| Item type |
学術雑誌論文 / Journal Article(1) |
| 公開日 |
2013-08-27 |
| タイトル |
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|
タイトル |
Cholesteryl ester transfer protein deficiency is correlated with thyroid disease |
|
言語 |
en |
| 言語 |
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|
言語 |
eng |
| 資源タイプ |
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|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
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資源タイプ |
journal article |
| 著者 |
Yan-Ping, Feng
Kondo, Akira
Maekawa, Masato
Kanno, Takashi
|
| 書誌情報 |
生物物理化学
巻 45,
号 1,
p. 65-68,
発行日 2001-03-15
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| 出版者 |
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出版者 |
日本電気泳動学会 |
| 権利 |
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|
権利情報 |
2010 Japanese Electrophoresis Society |
| 抄録 |
|
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内容記述タイプ |
Abstract |
|
内容記述 |
We investigated whether cholesteryl ester transfer protein (CETP) deficiency is a risk factor for atherosclerosis or other disease. Ninety-seven individuals with increased levels of high density lipoprotein-cholesterol (HDL-C) (≧85mg/dl) were selected. CETP deficiency was assessed in all 97 subjects by polymerase chain reaction (PCR) and either single stranded conformation polymorphism (SSCP) or restriction fragment length polymorphism (RFLP). Of the 97 subjects, 7 (7%) were heterozygous for the intron 14 splicing defect, which decreases CETP activity, and 9 (9%) were heterozygous for D442G missense mutation, which has no effect on CETP activity. One patient was found to be a compound heterozygote for the intron 14 and D442G mutations. These mutations were found in only 3 atherosclerotic patients; 2 carried the D442G mutation, and 1 had the intron 14 mutation. Although CETP activity was not associated with atherosclerosis, we discovered a novel relation between CETP gene mutations and thyroid gland disorders. Specifically, 5 of 7 subjects with CETP gene intron 14 mutation had thyroid disease. Regarding the D442G mutation, there was no difference between subjects with and without thyroid disease. It is possible that CETP activity affects thyroid function. |
| ISSN |
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収録物識別子タイプ |
ISSN |
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収録物識別子 |
00319082 |
| EISSN |
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収録物識別子タイプ |
ISSN |
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収録物識別子 |
13499785 |
| 出版社DOI |
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関連タイプ |
isIdenticalTo |
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|
識別子タイプ |
DOI |
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関連識別子 |
10.2198/sbk.45.65 |
| 著者版フラグ |
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出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
Seibutubuturi45_1-65.pdf (752.8 kB)
