{"id":"https://openalex.org/W2011884985","doi":"https://doi.org/10.1093/hmg/11.8.915","title":"Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways","display_name":"Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways","publication_year":2002,"publication_date":"2002-04-15","ids":{"openalex":"https://openalex.org/W2011884985","doi":"https://doi.org/10.1093/hmg/11.8.915","mag":"2011884985","pmid":"https://pubmed.ncbi.nlm.nih.gov/11971873"},"language":"en","primary_location":{"id":"doi:10.1093/hmg/11.8.915","doi":"https://doi.org/10.1093/hmg/11.8.915","is_oa":false,"landing_page_url":"https://doi.org/10.1093/hmg/11.8.915","pdf_url":null,"source":{"id":"https://openalex.org/S166515463","display_name":"Human Molecular Genetics","issn_l":"0964-6906","issn":["0964-6906","1460-2083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"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":"Human Molecular Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","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/A5003825780","display_name":"Francesca Vitelli","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"F. Vitelli","raw_affiliation_strings":["Department of Pediatrics (Cardiology), Baylor College of Medicine, Houston, TX 77030, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics (Cardiology), Baylor College of Medicine, Houston, TX 77030, USA","institution_ids":["https://openalex.org/I181547552"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5003825780"],"corresponding_institution_ids":["https://openalex.org/I181547552"],"apc_list":{"value":4390,"currency":"USD","value_usd":4390},"apc_paid":null,"fwci":8.4543,"has_fulltext":false,"cited_by_count":330,"citation_normalized_percentile":{"value":0.98682453,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":95,"max":100},"biblio":{"volume":"11","issue":"8","first_page":"915","last_page":"922"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11677","display_name":"Congenital heart defects research","score":0.9878000020980835,"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":0.9878000020980835,"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/T10268","display_name":"Developmental Biology and Gene Regulation","score":0.007300000172108412,"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/T11679","display_name":"Craniofacial Disorders and Treatments","score":0.000699999975040555,"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/tbx1","display_name":"Tbx1","score":0.9929999709129333},{"id":"https://openalex.org/keywords/22q11-2-deletion-syndrome","display_name":"22q11.2 deletion syndrome","score":0.9919999837875366},{"id":"https://openalex.org/keywords/cardiovascular-defects","display_name":"cardiovascular defects","score":0.9179999828338623},{"id":"https://openalex.org/keywords/pharyngeal-arch-arteries","display_name":"pharyngeal arch arteries","score":0.9580000042915344},{"id":"https://openalex.org/keywords/outflow-tract-development","display_name":"outflow tract development","score":0.7120000123977661},{"id":"https://openalex.org/keywords/neural-crest-migration","display_name":"neural crest migration","score":0.7059999704360962},{"id":"https://openalex.org/keywords/haploinsufficiency","display_name":"haploinsufficiency","score":0.8489999771118164},{"id":"https://openalex.org/keywords/heart-development","display_name":"heart development","score":0.414000004529953}],"concepts":[{"id":"https://openalex.org/C68473852","wikidata":"https://www.wikidata.org/wiki/Q18031845","display_name":"TBX1","level":5,"score":0.9444629549980164},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.859258770942688},{"id":"https://openalex.org/C126749454","wikidata":"https://www.wikidata.org/wiki/Q1348455","display_name":"Neural