{"id":"https://openalex.org/W2406555690","doi":null,"title":"Correlation between mRNA expression level of the mutant COL4A5 gene and phenotypes of XLAS females.","display_name":"Correlation between mRNA expression level of the mutant COL4A5 gene and phenotypes of XLAS females.","publication_year":2007,"publication_date":"2007-05-01","ids":{"openalex":"https://openalex.org/W2406555690","mag":"2406555690","pmid":"https://pubmed.ncbi.nlm.nih.gov/17463160"},"language":"en","primary_location":{"id":"pmid:17463160","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/17463160","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":"Experimental biology and medicine (Maywood, N.J.)","raw_type":"Journal Article"},"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/A5100626589","display_name":"Yunfeng Wang","orcid":"https://orcid.org/0000-0001-8217-5776","observed_orcids":["https://orcid.org/0000-0001-8217-5776"]},"institutions":[{"id":"https://openalex.org/I4210130930","display_name":"Peking University First Hospital","ror":"https://ror.org/02z1vqm45","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210130930"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yunfeng Wang","raw_affiliation_strings":["Department of Pediatrics, Peking University First Hospital, Beijing, PR China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Peking University First Hospital, Beijing, PR China","institution_ids":["https://openalex.org/I4210130930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100670034","display_name":"Hongwen Zhang","orcid":"https://orcid.org/0000-0003-2735-6384","observed_orcids":["https://orcid.org/0000-0003-2735-6384"]},"institutions":[{"id":"https://openalex.org/I4210130930","display_name":"Peking University First Hospital","ror":"https://ror.org/02z1vqm45","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210130930"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Hongwen Zhang","raw_affiliation_strings":["Department of Pediatrics, Peking University First Hospital, Beijing, China;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Peking University First Hospital, Beijing, China;","institution_ids":["https://openalex.org/I4210130930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100625885","display_name":"Jie Ding","orcid":"https://orcid.org/0000-0001-9162-7850","observed_orcids":["https://orcid.org/0000-0001-9162-7850"]},"institutions":[{"id":"https://openalex.org/I4210130930","display_name":"Peking University First Hospital","ror":"https://ror.org/02z1vqm45","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210130930"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Jie Ding","raw_affiliation_strings":["Department of Pediatrics, Peking University First Hospital, Beijing, China;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Peking University First Hospital, Beijing, China;","institution_ids":["https://openalex.org/I4210130930"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5115602070","display_name":"Fang Wang","orcid":"https://orcid.org/0000-0002-8808-8531","observed_orcids":["https://orcid.org/0000-0002-8808-8531"]},"institutions":[{"id":"https://openalex.org/I4210130930","display_name":"Peking University First Hospital","ror":"https://ror.org/02z1vqm45","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210130930"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Fang Wang","raw_affiliation_strings":["Department of Pediatrics, Peking University First Hospital, Beijing, China;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Peking University First Hospital, Beijing, China;","institution_ids":["https://openalex.org/I4210130930"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I4210130930"],"apc_list":null,"apc_paid":null,"fwci":0.9536,"has_fulltext":false,"cited_by_count":13,"citation_normalized_percentile":{"value":0.77136839,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":97},"biblio":{"volume":"232","issue":"5","first_page":"638","last_page":"42"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11029","display_name":"Renal Diseases and Glomerulopathies","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2727","display_name":"Nephrology"},"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/T11029","display_name":"Renal Diseases and Glomerulopathies","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2727","display_name":"Nephrology"},"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/T11412","display_name":"Genetic and Kidney Cyst 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/T10993","display_name":"Complement