{"_buckets": {"deposit": "8fdcd137-2f1d-4469-8a77-19030a7abc9c"}, "_deposit": {"id": "3919", "owners": [], "pid": {"revision_id": 0, "type": "depid", "value": "3919"}, "status": "published"}, "_oai": {"id": "oai:soar-ir.repo.nii.ac.jp:00003919"}, "item_6_biblio_info_6": {"attribute_name": "\u66f8\u8a8c\u60c5\u5831", "attribute_value_mlt": [{"bibliographicIssueDates": {"bibliographicIssueDate": "2010-06", "bibliographicIssueDateType": "Issued"}, "bibliographicPageEnd": "223", "bibliographicPageStart": "213", "bibliographicVolumeNumber": "104", "bibliographic_titles": [{"bibliographic_title": "Thrombosis and Haemostasis"}]}]}, "item_6_description_19": {"attribute_name": "\u5185\u5bb9\u8a18\u8ff0", "attribute_value_mlt": [{"subitem_description": "This article is not an exact copy of the original published article in THROMBOSIS AND HAEMOSTASIS. The definitive publisher-authenticated version of THROMBOSIS AND HAEMOSTASIS. 104(2):213-223 (2010) is available online at: http://dx.doi.org/10.1160/TH09-08-0540 .", "subitem_description_type": "Other"}]}, "item_6_description_20": {"attribute_name": "\u6284\u9332", "attribute_value_mlt": [{"subitem_description": "We found a novel hypofibrinogenemia designated as Matsumoto VII (M-VII), which is caused by a heterozygous nucleotide deletion at position g.7651 in FGG and a subsequent frameshift mutation in codon 387 of the \u03b3-chain. This frameshift results in 25 amino acid substitutions, late termination of translation with elongation by 15 amino acids, and the introduction of a canonical glycosylation site. Western blot analysis of the patient\u2019s plasma fibrinogen visualized with anti-\u03b3-chain antibody revealed the presence of two extra bands. To identify the extra bands and determine which of the above-mentioned alterations caused the assembly and/or secretion defects in the patient, 11 variant vectors that introduced mutations into the cDNA of the \u03b3-chain or\u03b3\u2019-chain were transfected into CHO cells. In vitro expression of transfectants containing\u03b3\u03947651A and \u03b3\u03947651A/399T (\u03b3\u03947651A with an amino acid substitution of 399Asn by Thr and a variant lacking the canonical glycosylation site) demonstrated a reduction in secretion to approximately 20% of the level seen in the transfectants carrying the normal \u03b3-chain. Furthermore, results from other transfectants demonstrated that 8 aberrant residues between 391 and 398 of the M-VII variant, rather than the 15 amino acid extension or the additional glycosylation, are responsible for the reduced levels of assembly and secretion of M-VII variant fibrinogen. Finally, the results of this study and our previous reports demonstrate that the fibrinogen \u03b3-chain C-terminal tail (388-411) is not necessary for protein assembly or secretion, but the aberrant amino acid sequence observed in the M-VII variant (especially 391-398) disturbs these functions.", "subitem_description_type": "Abstract"}]}, "item_6_description_30": {"attribute_name": "\u8cc7\u6e90\u30bf\u30a4\u30d7\uff08\u30b3\u30f3\u30c6\u30f3\u30c4\u306e\u7a2e\u985e\uff09", "attribute_value_mlt": [{"subitem_description": "Article", "subitem_description_type": "Other"}]}, "item_6_description_31": {"attribute_name": "\u30d5\u30a9\u30fc\u30de\u30c3\u30c8\uff1amime\u30bf\u30a4\u30d7", "attribute_value_mlt": [{"subitem_description": "application/pdf", "subitem_description_type": "Other"}]}, "item_6_description_5": {"attribute_name": "\u5f15\u7528", "attribute_value_mlt": [{"subitem_description": "THROMBOSIS AND HAEMOSTASIS. 