{"id":"https://openalex.org/W2399424933","doi":null,"title":"Novel non-synonymous mutation in the transforming growth factor beta binding protein-like (TB) domain of the fibrillin-1 (FBN1) gene in a Han Chinese family with Marfan syndrome (MFS).","display_name":"Novel non-synonymous mutation in the transforming growth factor beta binding protein-like (TB) domain of the fibrillin-1 (FBN1) gene in a Han Chinese family with Marfan syndrome (MFS).","publication_year":2007,"publication_date":"2007-10-01","ids":{"openalex":"https://openalex.org/W2399424933","mag":"2399424933","pmid":"https://pubmed.ncbi.nlm.nih.gov/17984934"},"language":"en","primary_location":{"id":"pmid:17984934","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/17984934","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":"Neuro endocrinology letters","raw_type":"Journal Article"},"volume":null,"type":"article","indexed_in":["pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5100608601","display_name":"Yingying Qin","orcid":"https://orcid.org/0000-0002-0319-7799","observed_orcids":["https://orcid.org/0000-0002-0319-7799"]},"institutions":[{"id":"https://openalex.org/I154099455","display_name":"Shandong University","ror":"https://ror.org/0207yh398","country_code":"CN","type":"education","lineage":["https://openalex.org/I154099455"]},{"id":"https://openalex.org/I4210116517","display_name":"Shandong Provincial Hospital","ror":"https://ror.org/02ar2nf05","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210116517"]},{"id":"https://openalex.org/I4405277027","display_name":"Hospital for Reproductive Medicine Affiliated to Shandong University","ror":"https://ror.org/0168ksk34","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4405277027"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yingying Qin","raw_affiliation_strings":["Center for Reproductive Medicine, Shandong Provincial Hospital, Shandong University, Jinan, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Reproductive Medicine, Shandong Provincial Hospital, Shandong University, Jinan, China","institution_ids":["https://openalex.org/I154099455","https://openalex.org/I4210116517","https://openalex.org/I4405277027"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101476723","display_name":"Junhao Yan","orcid":"https://orcid.org/0000-0003-1780-2934","observed_orcids":["https://orcid.org/0000-0003-1780-2934"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Junhao Yan","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080697469","display_name":"Joe Leigh Simpson","orcid":"https://orcid.org/0000-0002-5309-6881","observed_orcids":["https://orcid.org/0000-0002-5309-6881"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Joe Leigh Simpson","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027108736","display_name":"Harvest Feng Gu","orcid":"https://orcid.org/0000-0003-4578-5449","observed_orcids":["https://orcid.org/0000-0003-4578-5449"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Harvest F Gu","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010572699","display_name":"Laicheng Wang","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Lai-Cheng Wang","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5108064842","display_name":"Zi\u2010Jiang Chen","orcid":"https://orcid.org/0000-0001-6637-6631","observed_orcids":["https://orcid.org/0000-0001-6637-6631"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Zi-Jiang Chen","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.3572,"has_fulltext":false,"cited_by_count":4,"citation_normalized_percentile":{"value":0.66050344,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":94},"biblio":{"volume":"28","issue":"5","first_page":"629","last_page":"32"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.0,"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/T12924","display_name":"Dermatological and Skeletal Disorders","score":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/marfan-syndrome","display_name":"Marfan syndrome","score":0.9879999756813049},{"id":"https://openalex.org/keywords/fibrillin-1","display_name":"fibrillin-1","score":0.9860000014305115},{"id":"https://openalex.org/keywords/fbn1-gene","display_name":"FBN1 gene","score":0.8989999890327454},{"id":"https://openalex.org/keywords/nonsynonymous-mutations","display_name":"non-synonymous mutations","score":0.8600000143051147},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.8180000185966492},{"id":"https://openalex.org/keywords/han-chinese-family","display_name":"Han Chinese family","score":0.859000027179718},{"id":"https://openalex.org/keywords/genetic-pathogenesis","display_name":"genetic pathogenesis","score":0.5950000286102295},{"id":"https://openalex.org/keywords/familial-inheritance","display_name":"familial