{"id":"https://openalex.org/W2161529637","doi":"https://doi.org/10.1093/nar/25.1.147","title":"Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene","display_name":"Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene","publication_year":1997,"publication_date":"1997-01-01","ids":{"openalex":"https://openalex.org/W2161529637","doi":"https://doi.org/10.1093/nar/25.1.147","mag":"2161529637","pmid":"https://pubmed.ncbi.nlm.nih.gov/9016526"},"language":"en","primary_location":{"id":"doi:10.1093/nar/25.1.147","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/25.1.147","pdf_url":"https://academic.oup.com/nar/article-pdf/25/1/147/3788733/25-1-147.pdf","source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://academic.oup.com/nar/article-pdf/25/1/147/3788733/25-1-147.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5105982241","display_name":"Gwena\u00eblle Collod\u2010B\u00e9roud","orcid":"https://orcid.org/0000-0003-4098-6161"},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"funder","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]}],"countries":["FR"],"is_corresponding":true,"raw_author_name":"G. Collod-Beroud","raw_affiliation_strings":["INSERM U383, H\u00f4pital Necker-Enfants Malades, Universit\u00e9 Ren\u00e9 Descartes, Paris V, 149-161 rue de S\u00e8vres, 75743 Paris Cedex 15, France","INSERM U383, H\u00f4pital Necker-Enfants Malades, Universit\u00e9 Ren\u00e9 Descartes, Paris V, 149\u2013161 rue de S\u00e8vres, 75743 Paris Cedex 15, France"],"affiliations":[{"raw_affiliation_string":"INSERM U383, H\u00f4pital Necker-Enfants Malades, Universit\u00e9 Ren\u00e9 Descartes, Paris V, 149-161 rue de S\u00e8vres, 75743 Paris Cedex 15, France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I154526488","https://openalex.org/I204730241"]},{"raw_affiliation_string":"INSERM U383, H\u00f4pital Necker-Enfants Malades, Universit\u00e9 Ren\u00e9 Descartes, Paris V, 149\u2013161 rue de S\u00e8vres, 75743 Paris Cedex 15, France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I154526488","https://openalex.org/I204730241"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085042865","display_name":"Christophe B\u00e9roud","orcid":"https://orcid.org/0000-0003-2986-8738"},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"funder","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"C. Beroud","raw_affiliation_strings":["INSERM U383, H\u00f4pital Necker-Enfants Malades, Universit\u00e9 Ren\u00e9 Descartes, Paris V, 149\u2013161 rue de S\u00e8vres, 75743 Paris Cedex 15, France"],"affiliations":[{"raw_affiliation_string":"INSERM U383, H\u00f4pital Necker-Enfants Malades, Universit\u00e9 Ren\u00e9 Descartes, Paris V, 149\u2013161 rue de S\u00e8vres, 75743 Paris Cedex 15, France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I154526488","https://openalex.org/I204730241"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019059377","display_name":"Lesley C. Ad\u00e8s","orcid":null},"institutions":[{"id":"https://openalex.org/I4210125633","display_name":"Sydney Children's Hospital","ror":"https://ror.org/02tj04e91","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I4210125633","https://openalex.org/I4210149013"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"L. Ades","raw_affiliation_strings":["Department of Medical Genetics, the New Children's Hospital, Parramata 2124, Sydney, Australia"],"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, the New Children's Hospital, Parramata 2124, Sydney, Australia","institution_ids":["https://openalex.org/I4210125633"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020733580","display_name":"Casilda G. Black","orcid":"https://orcid.org/0000-0002-0424-4593"},"institutions":[{"id":"https://openalex.org/I2802526638","display_name":"Ninewells Hospital","ror":"https://ror.org/039c6rk82","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800860831","https://openalex.org/I2802526638"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"C. Black","raw_affiliation_strings":["Molecular Genetics Laboratory, Department of Pathology, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK"],"affiliations":[{"raw_affiliation_string":"Molecular Genetics Laboratory, Department of Pathology, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK","institution_ids":["https://openalex.org/I2802526638"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112850728","display_name":"M. Boxer","orcid":null},"institutions":[{"id":"https://openalex.org/I2802526638","display_name":"Ninewells Hospital","ror":"https://ror.org/039c6rk82","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800860831","https://openalex.org/I2802526638"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"M. Boxer","raw_affiliation_strings":["Molecular Genetics Laboratory, Department of Pathology, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK"],"affiliations":[{"raw_affiliation_string":"Molecular Genetics Laboratory, Department of Pathology, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK","institution_ids":["https://openalex.org/I2802526638"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5106035924","display_name":"D. J. H. Brock","orcid":null},"institutions":[{"id":"https://openalex.org/I2800150677","display_name":"Western