検索結果 55 件
| フルテキストURL | fulltext.pdf |
|---|---|
| 著者 | Matsushima, Ryo| Hisano, Hiroshi| Kim, June-Sik| McNelly, Rose| Oitome, Naoko F.| Seung, David| Fujita, Naoko| Sato, Kazuhiro| |
| 備考 | The version of record of this article, first published in Theoretical and Applied Genetics, is available online at Publisher’s website: http://dx.doi.org/10.1007/s00122-024-04725-7| |
| 発行日 | 2024-08-31 |
| 出版物タイトル | Theoretical and Applied Genetics |
| 巻 | 137巻 |
| 号 | 9号 |
| 出版者 | Springer Science and Business Media LLC |
| 開始ページ | 212 |
| ISSN | 0040-5752 |
| NCID | AA00862655 |
| 資料タイプ | 学術雑誌論文 |
| 言語 | 英語 |
| OAI-PMH Set | 岡山大学 |
| 著作権者 | © The Author(s) 2024 |
| 論文のバージョン | publisher |
| PubMed ID | 39217239 |
| DOI | 10.1007/s00122-024-04725-7 |
| Web of Science KeyUT | 001303631100001 |
| 関連URL | isVersionOf https://doi.org/10.1007/s00122-024-04725-7 |
| フルテキストURL | fulltext.pdf |
|---|---|
| 著者 | Kegoya, Yasuhito| Otani, Yoshihiro| Inoue, Yohei| Mizuta, Ryo| Higaki, Fumiyo| Washio, Kana| Koizumi, Shinichiro| Kurozumi, Kazuhiko| Ishida, Joji| Fujii, Kentaro| Yamamoto, Norio| Tanaka, Yoshihiro| Date, Isao| |
| キーワード | Diffuse hemispheric gliomas, H3 G34-mutation Midline invasion Frontal lobe Gross total resection |
| 備考 | The version of record of this article, first published in Journal of Neuro-Oncology, is available online at Publisher’s website: http://dx.doi.org/10.1007/s11060-024-04587-5| |
| 発行日 | 2024-03-01 |
| 出版物タイトル | Journal of Neuro-Oncology |
| 巻 | 167巻 |
| 号 | 1号 |
| 出版者 | Springer Science and Business Media LLC |
| 開始ページ | 201 |
| 終了ページ | 210 |
| ISSN | 0167-594X |
| NCID | AA10633712 |
| 資料タイプ | 学術雑誌論文 |
| 言語 | 英語 |
| OAI-PMH Set | 岡山大学 |
| 著作権者 | © The Author(s) 2024 |
| 論文のバージョン | publisher |
| PubMed ID | 38427132 |
| DOI | 10.1007/s11060-024-04587-5 |
| Web of Science KeyUT | 001181999000002 |
| 関連URL | isVersionOf https://doi.org/10.1007/s11060-024-04587-5 |
| フルテキストURL | fulltext.pdf |
|---|---|
| 著者 | Okatani, Takeshi| Nishimura, Midori Filiz| Egusa, Yuria| Yoshida, Sayako| Nishimura, Yoshito| Nishikori, Asami| Yoshino, Tadashi| Yamamoto, Hidetaka| Sato, Yasuharu| |
| キーワード | methotrexate-associated lymphoproliferative disorders other iatrogenic immunodeficiency-associated lymphoproliferative disorders lymphoproliferative disorders arising in immune deficiency/dysregulation NOTCH1 |
| 発行日 | 2024 |
| 出版物タイトル | Journal of Clinical and Experimental Hematopathology |
| 巻 | 64巻 |
| 号 | 1号 |
| 出版者 | Japanese Society for Lymphoreticular Tissue Research |
| 開始ページ | 1 |
| 終了ページ | 9 |
| ISSN | 1346-4280 |
| NCID | AA11556796 |
| 資料タイプ | 学術雑誌論文 |
| 言語 | 英語 |
| OAI-PMH Set | 岡山大学 |
| 著作権者 | © 2024 The Japanese Society for Lymphoreticular Tissue Research |
| 論文のバージョン | publisher |
| PubMed ID | 38281745 |
| DOI | 10.3960/jslrt.23038 |
| Web of Science KeyUT | 001155420800001 |
| 関連URL | isVersionOf https://doi.org/10.3960/jslrt.23038 |
| フルテキストURL | fulltext.pdf |
|---|---|
| 著者 | Ohmori, Iori| Ouchida, Mamoru| Shinohara, Masakazu| Kobayashi, Kiyoka| Ishida, Saeko| Mashimo, Tomoji| |
