WEKO3
アイテム
{"_buckets": {"deposit": "17f7243c-bbe9-4fa5-9e5e-0653761fa316"}, "_deposit": {"created_by": 1, "id": "21616", "owners": [1], "pid": {"revision_id": 0, "type": "depid", "value": "21616"}, "status": "published"}, "_oai": {"id": "oai:kumadai.repo.nii.ac.jp:00021616", "sets": ["443"]}, "author_link": ["93063", "93061", "93058", "93060", "93163", "103213", "150497", "93059"], "item_16_biblio_info_6": {"attribute_name": "書誌情報", "attribute_value_mlt": [{"bibliographicIssueDates": {"bibliographicIssueDate": "2000-01", "bibliographicIssueDateType": "Issued"}, "bibliographicIssueNumber": "1", "bibliographicPageEnd": "124", "bibliographicPageStart": "116", "bibliographicVolumeNumber": "106", "bibliographic_titles": [{"bibliographic_title": "Human Genetics"}]}]}, "item_16_creator_3": {"attribute_name": "別言語の著者", "attribute_type": "creator", "attribute_value_mlt": [{"creatorAffiliations": [{"affiliationNameIdentifiers": [{"affiliationNameIdentifier": "", "affiliationNameIdentifierScheme": "ISNI", "affiliationNameIdentifierURI": "http://www.isni.org/isni/"}], "affiliationNames": [{"affiliationName": "", "affiliationNameLang": "ja"}]}], "creatorNames": [{"creatorName": "Indo, Yasuhiro", "creatorNameLang": "en"}, {"creatorName": "犬童, 康弘", "creatorNameLang": "ja"}, {"creatorName": "インドウ, ヤスヒロ", "creatorNameLang": "ja-Kana"}], "familyNames": [{"familyName": "Indo", "familyNameLang": "en"}, {"familyName": "犬童", "familyNameLang": "ja"}, {"familyName": "インドウ", "familyNameLang": "ja-Kana"}], "givenNames": [{"givenName": "Yasuhiro", "givenNameLang": "en"}, {"givenName": "康弘", "givenNameLang": "ja"}, {"givenName": "ヤスヒロ", "givenNameLang": "ja-Kana"}], "nameIdentifiers": [{"nameIdentifier": "93163", "nameIdentifierScheme": "WEKO"}]}]}, "item_16_description_17": {"attribute_name": "フォーマット", "attribute_value_mlt": [{"subitem_description": "application/pdf", "subitem_description_type": "Other"}]}, "item_16_description_46": {"attribute_name": "資源タイプ", "attribute_value_mlt": [{"subitem_description": "論文(Article)", "subitem_description_type": "Other"}]}, "item_16_description_5": {"attribute_name": "内容記述", "attribute_value_mlt": [{"subitem_description": "The human TRKA gene encodes a high-affinity tyrosine kinase receptor for nerve growth factor. Congenital insensitivity to pain with anhidrosis (CIPA) is an autosomal recessive genetic disorder reported from various countries and characterized by anhidrosis (inability to sweat), the absence of reaction to noxious stimuli, and mental retardation. We have found that TRKA is the gene responsible for CIPA. We have studied TRKA in 46 CIPA chromosomes derived from 23 unrelated Japanese CIPA families, including three that have been previously reported, and identified 11 novel mutations. Four (L93P, G516R, R648 C, and D668Y) are missense mutations that result in amino acid substitutions at positions conserved in the TRK family, including TRKA, TRKB, and TRKC. Three (S131 fs, L579 fs, and D770 fs) are frameshift mutations. Three (E164X, Y359X, and R596X) are nonsense mutations. The other is an intronic branch-site (IVS7-33TMA) mutation, causing aberrant splicing in vitro. We also report the characterization of eight intragenic polymorphic sites, including a variable dinucleotide repeat and seven single nucleotide polymorphisms, and describe the haplotypic associations of alleles at these sites in 106 normal chromosomes and 46 CIPA chromosomes. More than 50% of CIPA chromosomes share the frameshift mutation (R548 fs) that we described earlier. This mutation apparently shows linkage disequilibrium with a rare haplotype in normal chromosomes, strongly