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A novel frameshift mutation in the fibrinogen γC terminal region, FGG c.1169_1170 del AT, leading to hypofibrinogenemia
No full textArticleTHROMBOSIS RESEARCH.159:82-85(2017)journal articl
A Novel Mutation in the Fibrinogen Bβ Chain (c.490G>A; End of Exon 3) Causes a Splicing Abnormality and Ultimately Leads to Congenital Hypofibrinogenemia
No full textWe found a novel heterozygous mutation in the fibrinogen Bβ chain (c.490G>A) of a 3-year-old girl with congenital hypofibrinogenemia. To clarify the complex genetic mechanism, we made a mini-gene including a FGB c.490G>A mutation region, transfected it into a Chinese Hamster Ovary (CHO) cell line, and analyzed reverse transcription (RT) products. The assembly process and secretion were examined using recombinant mutant fibrinogen. Direct sequencing demonstrated that the mutant RT product was 99 bp longer than the wild-type product, and an extra 99 bases were derived from intron 3. In recombinant expression, a mutant Bβ-chain was weakly detected in the transfected CHO cell line, and aberrant fibrinogen was secreted into culture media; however, an aberrant Bβ-chain was not detected in plasma. Since the aberrant Bβ-chain was catabolized faster in cells, the aberrant Bβ-chain in a small amount of secreted fibrinogen may catabolize in the bloodstream. FGB c.490G>A indicated the activation of a cryptic splice site causing the insertion of 99 bp in intron 3. This splicing abnormality led to the production of a Bβ-chain possessing 33 aberrant amino acids, including two Cys residues in the coiled-coil domain. Therefore, a splicing abnormality may cause impaired fibrinogen assembly and secretion.ArticleINTERNATIONAL JOURNAL OF MOLECULAR SCIENCES.18:2470(2017)journal articl
Hereditary Fibrinogen Aα-Chain Amyloidosis in Asia: Clinical and Molecular Characteristics
No full textHereditary fibrinogen Aα-chain amyloidosis (Aα-chain amyloidosis) is a type of autosomal dominant systemic amyloidosis caused by mutations in fibrinogen Aα-chain gene (FGA). Patients with Aα-chain amyloidosis have been mainly reported in Western countries but have been rarely reported in Asia, with only five patients with Aα-chain amyloidosis being reported in Korea, China, and Japan. Clinically, the most prominent manifestation in Asian patients with Aα-chain amyloidosis is progressive nephropathy caused by excessive amyloid deposition in the glomeruli, which is similar to that observed in patients with Aα-chain amyloidosis in Western countries. In molecular features in Asian Aα-chain amyloidosis, the most common variant, E526V, was found in only one Chinese kindred, and other four kindred each had a different variant, which have not been identified in other countries. These variants are located in the C-terminal region (amino acid residues 517–555) of mature Aα-chain, which was similar to that observed in patients with Aα-chain amyloidosis in other countries. The precise number of Asian patients with Aα-chain amyloidosis is unclear. However, patients with Aα-chain amyloidosis do exist in Asian countries, and the majority of these patients may be diagnosed with other types of systemic amyloidosis.ArticleINTERNATIONAL JOURNAL OF MOLECULAR SCIENCES.19:320(2018)journal articl