| キーワード | animal model combined generalized and focal epilepsy oxidative stress thioredoxin |
| 発行日 | 2022-05-28 |
| 出版物タイトル | Epilepsia |
| 巻 | 63巻 |
| 号 | 7号 |
| 出版者 | Wiley |
| 開始ページ | e80 |
| 終了ページ | e85 |
| ISSN | 0013-9580 |
| 資料タイプ | 学術雑誌論文 |
| 言語 | 英語 |
| OAI-PMH Set | 岡山大学 |
| 著作権者 | © 2022 The Authors. |
| 論文のバージョン | publisher |
| PubMed ID | 35532890 |
| DOI | 10.1111/epi.17295 |
| Web of Science KeyUT | 000800706600001 |
| 関連URL | isVersionOf https://doi.org/10.1111/epi.17295 |
| JaLCDOI | 10.18926/AMO/65502 |
|---|---|
| フルテキストURL | 77_3_323.pdf |
| 著者 | Makino, Keigo| Otani, Yoshihiro| Fujii, Kentaro| Ishida, Joji| Hirano, Shuichiro | Suruga, Yasuki| Washio, Kana| Nishida, Kenji| Yanai, Hiroyuki| Tomida, Shuta| Ennishi, Daisuke| Date, Isao| |
| 抄録 | In the current World Health Organization classification of central nervous system tumors, comprehensive genetic and epigenetic analyses are considered essential for precise diagnosis. A 14-year-old male patient who presented with a cerebellar tumor was initially diagnosed with glioblastoma and treated with radiation and concomitant temozolomide chemotherapy after resection. During maintenance temozolomide therapy, a new contrast-enhanced lesion developed in the bottom of the cavity formed by the resection. A second surgery was performed, but the histological findings in specimens from the second surgery were different from those of the first surgery. Although genome-wide DNA methylation profiling was conducted using frozen tissue for a precise diagnosis, the proportion of tumor cells was insufficient and only normal cerebellum was observed. We then performed comprehensive genetic analysis using formalin-fixed paraffin-embedded sections, which revealed MYCN amplification without alteration of IDH1, IDH2, or Histone H3. Finally, the patient was diagnosed with pediatric-type diffuse high-grade glioma, H3-wildtype and IDH-wildtype. In conclusion, comprehensive genetic and epigenetic analysis should be considered in pediatric brain tumor cases. |
| キーワード | comprehensive genomic profiling pediatric brain tumor genome-wide DNA methylation MYCN |
| Amo Type | Case Report |
| 出版物タイトル | Acta Medica Okayama |
| 発行日 | 2023-06 |
| 巻 | 77巻 |
| 号 | 3号 |
| 出版者 | Okayama University Medical School |
| 開始ページ | 323 |
| 終了ページ | 330 |
| ISSN | 0386-300X |
| NCID | AA00508441 |
| 資料タイプ | 学術雑誌論文 |
| 言語 | 英語 |
| 著作権者 | Copyright Ⓒ 2023 by Okayama University Medical School |
| 論文のバージョン | publisher |
| 査読 | 有り |
| PubMed ID | 37357634 |
| Web of Science KeyUT | 001025850000001 |
| フルテキストURL | fulltext20230531-1.pdf |
|---|---|
| 著者 | Ohmori, Iori| Ouchida, Mamoru| Imai, Hirohiko| Ishida, Saeko| Toyokuni, Shinya| Mashimo, Tomoji| |
| キーワード | Txn1 Thioredoxin Mitochondria Vacuolar degeneration Epilepsy Oxidative stress |
| 発行日 | 2022-12 |
| 出版物タイトル | Neurobiology of Disease |
| 巻 | 175巻 |
| 出版者 | Elsevier BV |
| 開始ページ | 105921 |
| ISSN | 0969-9961 |
| 資料タイプ | 学術雑誌論文 |
| 言語 | 英語 |
| OAI-PMH Set | 岡山大学 |
| 著作権者 | © 2022 The Author(s). |
| 論文のバージョン | publisher |
| PubMed ID | 36372289 |
