ログイン
言語:

WEKO3

  • トップ
  • コミュニティ
  • ランキング
AND
To

Field does not validate



インデックスリンク

インデックスツリー

WEKO

One fine body…

アイテム

{"_buckets": {"deposit": "68129b0e-66e6-4703-8513-db3aedc71016"}, "_deposit": {"id": "55988", "owners": [], "pid": {"revision_id": 0, "type": "depid", "value": "55988"}, "status": "published"}, "_oai": {"id": "oai:tsukuba.repo.nii.ac.jp:00055988"}, "item_5_biblio_info_6": {"attribute_name": "\u66f8\u8a8c\u60c5\u5831", "attribute_value_mlt": [{"bibliographicIssueDates": {"bibliographicIssueDate": "2020-03", "bibliographicIssueDateType": "Issued"}, "bibliographicPageStart": "9", "bibliographicVolumeNumber": "7", "bibliographic_titles": [{}, {"bibliographic_title": "Human Genome Variation", "bibliographic_titleLang": "en"}]}]}, "item_5_description_4": {"attribute_name": "\u6284\u9332", "attribute_value_mlt": [{"subitem_description": "We report a 7-year-old boy with infantile spasms caused by a novel mutation in the Aristaless-related homeobox (ARX) gene. He showed infantile spasms and hypsarrhythmia on electroencephalogram from early infancy. Brain MRI did not reveal severe malformation of the brain except mild hypoplasia of the corpus callosum. Two-fold adrenocorticotropic hormone (ACTH) therapy failed to control the seizures, and ketogenic diet therapy and multi-antiepileptic drug therapy were required as he showed intractable daily tonic-clonic seizures. Exome sequencing identified a hemizygous mutation in the ARX gene, NG_008281.1(ARX_v001):c.1448\u2009+\u20091\u2009G\u2009\u003e\u2009A, chrX: 25025227\u2009C\u2009\u003e\u2009T (GRCh37). To our knowledge, this mutation has not been reported previously.", "subitem_description_type": "Abstract"}]}, "item_5_publisher_27": {"attribute_name": "\u51fa\u7248\u8005", "attribute_value_mlt": [{"subitem_publisher": "publisher"}]}, "item_5_relation_10": {"attribute_name": "PubMed\u756a\u53f7", "attribute_value_mlt": [{"subitem_relation_type_id": {"subitem_relation_type_id_text": "32257294 ", "subitem_relation_type_select": "PMID"}}]}, "item_5_relation_11": {"attribute_name": "DOI", "attribute_value_mlt": [{"subitem_relation_type_id": {"subitem_relation_type_id_text": "10.1038/s41439-020-0094-2", "subitem_relation_type_select": "DOI"}}]}, "item_5_rights_12": {"attribute_name": "\u6a29\u5229", "attribute_value_mlt": [{"subitem_rights": "\u00a9 The Author(s) 2020"}, {"subitem_rights": "This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any mediumor format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changesweremade. The images or other third party material in this article are included in the article\u2019s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article\u2019s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/."}]}, "item_5_select_15": {"attribute_name": "\u8457\u8005\u7248\u30d5\u30e9\u30b0", "attribute_value_mlt": [{"subitem_select_item": "publisher"}]}, "item_5_source_id_7": {"attribute_name": "ISSN", "attribute_value_mlt": [{"subitem_source_identifier": "2054-345X", "subitem_source_identifier_type": "ISSN"}]}, "item_creator": {"attribute_name": "\u8457\u8005", "attribute_type": "creator", "attribute_value_mlt": [{"creatorNames": [{"creatorName": "\u5927\u6238, \u9054\u4e4b"}, {"creatorName": "\u30aa\u30aa\u30c8, \u30bf\u30c4\u30e6\u30ad", "creatorNameLang": "ja-Kana"}, {"creatorName": "OHTO, Tatsuyuki", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "204063", "nameIdentifierScheme": "WEKO"}, {"nameIdentifier": "60344892", "nameIdentifierScheme": "e-Rad", "nameIdentifierURI": "https://nrid.nii.ac.jp/ja/nrid/1000060344892"}, {"nameIdentifier": "0000001892", "nameIdentifierScheme": "\u7b51\u6ce2\u5927\u5b66\u7814\u7a76\u8005\u7dcf\u89a7", "nameIdentifierURI": "http://trios.tsukuba.ac.jp/researcher/0000001892"}]}, {"creatorNames": [{"creatorName": "\u798f\u5cf6, \u7d18\u5b50"}, {"creatorName": "\u30d5\u30af\u30b7\u30de, \u30d2\u30ed\u30b3", "creatorNameLang": "ja-Kana"}, {"creatorName": "FUKUSHIMA, Hiroko", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "204746", "nameIdentifierScheme": "WEKO"}, {"nameIdentifier": "30624986", "nameIdentifierScheme": "e-Rad", "nameIdentifierURI": "https://nrid.nii.ac.jp/ja/nrid/1000030624986"}, {"nameIdentifier": "0000003310", "nameIdentifierScheme": "\u7b51\u6ce2\u5927\u5b66\u7814\u7a76\u8005\u7dcf\u89a7", "nameIdentifierURI": "http://trios.tsukuba.ac.jp/researcher/0000003310"}]}, {"creatorNames": [{"creatorName": "Takeshita, Yohei", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "222672", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Enokizono, Takashi", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "222673", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Tanaka, Mai", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "222674", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Suzuki, Hisato", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "222675", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Uehara, Tomoko", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "222676", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Takenouchi, Toshiki", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "222677", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Kosaki, Kenjiro", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "222678", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Takada, Hidetoshi", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "222679", "nameIdentifierScheme": "WEKO"}]}]}, "item_files": {"attribute_name": "\u30d5\u30a1\u30a4\u30eb\u60c5\u5831", "attribute_type": "file", "attribute_value_mlt": [{"accessrole": "open_date", "date": [{"dateType": "Available", "dateValue": "2020-09-17"}], "displaytype": "detail", "download_preview_message": "", "filename": "HGV_7-9.pdf", "filesize": [{"value": "511.2 kB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensetype": "license_6", "mimetype": "application/pdf", "size": 5112000, "url": {"label": "HGV_7-9", "url": "https://tsukuba.repo.nii.ac.jp/record/55988/files/HGV_7-9.pdf"}, "version_id": "545d328b-d6cb-4d43-bb78-d7340475991d"}]}, "item_language": {"attribute_name": "\u8a00\u8a9e", "attribute_value_mlt": [{"subitem_language": "eng"}]}, "item_resource_type": {"attribute_name": "\u8cc7\u6e90\u30bf\u30a4\u30d7", "attribute_value_mlt": [{"resourcetype": "journal article", "resourceuri": "http://purl.org/coar/resource_type/c_6501"}]}, "item_title": "Novel ARX mutation identified in infantile spasm syndrome patient", "item_titles": {"attribute_name": "\u30bf\u30a4\u30c8\u30eb", "attribute_value_mlt": [{"subitem_title": "Novel ARX mutation identified in infantile spasm syndrome patient", "subitem_title_language": "en"}]}, "item_type_id": "5", "owner": "1", "path": ["2780/1491", "2780/5860", "3/62/5590/7892"], "permalink_uri": "http://hdl.handle.net/2241/00161392", "pubdate": {"attribute_name": "\u516c\u958b\u65e5", "attribute_name_i18n": "\u516c\u958b\u65e5", "attribute_value": "2020-09-17"}, "publish_date": "2020-09-17", "publish_status": "0", "recid": "55988", "relation": {}, "relation_version_is_last": true, "title": ["Novel ARX mutation identified in infantile spasm syndrome patient"], "weko_shared_id": 5}
  1. 医学医療系 (Faculty of Medicine)
  2. 大戸 達之 (Ohto Tatsuyuki)
  1. 医学医療系 (Faculty of Medicine)
  2. 福島 紘子 (Fukushima Hiroko)
  1. コンテンツタイプ (Contents Type)
  2. 雑誌発表論文等 (Journal article, etc.)
  3. H~
  4. Human Genome Variation

