{"id":"https://openalex.org/W2420047487","doi":null,"title":"Single nucleotide polymorphism of NKX2-5 gene with sporadic congenital heart disease in Chinese Bai population.","display_name":"Single nucleotide polymorphism of NKX2-5 gene with sporadic congenital heart disease in Chinese Bai population.","publication_year":2015,"publication_date":"2015-01-01","ids":{"openalex":"https://openalex.org/W2420047487","mag":"2420047487","pmid":"https://pubmed.ncbi.nlm.nih.gov/26823822","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/4713608"},"language":"en","primary_location":{"id":"pmid:26823822","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/26823822","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":"International journal of clinical and experimental pathology","raw_type":"Journal Article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC4713608/","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5069941190","display_name":"Yu Qing Cao","orcid":"https://orcid.org/0000-0001-8282-7359","observed_orcids":["https://orcid.org/0000-0001-8282-7359"]},"institutions":[{"id":"https://openalex.org/I26080491","display_name":"Kunming Medical University","ror":"https://ror.org/038c3w259","country_code":"CN","type":"education","lineage":["https://openalex.org/I26080491"]},{"id":"https://openalex.org/I4210146235","display_name":"Yan'an Hospital Affiliated To Kunming Medical University","ror":"https://ror.org/05ctyj936","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210146235"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yu Cao","raw_affiliation_strings":["Yan'an Affiliated Hospital of Kunming Medical University, Kunming Medical University, Kunming Yan'an Hospital Kunming 650051, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Yan'an Affiliated Hospital of Kunming Medical University, Kunming Medical University, Kunming Yan'an Hospital Kunming 650051, China","institution_ids":["https://openalex.org/I26080491","https://openalex.org/I4210146235"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Weixing Lan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210090903","display_name":"Liuzhou General Hospital","ror":"https://ror.org/00er4d216","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210090903"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Weixing Lan","raw_affiliation_strings":["Liuzhou Municipal Liutie Central Hospital Liuzhou 545007, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Liuzhou Municipal Liutie Central Hospital Liuzhou 545007, China","institution_ids":["https://openalex.org/I4210090903"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102020141","display_name":"Yaxiong Li","orcid":"https://orcid.org/0000-0003-2661-5524","observed_orcids":["https://orcid.org/0000-0003-2661-5524"]},"institutions":[{"id":"https://openalex.org/I26080491","display_name":"Kunming Medical University","ror":"https://ror.org/038c3w259","country_code":"CN","type":"education","lineage":["https://openalex.org/I26080491"]},{"id":"https://openalex.org/I4210146235","display_name":"Yan'an Hospital Affiliated To Kunming Medical University","ror":"https://ror.org/05ctyj936","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210146235"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yaxiong Li","raw_affiliation_strings":["Yan'an Affiliated Hospital of Kunming Medical University, Kunming Medical University, Kunming Yan'an Hospital Kunming 650051, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Yan'an Affiliated Hospital of Kunming Medical University, Kunming Medical University, Kunming Yan'an Hospital Kunming 650051, China","institution_ids":["https://openalex.org/I26080491","https://openalex.org/I4210146235"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102077129","display_name":"Chuanyu Wei","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I26080491","display_name":"Kunming Medical University","ror":"https://ror.org/038c3w259","country_code":"CN","type":"education","lineage":["https://openalex.org/I26080491"]},{"id":"https://openalex.org/I4210146235","display_name":"Yan'an Hospital Affiliated To Kunming Medical University","ror":"https://ror.org/05ctyj936","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210146235"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Chuanyu Wei","raw_affiliation_strings":["Yan'an Affiliated Hospital of Kunming Medical University, Kunming Medical University, Kunming Yan'an Hospital Kunming 650051, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Yan'an Affiliated Hospital of Kunming Medical University, Kunming Medical University, Kunming Yan'an Hospital Kunming 650051, China","institution_ids":["https://openalex.org/I26080491","https://openalex.org/I4210146235"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066630413","display_name":"Honglin Zou","orcid":"https://orcid.org/0000-0002-0860-4170","observed_orcids":["https://orcid.org/0000-0002-0860-4170"]},"institutions":[{"id":"https://openalex.org/I26080491","display_name":"Kunming Medical University","ror":"https://ror.org/038c3w259","country_code":"CN","type":"education","lineage":["https://openalex.org/I26080491"]},{"id":"https://openalex.org/I4210146235","display_name":"Yan'an