WEKO3
アイテム
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Stroke is an important manifestation of Fabry disease, and recent epidemiological studies have indicated that up to 4.9% of young male cryptogenic stroke patients have GLA mutations. To determine the importance of GLA mutations in the general stroke population, the frequency of GLA mutations in Japanese male ischaemic stroke (IS) patients with various risk factors and ages was measured. MethodsA total of 475 male IS patients (mean age 69.712.5years), were enrolled in this study. A blood sample was obtained to produce blood spots for measurement of -GAL activity. Blood samples with decreased enzymatic activity were reassayed and the entire GLA gene was analyzed by direct DNA sequencing if -Gal A activity was consistently low. Results-Gal A activity was decreased in 10 men, five of whom (1.1%) had the GLA gene mutation, p.E66Q. All IS patients with p.E66Q mutation had substantial residual -Gal A activity, in contrast to patients with classic-type Fabry disease. Clinically, all patients with p.E66Q mutation were \u003e50years old and had multiple small-vessel occlusions (lacunar infarctions). Statistical analysis using Fisher\u0027s exact test showed the allele frequency of GLA p.E66Q in patients with small-vessel occlusion to be significantly higher than that in the general Japanese population [odds ratio (OR)=3.34, P=0.025). ConclusionsGLA p.E66Q mutation is a genetic risk factor for cerebral small-vessel occlusion in elderly Japanese males.", "subitem_description_type": "Other"}]}, "item_20002_description_20": {"attribute_name": "資源タイプ", "attribute_value_mlt": [{"subitem_description": "Article", "subitem_description_type": "Other"}]}, "item_20002_description_22": {"attribute_name": "その他の資源識別子", "attribute_value_mlt": [{"subitem_description": "EUROPEAN JOURNAL OF NEUROLOGY. 21(1):49-56 (2014)", "subitem_description_type": "Other"}]}, "item_20002_full_name_16": {"attribute_name": "公開者(その他言語)", "attribute_value_mlt": [{"nameIdentifiers": [{"nameIdentifier": "105361", "nameIdentifierScheme": "WEKO"}], "names": [{"name": "WILEY-BLACKWELL"}]}]}, "item_20002_identifier_23": {"attribute_name": "資源識別子URI", "attribute_value_mlt": [{"subitem_identifier_type": "HDL", "subitem_identifier_uri": "http://hdl.handle.net/10091/17575"}]}, "item_20002_relation_31": {"attribute_name": "PubMed番号", "attribute_value_mlt": [{"subitem_relation_type": "isVersionOf", "subitem_relation_type_id": {"subitem_relation_type_id_text": "http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search\u0026DB=pubmed\u0026term=23724928", "subitem_relation_type_select": "PMID"}}]}, "item_20002_relation_32": {"attribute_name": "DOI", "attribute_value_mlt": [{"subitem_relation_type": "isVersionOf", "subitem_relation_type_id": {"subitem_relation_type_id_text": "http://dx.doi.org/10.1111/ene.12214", "subitem_relation_type_select": "DOI"}}]}, "item_20002_rights_50": {"attribute_name": "権利", "attribute_value_mlt": [{"subitem_rights": "The definitive version is available at wileyonlinelibrary.com"}]}, "item_20002_source_id_25": {"attribute_name": "ISSN", "attribute_value_mlt": [{"subitem_source_identifier": "1351-5101", "subitem_source_identifier_type": "ISSN"}]}, "item_20002_source_id_26": {"attribute_name": "処理レコードID(総合目録DB)", "attribute_value_mlt": [{"subitem_source_identifier": "AA11015934", "subitem_source_identifier_type": "NCID"}]}, "item_20002_text_52": {"attribute_name": "機関ID", "attribute_value_mlt": [{"subitem_text_value": "17"}]}, "item_20002_text_53": {"attribute_name": "コンテンツID", "attribute_value_mlt": [{"subitem_text_value": "oai:soar-ir.repo.nii.ac.jp:00003749"}]}, "item_20002_text_54": {"attribute_name": "コンテンツ更新日時", "attribute_value_mlt": [{"subitem_text_value": "2020-08-03T06:51:28Z"}]}, "item_20002_version_type_51": {"attribute_name": "著者版フラグ", "attribute_value_mlt": [{"subitem_version_resource": "http://purl.org/coar/version/c_ab4af688f83e57aa", "subitem_version_type": "AM"}]}, "item_access_right": {"attribute_name": "アクセス権", "attribute_value_mlt": [{"subitem_access_right": "metadata