{"created":"2023-06-19T09:10:09.047809+00:00","id":21617,"links":{},"metadata":{"_buckets":{"deposit":"6b0f631a-2a86-4706-b14b-34faed11bb8d"},"_deposit":{"created_by":1,"id":"21617","owners":[1],"pid":{"revision_id":0,"type":"depid","value":"21617"},"status":"published"},"_oai":{"id":"oai:kumadai.repo.nii.ac.jp:00021617","sets":["413:443"]},"author_link":["93073","93069","93070","93074","93163","103213","93068","93071","93072","150497","93076","93067","93078","93075"],"item_16_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2000-09","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"3","bibliographicPageEnd":"209","bibliographicPageStart":"205","bibliographicVolumeNumber":"107","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":"Uniparental disomy (UPD) is defined as the presence of a chromosome pair that derives from only one parent in a diploid individual. The human TRKA gene on chromosome 1q21-q22 encodes a receptor tyrosine kinase for nerve growth factor and is responsible for an autosomal recessive genetic disorder: congenital insensitivity to pain with anhidrosis (CIPA). We report here the second case of paternal UPD for chromosome 1 in a male patient with CIPA who developed normally at term and did not show overt dysmorphisms or malformations. He had only the usual features of CIPA with a homozygous mutation at the TRKA locus and a normal karyotype with no visible deletions or evidence of monosomy 1. Haplotype analysis of the TRKA locus and allelotype analyses of whole chromosome 1 revealed that the chromosome pair was exclusively derived from his father. Non-maternity was excluded by analyses of autosomes other than chromosome 1. Thus, we have identified a complete paternal isodisomy for chromosome 1 as the cause of reduction to homozygosity of the TRKA gene mutation, leading to CIPA. Our findings further support the idea that there are no paternally imprinted genes on chromosome 1 with a major effect on phenotype. UPD must be considered as a rare but possible cause of autosomal recessive disorders when conducting genetic testing.","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/s004390000369","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":"335879 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Fumio"}],"nameIdentifiers":[{"nameIdentifier":"93076","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":"93078","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","filename":"Reposit-HG-00bYI.pdf","filesize":[{"value":"335.9 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"Reposit-HG-00bYI.pdf","url":"https://kumadai.repo.nii.ac.jp/record/21617/files/Reposit-HG-00bYI.pdf"},"version_id":"2580080a-640f-4025-8be2-4df1087d39f7"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"uniparental disomy","subitem_subject_scheme":"Other"},{"subitem_subject":"chromosome 1","subitem_subject_scheme":"Other"},{"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":"片親性ダイソミー","subitem_subject_scheme":"Other"},{"subitem_subject":"１番染色体","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":"Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis"}]},"item_type_id":"16","owner":"1","path":["443"],"pubdate":{"attribute_name":"公開日","attribute_value":"2008-08-18"},"publish_date":"2008-08-18","publish_status":"0","recid":"21617","relation_version_is_last":true,"title":["Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis"],"weko_creator_id":"1","weko_shared_id":-1},"updated":"2023-09-13T09:06:14.147932+00:00"}