| DOI | 10.1016/j.nbd.2022.105921 |
| Web of Science KeyUT | 000984419600001 |
| 関連URL | isVersionOf https://doi.org/10.1016/j.nbd.2022.105921 |
| JaLCDOI | 10.18926/AMO/63907 |
|---|---|
| フルテキストURL | 76_4_473.pdf |
| 著者 | Tsuboi, Nobushige| Ishida, Joji| Shimazu, Yosuke| Edaki, Hisanori| Uneda, Atsuhito| Otani, Yoshihiro| Fujii, Kentaro| Kurozumi, Kazuhiko| Ennishi, Daisuke| Yanai, Hiroyuki| Date, Isao| |
| 抄録 | Glioneuronal tumor with neuropil-like islands (GNTNI) is a very rare subtype of glioneuronal tumor. We present a case of a 62-year-old man with GNTNI. Two adjacent lesions in the left parietal lobe were removed by left parietal craniotomy. The histological findings were glial cell proliferation and scattered rosettes consisting of synaptophysin-positive and NeuN-positive cells, leading to the diagnosis of GNTNI. Target sequencing revealed a genetic alteration similar to glioblastoma, IDH-wild type, which suggested adjuvant therapies. There are few previous reports on the treatment of this disease, and the patient should be followed carefully. |
| キーワード | glioneuronal tumor with neuropil-like islands genomic profiling |
| Amo Type | Case Report |
| 出版物タイトル | Acta Medica Okayama |
| 発行日 | 2022-08 |
| 巻 | 76巻 |
| 号 | 4号 |
| 出版者 | Okayama University Medical School |
| 開始ページ | 473 |
| 終了ページ | 477 |
| ISSN | 0386-300X |
| NCID | AA00508441 |
| 資料タイプ | 学術雑誌論文 |
| 言語 | 英語 |
| 著作権者 | Copyright Ⓒ 2022 by Okayama University Medical School |
| 論文のバージョン | publisher |
| 査読 | 有り |
| PubMed ID | 36123163 |
| JaLCDOI | 10.18926/AMO/62819 |
|---|---|
| フルテキストURL | 75_6_759.pdf |
| 著者 | Shimizu, Dai| Yamamoto, Hiromasa| Shien, Kazuhiko| Taniguchi, Kohei| Miyoshi, Kentaroh| Namba, Kei| Mesaki, Kumi| Sugimoto, Seiichiro| Soh, Junichi| Yamane, Masaomi| Toyooka, Shinichi| |
| 抄録 | Pulmonary enteric adenocarcinoma (PEAC) is a rare subtype of lung cancer that should be differentiated from colorectal cancer metastasis. Little is known about its genetic background. An 84-year-old male with adenocarcinoma of the lung underwent left upper lobectomy. The histology of the surgical specimen was suggestive of PEAC. Gastrointestinal and colorectal fiberscopy revealed no evidence of colorectal cancer. Next-generation sequencing of the tumor identified a G469V substitution in serine/threonine-protein kinase B-raf (BRAF). Based on the higher prevalence of the G469 substitution in BRAF-mutant lung adenocarcinoma than in BRAFmutant colorectal cancer, the tumor likely originated from the lung. Identification of mutational genotype may be of some help in distinguishing PEAC from the lung metastasis of colorectal cancer. |
| キーワード | non-small cell lung cancer somatic mutations pulmonary adenocarcinoma with enteric differentiation non-V600E BRAF mutation next-generation sequencing |
| Amo Type | Case Report |
| 出版物タイトル | Acta Medica Okayama |
| 発行日 | 2021-12 |
| 巻 | 75巻 |
| 号 | 6号 |
| 出版者 | Okayama University Medical School |
| 開始ページ | 759 |
| 終了ページ | 762 |
| ISSN | 0386-300X |
| NCID | AA00508441 |
| 資料タイプ | 学術雑誌論文 |
| 言語 | 英語 |