suggesting that it is a common founder mutation. These findings represent the first extensive analysis of CIPA mutations and associated intragenic polymorphisms; they should facilitate the detection of CIPA mutations and aid in the diagnosis and genetic counseling of this painless but severe genetic disorder with devastating complications.", "subitem_description_type": "Other"}]}, "item_16_publisher_36": {"attribute_name": "出版者", "attribute_value_mlt": [{"subitem_publisher": "Springer"}]}, "item_16_relation_11": {"attribute_name": "DOI", "attribute_value_mlt": [{"subitem_relation_type": "isVersionOf", "subitem_relation_type_id": {"subitem_relation_type_id_text": "10.1007/s004390051018", "subitem_relation_type_select": "DOI"}}]}, "item_16_relation_16": {"attribute_name": "情報源(ISSN)", "attribute_value_mlt": [{"subitem_relation_name": [{"subitem_relation_name_text": "03406717"}]}]}, "item_16_relation_53": {"attribute_name": "著作の一部", "attribute_value_mlt": [{"subitem_relation_name": [{"subitem_relation_name_text": "http://www.springerlink.com/content/100421/"}]}]}, "item_16_source_id_9": {"attribute_name": "書誌レコードID", "attribute_value_mlt": [{"subitem_source_identifier": "AA0066617X", "subitem_source_identifier_type": "NCID"}]}, "item_16_subject_20": {"attribute_name": "日本十進分類法", "attribute_value_mlt": [{"subitem_subject": "493.937", "subitem_subject_scheme": "NDC"}]}, "item_16_text_18": {"attribute_name": "形態", "attribute_value_mlt": [{"subitem_text_value": "644691 bytes"}]}, "item_16_text_47": {"attribute_name": "資源タイプ・ローカル", "attribute_value_mlt": [{"subitem_text_value": "雑誌掲載論文"}]}, "item_16_text_48": {"attribute_name": "資源タイプ・NII", "attribute_value_mlt": [{"subitem_text_value": "Journal Article"}]}, "item_16_text_49": {"attribute_name": "資源タイプ・DCMI", "attribute_value_mlt": [{"subitem_text_value": "text"}]}, "item_16_text_50": {"attribute_name": "資源タイプ・ローカル表示コード", "attribute_value_mlt": [{"subitem_text_value": "01"}]}, "item_16_text_76": {"attribute_name": "URI", "attribute_value_mlt": [{"subitem_text_value": "http://hdl.handle.net/2298/9175"}]}, "item_16_text_78": {"attribute_name": "コメント", "attribute_value_mlt": [{"subitem_text_value": "The original publication is available at www.springerlink.com"}]}, "item_16_text_79": {"attribute_name": "ローカルコメント", "attribute_value_mlt": [{"subitem_text_value": "メール投稿"}]}, "item_16_version_type_19": {"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_creator": {"attribute_name": "著者", "attribute_type": "creator", "attribute_value_mlt": [{"creatorAffiliations": [{"affiliationNameIdentifiers": [{"affiliationNameIdentifier": "", "affiliationNameIdentifierScheme": "ISNI", "affiliationNameIdentifierURI": "http://www.isni.org/isni/"}], "affiliationNames": [{"affiliationName": "", "affiliationNameLang": "ja"}]}], "creatorNames": [{"creatorName": "三浦, 裕一", "creatorNameLang": "ja"}, {"creatorName": "ミウラ, ユウイチ", "creatorNameLang": "ja-Kana"}, {"creatorName": "Miura, Yuichi", "creatorNameLang": "en"}], "familyNames": [{"familyName": "三浦", "familyNameLang": "ja"}, {"familyName": "ミウラ", "familyNameLang": "ja-Kana"}, {"familyName": "Miura", "familyNameLang": "en"}], "givenNames": [{"givenName": "裕一", "givenNameLang": "ja"}, {"givenName": "ユウイチ", "givenNameLang": "ja-Kana"}, {"givenName": "Yuichi", "givenNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "103213", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Mardy, Sek"}], "nameIdentifiers": [{"nameIdentifier": "93058", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Awaya, Yutaka"}], "nameIdentifiers": [{"nameIdentifier": "93059", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Nihei, Kenji"}], "nameIdentifiers": [{"nameIdentifier": "93060", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Endo, Fumio"}], "nameIdentifiers": [{"nameIdentifier": "93061", "nameIdentifierScheme": "WEKO"}]}, {"creatorAffiliations": [{"affiliationNameIdentifiers": [{"affiliationNameIdentifier": "", "affiliationNameIdentifierScheme": "ISNI", "affiliationNameIdentifierURI": "http://www.isni.org/isni/"}], "affiliationNames": [{"affiliationName": "", "affiliationNameLang": "ja"}]}], "creatorNames": [{"creatorName": "松田, 