General Hospital","ror":"https://ror.org/009kr6r15","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1324252669","https://openalex.org/I2800150677"]},{"id":"https://openalex.org/I98677209","display_name":"University of Edinburgh","ror":"https://ror.org/01nrxwf90","country_code":"GB","type":"education","lineage":["https://openalex.org/I98677209"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"D. J. Brock","raw_affiliation_strings":["Human Genetics Unit, Department of Medicine, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK"],"affiliations":[{"raw_affiliation_string":"Human Genetics Unit, Department of Medicine, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK","institution_ids":["https://openalex.org/I2800150677","https://openalex.org/I98677209"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111463660","display_name":"Maurice Godfrey","orcid":null},"institutions":[{"id":"https://openalex.org/I59130452","display_name":"University of Nebraska Medical Center","ror":"https://ror.org/00thqtb16","country_code":"US","type":"funder","lineage":["https://openalex.org/I59130452"]},{"id":"https://openalex.org/I4210105714","display_name":"Center for Human Genetics","ror":"https://ror.org/01gcrbc43","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210105714"]},{"id":"https://openalex.org/I1307117695","display_name":"Nebraska Medical Center","ror":"https://ror.org/03azxga02","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1307117695"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"M. Godfrey","raw_affiliation_strings":["Department of Pediatrics, Munroe Center for Human Genetics, University of Nebraska Medical Center, Ohama, NE 68198, USA"],"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Munroe Center for Human Genetics, University of Nebraska Medical Center, Ohama, NE 68198, USA","institution_ids":["https://openalex.org/I1307117695","https://openalex.org/I59130452","https://openalex.org/I4210105714"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045835301","display_name":"Caroline Hayward","orcid":"https://orcid.org/0000-0002-9405-9550"},"institutions":[{"id":"https://openalex.org/I2800150677","display_name":"Western General Hospital","ror":"https://ror.org/009kr6r15","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1324252669","https://openalex.org/I2800150677"]},{"id":"https://openalex.org/I98677209","display_name":"University of Edinburgh","ror":"https://ror.org/01nrxwf90","country_code":"GB","type":"education","lineage":["https://openalex.org/I98677209"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"C. Hayward","raw_affiliation_strings":["Human Genetics Unit, Department of Medicine, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK"],"affiliations":[{"raw_affiliation_string":"Human Genetics Unit, Department of Medicine, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK","institution_ids":["https://openalex.org/I2800150677","https://openalex.org/I98677209"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085769688","display_name":"Leena Karttunen","orcid":null},"institutions":[{"id":"https://openalex.org/I4210133586","display_name":"Institute for Molecular Medicine Finland","ror":"https://ror.org/030sbze61","country_code":"FI","type":"facility","lineage":["https://openalex.org/I133731052","https://openalex.org/I4210133586"]}],"countries":["FI"],"is_corresponding":false,"raw_author_name":"L. Karttunen","raw_affiliation_strings":["National Public Health Institute, Department of Human Molecular Genetics, FIN-00300 Helsinki, Finland"],"affiliations":[{"raw_affiliation_string":"National Public Health Institute, Department of Human Molecular Genetics, FIN-00300 Helsinki, Finland","institution_ids":["https://openalex.org/I4210133586"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045738824","display_name":"D. Milewicz","orcid":null},"institutions":[{"id":"https://openalex.org/I919571938","display_name":"The University of Texas Health Science Center at Houston","ror":"https://ror.org/03gds6c39","country_code":"US","type":"education","lineage":["https://openalex.org/I919571938"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"D. Milewicz","raw_affiliation_strings":["University of Texas-Houston Medical School, Department of Internal Medicine, Houston, TX 77030, USA"],"affiliations":[{"raw_affiliation_string":"University of Texas-Houston Medical School, Department of Internal Medicine, Houston, TX 77030, USA","institution_ids":["https://openalex.org/I919571938"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111468133","display_name":"Leena Peltonen","orcid":null},"institutions":[{"id":"https://openalex.org/I4210133586","display_name":"Institute for Molecular Medicine Finland","ror":"https://ror.org/030sbze61","country_code":"FI","type":"facility","lineage":["https://openalex.org/I133731052","https://openalex.org/I4210133586"]}],"countries":["FI"],"is_corresponding":false,"raw_author_name":"L. Peltonen","raw_affiliation_strings":["National Public Health Institute, Department of