| 著作権者 | Copyright Ⓒ 2021 by Okayama University Medical School |
| 論文のバージョン | publisher |
| 査読 | 有り |
| PubMed ID | 34955547 |
| Web of Science KeyUT | 000735319800005 |
| NAID | 120007180273 |
| JaLCDOI | 10.18926/AMO/62399 |
|---|---|
| フルテキストURL | 75_4_471.pdf |
| 著者 | Iwamuro, Masaya| Toyokawa, Tatsuya| Matsueda, Kazuhiro| Hori, Shinichiro| Yoshioka, Masao| Moritou, Yuki| Tanaka, Takehiro| Mizuno, Motowo| Okada, Hiroyuki| |
| 抄録 | The characteristics of gastric polyps in patients with Peutz-Jeghers (PJ) syndrome (PJS) have not been fully investigated. The objective of this study was to reveal the endoscopic and pathologic findings of gastric polyps in patients with PJS. We reviewed 11 patients with PJS treated at 6 institutions, and summarized the endo-scopic and pathologic features of their gastric polyps. The polyps were mainly classified into 2 types: (i) soli-tary or sporadic polyps > 5 mm, reddish in color with a sessile or semi-pedunculated morphology (n = 9); and (ii) multiple sessile polyps ≤ 5 mm with the same color tone as the peripheral mucosa (n = 9). Patients who underwent endoscopic mucosal resection for polyps > 5 mm were diagnosed with PJ polyps (n = 2), whereas those who underwent biopsy were diagnosed with hyperplastic polyps. Polyps ≤ 5 mm were pathologically diagnosed as fundic gland polyps or hyperplastic polyps. This study revealed that patients with PJS present with 2 types of polyps in the stomach. Endoscopic mucosal resection of polyps > 5 mm seems necessary for the pathologic diagnosis of PJ polyps. |
| キーワード | Peutz-Jeghers syndrome esophagogastroduodenoscopy gastric polyps |
| Amo Type | Original Article |
| 出版物タイトル | Acta Medica Okayama |
| 発行日 | 2021-08 |
| 巻 | 75巻 |
| 号 | 4号 |
| 出版者 | Okayama University Medical School |
| 開始ページ | 471 |
| 終了ページ | 477 |
| ISSN | 0386-300X |
| NCID | AA00508441 |
| 資料タイプ | 学術雑誌論文 |
| 言語 | 英語 |
| 著作権者 | CopyrightⒸ 2021 by Okayama University Medical School |
| 論文のバージョン | publisher |
| 査読 | 有り |
| PubMed ID | 34511614 |
| Web of Science KeyUT | 000701717000001 |
| NAID | 120007146042 |
| フルテキストURL | fulltext20210902-2.pdf |
|---|---|
| 著者 | Sato, Kazuhiro| Abe, Fumitaka| Mascher, Martin| Haberer, Georg| Gundlach, Heidrun| Spannagl, Manuel| Shirasawa, Kenta| Isobe, Sachiko| |
| キーワード | Triticum aestivum circular consensus sequencing genome assembly pseudomolecules genome editing |
| 発行日 | 2021-7-12 |
| 出版物タイトル | DNA Research |
| 巻 | 28巻 |
| 号 | 3号 |
| 出版者 | Oxford University Press (OUP) |
| 開始ページ | dsab008 |
| ISSN | 1340-2838 |
| 資料タイプ | 学術雑誌論文 |
| 言語 | 英語 |
| OAI-PMH Set | 岡山大学 |
| 著作権者 | (C) The Author(s) 2021 |
| 論文のバージョン | publisher |
| DOI | 10.1093/dnares/dsab008 |
| 関連URL | isVersionOf https://doi.org/10.1093/dnares/dsab008 |
| フルテキストURL | fulltext20210831-5.pdf |
|---|---|
| 著者 | Taketa, Shin| Hattori, Momoko| Takami, Tsuneaki| Himi, Eiko| Sakamoto, Wataru| |
| キーワード | chloroplast GLK2 Hordeum vulgare photosynthesis spike thylakoid |
| 備考 | This is an Accepted Manuscript of an article published by Oxford University Press. This fulltext is available in Jan. 2022.| |