Novel ARX mutation identified in infantile spasm syndrome patient

http://hdl.handle.net/2241/00161392
24cbf690-2afb-4cc7-a6ce-c06665de53e5
プレビュー
名前 / ファイル ライセンス Actions
HGV_7-9.pdf HGV_7-9 (511.2 kB)
license.icon
item type Journal Article(1)
公開日 2020-09-17
タイトル
言語 en
タイトル Novel ARX mutation identified in infantile spasm syndrome patient
言語
言語 eng
資源タイプ
タイプ journal article
著者 大戸, 達之

× 大戸, 達之

WEKO 204063
e-Rad 60344892
筑波大学研究者総覧 0000001892

大戸, 達之

ja-Kana オオト, タツユキ

en OHTO, Tatsuyuki

Search repository
福島, 紘子

× 福島, 紘子

WEKO 204746
e-Rad 30624986
筑波大学研究者総覧 0000003310

福島, 紘子

ja-Kana フクシマ, ヒロコ

en FUKUSHIMA, Hiroko

Search repository
Takeshita, Yohei

× Takeshita, Yohei

WEKO 222672

en Takeshita, Yohei

Search repository
Enokizono, Takashi

× Enokizono, Takashi

WEKO 222673

en Enokizono, Takashi

Search repository
Tanaka, Mai

× Tanaka, Mai

WEKO 222674

en Tanaka, Mai

Search repository
Suzuki, Hisato

× Suzuki, Hisato

WEKO 222675

en Suzuki, Hisato

Search repository
Uehara, Tomoko

× Uehara, Tomoko

WEKO 222676

en Uehara, Tomoko

Search repository
Takenouchi, Toshiki

× Takenouchi, Toshiki

WEKO 222677

en Takenouchi, Toshiki

Search repository
Kosaki, Kenjiro

× Kosaki, Kenjiro

WEKO 222678

en Kosaki, Kenjiro

Search repository
Takada, Hidetoshi

× Takada, Hidetoshi

WEKO 222679

en Takada, Hidetoshi

Search repository
抄録
内容記述 We report a 7-year-old boy with infantile spasms caused by a novel mutation in the Aristaless-related homeobox (ARX) gene. He showed infantile spasms and hypsarrhythmia on electroencephalogram from early infancy. Brain MRI did not reveal severe malformation of the brain except mild hypoplasia of the corpus callosum. Two-fold adrenocorticotropic hormone (ACTH) therapy failed to control the seizures, and ketogenic diet therapy and multi-antiepileptic drug therapy were required as he showed intractable daily tonic-clonic seizures. Exome sequencing identified a hemizygous mutation in the ARX gene, NG_008281.1(ARX_v001):c.1448 + 1 G > A, chrX: 25025227 C > T (GRCh37). To our knowledge, this mutation has not been reported previously.
書誌情報 en : Human Genome Variation

巻 7, p. 9, 発行日 2020-03
ISSN
収録物識別子 2054-345X
PubMed番号
関連識別子
関連識別子 32257294
DOI
関連識別子
関連識別子 10.1038/s41439-020-0094-2
権利
権利情報 © The Author(s) 2020
権利
権利情報 This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any mediumor format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changesweremade. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
著者版フラグ
値 publisher
出版者
出版者 publisher
Back
0
views
See details
Views

Versions

Ver.1 2021-03-01 12:12:24.119943
Show All versions

Share

Mendeley CiteULike Twitter Facebook Print Addthis

Cite as

Export

OAI-PMH
  • OAI-PMH JPCOAR
  • OAI-PMH DublinCore
  • OAI-PMH DDI
Other Formats
  • JSON
  • BIBTEX

Confirm


Powered by CERN Data Centre & Invenio


Powered by CERN Data Centre & Invenio