{"id":"https://openalex.org/W4391925368","doi":"https://doi.org/10.1007/s10528-024-10689-6","title":"Genes and Pathways Underpinning Klinefelter Syndrome at Bulk and Single-Cell Levels","display_name":"Genes and Pathways Underpinning Klinefelter Syndrome at Bulk and Single-Cell Levels","publication_year":2024,"publication_date":"2024-02-19","ids":{"openalex":"https://openalex.org/W4391925368","doi":"https://doi.org/10.1007/s10528-024-10689-6","pmid":"https://pubmed.ncbi.nlm.nih.gov/38374521"},"language":"en","primary_location":{"id":"doi:10.1007/s10528-024-10689-6","doi":"https://doi.org/10.1007/s10528-024-10689-6","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s10528-024-10689-6","pdf_url":null,"source":{"id":"https://openalex.org/S8388595","display_name":"Biochemical Genetics","issn_l":"0006-2928","issn":["0006-2928","1573-4927"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","jufo-1","medline","norway-1","poland-40","russia-white-list-3"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Biochemical Genetics","raw_type":"journal-article"},"parent_works":[],"lineage":["https://openalex.org/W4391925368"],"child_works_count":0,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.researchsquare.com/article/rs-3285636/latest.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5103832651","display_name":"Linlin Tian","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210124376","display_name":"Nanjing Municipal Center for Disease Control And Prevention","ror":"https://ror.org/03gdvgj95","country_code":"CN","type":"government","lineage":["https://openalex.org/I4210124376"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Linlin Tian","raw_affiliation_strings":["Nanjing Municipal Center for Disease Control and Prevention, Nanjing, 210003, Jiangsu, People's Republic of China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Nanjing Municipal Center for Disease Control and Prevention, Nanjing, 210003, Jiangsu, People's Republic of China","institution_ids":["https://openalex.org/I4210124376"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103426906","display_name":"Yan Ping Yu","orcid":"https://orcid.org/0000-0002-5210-3971","observed_orcids":["https://orcid.org/0000-0002-5210-3971"]},"institutions":[{"id":"https://openalex.org/I4210124376","display_name":"Nanjing Municipal Center for Disease Control And Prevention","ror":"https://ror.org/03gdvgj95","country_code":"CN","type":"government","lineage":["https://openalex.org/I4210124376"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yan Yu","raw_affiliation_strings":["Nanjing Municipal Center for Disease Control and Prevention, Nanjing, 210003, Jiangsu, People's Republic of China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Nanjing Municipal Center for Disease Control and Prevention, Nanjing, 210003, Jiangsu, People's Republic of China","institution_ids":["https://openalex.org/I4210124376"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109399166","display_name":"Ziqing Mao","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210124376","display_name":"Nanjing Municipal Center for Disease Control And Prevention","ror":"https://ror.org/03gdvgj95","country_code":"CN","type":"government","lineage":["https://openalex.org/I4210124376"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Ziqing Mao","raw_affiliation_strings":["Nanjing Municipal Center for Disease Control and Prevention, Nanjing, 210003, Jiangsu, People's Republic of China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Nanjing Municipal Center for Disease Control and Prevention, Nanjing, 210003, Jiangsu, People's Republic of China","institution_ids":["https://openalex.org/I4210124376"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100511231","display_name":"Dandan Xu","orcid":"https://orcid.org/0000-0003-1540-5767","observed_orcids":["https://orcid.org/0000-0003-1540-5767"]},"institutions":[{"id":"https://openalex.org/I4210124376","display_name":"Nanjing Municipal Center for Disease Control And Prevention","ror":"https://ror.org/03gdvgj95","country_code":"CN","type":"government","lineage":["https://openalex.org/I4210124376"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Dandan Xu","raw_affiliation_strings":["Nanjing Municipal Center for Disease Control and Prevention, Nanjing, 210003, Jiangsu, People's Republic of China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Nanjing Municipal Center for Disease Control and Prevention, Nanjing, 210003, Jiangsu, People's Republic of