| 発行日 | 2021-1-13 |
| 出版物タイトル | Plant and Cell Physiology |
| 巻 | 62巻 |
| 号 | 3号 |
| 出版者 | Oxford University Press (OUP) |
| 開始ページ | 447 |
| 終了ページ | 457 |
| ISSN | 1471-9053 |
| 資料タイプ | 学術雑誌論文 |
| 言語 | 英語 |
| OAI-PMH Set | 岡山大学 |
| 著作権者 | © 2021 Japanese Society of Plant Physiologists |
| 論文のバージョン | author |
| PubMed ID | 33439257 |
| DOI | 10.1093/pcp/pcab001 |
| Web of Science KeyUT | 000685215500009 |
| 関連URL | isVersionOf https://doi.org/10.1093/pcp/pcab001 |
| フルテキストURL | fulltext.pdf |
|---|---|
| 著者 | Tang, Shaoying| Yonezawa, Tomoko| Maeda, Yukihide| Ono, Mitsuaki| Maeba, Takahiro| Miyoshi, Toru| Momota, Ryusuke| Tomono, Yasuko| Oohashi, Toshitaka| |
| 発行日 | 2021-04-13 |
| 出版物タイトル | PLoS ONE |
| 巻 | 16巻 |
| 号 | 4号 |
| 出版者 | Public Library Science |
| 開始ページ | e0249909 |
| ISSN | 1932-6203 |
| 資料タイプ | 学術雑誌論文 |
| 言語 | 英語 |
| OAI-PMH Set | 岡山大学 |
| 著作権者 | © 2021 Tang et al. |
| 論文のバージョン | publisher |
| PubMed ID | 33848312 |
| NAID | 120007042400 |
| DOI | 10.1371/journal.pone.0249909 |
| Web of Science KeyUT | 000640373500028 |
| 関連URL | isVersionOf https://doi.org/10.1371/journal.pone.0249909 |
| フルテキストURL | fulltext.pdf |
|---|---|
| 著者 | Ishida, Hisashi| Iguchi, Akihiro| Aoe, Michinori| Nishiuchi, Ritsuo| Matsubara, Takehiro| Keino, Dai| Sanada, Masashi| Shimada, Akira| |
| キーワード | leukemia pediatric acute myeloid leukemia molecular genetics precision medicine |
| 発行日 | 2020-11 |
| 出版物タイトル | Biomedical Reports |
| 巻 | 13巻 |
| 号 | 5号 |
| 出版者 | Spandidos Publications |
| 開始ページ | 46 |
| ISSN | 2049-9434 |
| NCID | AA12610729 |
| 資料タイプ | 学術雑誌論文 |
| 言語 | 英語 |
| OAI-PMH Set | 岡山大学 |
| 論文のバージョン | publisher |
| PubMed ID | 32934818 |
| DOI | 10.3892/br.2020.1353 |
| Web of Science KeyUT | 000606302400012 |
| 関連URL | isVersionOf https://doi.org/10.3892/br.2020.1353 |
| フルテキストURL | fulltext.pdf |
|---|---|
| 著者 | Funahashi, Hiroaki| |
| 備考 | International Conference: Improving Tropical Animal Production for Food Security 22-24 November 2019, South East Sulawesi, Indonesia| |
| 発行日 | 2020 |
| 出版物タイトル | IOP Conference Series: Earth and Environmental Science |
| 巻 | 465巻 |
| 出版者 | IOP Publishing |
| 開始ページ | 012001 |
| ISSN | 1755-1307 |
| 資料タイプ | 会議発表論文 |
| 言語 | 英語 |
| OAI-PMH Set | 岡山大学 |
| 論文のバージョン | publisher |
| DOI | 10.1088/1755-1315/465/1/012001 |
| Web of Science KeyUT | 000607205000001 |
| 関連URL | isVersionOf https://doi.org/10.1088/1755-1315/465/1/012001 |
| JaLCDOI | 10.18926/AMO/60372 |
|---|---|
| フルテキストURL | 74_4_335.pdf |
| 著者 | Yamamoto, Yumiko| Hayashi, Yoshihiro| Murakami, Ichiro| |
| 抄録 | Since the discovery of the NAB2-STAT6 gene fusion in 2013, solitary fibrous tumor (SFT) and hemangiopericytoma (HPC) have been considered the same disease. STAT6 nuclear stain is approved as a highly sensitive and specific marker to diagnose SFT/HPC from other tumors with similar histology. As the next step, detection of fusion variants that may predict clinical malignancy of SFT/HPC has been attempted. However, no fusion variants with a clear relation to malignancy have been identified. In this study, the