山田 茉未子 (ヤマダ マミコ)

Yamada, Mamiko

写真a

所属(所属キャンパス)

医学部 臨床遺伝学センター (信濃町)

職名

助教(有期)

経歴 【 表示 / 非表示

  • 2011年04月
    -
    2013年03月

    慶應義塾大学病院, 初期臨床研修医

  • 2014年04月
    -
    2017年03月

    慶應義塾大学小児科学教室, 助教(専修医)

  • 2017年04月
    -
    2018年03月

    慶應義塾大学小児科学教室, 助教(小児科)

  • 2018年04月
    -
    2019年03月

    慶應義塾大学保健管理センター, 助教

  • 2018年04月
    -
    継続中

    慶應義塾大学医学部臨床遺伝学センター

学歴 【 表示 / 非表示

  • 2005年04月
    -
    2011年03月

    慶應義塾, 医学部

    大学, 卒業

 
 

論文 【 表示 / 非表示

  • Effectiveness of integrated interpretation of exome and corresponding transcriptome data for detecting splicing variants of genes associated with autosomal recessive disorders

    Yamada M., Suzuki H., Shiraishi Y., Kosaki K.

    Molecular Genetics and Metabolism Reports (Molecular Genetics and Metabolism Reports)  21 2019年12月

     概要を見る

    © 2019 The Authors Purpose: Part of the weakness of exome analysis lies in the inability to detect aberrant splicing. An evaluation of the post-splicing mRNA sequence concurrently with genomic variants could improve the diagnostic rate. We aimed to investigate publicly available exome sequencing data and its matching transcriptomics data of phenotypically normal individuals to identify alternatively spliced variants from known genes associated with autosomal recessive disorders under the premise that some of the subjects could be carriers of such disorders. Methods: Aberrant splicing events and their triggering genomic variants were detected with the aid of Bayesian network method “SAVNet” which was originally developed for cancer genomics. Results: Forty aberrant splicing events including exon skipping, the creation of a new splice site, and the use of a cryptic splice site in response to the disruption of the authentic site were detected in 1916 genes among 31 of the 179 subjects from the 1000 Genomes Project. The predicted effects on proteins were either frameshift mutations (30) or large in-frame insertions or deletions (10). Five missense mutations and 2 silent mutations were reinterpreted as triggering major changes in transcript sequences. The detection rate of provisionally truncating pathogenic variants increased by 19%, compared with a conventional exome analysis. Conclusion: The coupling interpretation of exome and transcriptome data enhances the performance of conventional exome analyses through the proper interpretation of intronic variants that are outside of the GT/AG splicing consensus sequences and also allows the reinterpretation of “missense” or “silent” substitutions that can indeed have drastic effects on splicing.

  • IFT172 as the 19th gene causative of oral‐facial‐digital syndrome

    Mamiko Yamada Tomoko Uehara Hisato Suzuki Toshiki Takenouchi Hiroyuki Fukushima Naoya Morisada Kenta Tominaga Motohiro Onoda Kenjiro Kosaki

    Am J Med Genet 2019年10月

    研究論文(学術雑誌), 査読有り

  • SATB2-associated syndrome in patients from Japan: Linguistic profiles

    Yamada M., Uehara T., Suzuki H., Takenouchi T., Yoshihashi H., Suzumura H., Mizuno S., Kosaki K.

