Search Results 1-20 of 240

  • Contribution of rare variants to medical research  [in Japanese]

    桃沢 幸秀

    医学のあゆみ 273(4), 311-315, 2020-04-25

  • Identification of novel compound heterozygous mutations of the <i>DYNC2H1</i> gene in a fetus with short-rib thoracic dysplasia 3 with or without polydactyly

    Geng Kaiyue , Mu Kai , Zhao Yan , Luan Jing , Cui Yazhou , Han Jinxiang

    … These variants were further confirmed by Sanger sequencing. … gene for SRTD3 and it has increased the number of reported cases and expanded the spectrum of mutations causing this rare disease.</p> …

    Intractable & Rare Diseases Research 9(2), 95-98, 2020

    J-STAGE 

  • Hereditary hemolytic anemia in newborns: clinical significance of genetic diagnosis  [in Japanese]

    OHGA Shouichi , ISHIMURA Masataka , EGUCHI Katsuhide , HASEGAWA Ichita , OGURA Hiromi , UTSUGISAWA Taiju , KANNO Hitoshi

    <p>遺伝性溶血性貧血は,赤血球の破壊亢進から貧血をきたす単一遺伝子病である。本症は,赤血球の膜,血色素と酵素の異常に起因する。近年網羅的遺伝子解析から,多彩な遺伝性疾患群として認識されるようになった。患児は胎児水腫や重症黄疸で発症し治療が優先されるため,早期診断が難しい。新生児期の生理的溶血と黄疸,小児期特有の感染症に注意して治療管理を行い,"症候性"溶血性貧血の一群を除外する。適切 …

    Rinsho Ketsueki 61(5), 484-490, 2020

    J-STAGE 

  • Rare Genotype of His/His in NUDT15 Codon 139 and Thiopurine-associated Adverse Events in a Case of Ulcerative Colitis

    Tomiyoshi Kei , Sato Hiroki , Tominaga Kentaro , Kawata Yuzo , Okamoto Daisuke , Kakuta Yoichi , Yokoyama Junji , Terai Shuji

    variants are associated with thiopurine-induced adverse events, particularly in Asians. … We herein report a rare genotype of His/His in <i>NUDT15</i> …

    Internal Medicine, 2020

    J-STAGE 

  • A rare case of oncocytic adrenocortical carcinoma clinically presented as an incidentaloma

    Harada Ko , Yasuda Miho , Nakano Yasuhiro , Yoshida Kazuhiro , Umeda Yuzo , Yagi Takahito , Yamazaki Yuto , Sasano Hironobu , Otsuka Fumio

    … <p>Adrenocortical carcinoma (ACC) is a rare aggressive tumor originating from adrenocortical parenchymal cells and its incidence is approximately 1 per million population per year. … An oncocytic ACC is a recently identified entity among the several known histopathological variants of ACC, which is characterized by oncocytic cells, and only a few cases in the available literature have reported this tumor. …

    Endocrine Journal, 2020

    J-STAGE 

  • Accurate modeling of neurodevelopmental disorders using patients'-derived iPS cells  [in Japanese]

    Nakazawa Takanobu , Hashimoto Ryota , Takuma Kazuhiro , Hashimoto Hitoshi

    … In addition to the potential cumulative effect of a large number of common genetic variants with small individual effects, psychiatric disorders are strongly associated with rare variants with high penetrance. … point mutations, we have been focusing on copy number variants, which represent large genomic duplications or deletions, and found that 3q29 deletion impaired central nervous system development in patient's-derived neural stem cells. …

    Proceedings for Annual Meeting of The Japanese Pharmacological Society 93(0), 3-JPS-1, 2020

    J-STAGE 

  • Replication study of four keloid-associated polymorphisms in patients of European descent – a single centre study

    Dmytrzak Andrzej , Boroń Agnieszka , Łoniewska Beata , Clark Jeremy S.C. , Kaczmarczyk Mariusz , Ciechanowicz Andrzej

    … The aim of our study was to investigate possible associations between rs873549, rs1511412, rs940187 and rs8032158 variants and the risk of keloid in Polish patients of European descent. …

