adult":[139],"Russia":[143],"revealed":[144],"11":[145],"(10.48%)":[147,208],"as":[148,323,333],"carriers":[149],"or":[152,335],"likely":[153],"pathogenetic":[154],"(P/LP)":[155],"As":[158],"result":[160],"reassessment,":[162],"number":[164],"raised":[169],"394":[171],"(59%)":[172],"445":[174],"(67%)":[175],"80":[177],"became":[180,188],"uncertain":[182,337],"significance,":[183],"152":[185],"unclassified":[186],"P/LP.":[189],"meta-analysis":[191],"these":[193],"reevaluated":[194],"showed":[197],"that":[198],"while":[199],"our":[206],"lower":[210],"than":[211],"overall":[213,307],"average":[214,308],"17.75%":[216],"difference":[221],"not":[223,236,302],"statistically":[224],"significant":[225],"(p":[226],"=":[227],"0.062).":[228],"Additionally,":[229],"we":[230,266],"report":[231],"three":[232],"variants,":[235,322],"literature,":[239],"one":[241],"being":[242],"structural,":[243],"four":[245],"TBX4,":[249],"ATP13A3":[250],"AQP1":[252],"genes":[253,257],"27":[255],"3":[259],"patients.":[260],"CONCLUSIONS:":[261],"For":[262],"first":[264],"time,":[265],"present":[267],"results":[269],"population.":[279],"Despite":[280],"considerable":[282],"heterogeneity":[283],"world-wide":[286],"data,":[287],"prevalence":[289],"population":[300],"does":[301],"significantly":[303],"differ":[304],"meta-analysis.":[311],"It":[312],"crucial":[314],"periodically":[316],"reassess":[317],"pathogenicity":[319],"published":[321],"half":[324],"reclassified":[332],"LP":[334],"significance.":[338]},"counts_by_year":[],"updated_date":"2026-11-09T13:22:03.289127","created_date":"2025-04-15T00:00:00"}