China","institution_ids":["https://openalex.org/I4210124376"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100461088","display_name":"Hongbo Zhang","orcid":"https://orcid.org/0000-0002-1071-4416","observed_orcids":["https://orcid.org/0000-0002-1071-4416","https://orcid.org/0009-0005-9320-6829","https://orcid.org/0009-0008-4735-0872"]},"institutions":[{"id":"https://openalex.org/I4210124376","display_name":"Nanjing Municipal Center for Disease Control And Prevention","ror":"https://ror.org/03gdvgj95","country_code":"CN","type":"government","lineage":["https://openalex.org/I4210124376"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Hongbo Zhang","raw_affiliation_strings":["Nanjing Municipal Center for Disease Control and Prevention, Nanjing, 210003, Jiangsu, People's Republic of China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Nanjing Municipal Center for Disease Control and Prevention, Nanjing, 210003, Jiangsu, People's Republic of China","institution_ids":["https://openalex.org/I4210124376"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025513415","display_name":"Mengkai Qiao","orcid":"https://orcid.org/0000-0002-6006-5813","observed_orcids":["https://orcid.org/0000-0002-6006-5813"]},"institutions":[{"id":"https://openalex.org/I4210124376","display_name":"Nanjing Municipal Center for Disease Control And Prevention","ror":"https://ror.org/03gdvgj95","country_code":"CN","type":"government","lineage":["https://openalex.org/I4210124376"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Mengkai Qiao","raw_affiliation_strings":["Nanjing Municipal Center for Disease Control and Prevention, Nanjing, 210003, Jiangsu, People's Republic of China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Nanjing Municipal Center for Disease Control and Prevention, Nanjing, 210003, Jiangsu, People's Republic of China","institution_ids":["https://openalex.org/I4210124376"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029419422","display_name":"Tong Chen","orcid":"https://orcid.org/0000-0001-6786-0310","observed_orcids":["https://orcid.org/0000-0001-6786-0310"]},"institutions":[{"id":"https://openalex.org/I4210152119","display_name":"Jiangsu Province Hospital","ror":"https://ror.org/04py1g812","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210152119"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Tong Chen","raw_affiliation_strings":["Department of Urology, The First Affiliated Hospital of Nanjing Medical University, 300 Guangzhou Road, Nanjing, 210029, People's Republic of China. doctor_chentong@163.com","Department of Urology, The First Affiliated Hospital of Nanjing Medical University, 300 Guangzhou Road, Nanjing, 210029, People's Republic of China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Urology, The First Affiliated Hospital of Nanjing Medical University, 300 Guangzhou Road, Nanjing, 210029, People's Republic of China. doctor_chentong@163.com","institution_ids":["https://openalex.org/I4210152119"]},{"raw_affiliation_string":"Department of Urology, The First Affiliated Hospital of Nanjing Medical University, 300 Guangzhou Road, Nanjing, 210029, People's Republic of China","institution_ids":["https://openalex.org/I4210152119"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5100626856","display_name":"Wen Liu","orcid":"https://orcid.org/0000-0002-1107-131X","observed_orcids":["https://orcid.org/0000-0002-1107-131X"]},"institutions":[{"id":"https://openalex.org/I154099455","display_name":"Shandong University","ror":"https://ror.org/0207yh398","country_code":"CN","type":"education","lineage":["https://openalex.org/I154099455"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Wen Liu","raw_affiliation_strings":["Center for Reproductive Medicine, Cheeloo College of Medicine, Shandong University, Jinan, 250001, Shandong, China. liuwen0905@126.com","Key Laboratory of Reproductive Endocrinology of Ministry of Education, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Shandong Key Laboratory of Reproductive Medicine, Shandong Provincial Clinical Research Center for Reproductive Health, Jinan, China. liuwen0905@126.com","Center for Reproductive Medicine, Cheeloo College of Medicine, Shandong University, Jinan, 250001, Shandong, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Reproductive Medicine, Cheeloo College of Medicine, Shandong University, Jinan, 250001, Shandong, China. liuwen0905@126.com","institution_ids":["https://openalex.org/I154099455"]},{"raw_affiliation_string":"Key Laboratory of