inheritance","score":0.4580000042915344}],"concepts":[{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.8508755564689636},{"id":"https://openalex.org/C2780561598","wikidata":"https://www.wikidata.org/wiki/Q208562","display_name":"Marfan syndrome","level":2,"score":0.7371208071708679},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7093355655670166},{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.7091782689094543},{"id":"https://openalex.org/C76334062","wikidata":"https://www.wikidata.org/wiki/Q2909678","display_name":"Fibrillin","level":3,"score":0.6722232699394226},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.6407425403594971},{"id":"https://openalex.org/C2780942790","wikidata":"https://www.wikidata.org/wiki/Q372016","display_name":"Pathogenesis","level":2,"score":0.6151822209358215},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.6115138530731201},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5815261006355286},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5736923813819885},{"id":"https://openalex.org/C2994554639","wikidata":"https://www.wikidata.org/wiki/Q15977609","display_name":"Chinese family","level":3,"score":0.5272768139839172},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.24098750948905945},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.09228971600532532},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.06520584225654602}],"mesh":[{"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":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002681","descriptor_name":"China","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","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":"D008297","descriptor_name":"Male","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":true},{"descriptor_ui":"D008382","descriptor_name":"Marfan Syndrome","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008840","descriptor_name":"Microfilament Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008840","descriptor_name":"Microfilament Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017434","descriptor_name":"Protein Structure, Tertiary","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D019943","descriptor_name":"Amino Acid Substitution","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":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D053779","descriptor_name":"Latent TGF-beta Binding Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D054392","descriptor_name":"Adipokines","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:17984934","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/17984934","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":"Neuro endocrinology letters","raw_type":"Journal Article"},{"id":"mag:2399424933","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/17984934","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9391000270843506,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2415567201","https://openalex.org/W2103579643","https://openalex.org/W2317415943","https://openalex.org/W7096063384","https://openalex.org/W2922149358","https://openalex.org/W2144700604","https://openalex.org/W1505267641","https://openalex.org/W2756419933","https://openalex.org/W3028679019","https://openalex.org/W2109565787"],"abstract_inverted_index":{"In":[0,33],"order":[1],"to":[2],"further":[3],"understand":[4],"the":[5,14,34,55,65,84,110,120],"role":[6],"of":[7,16,64,113,122],"fibrillin-1":[8],"(FBN1,":[9],"OMIM":[10,20],"134797)":[11],"perturbations":[12],"in":[13,28,54,76,83,87,94,109,119,124],"pathogenesis":[15,121],"Marfan":[17],"syndrome":[18],"(MFS,":[19],"154700)":[21],"we":[22],"studied":[23],"a":[24,125],"Han":[25,126],"Chinese":[26,35,127],"family":[27,36,91,97],"which":[29],"MFS":[30,123],"was":[31,45,68,81],"segregating.":[32],"with":[37],"5":[38],"affected":[39,90],"members,":[40,92],"mutation":[41,53,72,80],"screening":[42],"for":[43],"FBN1":[44,66,114],"performed":[46],"using":[47],"direct":[48],"sequencing.":[49],"A":[50],"novel":[51,104],"non-synonymous":[52,105],"transforming":[56],"growth":[57],"factor":[58],"beta":[59],"binding":[60],"protein-like":[61],"(TB)":[62],"domain":[63,112],"gene":[67],"found.":[69],"The":[70,103],"missense":[71],"c.3022T>C":[73,107],"(C1008R)":[74,108],"located":[75],"exon":[77],"24.":[78],"This":[79],"present":[82],"proband":[85],"and":[86],"two":[88],"other":[89],"but":[93],"neither":[95],"unaffected":[96],"members":[98],"nor":[99],"unrelated":[100],"control":[101],"subjects.":[102],"mutation,":[106],"TB":[111],"gene,":[115],"may":[116],"be":[117],"involved":[118],"family.":[128]},"counts_by_year":[{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}