    Intractable & Rare Diseases Research 9(1), 40-42, 2020

    J-STAGE 

  • Variants of Lipid-Related Genes in Adult Japanese Patients with Severe Hypertriglyceridemia

    Matsunaga Akira , Nagashima Mariko , Yamagishi Hideko , Saku Keijiro

    Variants in lipoprotein lipase (<i>LPL</i>), apolipoprotein CII (<i>APOC2</i>), apolipoprotein AV (<i>APOA5</i>), glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (<i>GPIHBP1</i>), lipase maturation factor 1 (<i>LMF1</i>), and glucokinase regulator (<i>GCKR</i>) are responsible for hypertriglyceridemia. …

    Journal of Atherosclerosis and Thrombosis, 2020

    J-STAGE 

  • KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup)

    Hamaguchi Yo , Aoki Mikihiro , Watanabe Satoshi , Mishima Hiroyuki , Yoshiura Koh-ichiro , Moriuchi Hiroyuki , Dateki Sumito

    … Heterozygous pathogenic variants in the KAT6B gene, which encodes lysine acetyltransferase 6B, have been identified in patients with congenital rare disorders, including genitopatellar syndrome and Say-Barber-Biesecker-Young-Simpson syndrome. …

    Human Genome Variation 6(1), 54, 2019-12-13

    IR 

  • Genetic study of psychiatric disorders based on rare variants  [in Japanese]

    久島 周

    細胞 51(14), 742-745, 2019-12

  • Genetic Analysis of Alzheimer's Disease : The Impact of Rare Variants and Their Significance  [in Japanese]

    宮下 哲典 , 劉 李歆 , 原 範和

    Brain and nerve 71(10), 1071-1079, 2019-10

  • Phenotype-Based High-Throughput Classification of Long QT Syndrome Subtypes Using Human Induced Pluripotent Stem Cells

    Yoshinaga Daisuke , Baba Shiro , Makiyama Takeru , Shibata Hirofumi , Hirata Takuya , Akagi Kentaro , Matsuda Koichi , Kohjitani Hirohiko , Wuriyanghai Yimin , Umeda Katsutsugu , Yamamoto Yuta , Conklin Bruce R. , Horie Minoru , Takita Junko , Heike Toshio

    … For long QT syndrome (LQTS), recent progress in genome-sequencing technologies enabled the identification of rare genomic variants with diagnostic, prognostic, and therapeutic implications. … However, pathogenic stratification of the identified variants remains challenging, especially in variants of uncertain significance. …

    Stem cell reports 13(2), 394-404, 2019-08-13

    IR 

  • Molecular assay for an intronic variant in NUP93 that causes steroid resistant nephrotic syndrome

    Rossanti Rini , Shono Akemi , Miura Kenichiro , Hattori Motoshi , Yamamura Tomohiko , Nakanishi Keita , Minamikawa Shogo , Fujimura Junya , Horinouchi Tomoko , Nagano China , Sakakibara Nana , Kaito Hiroshi , Nagase Hiroaki , Morisada Naoya , Asanuma Katsuhiko , Matsuo Masafumi , Nozu Kandai , Iijima Kazumoto

    … NUP93 variants are quite rare; … however, we have shown that even intronic variants in NUP93 can cause SRNS. … This study provides a fundamental approach to validate the intronic variant, as well as new insights regarding the clinical spectrum of SRNS caused by rare gene variants. …

    Journal of Human Genetics 64(7), 673-679, 2019-07

    IR  Ichushi Web 

  • Molecular dynamics simulation-guided drug sensitivity prediction for lung cancer with rare EGFR mutations

    Ikemura Shinnosuke , Yasuda Hiroyuki , Matsumoto Shingo , Kamada Mayumi , Hamamoto Junko , Masuzawa Keita , Kobayashi Keigo , Manabe Tadashi , Arai Daisuke , Nakachi Ichiro , Kawada Ichiro , Ishioka Kota , Nakamura Morio , Namkoong Ho , Naoki Katsuhiko , Ono Fumie , Araki Mitsugu , Kanada Ryo , Ma Biao , Hayashi Yuichiro , Mimaki Sachiyo , Yoh Kiyotaka , Kobayashi Susumu S. , Kohno Takashi , Okuno Yasushi , Goto Koichi , Tsuchihara Katsuya , Soejima Kenzo

    LC-SCRUM-Japanで構築した日本最大のがん臨床ゲノムデータを活用しスーパーコンピュータで治療薬の効き目を予測 --がんゲノム医療における新たなツールの開発--. 京都大学プレスリリース. 2019-05-13.