Human Molecular Genetics, FIN-00300 Helsinki, Finland"],"affiliations":[{"raw_affiliation_string":"National Public Health Institute, Department of Human Molecular Genetics, FIN-00300 Helsinki, Finland","institution_ids":["https://openalex.org/I4210133586"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007390698","display_name":"Robert I. Richards","orcid":"https://orcid.org/0000-0002-5978-6453"},"institutions":[{"id":"https://openalex.org/I2801308011","display_name":"Women's and Children's Hospital","ror":"https://ror.org/03kwrfk72","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2801308011"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"R. I. Richards","raw_affiliation_strings":["Department of Medical Genetics, Women's and Children's Hospital, North Adelaide, SA 5006, Australia"],"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Women's and Children's Hospital, North Adelaide, SA 5006, Australia","institution_ids":["https://openalex.org/I2801308011"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005517802","display_name":"M. Wang","orcid":"https://orcid.org/0009-0005-8523-8361"},"institutions":[{"id":"https://openalex.org/I59130452","display_name":"University of Nebraska Medical Center","ror":"https://ror.org/00thqtb16","country_code":"US","type":"funder","lineage":["https://openalex.org/I59130452"]},{"id":"https://openalex.org/I1307117695","display_name":"Nebraska Medical Center","ror":"https://ror.org/03azxga02","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1307117695"]},{"id":"https://openalex.org/I4210105714","display_name":"Center for Human Genetics","ror":"https://ror.org/01gcrbc43","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210105714"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"M. Wang","raw_affiliation_strings":["Department of Pediatrics, Munroe Center for Human Genetics, University of Nebraska Medical Center, Ohama, NE 68198, USA"],"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Munroe Center for Human Genetics, University of Nebraska Medical Center, Ohama, NE 68198, USA","institution_ids":["https://openalex.org/I1307117695","https://openalex.org/I59130452","https://openalex.org/I4210105714"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091133941","display_name":"Claudine Junien","orcid":null},"institutions":[{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I4210133069","display_name":"H\u00f4pital Ambroise-Par\u00e9","ror":"https://ror.org/03j6rvb05","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210133069"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"funder","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"C. Junien","raw_affiliation_strings":["INSERM U383, H\u00f4pital Necker-Enfants Malades, Universit\u00e9 Ren\u00e9 Descartes, Paris V, 149\u2013161 rue de S\u00e8vres, 75743 Paris Cedex 15, France","Laboratoire Central de Biochimie et de G\u00e9n\u00e9tique Mol\u00e9culaire, CHU Ambroise Par\u00e9, Boulogne, France"],"affiliations":[{"raw_affiliation_string":"INSERM U383, H\u00f4pital Necker-Enfants Malades, Universit\u00e9 Ren\u00e9 Descartes, Paris V, 149\u2013161 rue de S\u00e8vres, 75743 Paris Cedex 15, France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I154526488","https://openalex.org/I204730241"]},{"raw_affiliation_string":"Laboratoire Central de Biochimie et de G\u00e9n\u00e9tique Mol\u00e9culaire, CHU Ambroise Par\u00e9, Boulogne, France","institution_ids":["https://openalex.org/I4210133069"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5055519983","display_name":"Cath\u00e9rine Boileau","orcid":"https://orcid.org/0000-0002-0371-7539"},"institutions":[{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I4210133069","display_name":"H\u00f4pital Ambroise-Par\u00e9","ror":"https://ror.org/03j6rvb05","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210133069"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"funder","lineage":["https://openalex.org/I154526488"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"C. Boileau","raw_affiliation_strings":["INSERM U383, H\u00f4pital Necker-Enfants Malades, Universit\u00e9 Ren\u00e9 Descartes, Paris V, 149\u2013161 rue de S\u00e8vres, 75743 Paris Cedex 15, France","Laboratoire Central de Biochimie et de G\u00e9n\u00e9tique Mol\u00e9culaire, CHU Ambroise Par\u00e9, Boulogne, France"],"affiliations":[{"raw_affiliation_string":"INSERM U383, H\u00f4pital Necker-Enfants Malades, Universit\u00e9 Ren\u00e9 Descartes, Paris V, 149\u2013161 rue de S\u00e8vres, 75743 Paris Cedex 15, France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I154526488","https://openalex.org/I204730241"]},{"raw_affiliation_string":"Laboratoire Central de Biochimie et de G\u00e9n\u00e9tique Mol\u00e9culaire, CHU Ambroise