104(2):213-223 (2010)", "subitem_description_type": "Other"}]}, "item_6_link_3": {"attribute_name": "\u4fe1\u5dde\u5927\u5b66\u7814\u7a76\u8005\u7dcf\u89a7\u3078\u306e\u30ea\u30f3\u30af", "attribute_value_mlt": [{"subitem_link_text": "Ishida, Fumihiro", "subitem_link_url": "http://soar-rd.shinshu-u.ac.jp/profile/ja.ueTCHhkh.html"}, {"subitem_link_text": "Okumura, Nobuo", "subitem_link_url": "http://soar-rd.shinshu-u.ac.jp/profile/ja.OVnmgCkh.html"}]}, "item_6_link_67": {"attribute_name": "WoS", "attribute_value_mlt": [{"subitem_link_text": "Web of Science", "subitem_link_url": "http://gateway.isiknowledge.com/gateway/Gateway.cgi?\u0026GWVersion=2\u0026SrcAuth=ShinshuUniv\u0026SrcApp=ShinshuUniv\u0026DestLinkType=FullRecord\u0026DestApp=WOS\u0026KeyUT=000281067800006"}]}, "item_6_publisher_4": {"attribute_name": "\u51fa\u7248\u8005", "attribute_value_mlt": [{"subitem_publisher": "Schattauer"}]}, "item_6_relation_47": {"attribute_name": "PubMed", "attribute_value_mlt": [{"subitem_relation_name": [{"subitem_relation_name_text": "20589319"}], "subitem_relation_type_id": {"subitem_relation_type_id_text": "http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search\u0026DB=pubmed\u0026term=20589319", "subitem_relation_type_select": "PMID"}}]}, "item_6_relation_48": {"attribute_name": "DOI", "attribute_value_mlt": [{"subitem_relation_name": [{"subitem_relation_name_text": "10.1160/TH09-08-0540"}], "subitem_relation_type_id": {"subitem_relation_type_id_text": "http://dx.doi.org/10.1160/TH09-08-0540", "subitem_relation_type_select": "DOI"}}]}, "item_6_rights_62": {"attribute_name": "\u6a29\u5229", "attribute_value_mlt": [{"subitem_rights": "Copyright (c) 2010 Schattauer Publishers"}]}, "item_6_select_64": {"attribute_name": "\u8457\u8005\u7248\u30d5\u30e9\u30b0", "attribute_value_mlt": [{"subitem_select_item": "author"}]}, "item_6_source_id_35": {"attribute_name": "ISSN", "attribute_value_mlt": [{"subitem_source_identifier": "0340-6245", "subitem_source_identifier_type": "ISSN"}]}, "item_6_source_id_39": {"attribute_name": "NII ISSN", "attribute_value_mlt": [{"subitem_source_identifier": "0340-6245", "subitem_source_identifier_type": "ISSN"}]}, "item_6_source_id_40": {"attribute_name": "\u66f8\u8a8c\u30ec\u30b3\u30fc\u30c9ID", "attribute_value_mlt": [{"subitem_source_identifier": "AA00863137", "subitem_source_identifier_type": "NCID"}]}, "item_6_text_69": {"attribute_name": "wosonly authkey", "attribute_value_mlt": [{"subitem_text_value": "Hypofibrinogenaemia; nucleotide deletion; frameshift mutation; assembly; secretion"}]}, "item_6_text_70": {"attribute_name": "wosonly keywords", "attribute_value_mlt": [{"subitem_text_value": "VARIANT FIBRINOGEN; RECOMBINANT FIBRINOGEN; LATERAL AGGREGATION; SECRETION; FRAGMENT; DELETION; PROTEIN; SEGMENT; SHOWS"}]}, "item_6_textarea_68": {"attribute_name": "wosonly abstract", "attribute_value_mlt": [{"subitem_textarea_value": "We found a novel hypofibrinogenemia designated as Matsumoto VII (M-VII), which is caused by a heterozygous nucleotide deletion at position g.7651 in FGG and a subsequent frameshift mutation in codon 387 of the gamma-chain. This frameshift results in 25 amino acid substitutions, late termination of translation with elongation by 15 amino acids, and the introduction of a canonical glycosylation site. Western blot analysis of the patient\u0027s plasma fibrinogen visualised with anti-gamma-chain antibody revealed the presence of two extra bands. To identify the extra bands and determine which of the above-mentioned alterations caused the assembly and/or secretion defects in the patient, 11 variant vectors that introduced mutations into the cDNA of the gamma-chain or gamma\u0027-chain were transfected into Chinese hamster ovary cells. In vitro expression of transfectants containing gamma Delta 7651A and gamma Delta 7651A/399T (gamma Delta 7651A with an amino acid substitution of 399Asn by Thr and a variant lacking the canonical glycosylation