Search Results 1-18 of 18

  • Genetic testing of pheochromocytoma/ paraganglioma (PPGL)  [in Japanese]

    竹越 一博

    内分泌・糖尿病・代謝内科 = Endocrinology, diabetology & metabolism 47(6), 505-511, 2018-12

  • A Novel <i>SDHB </i>IVS2-2A>C Mutation Is Responsible for Hereditary Pheochromocytoma/Paraganglioma Syndrome

    Yamanaka Mie , Kimura Noriko , Horii Akira , Shiga Kiyoto , Fujiwara Sho , Mizuguchi Yasuhiko , Yasuda Sari , Ishizawa Kota , Saiki Yuriko , Higashi Kenjiro , Ogawa Takenori

    Hereditary cases afflicted by both or either pheochromocytomas and paragangliomas have been reported: these are called hereditary pheochromocytoma/paraganglioma syndromes (HPPS). …

    The Tohoku Journal of Experimental Medicine 245(2), 99-105, 2018

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  • Genetic backgrond of Pheochromocytomas/Paragangliomas  [in Japanese]

    Takekoshi Kazuhiro

    Pheochromocytoma/paragangliomaは40%と遺伝性の頻度が極めて高く,かつ15種類の原因遺伝子が同定されている。 …

    Official Journal of the Japan Association of Endocrine Surgeons and the Japanese Society of Thyroid Surgery 32(3), 189-195, 2015

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  • Hereditary pheochromocytoma/paraganglioma syndrome : HPPS  [in Japanese]

    竹越 一博

    臨床泌尿器科 = Japanese journal of clinical urology 68(8), 554-560, 2014-07

    Ichushi Web 

  • Hereditary pheochromocytoma/paraganglioma syndrome : HPPS  [in Japanese]

    竹越 一博

    内分泌・糖尿病・代謝内科 37(4), 404-412, 2013-10

    Ichushi Web 

  • Juvenile-onset Hereditary Pheochromocytoma-paraganglioma Syndrome

    Sugisawa Chiho , Okada Yosuke , Arao Tadashi , Mori Hiroko , Nishida Keiko , Isobe Kazumasa , Takekoshi Kazuhiro , Tanaka Yoshiya

    … It is insufficient to distinguish benign tumors from malignant pheochromocytoma using histological analyses of resected tissue alone. … The patient was diagnosed with an aggressive form of hereditary pheochromocytoma-paraganglioma syndrome (HPPS) based on immunohistochemical analyses and genetic testing. …

    Internal Medicine 52(2), 281-284, 2013

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  • SURGERY OF THE ADRENAL GLAND  [in Japanese]

    IMAI Tsuneo

    Journal of Japan Surgical Society 113(6), 496-501, 2012-11-01

    Ichushi Web  References (16)

  • Hereditary pheochromocytoma/paraganglioma syndrome(HPPS)  [in Japanese]

    竹越 一博 , 川上 康

    日本内分泌・甲状腺外科学会雑誌 = Official journal of the Japan Association of Endocrine Surgeons and the Japanese Society of Thyroid Surgery 29(2), 104-112, 2012-06

    Ichushi Web  Cited by (1)

  • Malignant Pheochromocytoma and Multiple Endocrine Neoplasia (MEN), emphasizing importance of Genetic Testing  [in Japanese]

    TAKEKOSHI Kazuhiro , KAWAKAMI Yasushi

    … ;SDHB</i>)が発見された3点に集約される.遺伝的な原因で引き起こされる褐色細胞腫・パラガングリオーマを遺伝性褐色細胞腫・パラガングリオーマ症候群(Hereditary pheochromocytoma/paraganglioma syndrome:HPPS)と呼ぶことがある.本稿では,その重要性に鑑みて悪性になりやすい<i>SDHB</i>変異による「HPPS」に重点を置いて紹介する.多発性内分泌腺腫症 …

    Nihon Naika Gakkai Zasshi 101(4), 949-958, 2012-04-10

    J-STAGE  Ichushi Web  References (37) Cited by (1)

  • Hereditary pheochromocytoma/ paraganglioma syndrome(HPPS)  [in Japanese]

    Takekoshi Kazuhiro , Kawakami Yasushi

    … これら遺伝的な原因で引き起こされる褐色細胞腫・パラガングリオーマを遺伝性褐色細胞腫・パラガングリオーマ症候群(Hereditary pheochromocytoma/ paraganglioma syndrome(「HPPS」))と呼ぶことがある。 …

    Official Journal of the Japan Association of Endocrine Surgeons and the Japanese Society of Thyroid Surgery 29(2), 104-112, 2012

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  • A Large Deletion in the Succinate Dehydrogenase B Gene (SDHB) in a Japanese Patient with Abdominal Paraganglioma and Concomitant Metastasis

    KODAMA HITOMI , IIHARA MASATOSHI , NISSATO SUMIKO , ISOBE KAZUMASA , KAWAKAMI YASUSHI , OKAMOTO TAKAHIRO , TAKEKOSHI KAZUHIRO

    … and <I>SDHB</I>, have been found to be associated with the development of familial pheochromocytomas and paragangliomas (hereditary pheochromocytoma/paraganglioma syndrome: HPPS). … is highly associated with abdominal paraganglioma and the following distant metastasis (malignant paraganglioma). …

    Endocrine Journal 57(4), 351-356, 2010-04-01

    J-STAGE  Ichushi Web  References (22) Cited by (1)

  • Genetic Testing of Pheochromocytoma: An Update in Japan  [in Japanese]

    Takekoshi Kazuhiro , Kodama Hitomi , Midorikawa Sanae , Nissato Sumiko , Isobe Kazumasa , Kawakami Yasushi , Sakurai Akihiro