crest","level":3,"score":0.7140671610832214},{"id":"https://openalex.org/C68838962","wikidata":"https://www.wikidata.org/wiki/Q852654","display_name":"Haploinsufficiency","level":4,"score":0.6982134580612183},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.6286015510559082},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.41496971249580383},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.36211782693862915},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.36144599318504333},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.328959196805954},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.21454158425331116},{"id":"https://openalex.org/C101762097","wikidata":"https://www.wikidata.org/wiki/Q224093","display_name":"Promoter","level":4,"score":0.07673361897468567}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001158","descriptor_name":"Arteries","qualifier_ui":"Q000196","qualifier_name":"embryology","is_major_topic":false},{"descriptor_ui":"D001934","descriptor_name":"Branchial Region","qualifier_ui":"Q000098","qualifier_name":"blood supply","is_major_topic":false},{"descriptor_ui":"D003389","descriptor_name":"Cranial Nerve Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003391","descriptor_name":"Cranial Nerves","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":false},{"descriptor_ui":"D003391","descriptor_name":"Cranial Nerves","qualifier_ui":"Q000196","qualifier_name":"embryology","is_major_topic":true},{"descriptor_ui":"D004062","descriptor_name":"DiGeorge Syndrome","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D004062","descriptor_name":"DiGeorge Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004707","descriptor_name":"Endoderm","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008810","descriptor_name":"Mice, Inbred C57BL","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009432","descriptor_name":"Neural Crest","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":false},{"descriptor_ui":"D009432","descriptor_name":"Neural Crest","qualifier_ui":"Q000196","qualifier_name":"embryology","is_major_topic":true},{"descriptor_ui":"D009432","descriptor_name":"Neural Crest","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D009434","descriptor_name":"Neural Pathways","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":true},{"descriptor_ui":"D017933","descriptor_name":"Peripheral Nervous System","qualifier_ui":"Q000196","qualifier_name":"embryology","is_major_topic":false},{"descriptor_ui":"D018376","descriptor_name":"Cardiovascular Abnormalities","qualifier_ui":"Q000196","qualifier_name":"embryology","is_major_topic":true},{"descriptor_ui":"D018376","descriptor_name":"Cardiovascular Abnormalities","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D019521","descriptor_name":"Body Patterning","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D019521","descriptor_name":"Body Patterning","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D020825","descriptor_name":"T-Box Domain Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020825","descriptor_name":"T-Box Domain Proteins","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":true},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1093/hmg/11.8.915","doi":"https://doi.org/10.1093/hmg/11.8.915","is_oa":false,"landing_page_url":"https://doi.org/10.1093/hmg/11.8.915","pdf_url":null,"source":{"id":"https://openalex.org/S166515463","display_name":"Human Molecular Genetics","issn_l":"0964-6906","issn":["0964-6906","1460-2083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"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":"Human Molecular Genetics","raw_type":"journal-article"},{"id":"pmid:11971873","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11971873","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":"Human molecular genetics","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9391000270843506,"id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[{"display_name":"Good health and well-being","score":0.7599999904632568,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G7106568227","display_name":"Molecular Cytogenetics of Congenital Heart Malformation","funder_award_id":"R01HL051524","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G7613458158","display_name":"Identification and Characterization of Genes from del22q","funder_award_id":"R01HL064832","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G8795251637","display_name":"Development/Genetic Aspects of Congenital Heart Disease","funder_award_id":"P01HL067155","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"}],"funders":[{"id":"https://openalex.org/F4320306230","display_name":"American