{"id":"https://openalex.org/W1874249595","doi":null,"title":"An Ehlers-Danlos syndrome type VIA patient with cystic malformations of the meninges.","display_name":"An Ehlers-Danlos syndrome type VIA patient with cystic malformations of the meninges.","publication_year":2005,"publication_date":"2005-09-01","ids":{"openalex":"https://openalex.org/W1874249595","mag":"1874249595","pmid":"https://pubmed.ncbi.nlm.nih.gov/16172044"},"language":"en","primary_location":{"id":"pmid:16172044","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/16172044","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":"European journal of dermatology : EJD","raw_type":"Case Reports"},"volume":null,"type":"article","is_traditional":true,"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/A5109957532","display_name":"Heather N. Yeowell","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I170897317","display_name":"Duke University","ror":"https://ror.org/00py81415","country_code":"US","type":"education","lineage":["https://openalex.org/I170897317"]},{"id":"https://openalex.org/I4210126298","display_name":"Duke Medical Center","ror":"https://ror.org/03njmea73","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210126298","https://openalex.org/I4210144876"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Heather N Yeowell","raw_affiliation_strings":["Div of Dermatology, Duke Univ Medical Centre, Durham, NC, USA. yeowe001@mc.duke.edu"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Div of Dermatology, Duke Univ Medical Centre, Durham, NC, USA. yeowe001@mc.duke.edu","institution_ids":["https://openalex.org/I170897317","https://openalex.org/I4210126298"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5104064941","display_name":"Linda C. Walker","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Linda C Walker","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5108474531","display_name":"Luitgard M. Neumann","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Luitgard M Neumann","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.1442,"has_fulltext":false,"cited_by_count":14,"citation_normalized_percentile":{"value":0.46355984,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"15","issue":"5","first_page":"353","last_page":"8"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research","score":0.98580002784729,"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":0.98580002784729,"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":0.002899999963119626,"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/T11650","display_name":"Skin and Cellular Biology Research","score":0.0012000000569969416,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell 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"}}],"keywords":[{"id":"https://openalex.org/keywords/homozygous-mutation","display_name":"homozygous mutation","score":0.7310000061988831},{"id":"https://openalex.org/keywords/homologous-recombination","display_name":"homologous recombination","score":0.7110000252723694},{"id":"https://openalex.org/keywords/alu-elements","display_name":"Alu elements","score":0.7749999761581421},{"id":"https://openalex.org/keywords/allele-frequency","display_name":"allele frequency","score":0.7820000052452087},{"id":"https://openalex.org/keywords/dermal-fibroblasts","display_name":"dermal fibroblasts","score":0.7549999952316284},{"id":"https://openalex.org/keywords/connective-tissue-diseases","display_name":"connective tissue diseases","score":0.6480000019073486}],"concepts":[{"id":"https://openalex.org/C7602840","wikidata":"https://www.wikidata.org/wiki/Q746284","display_name":"Gene duplication","level":3,"score":0.885191798210144},{"id":"https://openalex.org/C2778333328","wikidata":"https://www.wikidata.org/wiki/Q1141499","display_name":"Ehlers\u2013Danlos syndrome","level":2,"score":0.6598286628723145},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.6541649699211121},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.6393579244613647},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6249717473983765},{"id":"https://openalex.org/C17757408","wikidata":"https://www.wikidata.org/wiki/Q4135516","display_name":"genomic