Reproductive Endocrinology of Ministry of Education, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Shandong Key Laboratory of Reproductive Medicine, Shandong Provincial Clinical Research Center for Reproductive Health, Jinan, China. liuwen0905@126.com","institution_ids":[]},{"raw_affiliation_string":"Center for Reproductive Medicine, Cheeloo College of Medicine, Shandong University, Jinan, 250001, Shandong, China","institution_ids":["https://openalex.org/I154099455"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5029419422","https://openalex.org/A5100626856"],"corresponding_institution_ids":["https://openalex.org/I154099455","https://openalex.org/I4210152119"],"apc_list":{"value":3890,"currency":"USD","value_usd":3890},"apc_paid":null,"fwci":0.3931,"has_fulltext":false,"cited_by_count":2,"citation_normalized_percentile":{"value":0.4888895,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":95},"biblio":{"volume":"62","issue":"6","first_page":"4851","last_page":"4866"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11077","display_name":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","score":0.9096999764442444,"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/T11077","display_name":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","score":0.9096999764442444,"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/T10116","display_name":"Sperm and Testicular Function","score":0.04280000180006027,"subfield":{"id":"https://openalex.org/subfields/2743","display_name":"Reproductive 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/T11956","display_name":"Sexual Differentiation and Disorders","score":0.029999999329447746,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/klinefelter-syndrome","display_name":"Klinefelter syndrome","score":1.0},{"id":"https://openalex.org/keywords/male-infertility","display_name":"male infertility","score":0.7070000171661377},{"id":"https://openalex.org/keywords/peripheral-blood-mononuclear-cells","display_name":"peripheral blood mononuclear cells","score":0.9089999794960022},{"id":"https://openalex.org/keywords/hub-genes","display_name":"hub genes","score":0.9520000219345093},{"id":"https://openalex.org/keywords/xg","display_name":"xG","score":0.6869999766349792},{"id":"https://openalex.org/keywords/intelectin-1","display_name":"intelectin-1","score":0.9990000128746033},{"id":"https://openalex.org/keywords/bpi","display_name":"BPI","score":0.968999981880188},{"id":"https://openalex.org/keywords/myeloperoxidase","display_name":"myeloperoxidase","score":0.9879999756813049},{"id":"https://openalex.org/keywords/immune-infiltration","display_name":"immune cell infiltration","score":0.9210000038146973},{"id":"https://openalex.org/keywords/cd56bright-nk-cells","display_name":"CD56bright NK cells","score":0.9800000190734863},{"id":"https://openalex.org/keywords/pi3k-akt-signaling","display_name":"PI3K/Akt signaling","score":0.9399999976158142},{"id":"https://openalex.org/keywords/neuroactive-ligand-receptor-interaction","display_name":"neuroactive ligand-receptor interaction","score":0.9850000143051147},{"id":"https://openalex.org/keywords/g2-m-checkpoint","display_name":"G2/M checkpoint","score":0.9160000085830688},{"id":"https://openalex.org/keywords/mitotic-spindle","display_name":"mitotic spindle","score":0.9340000152587891},{"id":"https://openalex.org/keywords/heme-metabolism","display_name":"heme metabolism","score":1.0},{"id":"https://openalex.org/keywords/intercellular-communication","display_name":"intercellular communication","score":0.8999999761581421},{"id":"https://openalex.org/keywords/macrophages","display_name":"macrophages","score":0.8659999966621399},{"id":"https://openalex.org/keywords/dendritic-cells","display_name":"dendritic cells","score":0.8529999852180481},{"id":"https://openalex.org/keywords/single-cell-transcriptomics","display_name":"single-cell transcriptomics","score":0.6439999938011169}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8402258157730103},{"id":"https://openalex.org/C152724338","wikidata":"https://www.wikidata.org/wiki/Q909442","display_name":"KEGG","level":5,"score":0.5719718337059021},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4918194115161896},{"id":"https://openalex.org/C127561419","wikidata":"https://www.wikidata.org/wiki/Q224527","display_name":"Downregulation and