Heart Association","ror":"https://ror.org/013kjyp64"},{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":26,"referenced_works":["https://openalex.org/W611636604","https://openalex.org/W1495669599","https://openalex.org/W1501608538","https://openalex.org/W1506409704","https://openalex.org/W1512428747","https://openalex.org/W1931060259","https://openalex.org/W1977926834","https://openalex.org/W1982478041","https://openalex.org/W1989003609","https://openalex.org/W2001243412","https://openalex.org/W2002732720","https://openalex.org/W2003744362","https://openalex.org/W2021593538","https://openalex.org/W2022841128","https://openalex.org/W2051026229","https://openalex.org/W2064871680","https://openalex.org/W2075288923","https://openalex.org/W2114919588","https://openalex.org/W2123282017","https://openalex.org/W2140279570","https://openalex.org/W2142374163","https://openalex.org/W2143481531","https://openalex.org/W2145994265","https://openalex.org/W2148037744","https://openalex.org/W2151504171","https://openalex.org/W2170738418"],"related_works":["https://openalex.org/W2076007521","https://openalex.org/W2064936347","https://openalex.org/W2789291595","https://openalex.org/W1506409704","https://openalex.org/W2032825939","https://openalex.org/W867876539","https://openalex.org/W4248968858","https://openalex.org/W2071699551","https://openalex.org/W3022765274","https://openalex.org/W2140279570"],"abstract_inverted_index":{"TBX1":[0],"is":[1,18,30,180,194],"the":[2,15,33,43,52,90,98,102,125,128,137,143,160,163,171,183,190],"major":[3],"candidate":[4,25],"gene":[5,17,113],"for":[6,22,32],"DiGeorge":[7],"syndrome":[8],"(DGS).":[9],"Mouse":[10],"studies":[11],"have":[12],"shown":[13],"that":[14,28,66,178],"Tbx1":[16,57,67,164],"haploinsufficient,":[19],"as":[20,40],"expected":[21],"a":[23,48,70,116,121,132,152,186],"DGS":[24,44],"gene,":[26],"and":[27,38,75,87,95,106,112,131,139,170],"it":[29],"required":[31],"development":[34,83],"of":[35,51,72,89,97,101,110,127,142,155,162,185],"pharyngeal":[36,91,129,144],"arches":[37],"pouches,":[39],"predicted":[41],"by":[42],"clinical":[45],"phenotype.":[46],"However,":[47],"detailed":[49],"analysis":[50],"cardiovascular":[53,82],"phenotype":[54,111],"associated":[55],"with":[56],"mutations":[58],"has":[59],"not":[60,150],"been":[61],"reported.":[62],"Here":[63],"we":[64],"show":[65],"deficiency":[68],"causes":[69],"number":[71],"distinct":[73],"vascular":[74],"heart":[76],"defects,":[77],"suggesting":[78],"multiple":[79],"roles":[80],"in":[81,124,136,159,196],"-":[84],"specifically":[85],"formation":[86],"growth":[88,94,126,138],"arch":[92,145],"arteries,":[93],"septation":[96],"outflow":[99],"tract":[100],"heart,":[103],"interventricular":[104],"septation,":[105],"conal":[107],"alignment.":[108],"Comparison":[109],"expression":[114],"using":[115],"Tbx1-lacZ":[117],"reporter":[118],"allele":[119],"supports":[120],"cell-autonomous":[122],"function":[123,135],"apparatus,":[130],"cell":[133],"non-autonomous":[134],"early":[140],"remodeling":[141],"arteries.":[146],"Our":[147],"data":[148],"do":[149],"support":[151],"direct":[153],"role":[154,188],"neural":[156],"crest":[157],"cells":[158],"pathogenesis":[161],"mutant":[165],"phenotype;":[166],"however,":[167],"these":[168,197],"cells,":[169],"cranial":[172],"nerves,":[173],"are":[174],"misdirected.":[175],"We":[176],"hypothesize":[177],"this":[179],"due":[181],"to":[182],"lack":[184],"guidance":[187],"from":[189],"pouch":[191],"endoderm,":[192],"which":[193],"missing":[195],"mutants.":[198]},"counts_by_year":[{"year":2026,"cited_by_count":4},{"year":2025,"cited_by_count":6},{"year":2024,"cited_by_count":7},{"year":2023,"cited_by_count":11},{"year":2022,"cited_by_count":7},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":9},{"year":2019,"cited_by_count":13},{"year":2018,"cited_by_count":12},{"year":2017,"cited_by_count":9},{"year":2016,"cited_by_count":13},{"year":2015,"cited_by_count":21},{"year":2014,"cited_by_count":16},{"year":2013,"cited_by_count":21},{"year":2012,"cited_by_count":19}],"updated_date":"2026-11-01T11:40:01.658920","created_date":"2016-06-24T00:00:00"}