system in diseases","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/x-linked-alport-syndrome","display_name":"X-linked Alport syndrome","score":0.9990000128746033},{"id":"https://openalex.org/keywords/col4a5-gene","display_name":"COL4A5 gene","score":0.9079999923706055},{"id":"https://openalex.org/keywords/phenotypic-variation","display_name":"phenotypic variability","score":0.5879999995231628},{"id":"https://openalex.org/keywords/proteinuria","display_name":"proteinuria","score":0.6769999861717224},{"id":"https://openalex.org/keywords/hematuria","display_name":"hematuria","score":0.9139999747276306},{"id":"https://openalex.org/keywords/x-chromosome-inactivation","display_name":"X chromosome inactivation","score":0.8180000185966492},{"id":"https://openalex.org/keywords/skewed-x-inactivation","display_name":"X-inactivation skewing","score":0.671999990940094},{"id":"https://openalex.org/keywords/fibroblasts","display_name":"fibroblasts","score":0.7710000276565552},{"id":"https://openalex.org/keywords/glomerulonephritis","display_name":"glomerulonephritis","score":0.7749999761581421},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.7950000166893005}],"concepts":[{"id":"https://openalex.org/C2776908417","wikidata":"https://www.wikidata.org/wiki/Q1331116","display_name":"Alport syndrome","level":4,"score":0.8541072607040405},{"id":"https://openalex.org/C2910809950","wikidata":"https://www.wikidata.org/wiki/Q1534492","display_name":"Microhematuria","level":4,"score":0.6302394270896912},{"id":"https://openalex.org/C2779561371","wikidata":"https://www.wikidata.org/wiki/Q570197","display_name":"Proteinuria","level":3,"score":0.6205751299858093},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.6085270643234253},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.5974679589271545},{"id":"https://openalex.org/C105580179","wikidata":"https://www.wikidata.org/wiki/Q188928","display_name":"Messenger RNA","level":3,"score":0.5964223146438599},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.5231376886367798},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5180307030677795},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4960421025753021},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.4499437212944031},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.4222724437713623},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.4137704372406006},{"id":"https://openalex.org/C2780368995","wikidata":"https://www.wikidata.org/wiki/Q605006","display_name":"Glomerulonephritis","level":3,"score":0.399076372385025},{"id":"https://openalex.org/C2780091579","wikidata":"https://www.wikidata.org/wiki/Q9377","display_name":"Kidney","level":2,"score":0.3450561463832855},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.27122512459754944},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.1600828468799591}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002478","descriptor_name":"Cells, Cultured","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004591","descriptor_name":"Electrophoresis, Polyacrylamide Gel","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":"D005347","descriptor_name":"Fibroblasts","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005347","descriptor_name":"Fibroblasts","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D006417","descriptor_name":"Hematuria","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","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":"D009394","descriptor_name":"Nephritis, Hereditary","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009394","descriptor_name":"Nephritis, Hereditary","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D009394","descriptor_name":"Nephritis, Hereditary","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012333","descriptor_name":"RNA, Messenger","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012333","descriptor_name":"RNA, Messenger","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D015870","descriptor_name":"Gene Expression","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020133","descriptor_name":"Reverse Transcriptase Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D024141","descriptor_name":"Collagen Type IV","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D024141","descriptor_name":"Collagen Type IV","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D049951","descriptor_name":"X Chromosome Inactivation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:17463160","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/17463160","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":"Experimental