{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:12Z","timestamp":1772160072481,"version":"3.50.1"},"reference-count":13,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,1,14]],"date-time":"2023-01-14T00:00:00Z","timestamp":1673654400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["19K18745"],"award-info":[{"award-number":["19K18745"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Carotid body tumor (CBT) is classified as a paraganglioma (PGL). Here, we report the genetic background, protein expression pattern, and clinical findings of 30 Japanese CBT cases. Germline pathogenic or likely pathogenic (P\/LP) variants of genes encoding succinate dehydrogenase subunits (\n                    <jats:italic>SDHs<\/jats:italic>\n                    ) were detected in 15 of 30 cases (50%). The\n                    <jats:italic>SDHB<\/jats:italic>\n                    variants were the most frequently detected, followed by\n                    <jats:italic>SDHA<\/jats:italic>\n                    and\n                    <jats:italic>SDHD<\/jats:italic>\n                    variants. One case with\n                    <jats:italic>SDHAF2<\/jats:italic>\n                    variant was bilateral CBT, and other two multiple PGL cases were not detected P\/LP variants. The three cases with germline variants that could be tested did not have somatic P\/LP variants of the same genes. Immunohistochemical analysis showed negative SDHB signals in CBT tissues in five cases with germline P\/LP variants of\n                    <jats:italic>SDHB<\/jats:italic>\n                    ,\n                    <jats:italic>SDHD<\/jats:italic>\n                    , or\n                    <jats:italic>SDHA<\/jats:italic>\n                    . In addition, SDHB signals in CBT tissues were negative in four of nine cases without germline P\/LP variants of\n                    <jats:italic>SDHs<\/jats:italic>\n                    . These findings suggest the involvement of unidentified molecular mechanisms affecting\n                    <jats:italic>SDHs<\/jats:italic>\n                    .\n                  <\/jats:p>","DOI":"10.1111\/cge.14294","type":"journal-article","created":{"date-parts":[[2023,1,4]],"date-time":"2023-01-04T01:09:16Z","timestamp":1672794556000},"page":"466-471","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses"],"prefix":"10.1111","volume":"103","author":[{"given":"Keisuke","family":"Yoshihama","sequence":"first","affiliation":[{"name":"Department of Otolaryngology, Head and Neck Surgery Keio University School of Medicine  Tokyo Japan"},{"name":"Division of Hearing and Balance Research, National Institute of Sensory Organs National Hospital Organization Tokyo Medical Center  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hideki","family":"Mutai","sequence":"additional","affiliation":[{"name":"Division of Hearing and Balance Research, National Institute of Sensory Organs National Hospital Organization Tokyo Medical Center  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariko","family":"Sekimizu","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Head and Neck Surgery Keio University School of Medicine  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fumihiro","family":"Ito","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology National Hospital Organization Tokyo Medical Center  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shin","family":"Saito","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Head and Neck Surgery Keio University School of Medicine  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shintaro","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Head and Neck Surgery Keio University School of Medicine  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takuya","family":"Mikoshiba","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Head and Neck Surgery Keio University School of Medicine  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryoto","family":"Nagai","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Head and Neck Surgery Keio University School of Medicine  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akiko","family":"Takebayashi","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Head and Neck Surgery Keio University School of Medicine  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fuyuki","family":"Miya","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Keio University School of Medicine  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6798-8151","authenticated-orcid":false,"given":"Kenjiro","family":"Kosaki","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Keio University School of Medicine  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Ozawa","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Head and Neck Surgery Keio University School of Medicine  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9647-1496","authenticated-orcid":false,"given":"Tatsuo","family":"Matsunaga","sequence":"additional","affiliation":[{"name":"Division of Hearing and Balance Research, National Institute of Sensory Organs National Hospital Organization Tokyo Medical Center  Tokyo Japan"},{"name":"Department of Otolaryngology National Hospital Organization Tokyo Medical Center  Tokyo Japan"},{"name":"Medical Genetics Center National Hospital Organization Tokyo Medical Center  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,1,14]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.6061\/clinics\/2012(Sup01)05"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bts526"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2016.185"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cen.13877"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1210\/er.2014-1026"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/modpathol.2015.41"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.31557\/APJCP.2021.22.6.1721"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1207591"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.14649"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.otohns.2009.01.004"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr324"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12843"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.3390\/cancers11101505"}],"container-title":["Clinical 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