Par\u00e9, Boulogne, France","institution_ids":["https://openalex.org/I4210133069"]}]}],"institutions":[],"countries_distinct_count":5,"institutions_distinct_count":15,"corresponding_author_ids":["https://openalex.org/A5105982241"],"corresponding_institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I154526488","https://openalex.org/I204730241"],"apc_list":{"value":3630,"currency":"USD","value_usd":3630},"apc_paid":null,"fwci":2.6489,"has_fulltext":false,"cited_by_count":37,"citation_normalized_percentile":{"value":0.90570816,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"25","issue":"1","first_page":"147","last_page":"150"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research","score":1.0,"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"}},"topics":[{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research","score":1.0,"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/T12505","display_name":"Peptidase Inhibition and Analysis","score":0.9786999821662903,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"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/T10172","display_name":"Cardiac Valve Diseases and Treatments","score":0.972100019454956,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"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/fibrillin","display_name":"Fibrillin","score":0.8982976078987122},{"id":"https://openalex.org/keywords/missense-mutation","display_name":"Missense mutation","score":0.8311786651611328},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.8176538348197937},{"id":"https://openalex.org/keywords/marfan-syndrome","display_name":"Marfan syndrome","score":0.7450090646743774},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.6956238746643066},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.6218199133872986},{"id":"https://openalex.org/keywords/phenotype","display_name":"Phenotype","score":0.5501242876052856},{"id":"https://openalex.org/keywords/exon","display_name":"Exon","score":0.5496073365211487},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.5058740973472595},{"id":"https://openalex.org/keywords/database","display_name":"Database","score":0.435067355632782},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.05478900671005249}],"concepts":[{"id":"https://openalex.org/C76334062","wikidata":"https://www.wikidata.org/wiki/Q2909678","display_name":"Fibrillin","level":3,"score":0.8982976078987122},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.8311786651611328},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8176538348197937},{"id":"https://openalex.org/C2780561598","wikidata":"https://www.wikidata.org/wiki/Q208562","display_name":"Marfan syndrome","level":2,"score":0.7450090646743774},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6956238746643066},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.6218199133872986},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5501242876052856},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.5496073365211487},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5058740973472595},{"id":"https://openalex.org/C77088390","wikidata":"https://www.wikidata.org/wiki/Q8513","display_name":"Database","level":1,"score":0.435067355632782},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.05478900671005249},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.0},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000071837","descriptor_name":"Fibrillins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000071837","descriptor_name":"Fibrillins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000071837","descriptor_name":"Fibrillins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000071838","descriptor_name":"Fibrillin-1","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000071838","descriptor_name":"Fibrillin-1","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000071838","descriptor_name":"Fibrillin-1","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005796","descriptor_name":"Genes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005796","descriptor_name":"Genes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005796","descriptor_name":"Genes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008382","descriptor_name":"Marfan Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008382","descriptor_name":"Marfan Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008382","descriptor_name":"Marfan Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008840","descriptor_name":"Microfilament Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008840","descriptor_name":"Microfilament Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008840","descriptor_name":"Microfilament Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016208","descriptor_name":"Databases, Factual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016208","descriptor_name":"Databases, Factual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016208","descriptor_name":"Databases, Factual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D054392","descriptor_name":"Adipokines","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1093/nar/25.1.147","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/25.1.147","pdf_url":"https://academic.oup.com/nar/article-pdf/25/1/147/3788733/25-1-147.pdf","source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},{"id":"pmid:9016526","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9016526","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,"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":"Nucleic