only access", "subitem_access_right_uri": "http://purl.org/coar/access_right/c_14cb"}]}, "item_files": {"attribute_name": "ファイル情報", "attribute_type": "file", "attribute_value_mlt": [{"download_preview_message": "", "file_order": 0, "filename": "", "future_date_message": "", "is_thumbnail": false, "mimetype": "", "size": 0, "url": {"url": "https://soar-ir.repo.nii.ac.jp/?action=repository_action_common_download\u0026item_id=3749\u0026item_no=1\u0026attribute_id=65\u0026file_no=1"}, "version_id": ""}]}, "item_keyword": {"attribute_name": "キーワード", "attribute_value_mlt": [{"subitem_subject": "cerebral hemorrhage", "subitem_subject_scheme": "Other"}, {"subitem_subject": "cerebral infarction", "subitem_subject_scheme": "Other"}, {"subitem_subject": "cerebral small-vessel occlusion", "subitem_subject_scheme": "Other"}, {"subitem_subject": "Fabry disease", "subitem_subject_scheme": "Other"}, {"subitem_subject": "GLA", "subitem_subject_scheme": "Other"}, {"subitem_subject": "lacunar infarction", "subitem_subject_scheme": "Other"}, {"subitem_subject": "risk factors", "subitem_subject_scheme": "Other"}, {"subitem_subject": "alpha-galactosidase A", "subitem_subject_scheme": "Other"}]}, "item_language": {"attribute_name": "言語", "attribute_value_mlt": [{"subitem_language": "eng"}]}, "item_resource_type": {"attribute_name": "資源タイプ", "attribute_value_mlt": [{"resourcetype": "journal article", "resourceuri": "http://purl.org/coar/resource_type/c_6501"}]}, "item_title": "p.E66Q mutation in the GLA gene is associated with a high risk of cerebral small-vessel occlusion in elderly Japanese males", "item_titles": {"attribute_name": "タイトル", "attribute_value_mlt": [{"subitem_title": "p.E66Q mutation in the GLA gene is associated with a high risk of cerebral small-vessel occlusion in elderly Japanese males"}]}, "item_type_id": "20002", "owner": "3", "path": ["2668"], "permalink_uri": "https://shinshu.repo.nii.ac.jp/records/27095", "pubdate": {"attribute_name": "公開日", "attribute_value": "2020-09-01"}, "publish_date": "2020-09-01", "publish_status": "0", "recid": "27095", "relation": {}, "relation_version_is_last": true, "title": ["p.E66Q mutation in the GLA gene is associated with a high risk of cerebral small-vessel occlusion in elderly Japanese males"], "weko_shared_id": 3}
p.E66Q mutation in the GLA gene is associated with a high risk of cerebral small-vessel occlusion in elderly Japanese males
https://shinshu.repo.nii.ac.jp/records/27095
https://shinshu.repo.nii.ac.jp/records/27095546a3524-7f1c-4304-9409-faf1b69484b7
名前 / ファイル | ライセンス | アクション |
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https://soar-ir.repo.nii.ac.jp/?action=repository_action_common_download&item_id=3749&item_no=1&attribute_id=65&file_no=1
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Item type | Journal Article(1) | |||||
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公開日 | 2020-09-01 | |||||
タイトル | ||||||
タイトル | p.E66Q mutation in the GLA gene is associated with a high risk of cerebral small-vessel occlusion in elderly Japanese males | |||||
作成者(その他言語) |
Nakamura, K
× Nakamura, K× Sekijima, Y× Nakamura, K× Hattori, K× Nagamatsu, K× Shimizu, Y× Yazaki, M× Sakurai, A× Endo, F× Fukushima, Y× Ikeda, S. -I |
