{"id":"https://openalex.org/W4394534946","doi":"https://doi.org/10.6084/m9.figshare.5104705","title":"Supplementary Material for: Specific transcriptional changes in human fetuses with autosomal trisomies","display_name":"Supplementary Material for: Specific transcriptional changes in human fetuses with autosomal trisomies","publication_year":2008,"publication_date":"2008-01-01","ids":{"openalex":"https://openalex.org/W4394534946","doi":"https://doi.org/10.6084/m9.figshare.5104705"},"language":"en","primary_location":{"id":"pmh:oai:figshare.com:article/5104705","doi":null,"is_oa":true,"landing_page_url":"https://figshare.com/articles/dataset/Supplementary_Material_for_Specific_transcriptional_changes_in_human_fetuses_with_autosomal_trisomies/5104705","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Dataset"},"volume":null,"type":"supplementary-materials","is_traditional":false,"indexed_in":["datacite"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://figshare.com/articles/dataset/Supplementary_Material_for_Specific_transcriptional_changes_in_human_fetuses_with_autosomal_trisomies/5104705","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5031068456","display_name":"\u00d6zge Altug-Teber","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Altug-Teber \u00d6.","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Bonin, M.","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Bonin, M.","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Walter, M.","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Walter, M.","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066414839","display_name":"Ulrike Angelika Mau-Holzmann","orcid":"https://orcid.org/0000-0002-4125-4643","observed_orcids":["https://orcid.org/0000-0002-4125-4643"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mau-Holzmann, U.A.","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060022400","display_name":"Andreas Dufke","orcid":"https://orcid.org/0000-0002-5616-5010","observed_orcids":["https://orcid.org/0000-0002-5616-5010"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Dufke, A.","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056722082","display_name":"Heike Stappert","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Stappert, H.","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037125588","display_name":"ISMAIL TEKESIN","orcid":"https://orcid.org/0000-0002-5591-522X","observed_orcids":["https://orcid.org/0000-0002-5591-522X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Tekesin, I.","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045942447","display_name":"Helmut Heilbronner","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Heilbronner, H.","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061586847","display_name":"Kay Nieselt","orcid":"https://orcid.org/0000-0002-1283-7065","observed_orcids":["https://orcid.org/0000-0002-1283-7065"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Nieselt, K.","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":null,"display_name":"Riess, O.","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Riess, O.","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11015","display_name":"Down syndrome and intellectual disability research","score":0.4982999861240387,"subfield":{"id":"https://openalex.org/subfields/2739","display_name":"Public Health, Environmental and Occupational Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T11015","display_name":"Down syndrome and intellectual disability research","score":0.4982999861240387,"subfield":{"id":"https://openalex.org/subfields/2739","display_name":"Public Health, Environmental and Occupational Health"},"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.19380000233650208,"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/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.1826999932527542,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"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/autosomal-trisomy","display_name":"autosomal trisomy","score":0.9279999732971191},{"id":"https://openalex.org/keywords/trisomy-13","display_name":"trisomy 13","score":1.0},{"id":"https://openalex.org/keywords/trisomy-18","display_name":"trisomy 18","score":0.9829999804496765},{"id":"https://openalex.org/keywords/down-syndrome","display_name":"Down syndrome","score":0.9710000157356262},{"id":"https://openalex.org/keywords/transcriptional-dysregulation","display_name":"transcriptional dysregulation","score":0.8669999837875366},{"id":"https://openalex.org/keywords/gene-dosage-effect","display_name":"gene dosage effect","score":0.746999979019165},{"id":"https://openalex.org/keywords/aneuploidy","display_name":"aneuploidy","score":0.7360000014305115},{"id":"https://openalex.org/keywords/dscr1","display_name":"DSCR1","score":0.7549999952316284},{"id":"https://openalex.org/keywords/fetal-heart-development","display_name":"fetal heart development","score":0.7829999923706055},{"id":"https://openalex.org/keywords/amniocytes","display_name":"amniocytes","score":0.8989999890327454},{"id":"https://openalex.org/keywords/transcriptome","display_name":"transcriptome","score":0.6079999804496765},{"id":"https://openalex.org/keywords/prenatal-development","display_name":"prenatal