    … t;/i>はTCA 回路のコハク酸脱水素酵素サブユニットをコードする遺伝子であり,特に<i>SDHB・SDHD</i>変異による遺伝性褐色細胞腫・パラガングリオーマをhereditary pheochromocytoma/ paraganglioma syndrome「HPPS」と呼ぶことが多い.<i>SDHB</i>の変異は腹部の副腎外褐色細胞腫(パラガングリオーマ)から発症し,その後高率に遠隔転移(悪性化)する.<i& …

    JOURNAL OF FAMILIAL TUMORS 10(1), 6-12, 2010

    J-STAGE  Ichushi Web  Cited by (1)

  • Hereditary Pheochromocytoma/Paraganglioma Syndrome : An Overview  [in Japanese]

    Sakurai Akihiro

    21 世紀の初頭,コハク酸脱水素酵素のサブユニットをコードする複数の遺伝子が褐色細胞腫の原因遺伝子として同定された.その後の解析研究で,これら遺伝子の生殖細胞系列変異による褐色細胞腫が予想以上に多いことが明らかとなり,遺伝性褐色細胞腫という疾患概念が確立した.海外では褐色細胞腫患者の遺伝子解析が精力的に行われ,臨床像との関連や浸透率などについて知見が蓄積されつつある.日本でも今後この方面での研究の …

    JOURNAL OF FAMILIAL TUMORS 10(1), 2-5, 2010

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  • Mutation analysis of the SDHB and SDHD genes in pheochromocytomas and paragangliomas: identification of a novel nonsense mutation (Q168X) in the SDHB gene

    Oishi Yohmi , Nagai So , Yoshida Miyuki , Fujisawa Shin-ichi , Sazawa Ataru , Shinohara Nobuo , Nonomura Katsuya , Matsuno Kazuhiko , Shimizu Chikara

    Pheochromocytoma (PCC) and paraganglioma (PGL) are tumors of the autonomic nervous system. … Recently, PCC and PGL caused by genetic mutations of <i>SDHB</i>, <i>SDHC </i>and <i>SDHD </i>were established as hereditary pheochromocytoma paraganglioma syndrome (HPPS). …

    Endocrine Journal 57(8), 745-750, 2010

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  • Novel Mutation (L157X) in the Succinate Dehydrogenase B Gene (SDHB) in a Japanese Family with Abdominal Paraganglioma Following Lung Metastasis

    SAITO Tomohito , KAWA Gen , YAMAMOTO Nae , FUJII Yoshimitsu , ISOBE Kazumasa , KAWAKAMI Yasushi , MATSUDA Tadashi , TAKEKOSHI Kazuhiro , SAITO Yukihito , MATSUMURA Koichiro , TSUBOTA Yu , MANIWA Tomohiro , KANEDA Hiroyuki , MINAMI Ken-ichiro , SAKAIDA Noriko , UEMURA Yoshiko

    … Recently, nuclear genes encoding two mitochondrial complex II subunit proteins, SDHD and SDHB, have been found to be associated with the development of familial pheochromocytomas and paragangliomas (hereditary pheochromocytoma/paraganglioma syndrome: HPPS). … Growing evidence suggests that the mutation of SDHB is highly associated with abdominal paraganglioma and the following distant metastasis (malignant paraganglioma). …

    Endocrine Journal 56(3), 451-458, 2009

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  • 6. Endocrine and Metabolic Diseases  [in Japanese]

    Ieiri Tamio , Hishinuma Akira , Takekoshi Kazuhiro

    内分泌・代謝疾患の診断・治療では,イムノアッセイによるホルモンの検査値が大きな意味を持つ.検査の正確性の担保および互換性の確保をめざして世界的に医療界の枠を超えた計測標準の視点で標準化が進められている.本稿では,イムノアッセイ全国コントロールサーベイの結果を示しながら標準化の必要性は認められてきているが,その達成にはなお大きなハードルがある現状を解説した.糖尿病の診断・治療で重要なHbA1c測定の …

    Nihon Naika Gakkai Zasshi 97(12), 2983-2990, 2008-12-10

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  • Genetic Diagnosis of Pheochromocytoma  [in Japanese]

    Takekoshi Kazuhiro , Isobe Kazumasa , Kawakami Yasushi

    … 路のコハク酸脱水素酵素サブユニットをコードする遺伝子であり,特に<i>SDHB</i>・<i>SDHD</i>変異による遺伝性褐色細胞腫・パラガングリオーマをHereditary pheochromocytoma/paraganglioma syndrome「HPPS」と呼ぶことが多い.<i>SDHB</i>の変異は腹部の副腎外褐色細胞腫(パラガングリオーマ)から発症し,その後高率に遠隔転移(悪性化)する.<i& …

    Nihon Naika Gakkai Zasshi 97(10), 2558-2565, 2008-10-10

    J-STAGE  Ichushi Web  References (22) Cited by (1)

  • R46Q Mutation in the Succinate Dehydrogenase B Gene (SDHB) in a Japanese Family with both Abdominal and Thoracic Paraganglioma Following Metastasis

    TAKEKOSHI Kazuhiro , ISOBE Kazumasa , SUZUKI Hiroaki , NISSATO Sumiko , KAWAKAMI Yasushi , KAWAI Koichi , YAMADA Nobuhiro

    … and <i>SDHB</i>, have been found to be associated with the development of familial pheochromocytomas and paragangliomas (hereditary pheochromocytoma/paraganglioma syndrome: HPPS). … is highly associated with abdominal (or thoracic) paraganglioma and the following distant metastasis (malignant paraganglioma). …

    Endocrine Journal 55(2), 299-303, 2008

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