Hospital Affiliated To Kunming Medical University","ror":"https://ror.org/05ctyj936","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210146235"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Honglin Zou","raw_affiliation_strings":["Yan'an Affiliated Hospital of Kunming Medical University, Kunming Medical University, Kunming Yan'an Hospital Kunming 650051, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Yan'an Affiliated Hospital of Kunming Medical University, Kunming Medical University, Kunming Yan'an Hospital Kunming 650051, China","institution_ids":["https://openalex.org/I26080491","https://openalex.org/I4210146235"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5101953644","display_name":"Lihong Jiang","orcid":"https://orcid.org/0000-0002-5759-2903","observed_orcids":["https://orcid.org/0000-0002-5759-2903"]},"institutions":[{"id":"https://openalex.org/I26080491","display_name":"Kunming Medical University","ror":"https://ror.org/038c3w259","country_code":"CN","type":"education","lineage":["https://openalex.org/I26080491"]},{"id":"https://openalex.org/I4210146235","display_name":"Yan'an Hospital Affiliated To Kunming Medical University","ror":"https://ror.org/05ctyj936","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210146235"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Lihong Jiang","raw_affiliation_strings":["Yan'an Affiliated Hospital of Kunming Medical University, Kunming Medical University, Kunming Yan'an Hospital Kunming 650051, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Yan'an Affiliated Hospital of Kunming Medical University, Kunming Medical University, Kunming Yan'an Hospital Kunming 650051, China","institution_ids":["https://openalex.org/I26080491","https://openalex.org/I4210146235"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.3459,"has_fulltext":false,"cited_by_count":16,"citation_normalized_percentile":{"value":0.5354598,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"8","issue":"11","first_page":"14917","last_page":"24"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11677","display_name":"Congenital heart defects research","score":0.9746000170707703,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T11677","display_name":"Congenital heart defects research","score":0.9746000170707703,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T10300","display_name":"Congenital Heart Disease Studies","score":0.009800000116229057,"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"}},{"id":"https://openalex.org/T10217","display_name":"Cardiac electrophysiology and arrhythmias","score":0.008500000461935997,"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/nkx2-5","display_name":"Nkx2.5","score":0.9340000152587891},{"id":"https://openalex.org/keywords/congenital-heart-disease","display_name":"congenital heart disease","score":0.9449999928474426},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphisms","display_name":"single nucleotide polymorphisms","score":0.890999972820282},{"id":"https://openalex.org/keywords/tetralogy-of-fallot","display_name":"tetralogy of Fallot","score":0.9279999732971191},{"id":"https://openalex.org/keywords/persistent-left-superior-vena-cava","display_name":"persistent left superior vena cava","score":0.996999979019165},{"id":"https://openalex.org/keywords/genetic-susceptibility","display_name":"genetic susceptibility","score":0.7549999952316284},{"id":"https://openalex.org/keywords/bai-people","display_name":"Bai people","score":0.5820000171661377},{"id":"https://openalex.org/keywords/heart-morphogenesis","display_name":"cardiac morphogenesis","score":0.8489999771118164}],"concepts":[{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7029163837432861},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6456506848335266},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.6443995237350464},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.5030857920646667},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.4880470037460327},{"id":"https://openalex.org/C2780074459","wikidata":"https://www.wikidata.org/wiki/Q389735","display_name":"Heart disease","level":2,"score":0.4586162567138672},{"id":"https://openalex.org/C139275648","wikidata":"https://www.wikidata.org/wiki/Q17134011","display_name":"SNP","level":5,"score":0.4477812349796295},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4435265064239502},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.43883663415908813},{"id":"https://openalex.org/C2778646171","wikidata":"https://www.wikidata.org/wiki/Q445307","display_name":"Tetralogy of Fallot","level":3,"score":0.43002790212631226},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.30267101526260376},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2126833200454712}],"mesh":[{"descriptor_ui":"D000072576","descriptor_name":"Homeobox Protein Nkx-2.5","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","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":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006330","descriptor_name":"Heart