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公開者(その他言語) | ||||||
姓名 | WILEY-BLACKWELL | |||||
書誌情報 |
EUROPEAN JOURNAL OF NEUROLOGY 巻 21, 号 1, p. 49-56, 発行日 2014-01 |
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言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | cerebral hemorrhage | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | cerebral infarction | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | cerebral small-vessel occlusion | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Fabry disease | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | GLA | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | lacunar infarction | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | risk factors | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | alpha-galactosidase A | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
資源タイプ | journal article | |||||
アクセス権 | ||||||
アクセス権 | metadata only access | |||||
アクセス権URI | http://purl.org/coar/access_right/c_14cb | |||||
内容記述 | ||||||
内容記述タイプ | Other | |||||
内容記述 | Background and purposeGLA is the causative gene of Fabry disease, an X-linked lysosomal storage disorder resulting from -galactosidase A (-GAL) deficiency. Stroke is an important manifestation of Fabry disease, and recent epidemiological studies have indicated that up to 4.9% of young male cryptogenic stroke patients have GLA mutations. To determine the importance of GLA mutations in the general stroke population, the frequency of GLA mutations in Japanese male ischaemic stroke (IS) patients with various risk factors and ages was measured. MethodsA total of 475 male IS patients (mean age 69.712.5years), were enrolled in this study. A blood sample was obtained to produce blood spots for measurement of -GAL activity. Blood samples with decreased enzymatic activity were reassayed and the entire GLA gene was analyzed by direct DNA sequencing if -Gal A activity was consistently low. Results-Gal A activity was decreased in 10 men, five of whom (1.1%) had the GLA gene mutation, p.E66Q. All IS patients with p.E66Q mutation had substantial residual -Gal A activity, in contrast to patients with classic-type Fabry disease. Clinically, all patients with p.E66Q mutation were >50years old and had multiple small-vessel occlusions (lacunar infarctions). Statistical analysis using Fisher's exact test showed the allele frequency of GLA p.E66Q in patients with small-vessel occlusion to be significantly higher than that in the general Japanese population [odds ratio (OR)=3.34, P=0.025). ConclusionsGLA p.E66Q mutation is a genetic risk factor for cerebral small-vessel occlusion in elderly Japanese males. | |||||
日付 | ||||||
日付 | 2015-09-24 | |||||
日付タイプ | Created | |||||
資源タイプ | ||||||
内容記述タイプ | Other | |||||
内容記述 | Article | |||||
その他の資源識別子 | ||||||
内容記述タイプ | Other | |||||
内容記述 | EUROPEAN JOURNAL OF NEUROLOGY. 21(1):49-56 (2014) | |||||
資源識別子URI | ||||||
識別子 | http://hdl.handle.net/10091/17575 | |||||
識別子タイプ | HDL | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 1351-5101 | |||||
処理レコードID(総合目録DB) | ||||||
収録物識別子タイプ | NCID | |||||
収録物識別子 | AA11015934 | |||||
PubMed番号 | ||||||
関連タイプ | isVersionOf | |||||
識別子タイプ | PMID | |||||
関連識別子 | http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=pubmed&term=23724928 | |||||
DOI | ||||||
関連タイプ | isVersionOf | |||||
識別子タイプ | DOI | |||||
関連識別子 | http://dx.doi.org/10.1111/ene.12214 | |||||
権利 | ||||||
権利情報 | The definitive version is available at wileyonlinelibrary.com | |||||
著者版フラグ | ||||||
出版タイプ | AM | |||||
出版タイプResource | http://purl.org/coar/version/c_ab4af688f83e57aa |