biology and medicine (Maywood, N.J.)","raw_type":"Journal Article"},{"id":"mag:2406555690","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/17463160","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":[{"display_name":"Good health and well-being","score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":21,"referenced_works":["https://openalex.org/W8691369","https://openalex.org/W47648998","https://openalex.org/W113984154","https://openalex.org/W1515810516","https://openalex.org/W1537352455","https://openalex.org/W1967163444","https://openalex.org/W1971630778","https://openalex.org/W1986043266","https://openalex.org/W1993970101","https://openalex.org/W2010569391","https://openalex.org/W2023467804","https://openalex.org/W2031514024","https://openalex.org/W2035488976","https://openalex.org/W2043239834","https://openalex.org/W2071200299","https://openalex.org/W2103188558","https://openalex.org/W2127923616","https://openalex.org/W2133409560","https://openalex.org/W2136492640","https://openalex.org/W2159985349","https://openalex.org/W2162467840"],"related_works":["https://openalex.org/W3151628508","https://openalex.org/W2392548303","https://openalex.org/W2542342699","https://openalex.org/W4306929532","https://openalex.org/W2348490521","https://openalex.org/W4377967837","https://openalex.org/W3108205625","https://openalex.org/W2353213602","https://openalex.org/W1996702110","https://openalex.org/W2123450769"],"abstract_inverted_index":{"Alport":[0,22],"syndrome":[1,23],"(AS)":[2],"is":[3],"a":[4],"progressive":[5,11],"hereditary":[6],"glomerulonephritis":[7],"presented":[8],"with":[9,20,84,117,132,255,261],"hematuria,":[10],"renal":[12,32],"failure,":[13],"sensorineural":[14],"deafness,":[15],"and":[16,66,86,189,194,199,220,263],"ocular":[17],"lesions.":[18],"Females":[19],"X-linked":[21],"(XLAS)":[24],"have":[25],"variable":[26],"phenotypes,":[27],"from":[28,77],"asymptomatic":[29],"hematuria":[30],"to":[31,36,100],"failure.":[33],"In":[34],"order":[35],"understand":[37],"the":[38,53,59,67,102,105,109,126,133,159,165,173,195,212,242,249,256],"possible":[39],"mechanism":[40],"of":[41,52,70,90,108,125,136,151,158,164,180,192,202,211,231,244,248,259],"different":[42],"phenotypes":[43],"in":[44,57,62,81,172,272],"female":[45],"XLAS,":[46,262],"we":[47],"analyzed":[48,131],"mRNA":[49,208,245],"expression":[50,123,209,246],"level":[51,124,210,247],"mutant":[54,127,213,250],"COL4A5":[55,91,110,128,214,251],"gene":[56,129,215,252],"fibroblasts,":[58],"X-inactivation":[60,144,270],"pattern":[61,271],"peripheral":[63,152,273],"blood":[64,153,274],"DNA,":[65],"phenotype":[68],"variability":[69],"XLAS":[71,85],"females.":[72],"Total":[73],"RNA":[74,122],"was":[75,98,130,146,216,253],"isolated":[76],"cultured":[78],"skin":[79],"fibroblasts":[80],"five":[82],"females":[83,260],"confirmed":[87],"deletion":[88],"mutations":[89],"mRNA.":[92],"Reverse":[93],"transcription-polymerase":[94],"chain":[95],"reaction":[96],"(PCR)":[97],"performed":[99,147],"amplify":[101],"fragment,":[103],"including":[104],"mutation":[106],"sequences":[107],"gene.":[111,169],"The":[112,143,205],"PCR":[113,137,157],"products":[114],"were":[115],"electrophoresed":[116],"8%":[118],"polyacrylamide":[119,141],"gel.":[120,142],"Messenger":[121],"optical":[134],"density":[135],"product":[138],"revealed":[139],"under":[140],"analysis":[145],"using":[148],"HpaII":[149],"predigestion":[150],"DNA":[154],"followed":[155],"by":[156,269],"highly":[160],"polymorphic":[161],"CAG":[162],"repeat":[163],"androgen":[166],"receptor":[167],"(AR)":[168],"All":[170],"patients":[171,206],"study":[174],"had":[175,182,187,197,218,233],"persistent":[176,188,219],"microscopic":[177],"hematuria.":[178,184],"Two":[179],"them":[181,232],"gross":[183],"Three":[185],"cases":[186],"severe":[190,222],"proteinuria":[191,201,223],"2+~3+,":[193],"others":[196],"discontinuous":[198],"milder":[200],"-":[203],"~+.":[204],"whose":[207],"higher":[217],"more":[221],"(r":[224],"=":[225,228],"0.975,":[226],"P":[227],"0.005).":[229],"None":[230],"skewed":[234],"X":[235],"inactivation.":[236],"Our":[237],"preliminary":[238],"results":[239],"demonstrate":[240],"that":[241],"quantity":[243],"correlated":[254],"phenotypic":[257],"severity":[258],"this":[264],"could":[265],"not":[266],"be":[267],"explained":[268],"leukocytes.":[275]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2012,"cited_by_count":3}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