clinical and histological backgrounds of 23 Japanese patients diagnosed with SFT/HPC from 2000 to 2019 at Kochi University Hospital were examined to identify factors potentially related to recurrence. A significant relationship to recurrence was detected for mitosis ≥ 1/10 HPF (400×), necrosis, and Ki-67>5%. These findings indicate that a deliberate investigation of histological features such as mitosis and necrosis is crucial for the clinical observation of SFT/ HPC patients. In addition, Ki-67 was revealed to be a useful parameter to predict recurrence in SFT/HPC patients. |
| キーワード | solitary fibrous tumor hemangiopericytoma Ki-67 NAB2-STAT6 WHO classification WHO grading criteria Marseille Grading System |
| Amo Type | Original Article |
| 出版物タイトル | Acta Medica Okayama |
| 発行日 | 2020-08 |
| 巻 | 74巻 |
| 号 | 4号 |
| 出版者 | Okayama University Medical School |
| 開始ページ | 335 |
| 終了ページ | 343 |
| ISSN | 0386-300X |
| NCID | AA00508441 |
| 資料タイプ | 学術雑誌論文 |
| 言語 | 英語 |
| 著作権者 | CopyrightⒸ 2020 by Okayama University Medical School |
| 論文のバージョン | publisher |
| 査読 | 有り |
| PubMed ID | 32843765 |
| Web of Science KeyUT | 000562508700009 |
| NAID | 120006880211 |
| フルテキストURL | fulltext.pdf |
|---|---|
| 著者 | Yanpirat, Patcha| Nakatsuji, Yukari| Hiraga, Shota| Fujitani, Yoshiko| Izumi, Terumi| Masuda, Sachiko| Mitsui, Ryoji| Nakagawa, Tomoyuki| Tani, Akio| |
| キーワード | lanthanide methylotroph XoxF methanol dehydrogenase Methylobacteriumspecies |
| 発行日 | 2020-05-30 |
| 出版物タイトル | Microorganisms |
| 巻 | 8巻 |
| 号 | 6号 |
| 出版者 | MDPI |
| 開始ページ | 822 |
| ISSN | 2076-2607 |
| 資料タイプ | 学術雑誌論文 |
| 言語 | 英語 |
| OAI-PMH Set | 岡山大学 |
| 著作権者 | © 2020 by the authors. |
| 論文のバージョン | publisher |
| PubMed ID | 32486139 |
| DOI | 10.3390/microorganisms8060822 |
| Web of Science KeyUT | 000549300700001 |
| 関連URL | isVersionOf https://doi.org/10.3390/microorganisms8060822 |
| フルテキストURL | fulltext.pdf |
|---|---|
| 著者 | Morita, Daichi| Takahashi, Eizo| Morita, Masatomo| Ohnishi, Makoto| Mizuno, Tamaki| Miyoshi, Shin‐ichi| Dutta, Devarati| Ramamurthy, Thandavarayan| Chowdhury, Goutam| Mukhopadhyay, Asish K.| Okamoto, Keinosuke| |
| キーワード | antibiotic resistance diarrhea genome sequence genomic island integron Vibrio cholerae |
| 備考 | This is the peer reviewed version of the following article: Daichi Morita et. al. Genomic characterization of antibiotic resistance‐encoding genes in clinical isolates of Vibrio cholerae non‐O1/non‐O139 strains from Kolkata, India: generation of novel types of genomic islands containing plural antibiotic resistance genes. Microbiology and Immunology 64(6) 435-444 (2020), which has been published in final form at https://doi.org/10.1111/1348-0421.12790. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions.| |
| 発行日 | 2020-03-28 |
| 出版物タイトル | Microbiology and Immunology |
| 巻 | 64巻 |
| 号 | 6号 |
| 出版者 | Wiley |
| 開始ページ | 435 |
| 終了ページ | 444 |
| ISSN | 03855600 |
| NCID | AA00738350 |
| 資料タイプ | 学術雑誌論文 |
| 言語 | 英語 |
| OAI-PMH Set | 岡山大学 |
| 論文のバージョン | author |
| PubMed ID | 32222116 |
| DOI | 10.1111/1348-0421.12790 |