    American Journal of Medical Genetics, Part A (American Journal of Medical Genetics, Part A)  179 ( 6 ) 866 - 869 2019年06月

    研究論文(学術雑誌), 査読有り,  ISSN  15524825

     概要を見る

    © 2019 Wiley Periodicals, Inc. Cleft palate can be classified as either syndromic or nonsyndromic. SATB2-associated syndrome is one example of a syndromic cleft palate that is accompanied by intellectual disability, and various dental anomalies. SATB2-associated syndrome can be caused by several different molecular mechanisms including intragenic mutations and deletions of SATB2. Here, we report two patients with SATB2 truncating mutations (p.Arg239* and p.Asp702Thrfs*38) and one with a 4.4 megabase deletion including the SATB2 locus. All three patients had cleft palate and other dysmorphic features including macrodontia wide diastema. None of the three patients had acquired any meaningful words at the age of 5 years. In a review of the linguistic natural history of presently reported three patients and 30 previously reported patients, only two patients had attained verbal skills beyond speaking a few words. This degree of delayed speech contrasts with that observed in the prototypic form of syndromic cleft palate, 22q11.2 deletion syndrome. The recognition of SATB2-associated syndrome prior to palatoplasty would be important for plastic surgeons and the families of patients because precise diagnosis should provide predictive information regarding the future linguistic and intellectual abilities of the patients. Macrodontia with a wide diastema and cleft palate is a helpful and highly suggestive sign for the diagnosis of SATB2-associated syndrome.

  • Histological Changes in Autoimmune Hepatitis with Graves' Disease: A Child Case Report.

    山田 茉未子

    Intern Med. 2017年08月

    研究論文(学術雑誌)

  • A Pediatric Case of Antibiotic-Associated Hemorrhagic Colitis Caused by Klebsiella Oxytoca.

    山田 茉未子

    Glob Pediatr Health. 2014年09月

    研究論文(学術雑誌)

総説・解説等 【 表示 / 非表示

研究発表 【 表示 / 非表示

  • Effectiveness of integrated interpretation of exome and corresponding transcriptome data in detecting splicing variants: Population and clinical studies

    山田茉未子

    第59回日本先天異常学会・The 13th World Congress of International Cleft Lip and Palate Foundation CLEFT 2019 ICPF合同学術集会, 2019年07月, 口頭(一般)

  • Effectiveness of integrated interpretation of exome and corresponding transcriptome data in detecting splicing variants of recessive disorders

    European Human Genetics Conference, 2019年06月, 口頭(一般)

  • Integrated analysis of RNA-seq and exome data in 179 subjects unravels frequent protein-truncating splicing events out of “missense” or “silent” mutations

    山田 茉未子

    第41回日本小児遺伝学会学術集会, 2019年01月, 口頭(一般)

  • 精巣捻転症への学校における取り組み

    山田 茉未子

    日本学校保健学会第65回学術大会, 2018年12月, ポスター(一般)

  • 症候群性口蓋裂の原因としてのSATB2半量不全:新規3例と既報の検討

    山田 茉未子

    日本人類遺伝第63回大会, 2018年10月, ポスター(一般)

全件表示 >>

競争的資金等の研究課題 【 表示 / 非表示

  • スプライシング変異の転写後配列への影響:ゲノム・トランスクリプトーム統合解析

    2019年04月
    -
    2021年03月

    文部科学省・日本学術振興会, 科学研究費助成事業, 山田 茉未子, 若手研究, 補助金,  代表

  • 人工知能を用いた原因不明肝臓疾患のスプライシング異常の検出

    2019年04月
    -
    2020年03月

    山田茉未子, ゲノム科学・バイオインフォマティクス, 補助金,  代表

受賞 【 表示 / 非表示

  • Gold Award, 13th World Congress of The Intentional Cleft Lip and Palate Foundation CLEFT2019

    2019年07月,  Congress of The Intentional Cleft Lip and Palate Foundation, Effectiveness of integrated interpretation of exome and corresponding transcriptome data in detecting splicing variants: Population and clinical studies

    受賞区分: 国際学会・会議・シンポジウム等の賞

  • 優秀演題賞、日本小児遺伝学会

    2019年01月, 第41回日本小児遺伝学会学術集会, Integrated analysis of RNA-seq and exome data in 179 subjects unravels frequent protein-truncating splicing events out of “missense” or “silent” mutations

    受賞区分: 国内学会・会議・シンポジウム等の賞