upregulation","level":3,"score":0.46485650539398193},{"id":"https://openalex.org/C162317418","wikidata":"https://www.wikidata.org/wiki/Q252857","display_name":"Transcriptome","level":4,"score":0.4628300964832306},{"id":"https://openalex.org/C8891405","wikidata":"https://www.wikidata.org/wiki/Q1059","display_name":"Immune system","level":2,"score":0.44943276047706604},{"id":"https://openalex.org/C136449434","wikidata":"https://www.wikidata.org/wiki/Q428253","display_name":"Innate immune system","level":3,"score":0.43581101298332214},{"id":"https://openalex.org/C1491633281","wikidata":"https://www.wikidata.org/wiki/Q7868","display_name":"Cell","level":2,"score":0.4338090717792511},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.4274863600730896},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4257504940032959},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.37493908405303955},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.3520079553127289}],"mesh":[{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007713","descriptor_name":"Klinefelter Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015398","descriptor_name":"Signal Transduction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020869","descriptor_name":"Gene Expression Profiling","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059010","descriptor_name":"Single-Cell Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D059467","descriptor_name":"Transcriptome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1007/s10528-024-10689-6","doi":"https://doi.org/10.1007/s10528-024-10689-6","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s10528-024-10689-6","pdf_url":null,"source":{"id":"https://openalex.org/S8388595","display_name":"Biochemical Genetics","issn_l":"0006-2928","issn":["0006-2928","1573-4927"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","jufo-1","medline","norway-1","poland-40","russia-white-list-3"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Biochemical Genetics","raw_type":"journal-article"},{"id":"doi:10.21203/rs.3.rs-3285636/v1","doi":"https://doi.org/10.21203/rs.3.rs-3285636/v1","is_oa":true,"landing_page_url":"http://dx.doi.org/10.21203/rs.3.rs-3285636/v1","pdf_url":"https://www.researchsquare.com/article/rs-3285636/latest.pdf","source":{"id":"https://openalex.org/S4306525896","display_name":"Research Square","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"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":"Research Square","raw_type":"posted-content"},{"id":"pmid:38374521","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/38374521","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":"Biochemical genetics","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.21203/rs.3.rs-3285636/v1","doi":"https://doi.org/10.21203/rs.3.rs-3285636/v1","is_oa":true,"landing_page_url":"http://dx.doi.org/10.21203/rs.3.rs-3285636/v1","pdf_url":"https://www.researchsquare.com/article/rs-3285636/latest.pdf","source":{"id":"https://openalex.org/S4306525896","display_name":"Research Square","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"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":"Research Square","raw_type":"posted-content"},"sustainable_development_goals":[{"score":0.9763000011444092,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320328746","display_name":"Guilin Medical University","ror":"https://ror.org/000prga03"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4391925368.pdf","grobid_xml":"https://content.openalex.org/works/W4391925368.grobid-xml"},"referenced_works_count":63,"referenced_works":["https://openalex.org/W2230937","https://openalex.org/W95153555","https://openalex.org/W137221544","https://openalex.org/W1984643489","https://openalex.org/W1985398262","https://openalex.org/W1995735647","https://openalex.org/W2009945017","https://openalex.org/W2014767959","https://openalex.org/W2022161361","https://openalex.org/W2033340644","https://openalex.org/W2035355667","https://openalex.org/W2035618305","https://openalex.org/W2047777772","https://openalex.org/W2062175236","https://openalex.org/W2068349294","https://openalex.org/W2077833546","https://openalex.org/W2099356583","https://openalex.org/W2102918897","https://openalex.org/W2121438719","https://openalex.org/W2128749356","https://openalex.org/W2130380198","https://openalex.org/W2142025489","https://openalex.org/W2146512944","https://openalex.org/W2152221103","https://openalex.org/W2152594753","https://openalex.org/W2159629011","https://openalex.org/W2159707944","https://openalex.org/W2167608748","https://openalex.org/W2169353806","https://openalex.org/W2173676725","https://openalex.org