acids research","raw_type":null},{"id":"pmh:oai:digital.library.adelaide.edu.au:2440/11495","is_oa":true,"landing_page_url":"http://hdl.handle.net/2440/11495","pdf_url":null,"source":{"id":"https://openalex.org/S4306401835","display_name":"Adelaide Research & Scholarship (AR&S) (University of Adelaide)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I5681781","host_organization_name":"The University of Adelaide","host_organization_lineage":["https://openalex.org/I5681781"],"host_organization_lineage_names":[],"type":"repository"},"license":"public-domain","license_id":"https://openalex.org/licenses/public-domain","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://dx.doi.org/10.1093/nar/25.1.147","raw_type":"Journal article"},{"id":"pmh:oai:pubmedcentral.nih.gov:146361","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/146361","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"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":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Nucleic Acids Res","raw_type":null}],"best_oa_location":{"id":"doi:10.1093/nar/25.1.147","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/25.1.147","pdf_url":"https://academic.oup.com/nar/article-pdf/25/1/147/3788733/25-1-147.pdf","source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.6000000238418579,"display_name":"Good health and well-being"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320321445","display_name":"Assistance Publique - H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14"},{"id":"https://openalex.org/F4320326049","display_name":"Assistance publique-H\u00f4pitaux de Paris","ror":null}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2161529637.pdf","grobid_xml":"https://content.openalex.org/works/W2161529637.grobid-xml"},"referenced_works_count":38,"referenced_works":["https://openalex.org/W61187599","https://openalex.org/W188746894","https://openalex.org/W1555580499","https://openalex.org/W1984292795","https://openalex.org/W1985498506","https://openalex.org/W1991432766","https://openalex.org/W2017726138","https://openalex.org/W2018927757","https://openalex.org/W2020639229","https://openalex.org/W2027792758","https://openalex.org/W2036770882","https://openalex.org/W2046902885","https://openalex.org/W2051667040","https://openalex.org/W2053146170","https://openalex.org/W2055101039","https://openalex.org/W2056571800","https://openalex.org/W2060534190","https://openalex.org/W2065142552","https://openalex.org/W2066766358","https://openalex.org/W2068259566","https://openalex.org/W2077801152","https://openalex.org/W2078227152","https://openalex.org/W2080426796","https://openalex.org/W2083021648","https://openalex.org/W2083715055","https://openalex.org/W2085066917","https://openalex.org/W2085252674","https://openalex.org/W2115108065","https://openalex.org/W2129643670","https://openalex.org/W2138319932","https://openalex.org/W2146789646","https://openalex.org/W2146979392","https://openalex.org/W2149494129","https://openalex.org/W2151396485","https://openalex.org/W2160431619","https://openalex.org/W2170453898","https://openalex.org/W4235019056","https://openalex.org/W4235224941"],"related_works":["https://openalex.org/W2266919738","https://openalex.org/W2077424309","https://openalex.org/W2474968367","https://openalex.org/W44605724","https://openalex.org/W2037939768","https://openalex.org/W2908649410","https://openalex.org/W4251585539","https://openalex.org/W4366597299","https://openalex.org/W1995153757","https://openalex.org/W2594977192"],"abstract_inverted_index":{"Fibrillin":[0],"is":[1],"the":[2,10,22,62,75,92],"major":[3],"component":[4],"of":[5,44,77,91],"extracellular":[6],"microfibrils.":[7],"Mutations":[8],"in":[9,21,80],"fibrillin":[11],"gene":[12],"on":[13],"chromosome":[14],"15":[15],"(FBN1)":[16],"were":[17],"described":[18],"at":[19],"first":[20],"heritable":[23],"connective":[24],"tissue":[25],"disorder,":[26],"Marfan":[27,94],"syndrome":[28],"(MFS).":[29],"More":[30],"recently,":[31],"FBN1":[32],"has":[33,70,101],"also":[34],"been":[35,71,102],"shown":[36],"to":[37,41,48,104],"harbor":[38],"mutations":[39,51,79],"related":[40,47],"a":[42,81],"spectrum":[43],"conditions":[45],"phenotypically":[46],"MFS.":[49],"These":[50],"are":[52],"private,":[53],"essentially":[54],"missense,":[55],"generally":[56],"non-recurrent":[57],"and":[58,86,108],"widely":[59],"distributed":[60],"throughout":[61],"gene.":[63],"To":[64],"date":[65],"no":[66],"clear":[67],"genotype/phenotype":[68],"relationship":[69],"observed":[72],"excepted":[73],"for":[74],"localization":[76],"neonatal":[78],"cluster":[82],"between":[83],"exons":[84],"24":[85],"32.":[87],"The":[88,99],"second":[89],"version":[90],"computerized":[93],"database":[95],"contains":[96],"89":[97],"entries.":[98],"software":[100],"modified":[103],"accomodate":[105],"new":[106],"functions":[107],"routines.":[109]},"counts_by_year":[{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":6},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":1}],"updated_date":"2026-01-13T01:12:25.745995","created_date":"2025-10-10T00:00:00"}