一郎", "creatorNameLang": "ja"}, {"creatorName": "マツダ, イチロウ", "creatorNameLang": "ja-Kana"}, {"creatorName": "Matsuda, Ichiro", "creatorNameLang": "en"}], "familyNames": [{"familyName": "松田", "familyNameLang": "ja"}, {"familyName": "マツダ", "familyNameLang": "ja-Kana"}, {"familyName": "Matsuda", "familyNameLang": "en"}], "givenNames": [{"givenName": "一郎", "givenNameLang": "ja"}, {"givenName": "イチロウ", "givenNameLang": "ja-Kana"}, {"givenName": "Ichiro", "givenNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "150497", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Indo, Yasuhiro"}], "nameIdentifiers": [{"nameIdentifier": "93063", "nameIdentifierScheme": "WEKO"}]}]}, "item_files": {"attribute_name": "ファイル情報", "attribute_type": "file", "attribute_value_mlt": [{"accessrole": "open_date", "date": [{"dateType": "Available", "dateValue": "2020-03-02"}], "displaytype": "detail", "download_preview_message": "", "file_order": 0, "filename": "Reposit-HG-00aYI.pdf", "filesize": [{"value": "644.7 kB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensetype": "license_free", "mimetype": "application/pdf", "size": 644700.0, "url": {"label": "Reposit-HG-00aYI.pdf", "url": "https://kumadai.repo.nii.ac.jp/record/21616/files/Reposit-HG-00aYI.pdf"}, "version_id": "190d18da-2230-4c3e-b2a8-47f607b42c3f"}]}, "item_keyword": {"attribute_name": "キーワード", "attribute_value_mlt": [{"subitem_subject": "congenital insensitivity to pain with anhidrosis", "subitem_subject_scheme": "Other"}, {"subitem_subject": "hereditary sensory and autonomic neuropathy type IV", "subitem_subject_scheme": "Other"}, {"subitem_subject": "nerve growth factor", "subitem_subject_scheme": "Other"}, {"subitem_subject": "NGF", "subitem_subject_scheme": "Other"}, {"subitem_subject": "nerve growth factor receptor", "subitem_subject_scheme": "Other"}, {"subitem_subject": "receptor tyrosine kinase for NGF", "subitem_subject_scheme": "Other"}, {"subitem_subject": "TRKA gene", "subitem_subject_scheme": "Other"}, {"subitem_subject": "NTRK1 gene", "subitem_subject_scheme": "Other"}, {"subitem_subject": "先天性無痛無汗症", "subitem_subject_scheme": "Other"}, {"subitem_subject": "遺伝性感覚自律神経性ニューロパシー IV 型", "subitem_subject_scheme": "Other"}, {"subitem_subject": "神経成長因子", "subitem_subject_scheme": "Other"}, {"subitem_subject": "神経成長因子受容体", "subitem_subject_scheme": "Other"}, {"subitem_subject": "チロシンキナーゼ型神経成長因子受容体", "subitem_subject_scheme": "Other"}, {"subitem_subject": "TRKA 遺伝子", "subitem_subject_scheme": "Other"}, {"subitem_subject": "NTRK1 遺伝子", "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": "Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families", "item_titles": {"attribute_name": "タイトル", "attribute_value_mlt": [{"subitem_title": "Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families"}]}, "item_type_id": "16", "owner": "1", "path": ["443"], "permalink_uri": "http://hdl.handle.net/2298/9175", "pubdate": {"attribute_name": "公開日", "attribute_value": "2008-08-13"}, "publish_date": "2008-08-13", "publish_status": "0", "recid": "21616", "relation": {}, "relation_version_is_last": true, "title": ["Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families"], "weko_shared_id": -1}
Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families
http://hdl.handle.net/2298/9175
http://hdl.handle.net/2298/9175338e9913-b600-4613-b513-4604f37c7b4e
名前 / ファイル | ライセンス | アクション |
---|---|---|
Reposit-HG-00aYI.pdf (644.7 kB)
|
|
Item type | 学術雑誌論文 / Journal Article(1) | |||||
---|---|---|---|---|---|---|
公開日 | 2008-08-13 | |||||
タイトル | ||||||
タイトル | Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題 | congenital insensitivity to pain with anhidrosis, hereditary sensory and autonomic neuropathy type IV, nerve growth factor, NGF, nerve growth factor receptor, receptor tyrosine kinase for NGF, TRKA gene, NTRK1 gene, 先天性無痛無汗症, 遺伝性感覚自律神経性ニューロパシー IV 型, 神経成長因子, 神経成長因子受容体, チロシンキナーゼ型神経成長因子受容体, TRKA 遺伝子, NTRK1 遺伝子 | |||||
資源タイプ | ||||||
資源タイプ | journal article | |||||
著者 |
三浦, 裕一
× 三浦, 裕一× Mardy, Sek× Awaya, Yutaka× Nihei, Kenji× Endo, Fumio× 松田, 一郎× Indo, Yasuhiro |
|||||
別言語の著者 |
犬童, 康弘
× 犬童, 康弘 |
|||||
内容記述 | ||||||
内容記述 | The human TRKA gene encodes a high-affinity tyrosine kinase receptor for nerve growth factor. Congenital insensitivity to pain with anhidrosis (CIPA) is an autosomal recessive genetic disorder reported from various countries and characterized by anhidrosis (inability to sweat), the absence of reaction to noxious stimuli, and mental retardation. We have found that TRKA is the gene responsible for CIPA. We have studied TRKA in 46 CIPA chromosomes derived from 23 unrelated Japanese CIPA families, including three that have been previously reported, and identified 11 novel mutations. Four (L93P, G516R, R648 C, and D668Y) are missense mutations that result in amino acid substitutions at positions conserved in the TRK family, including TRKA, TRKB, and TRKC. Three (S131 fs, L579 fs, and D770 fs) are frameshift mutations. Three (E164X, Y359X, and R596X) are nonsense mutations. The other is an intronic branch-site (IVS7-33TMA) mutation, causing aberrant splicing in vitro. We also report the characterization of eight intragenic polymorphic sites, including a variable dinucleotide repeat and seven single nucleotide polymorphisms, and describe the haplotypic associations of alleles at these sites in 106 normal chromosomes and 46 CIPA chromosomes. More than 50% of CIPA chromosomes share the frameshift mutation (R548 fs) that we described earlier. This mutation apparently shows linkage disequilibrium with a rare haplotype in normal chromosomes, strongly suggesting that it is a common founder mutation. These findings represent the first extensive analysis of CIPA mutations and associated intragenic polymorphisms; they should facilitate the detection of CIPA mutations and aid in the diagnosis and genetic counseling of this painless but severe genetic disorder with devastating complications. | |||||
書誌情報 |
Human Genetics 巻 106, 号 1, p. 116-124, 発行年 2000-01 |
|||||
書誌レコードID | ||||||
収録物識別子 | AA0066617X | |||||
DOI | ||||||
関連タイプ | isVersionOf | |||||
関連識別子 | 10.1007/s004390051018 | |||||
情報源(ISSN) | ||||||
関連名称 | 03406717 | |||||
フォーマット | ||||||
内容記述 | application/pdf | |||||
形態 | ||||||
644691 bytes | ||||||
著者版フラグ | ||||||
出版タイプ | AM | |||||
日本十進分類法 | ||||||
主題 | 493.937 | |||||
出版者 | ||||||
出版者 | Springer | |||||
資源タイプ | ||||||
内容記述 | 論文(Article) | |||||
資源タイプ・ローカル | ||||||
雑誌掲載論文 | ||||||
資源タイプ・NII | ||||||
Journal Article | ||||||
資源タイプ・DCMI | ||||||
text | ||||||
資源タイプ・ローカル表示コード | ||||||
01 | ||||||
著作の一部 | ||||||
関連名称 | http://www.springerlink.com/content/100421/ | |||||
コメント | ||||||
The original publication is available at www.springerlink.com |