| Item type |
文献 / Documents(1) |
| 公開日 |
2016-05-16 |
| アクセス権 |
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アクセス権 |
open access |
| 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 |
| 出版社版DOI |
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識別子タイプ |
DOI |
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関連識別子 |
https://doi.org/10.1210/jc.2015-1869 |
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言語 |
ja |
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|
関連名称 |
10.1210/jc.2015-1869 |
| 出版タイプ |
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|
出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| タイトル |
|
|
タイトル |
Landscape of familial isolated and young-onset pituitary adenomas : prospective diagnosis in AIP mutation carriers |
|
言語 |
en |
| タイトル別表記 |
|
|
その他のタイトル |
Landscape of FIPA : AIP and Prospective Diagnosis |
|
言語 |
en |
| 著者 |
Hernández-Ramírez, Laura C.
Gabrovska, Plamena
Dénes, Judit
Stals, Karen
Trivellin, Giampaolo
Tilley, Daniel
Ferraù, Francesco
Evanson, Jane
Ellard, Sian
Grossman, Ashley B.
Roncaroli, Federico
Gadelha, Mônica R.
Korbonits, Márta
岩田, 武男
吉本, 勝彦
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| 抄録 |
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内容記述タイプ |
Abstract |
|
内容記述 |
Context: Familial isolated pituitary adenoma (FIPA) due to aryl hydrocarbon receptor interacting protein (AIP) gene mutations is an autosomal dominant disease with incomplete penetrance. Clinical screening of apparently unaffected AIP mutation (AIPmut) carriers could identify previously unrecognized disease.
Objective: To determine the AIP mutational status of FIPA and young pituitary adenoma patients, analyzing their clinical characteristics, and to perform clinical screening of apparently unaffected AIPmut carrier family members.
Design: This was an observational, longitudinal study conducted over 7 years.
Setting: International collaborative study conducted at referral centers for pituitary diseases.
Participants: FIPA families (n = 216) and sporadic young-onset (≤30 y) pituitary adenoma patients (n = 404) participated in the study.
Interventions: We performed genetic screening of patients for AIPmuts, clinical assessment of their family members, and genetic screening for somatic GNAS1 mutations and the germline FGFR4 p.G388R variant.
Main Outcome Measure(s): We assessed clinical disease in mutation carriers, comparison of characteristics of AIPmut positive and negative patients, results of GNAS1, and FGFR4 analysis.
Results: Thirty-seven FIPA families and 34 sporadic patients had AIPmuts. Patients with truncating AIPmuts had a younger age at disease onset and diagnosis, compared with patients with nontruncating AIPmuts. Somatic GNAS1 mutations were absent in tumors from AIPmut-positive patients, and the studied FGFR4 variant did not modify the disease behavior or penetrance in AIPmut-positive individuals.Atotal of 164 AIPmut-positive unaffected family members were identified; pituitary disease was detected in 18 of those who underwent clinical screening.
Conclusions: A quarter of the AIPmut carriers screened were diagnosed with pituitary disease, justifying this screening and suggesting a variable clinical course for AIPmut-positive pituitary adenomas. |
|
言語 |
en |
| 書誌情報 |
en : The Journal of Clinical Endocrinology & Metabolism
巻 100,
号 9,
p. E1242-E1254,
発行日 2015-07-17
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| 収録物ID |
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収録物識別子タイプ |
ISSN |
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収録物識別子 |
0021972X |
| 収録物ID |
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収録物識別子タイプ |
ISSN |
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収録物識別子 |
19457197 |
| 収録物ID |
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収録物識別子タイプ |
NCID |
|
収録物識別子 |
AA00695484 |
| 収録物ID |
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収録物識別子タイプ |
NCID |
|
収録物識別子 |
AA1203774X |
| 出版者 |
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|
出版者 |
The Endocrine Society |
|
言語 |
en |
| 出版者 |
|
|
出版者 |
Oxford University Press |
|
言語 |
en |
| 備考 |
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|
言語 |
ja |
|
値 |
Collaborators : Members of the FIPA consortium are listed at http://www.fipapatients.org/fipaconsortium/. |
| 権利情報 |
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|
言語 |
en |
|
権利情報 |
Copyright © 2015 by the Endocrine Society This article has been published under the terms of the Creative Commons Attribution License (CC-BY; https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Copyright for this article is retained by the author(s). |
| EID |
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識別子 |
298560 |
|
識別子タイプ |
URI |
| 言語 |
|
|
言語 |
eng |
jcem_100_9_E1242.pdf (522 KB)
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