    Proceedings of the National Academy of Sciences of the United States of America 116(20), 10025-10030, 2019-05-14

    IR 

  • The latest findings of postmortem brain research in psychiatric disease  [in Japanese]

    Kunii Yasuto

    近年,ゲノムワイド関連解析,次世代シークエンシング技術の発展により,統合失調症のリスクに関連する遺伝子領域やde novo変異が同定されるなどの大きな進展がみられたものの,統合失調症や他の精神疾患の根底にある正確な分子メカニズムは明らかにされていない。転写レベルの変化,エピジェネティック修飾およびde novo変異などの脳特異的ゲノム多型を考慮すると,ヒト脳組織の研究は,統合失調症または双極性障害 …

    Japanese Journal of Biological Psychiatry 30(4), 163-167, 2019

    J-STAGE  Ichushi Web 

  • Interpretation of rare variant analyses in neuropsychiatric disorders 101  [in Japanese]

    Takata Atsushi

    … 次世代シーケンス技術の発展普及に伴い,多数検体のヒト全ゲノム・エクソーム配列を解読し,網羅的なrare variant解析を行うことが可能となってきている。 …

    Japanese Journal of Biological Psychiatry 30(1), 10-13, 2019

    J-STAGE  Ichushi Web 

  • Lessons from the sequencing study of genes for neurodevelopment in Schizophrenia  [in Japanese]

    Kimura Hiroki , Ozaki Norio

    統合失調症の発症に強い影響力を持つまれなゲノム変異として,コピー数多型(CNV)が挙げられるが,CNVを起点として如何なるメカニズムによって統合失調症の発症に至るのかは不明である。筆者は日本人統合失調症の全ゲノムCNV解析から発症に強い影響力を持つと判明したCNV領域内の神経発達関連遺伝子を対象としたシークエンス解析を実施し,統合失調症の発症に強い影響力を持つ一塩基変異(SNV)の探索と,同定した …

    Japanese Journal of Biological Psychiatry 30(1), 14-17, 2019

    J-STAGE 

  • Deleteriousness of rare variants in patients with bipolar disorder assessed by biochemical analysis, computer prediction, <i>etc</i>.  [in Japanese]

    Kasahara Takaoki

    まれな変異とは,一般的にはその頻度が1%未満の変異を指し,その中に精神疾患の発症や病態に関連するものがあるだろうと考えて研究を行っている。しかし,そのような有害な変異が,なぜヒト集団に存在するのだろうか。本稿ではまず,分子生物学と分子進化学による説明と最近の大規模ゲノム解析のデータを見ながら議論する。また,有害とはどういうことか,どのように調べるのかについて解説し,筆者らが行った双極性障害における …

    Japanese Journal of Biological Psychiatry 30(1), 3-9, 2019

    J-STAGE  Ichushi Web 

  • Malignant Arrhythmia with Variants of Desmocollin-2 and Desmoplakin Genes:A Case Report

    Chen Da-Qiu , Shen Xue-Bin , Zhang Shao-Hong , Ye Gui-Yun , Xu Shang-Hua

    … Two heterozygous missense variants of the desmocollin-2 gene (<i>DSC2</i>, c.G2446A/p.V816M) and desmoplakin gene (<i>DSP</i>, c.G3620A/p.R1207K) were detected in the peripheral blood of this teenager and his father by genetic testing, which encoded a desmosomal protein that was related to arrhythmogenic right ventricular cardiomyopathy (ARVC). … In these two rare variants, DSC2 V816M has been reported but uncertain significance, whereas DSP R1207K is never reported. …

    International Heart Journal 60(5), 1196-1200, 2019

    J-STAGE 

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