| Web of Science KeyUT | 000527073000001 |
| 関連URL | isVersonOf https://doi.org/10.1111/1348-0421.12790 |
| JaLCDOI | 10.18926/AMO/58276 |
|---|---|
| フルテキストURL | 74_2_165.pdf |
| 著者 | Umemura, Hiroshi| Miura, Katsuhiro | Naruse, Hiromu| Hatta, Yoshihiro| Takei, Masami| Nakayama, Tomohiro| |
| 抄録 | Hereditary hemorrhagic telangiectasia (HHT; also known as Osler-Weber-Rendu disease) is an autosomal dominant genetic disorder that causes frequent epistaxis, mucocutaneous telangiectasia, and visceral arteriovenous malformations. Four genes (ENG, ACVRL1, SMAD4, and GDF2) have been identified as pathogenic in HHT. We describe the case of a 50-year-old Japanese man highly suspected of having HHT due to recurrent epistaxis, mucocutaneous telangiectasia, and a family history. Genomic analysis revealed a novel missense mutation of c.100T>A, p.Cys34Ser in the patient’s ACVRL1 gene. We used 6 freeware programs to perform an in silico analysis of this mutation. The results demonstrated the mutation’s high pathogenicity. |
| キーワード | ACVRL1 hereditary hemorrhagic telangiectasia in silico analysis missense mutation Osler-Weber- Rendu disease |
| Amo Type | Case Report |
| 出版物タイトル | Acta Medica Okayama |
| 発行日 | 2020-04 |
| 巻 | 74巻 |
| 号 | 2号 |
| 出版者 | Okayama University Medical School |
| 開始ページ | 165 |
| 終了ページ | 169 |
| ISSN | 0386-300X |
| NCID | AA00508441 |
| 資料タイプ | 学術雑誌論文 |
| 言語 | 英語 |
| 著作権者 | CopyrightⒸ 2020 by Okayama University Medical School |
| 論文のバージョン | publisher |
| 査読 | 有り |
| PubMed ID | 32341592 |
| Web of Science KeyUT | 000528278500011 |
| NAID | 120006839455 |
| フルテキストURL | fulltext.pdf |
|---|---|
| 著者 | Yokoi, Katsuyuki| Nakajima, Yoko| Shinkai, Yasuko| Sano, Yoshimi| Imamura, Mototaka| Akiyama, Tomoyuki| Yoshikawa, Tetsushi| Ito, Tetsuya| Kurahashi, Hiroki| |
| キーワード | ALPL Dominant-negative mutations Hypophosphatasia Premature loss of deciduous |
| 発行日 | 2019-12-31 |
| 出版物タイトル | Molecular Genetics and Metabolism Reports |
| 巻 | 21巻 |
| 出版者 | Elsevier |
| 開始ページ | 100515 |
| ISSN | 22144269 |
| 資料タイプ | 学術雑誌論文 |
| 言語 | 英語 |
| OAI-PMH Set | 岡山大学 |
| 著作権者 | © 2019 The Authors. Published by Elsevier Inc. |
| 論文のバージョン | publisher |
| PubMed ID | 31641588 |
| DOI | 10.1016/j.ymgmr.2019.100515 |
| Web of Science KeyUT | 000500718300013 |
| 関連URL | isVersionOf https://doi.org/10.1016/j.ymgmr.2019.100515 |
| フルテキストURL | Epilepsia_49_3_521.pdf |
|---|---|
| 著者 | Ohmori, Iori| Ouchida, Mamoru| Kobayashi, Katsuhiro| Jitsumori, Yoshimi| Inoue, Takushi| Shimizu, Kenji| Matsui, Hideki| Ohtsuka, Yoko| Maegaki, Yoshihiro| |
| キーワード | Rasmussen encephalitis SCN1A genetic-environmental interaction |
| 発行日 | 2007-11-21 |
| 出版物タイトル | Epilepsia |
| 巻 | 49巻 |
| 号 | 3号 |
| 出版者 | Blackwell |
| 開始ページ | 521 |
| 終了ページ | 526 |
| ISSN | 0013-9580 |
| NCID | AA00180597 |
| 資料タイプ | 学術雑誌論文 |
| 言語 | 英語 |
| OAI-PMH Set | 岡山大学 |
| 論文のバージョン | author |
| PubMed ID | 18031552 |
| DOI | 10.1111/j.1528-1167.2007.01411.x |
| Web of Science KeyUT | 000253477800020 |
| 関連URL | isVersionOf https://doi.org/10.1111/j.1528-1167.2007.01411.x |