Assessment of Depressive Tendency,Coping Strategies,and Type D Personality in Japanese Patients with Coronary Artery Disease （日本人の冠状動脈疾患患者における抑うつ傾向、コーピング方略、およびタイプDパーソナリティに関する検討）
No full text信州大学(Shinshu university)博士（保健学）雑誌に発表。SHINSHU MEDICAL JOURNAL. 68(2):97-105 (2020); doi:10.11441/shinshumedj.68.97.Thesis山口 大輔. Assessment of Depressive Tendency,Coping Strategies,and Type D Personality in Japanese Patients with Coronary Artery Disease （日本人の冠状動脈疾患患者における抑うつ傾向、コーピング方略、およびタイプDパーソナリティに関する検討）. 信州大学, 2020, 博士論文.doctoral thesi
裾花川の石油湧出地点より単離したバクテリア(Acinetobacter beijerinckii susohanaR)の石油分解能
No full text長野市北部を流れる裾花川の川底の石油湧出地点から採取した砂より,石油を分解するバクテリアを単離することに成功した. その球菌は唯一の炭素源としてA 重油を用いた培地で培養が可能であった. 16S rDNA による系統解析, 形態観察, 細菌学的特性試験から, そのバクテリアはAcinetobacter beijerinckii の近縁種であることが明らかになった. また, Acinetobacter beijerinckii の標準株と形状およびいくつかの生理・生化学的性状試験の結果が異なっていたこと, さらに次世代DNA シーケンスの結果から, このバクテリアをAcinetobacter beijerinckii の新株であると結論づけ,Aceinetobacter beijerinckii susohanaR 株 (SHR)とした. 軽油を加えた培地において6日間, SHR を培養したところ, 軽油中のn-アルカンを81%分解した. また, SHR は高い乳化活性を有しており, バイオサーファクタントを産生していると考えられた.Article環境科学年報 42:92-99(2020)journal articl
Clinical features of IgG4-related periaortitis/periarteritis based on the analysis of 179 patients with IgG4-related disease: a case-control study （IgG4関連疾患179名の解析によるIgG4関連動脈周囲炎の臨床的特徴の解明）
No full text信州大学(Shinshu university)博士（医学）雑誌に発表。ARTHRITIS RESEARCH & THERAPY. 19:223 (2017); doi:10.1186/s13075-017-1432-8.Thesis小澤 真希子. Clinical features of IgG4-related periaortitis/periarteritis based on the analysis of 179 patients with IgG4-related disease: a case-control study （IgG4関連疾患179名の解析によるIgG4関連動脈周囲炎の臨床的特徴の解明）. 信州大学, 2020, 博士論文.doctoral thesi
Organ accumulation and carcinogenicity of highly dispersed multi-walled carbon nanotubes administered intravenously in transgenic rasH2 mice （遺伝子改変rasH2マウスを用いた高分散した多層カーボンナノチューブの静脈内投与による臓器集積と発癌性評価）
No full text信州大学(Shinshu university)博士（医学）雑誌に発表。INTERNATIONAL JOURNAL OF NANOMEDICINE. 14:6465-6480 (2019); doi:10.2147/IJN.S208129.Thesis傍島 淳. Organ accumulation and carcinogenicity of highly dispersed multi-walled carbon nanotubes administered intravenously in transgenic rasH2 mice （遺伝子改変rasH2マウスを用いた高分散した多層カーボンナノチューブの静脈内投与による臓器集積と発癌性評価）. 信州大学, 2020, 博士論文.doctoral thesi
Deficiency of the adrenomedullin-RAMP3 system suppresses metastasis through modification of cancer-associated fibroblasts （アドレノメデュリン(AM)-RAMP3系の欠損は、癌関連線維芽細胞の性質を変化させ、臓器間転移を抑制する）
No full text信州大学(Shinshu university)博士（医学）雑誌に発表。ONCOGENE. 39(9):1914-1930 (2020); doi:10.1038/s41388-019-1112-z.Thesis戴 昆. Deficiency of the adrenomedullin-RAMP3 system suppresses metastasis through modification of cancer-associated fibroblasts （アドレノメデュリン(AM)-RAMP3系の欠損は、癌関連線維芽細胞の性質を変化させ、臓器間転移を抑制する）. 信州大学, 2020, 博士論文.doctoral thesi
Prognostic Impact of Cardio-renal-anemia Syndrome in Patients at Risk for Heart Failure from the IMPACT-ABI study
No full textArticle信州医学雑誌 68(3): 139-147(2020)journal articl