site) demonstrated a reduction in secretion to approximately 20% of the level seen in the transfectants carrying the normal gamma-chain. Furthermore, results from other transfectants demonstrated that eight aberrant residues between 391 and 398 of the M-VII variant, rather than the 15 amino acid extension or the additional glycosylation, are responsible for the reduced levels of assembly and secretion of M-VII variant fibrinogen. Finally, the results of this study and our previous reports demonstrate that the fibrinogen gamma-chain C-terminal tail (388-411) is not necessary for protein assembly or secretion, but the aberrant amino acid sequence observed in the M-VII variant (especially 391-398) disturbs these functions."}]}, "item_creator": {"attribute_name": "\u8457\u8005", "attribute_type": "creator", "attribute_value_mlt": [{"creatorNames": [{"creatorName": "Fujihara,  Noriko"}], "nameIdentifiers": [{"nameIdentifier": "8006", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Haneishi,  Ayumi"}], "nameIdentifiers": [{"nameIdentifier": "8007", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Yamauchi,  Kazuyoshi"}], "nameIdentifiers": [{"nameIdentifier": "8008", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Terasawa,  Fumiko"}], "nameIdentifiers": [{"nameIdentifier": "8009", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Ito,  Toshiro"}], "nameIdentifiers": [{"nameIdentifier": "8010", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Ishida,  Fumihiro"}], "nameIdentifiers": [{"nameIdentifier": "8011", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Okumura,  Nobuo"}], "nameIdentifiers": [{"nameIdentifier": "8012", "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": "2015-09-24"}], "displaytype": "detail", "download_preview_message": "", "file_order": 0, "filename": "C-terminal_amino_acid_substitution.pdf", "filesize": [{"value": "838.3 kB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensetype": "license_free", "mimetype": "application/pdf", "size": 838300.0, "url": {"label": "C-terminal_amino_acid_substitution.pdf", "url": "https://soar-ir.repo.nii.ac.jp/record/3919/files/C-terminal_amino_acid_substitution.pdf"}, "version_id": "5518fb42-1b46-450b-a26e-4eb526f6e88e"}]}, "item_keyword": {"attribute_name": "\u30ad\u30fc\u30ef\u30fc\u30c9", "attribute_value_mlt": [{"subitem_subject": "hypofibrinogenemia", "subitem_subject_scheme": "Other"}, {"subitem_subject": "nucleotide deletion", "subitem_subject_scheme": "Other"}, {"subitem_subject": "frameshift mutation", "subitem_subject_scheme": "Other"}, {"subitem_subject": "assembly", "subitem_subject_scheme": "Other"}, {"subitem_subject": "secretion", "subitem_subject_scheme": "Other"}]}, "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": "A C-terminal amino acid substitution in the gamma-chain caused by a novel heterozygous frameshift mutation (Fibrinogen Matsumoto VII) results in hypofibrinogenemia", "item_titles": {"attribute_name": "\u30bf\u30a4\u30c8\u30eb", "attribute_value_mlt": [{"subitem_title": "A C-terminal amino acid substitution in the gamma-chain caused by a novel heterozygous frameshift mutation (Fibrinogen Matsumoto VII) results in hypofibrinogenemia"}]}, "item_type_id": "6", "owner": "1", "path": ["461/462"], "permalink_uri": "http://hdl.handle.net/10091/10294", "pubdate": {"attribute_name": "\u516c\u958b\u65e5", "attribute_name_i18n": "\u516c\u958b\u65e5", "attribute_value": "2010-08-19"}, "publish_date": "2010-08-19", "publish_status": "0", "recid": "3919", "relation": {}, "relation_version_is_last": true, "title": ["A C-terminal amino acid substitution in the gamma-chain caused by a novel heterozygous frameshift mutation (Fibrinogen Matsumoto VII) results in hypofibrinogenemia"], "weko_shared_id": null}