/W2259867514","https://openalex.org/W2334366559","https://openalex.org/W2462468519","https://openalex.org/W2472523518","https://openalex.org/W2522229769","https://openalex.org/W2565153498","https://openalex.org/W2588276914","https://openalex.org/W2593092113","https://openalex.org/W2786790541","https://openalex.org/W2786926491","https://openalex.org/W2945781043","https://openalex.org/W2949177718","https://openalex.org/W2971883901","https://openalex.org/W2980778337","https://openalex.org/W2980883626","https://openalex.org/W2989660941","https://openalex.org/W2996775079","https://openalex.org/W2997417231","https://openalex.org/W3042155995","https://openalex.org/W3091839106","https://openalex.org/W3102016493","https://openalex.org/W3132661792","https://openalex.org/W3147601650","https://openalex.org/W3160403315","https://openalex.org/W3160597959","https://openalex.org/W3174770650","https://openalex.org/W4200405771","https://openalex.org/W4205522604","https://openalex.org/W4221110028","https://openalex.org/W4281629389","https://openalex.org/W4294770726","https://openalex.org/W4311361713","https://openalex.org/W4323535518"],"related_works":["https://openalex.org/W2980778337","https://openalex.org/W4281629389","https://openalex.org/W3202762972","https://openalex.org/W2891852082","https://openalex.org/W4388110912","https://openalex.org/W1605547585","https://openalex.org/W3026649411","https://openalex.org/W2770089666","https://openalex.org/W7164016265"],"abstract_inverted_index":{"Abstract":[0],"Klinefelter":[1],"syndrome":[2],"(KS)":[3],"is":[4],"the":[5,15,56,104,138,216,240],"most":[6],"frequent":[7],"genetic":[8],"anomaly":[9],"in":[10,19],"infertile":[11],"males.":[12],"Despite":[13],"this,":[14],"molecular":[16],"mechanisms":[17,241],"involved":[18],"KS":[20,42,66,99],"are":[21],"poorly":[22],"defined.":[23],"Based":[24],"on":[25],"bulk":[26],"transcriptome":[27],"and":[28,41,52,65,78,80,86,142,149,156,182,202,230],"single-cell":[29],"RNA":[30],"sequencing":[31],"datasets":[32],"with":[33,55,100,137,170,215],"peripheral":[34],"blood":[35],"monocyte":[36],"(PBMC)":[37],"sample(s)":[38],"from":[39],"healthy":[40],"men,":[43],"this":[44],"study":[45],"was":[46,131,191,206],"designed":[47],"to":[48,133,193],"address":[49],"critical":[50],"genes":[51,76,83,92],"pathways":[53,162],"correlated":[54],"occurrence":[57],"of":[58,114,122,140,147,177,242],"KS.":[59,164,186,243],"Through":[60,144],"a":[61,203],"comparison":[62],"between":[63,197],"control":[64],"samples,":[67],"we":[68,152,221],"obtained":[69],"5":[70],"hub":[71,223],"genes,":[72,224],"including":[73],"two":[74],"upregulated":[75,161],"(XG":[77],"ITLN1)":[79],"three":[81],"downregulated":[82],"(DEFA4,":[84],"BPI":[85],"MPO).":[87],"Without":[88],"exception,":[89],"these":[90],"five":[91],"yielded":[93],"an":[94,101],"excellent":[95],"discriminatory":[96],"capacity":[97],"for":[98,163,185,208,234],"area":[102],"under":[103],"receiver-operator-characteristic":[105],"curve":[106],"over":[107],"0.75.":[108],"We":[109],"also":[110],"assessed":[111],"between-group":[112],"differences":[113],"immune":[115,124,199,226],"cell":[116,130,200,218,227],"infiltration":[117,228],"using":[118],"ssGSEA.":[119],"Infiltrated":[120],"degree":[121],"some":[123],"cells":[125,211,214],"such":[126],"as":[127,160],"CD56bright":[128],"NK":[129,213],"found":[132],"be":[134],"positively":[135],"associated":[136],"expression":[139],"ITLN1":[141],"XG.":[143],"Kyoto":[145],"Encyclopedia":[146],"Genes":[148],"Genomes":[150],"enrichment,":[151],"identified":[153],"PI3K/AKT":[154],"pathway":[155],"neuroactive":[157],"ligand-receptor":[158],"interaction":[159],"Gene":[165],"set":[166,172],"enrichment":[167],"analysis":[168,174,190],"together":[169],"gene":[171],"variation":[173],"confirmed":[175],"upregulation":[176],"G2M":[178],"checkpoint,":[179],"mitotic":[180],"spindle,":[181],"heme":[183],"metabolism":[184],"Furthermore,":[187],"scRNA-seq":[188],"data":[189],"conducted":[192],"detect":[194],"intercellular":[195],"communication":[196,232],"different":[198],"types,":[201],"strong":[204],"correlation":[205],"detected":[207],"macrophages,":[209],"dendritic":[210],"or":[212],"other":[217],"types.":[219],"Collectively,":[220],"provided":[222],"pathways,":[225],"degree,":[229],"cell-cell":[231],"interactions":[233],"KS,":[235],"warranting":[236],"novel":[237],"insights":[238],"into":[239]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1}],"updated_date":"2026-11-14T11:04:58.165337","created_date":"2024-02-20T00:00:00"}