Defects, Congenital","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"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":"D014157","descriptor_name":"Transcription Factors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018398","descriptor_name":"Homeodomain Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020133","descriptor_name":"Reverse Transcriptase Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D044466","descriptor_name":"Asian People","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":3,"locations":[{"id":"pmid:26823822","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/26823822","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":"International journal of clinical and experimental pathology","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:4713608","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC4713608/","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Int J Clin Exp Pathol","raw_type":"Text"},{"id":"mag:2420047487","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/26823822","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":{"id":"pmh:oai:pubmedcentral.nih.gov:4713608","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC4713608/","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Int J Clin Exp Pathol","raw_type":"Text"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9922999739646912}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":36,"referenced_works":["https://openalex.org/W1489376658","https://openalex.org/W1538467644","https://openalex.org/W1965519414","https://openalex.org/W1970063220","https://openalex.org/W1974276406","https://openalex.org/W1975616148","https://openalex.org/W1976530870","https://openalex.org/W1981347652","https://openalex.org/W1990137213","https://openalex.org/W1993521714","https://openalex.org/W2003027455","https://openalex.org/W2005435367","https://openalex.org/W2007667555","https://openalex.org/W2016368778","https://openalex.org/W2029206478","https://openalex.org/W2030447006","https://openalex.org/W2031095651","https://openalex.org/W2040686597","https://openalex.org/W2045178936","https://openalex.org/W2050856345","https://openalex.org/W2073195845","https://openalex.org/W2073860278","https://openalex.org/W2090289324","https://openalex.org/W2104655384","https://openalex.org/W2106242560","https://openalex.org/W2114430445","https://openalex.org/W2121509632","https://openalex.org/W2121711853","https://openalex.org/W2129389937","https://openalex.org/W2136015585","https://openalex.org/W2136170142","https://openalex.org/W2141804334","https://openalex.org/W2163012138","https://openalex.org/W2167604198","https://openalex.org/W2349035722","https://openalex.org/W4211191293"],"related_works":["https://openalex.org/W2743333922","https://openalex.org/W1154603765","https://openalex.org/W2369295563","https://openalex.org/W1967125495","https://openalex.org/W4403982027","https://openalex.org/W3030124040","https://openalex.org/W2144973013","https://openalex.org/W2328965943","https://openalex.org/W3194465104","https://openalex.org/W2073195845"],"abstract_inverted_index":{"BACKGROUND:":[0],"Congenital":[1],"heart":[2],"disease":[3],"(CHD)":[4],"is":[5,21],"the":[6,16,25,41,53,154,171,179],"most":[7],"common":[8],"birth":[9],"abnormality,":[10],"especially":[11],"for":[12],"sporadic":[13,19,48,61,91,182],"CHD.":[14,49,157],"However,":[15],"etiology":[17],"of":[18,28,43,55,58,77,111,130,156,174,181],"CHD":[20,62,92,137,183],"largely":[22],"unknown.":[23],"NKX2-5,":[24],"earliest":[26],"sign":[27],"cardiac":[29,38],"progenitor":[30],"cell":[31],"differentiation,":[32],"plays":[33],"a":[34],"key":[35],"role":[36],"in":[37,63,85,108,126,136,144,184],"morphogenesis,":[39],"and":[40,73,93,115,149,168,170],"mutation":[42],"this":[44],"gene":[45,79,176],"can":[46],"cause":[47],"PURPOSE:":[50],"To":[51],"investigate":[52],"association":[54],"genetic":[56],"variations":[57],"NKX2-5":[59,78,175],"with":[60,90,153,166],"Chinese":[64,87,185],"Bai":[65,88,186],"people.":[66,187],"METHODS:":[67],"The":[68,128,147,159],"whole":[69],"2":[70],"coding":[71],"exons":[72],"flanking":[74],"intron":[75],"sequences":[76],"were":[80,151],"screened":[81],"using":[82],"DNA":[83,101],"sequencing":[84],"70":[86],"patients":[89],"136":[94],"healthy":[95],"controls.":[96,127],"RESULTS:":[97],"A":[98],"novel":[99,160],"heterozygous":[100],"sequence":[102],"variant":[103],"(DSV),":[104],"1433A>G,":[105],"was":[106,139],"identified":[107],"one":[109,116],"tetralogy":[110],"Fallot":[112],"(TOF)":[113],"patient":[114],"persistent":[117],"left":[118],"superior":[119],"vena":[120],"cava":[121],"(PLSVC)":[122],"patient,":[123],"but":[124],"none":[125],"frequency":[129],"single":[131],"nucleotide":[132],"polymorphism":[133],"(SNP)":[134],"rs2277923":[135,173],"group":[138],"significantly":[140],"higher":[141],"than":[142],"that":[143],"control":[145],"group.":[146],"allele":[148],"genotype":[150],"associated":[152],"occurrence":[155],"CONCLUSION:":[158],"DSV":[161],"(1433A>G)":[162],"may":[163],"be":[164],"relevant":[165],"TOF":[167],"PLSVC,":[169],"SNP":[172],"contributes":[177],"to":[178],"risk":[180]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":1}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}