development","score":0.33899998664855957}],"concepts":[{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.5228574275970459},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.510957658290863},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4955223798751831},{"id":"https://openalex.org/C2776229224","wikidata":"https://www.wikidata.org/wiki/Q844903","display_name":"Trisomy","level":2,"score":0.46920672059059143},{"id":"https://openalex.org/C78458016","wikidata":"https://www.wikidata.org/wiki/Q840400","display_name":"Evolutionary biology","level":1,"score":0.33806073665618896},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.14573130011558533}],"mesh":[],"locations_count":3,"locations":[{"id":"pmh:oai:figshare.com:article/5104705","doi":null,"is_oa":true,"landing_page_url":"https://figshare.com/articles/dataset/Supplementary_Material_for_Specific_transcriptional_changes_in_human_fetuses_with_autosomal_trisomies/5104705","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Dataset"},{"id":"doi:10.6084/m9.figshare.5104705","doi":"https://doi.org/10.6084/m9.figshare.5104705","is_oa":true,"landing_page_url":"https://doi.org/10.6084/m9.figshare.5104705","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Dataset"},{"id":"doi:10.6084/m9.figshare.5104705.v1","doi":"https://doi.org/10.6084/m9.figshare.5104705.v1","is_oa":true,"landing_page_url":"https://doi.org/10.6084/m9.figshare.5104705.v1","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Dataset"}],"best_oa_location":{"id":"pmh:oai:figshare.com:article/5104705","doi":null,"is_oa":true,"landing_page_url":"https://figshare.com/articles/dataset/Supplementary_Material_for_Specific_transcriptional_changes_in_human_fetuses_with_autosomal_trisomies/5104705","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Dataset"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8048999905586243}],"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/W1991766077","https://openalex.org/W2474852215","https://openalex.org/W2159929448","https://openalex.org/W2103857395","https://openalex.org/W2091077369","https://openalex.org/W2767099807","https://openalex.org/W2162590082","https://openalex.org/W2085702771","https://openalex.org/W2039614939","https://openalex.org/W3006133512"],"abstract_inverted_index":{"Among":[0],"full":[1],"autosomal":[2,221],"trisomies,":[3],"only":[4,195],"trisomies":[5,121,222],"of":[6,64,93,122,139,141,147,149,168,190,202,230],"chromosome":[7,29,54,155,169],"21":[8,78,170,192,226],"(Down":[9],"syndrome),":[10],"18":[11,126,210],"(Edwards":[12],"syndrome)":[13,17],"and":[14,34,77,108,119,127,225],"13":[15],"(Patau":[16],"are":[18,38],"compatible":[19],"with":[20,115,120],"postnatal":[21],"survival.":[22],"But":[23],"the":[24,31,52,70,90,142,150,153,159,173,231],"mechanisms,":[25],"how":[26],"a":[27,55,116,131,137,228],"supernumerary":[28,154],"disrupts":[30],"normal":[32,117,164],"development":[33,82,180],"causes":[35],"specific":[36],"phenotypes,":[37],"still":[39],"not":[40],"fully":[41],"explained.":[42],"As":[43],"an":[44],"alternative":[45],"to":[46,51,68,85,133,158],"gene":[47,175],"dosage":[48],"effect":[49],"due":[50],"trisomic":[53,143],"genome-wide":[56],"transcriptional":[57,71,213],"dysregulation":[58],"has":[59],"been":[60],"postulated.":[61],"The":[62],"aim":[63],"this":[65],"study":[66],"was":[67,181],"define":[69],"changes":[72,197,214],"in":[73,83,104,163,177,184,208],"trisomy":[74,191,209],"13,":[75,125,223],"18,":[76,224],"during":[79],"early":[80],"fetal":[81,178],"order":[84],"obtain":[86],"more":[87],"insights":[88],"into":[89],"molecular":[91],"etiopathology":[92],"aneuploidy.":[94],"Using":[95],"oligonucleotide":[96],"microarrays,":[97],"we":[98],"analyzed":[99],"whole":[100],"genome":[101],"expression":[102],"profiles":[103],"cultured":[105],"amniocytes":[106],"(AC)":[107],"chorionic":[109],"villus":[110],"cells":[111],"(CV)":[112],"from":[113],"pregnancies":[114],"karyotype":[118],"human":[123],"chromosomes":[124],"21.":[128],"We":[129],"observed":[130],"low":[132],"moderate":[134],"up-regulation":[135],"for":[136,200,220],"subset":[138,167],"genes":[140,151,171,201],"chromosomes.":[144,205],"Transcriptional":[145],"levels":[146],"most":[148],"on":[152],"appeared":[156],"similar":[157],"respective":[160],"chromosomal":[161],"pair":[162],"karyotypes.":[165],"A":[166],"including":[172],"DSCR1":[174],"involved":[176],"heart":[179],"consistently":[182],"up-regulated":[183],"different":[185],"prenatal":[186],"tissues":[187],"(AC,":[188],"CV)":[189],"fetuses":[193],"whereas":[194],"minor":[196],"were":[198,215],"found":[199],"all":[203],"other":[204],"In":[206],"contrast,":[207],"vigorous":[211],"downstream":[212],"found.":[216],"Global":[217],"transcriptome":[218],"analysis":[219],"supported":[227],"combination":[229],"two":[232],"major":[233],"hypotheses.":[234]},"counts_by_year":[],"updated_date":"2026-10-08T09:06:37.294493","created_date":"2024-04-08T00:00:00"}