DNA","level":3,"score":0.5833593606948853},{"id":"https://openalex.org/C94671646","wikidata":"https://www.wikidata.org/wiki/Q207551","display_name":"Intron","level":3,"score":0.5807860493659973},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.5072957873344421},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.487073689699173},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.48385608196258545},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.483167827129364},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.32183852791786194},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.15110862255096436}],"mesh":[{"descriptor_ui":"D002478","descriptor_name":"Cells, Cultured","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":"D004535","descriptor_name":"Ehlers-Danlos Syndrome","qualifier_ui":"Q000145","qualifier_name":"classification","is_major_topic":false},{"descriptor_ui":"D004535","descriptor_name":"Ehlers-Danlos Syndrome","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D004535","descriptor_name":"Ehlers-Danlos Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004535","descriptor_name":"Ehlers-Danlos Syndrome","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","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":"D008240","descriptor_name":"Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false},{"descriptor_ui":"D008240","descriptor_name":"Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008578","descriptor_name":"Meninges","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","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":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020405","descriptor_name":"Dermis","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:16172044","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/16172044","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":"European journal of dermatology : EJD","raw_type":"Case Reports"},{"id":"mag:1874249595","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/16172044","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","display_name":"Good health and well-being","score":0.98580002784729}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W300580931","https://openalex.org/W2038922779","https://openalex.org/W2170210116","https://openalex.org/W2074318615","https://openalex.org/W2063087757","https://openalex.org/W2005062689","https://openalex.org/W4249312603","https://openalex.org/W433725254","https://openalex.org/W1511528523","https://openalex.org/W1986197085"],"abstract_inverted_index":{"We":[0],"have":[1,173],"characterized":[2],"a":[3,32,84,151,188],"patient":[4],"with":[5,145],"the":[6,19,26,39,47,69,103,118,135,140,163,175],"phenotype":[7],"of":[8,22,25,35,49,53,61,83,102,108,115,127,154,187,190],"Ehlers-Danlos":[9],"syndrome":[10],"type":[11],"VIA":[12,147,198],"(EDS":[13],"VIA:":[14],"kyphoscoliotic":[15],"form),":[16],"accompanied":[17],"by":[18,74,94,113],"unique":[20],"feature":[21],"cystic":[23],"malformations":[24],"meninges,":[27],"to":[28,124,200],"be":[29,125,201],"homozygous":[30],"for":[31,65,178],"large":[33,79],"duplication":[34,85,104,133],"8.9":[36],"kb":[37],"in":[38,56,91,139,143,157],"lysyl":[40],"hydroxylase":[41],"1":[42],"(LH1)":[43],"gene":[44,142],"that":[45],"is":[46,134],"cause":[48],"severely":[50],"decreased":[51],"levels":[52],"LH":[54],"activity":[55],"her":[57],"skin":[58],"fibroblasts.":[59],"Electrophoresis":[60],"full":[62],"length":[63],"cDNA":[64],"LH1,":[66],"prepared":[67],"from":[68,117,165,195],"patient's":[70],"fibroblasts":[71],"and":[72,99,148,160,168],"amplified":[73],"PCR,":[75],"showed":[76,122],"an":[77],"abnormally":[78],"DNA":[80,93,116],"fragment":[81],"indicative":[82],"mutation;":[86],"this":[87,109,128,166,179],"mutation":[88,110,138],"was":[89,111],"confirmed":[90,112],"genomic":[92],"PCR":[95],"using":[96],"duplication-specific":[97],"primers":[98],"sequence":[100],"analysis":[101,114],"junction.":[105],"The":[106],"homozygosity":[107],"unaffected":[119],"parents":[120],"which":[121],"them":[123],"carriers":[126],"duplication.":[129],"This":[130],"seven":[131],"exon":[132],"most":[136],"common":[137],"LH1":[141],"patients":[144],"EDS":[146,197],"occurs":[149],"via":[150],"homologous":[152],"recombination":[153],"Alu":[155],"sequences":[156],"introns":[158],"9":[159],"16.":[161],"Using":[162],"data":[164],"study":[167],"other":[169],"recent":[170],"reports,":[171],"we":[172],"updated":[174],"allele":[176],"frequency":[177],"mutation,":[180],"based":[181],"on":[182],"19":[183],"duplicated":[184],"alleles":[185,194],"out":[186],"total":[189],"104":[191],"genetically":[192],"independent":[193],"53":[196],"families,":[199],"18.3%.":[202]},"counts_by_year":[{"year":2022,"cited_by_count":1},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":3}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
