山田茉未子

Mamiko Yamada

競争的資金等の研究課題 (9件)：

2021 - 2023 末梢血トランスクリプトームの外れ値解析:エクソーム解析の限界を超えるアプローチ
2021 - 2022 スプライシング異常是正薬の開発を目指した、遺伝性疾患の発症機序の解明
2021 - 2022 ゲノム解析の限界を超える新手法の開発:トランスクリプトーム変異解析
2021 - 2022 スプライシング異常治療を目指した新ゲノム解析手法による遺伝性疾患の発生機序の解明
2020 - 2021 哺乳不良を伴う新生児および乳児を対象とした、原因疾患の早期診断のための遺伝学的アプローチ:人工知能によるスプライシング異常の検出およびエクソーム・RNA統合解析の有用性の検討

全件表示

論文 (21件)：

Mamiko Yamada, Hisato Suzuki, Hiroyuki Adachi, Atsuko Noguchi, Fuyuki Miya, Tsutomu Takahashi, Kenjiro Kosaki. Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report. BMC Neurol . 2022. 22. 1. 20-20
Shimura T, Abe K, Takenouchi T, Yamada M, Suzuki H, Suematsu M, Nakakubo S, Kamada K, Konno S, Teshima T, et al. Multiple introductions of SARS-CoV-2 B.1.1.214 lineages from mainland Japan preceded the third wave of the COVID-19 epidemic in Hokkaido. Travel Medicine and Infectious Disease. 2021. 44. 102210-102210
Midori Awazu, Mamiko Yamada, Nariaki Asada, Akinori Hashiguchi, Kenjiro Kosaki, Kazuya Matsumura. A girl with a mutation of the ciliary gene CC2D2A presenting with FSGS and nephronophthisis. CEN Case Rep . 2021. 11. 1. 116-119
Tomoko Uehara, Rikako Sanuki, Yurie Ogura, Atsushi Yokoyama, Takeshi Yoshida, Hiroshi Futagawa, Hiroshi Yoshihashi, Mamiko Yamada, Hisato Suzuki, Toshiki Takenouchi, et al. Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating alleles. American Journal of Medical Genetics, Part A. 2021. 185. 7. 2084-2093
Yamada M, Suzuki H, Watanabe A, Uehara T, Takenouchi T, Mizuno S, Kosaki K. Role of chimeric transcript formation in the pathogenesis of birth defects. Congenital Anomalies. 2021. 61. 3. 76-81

MISC (5件)：

Mamiko Yamada, Takeshi Arimitsu, Asami Osada, Kenjiro Kosaki. Direct visualization of the evolution of limb amputation in amnion rupture sequence in an extremely preterm infant born at 22 weeks. Am J Med Genet A . 2021. 185. 9. 2821-2823
Ogawa E, Sakaguchi Y, Enokizono M, Yoshihashi H, Yamada M, Suzuki H, Kosaki K, Miyama S, Takenouchi T. Vanishing basal ganglia in ATP1A3-related polymicrogyria. American Journal of Medical Genetics, Part A. 2021. 188. 2. 665-667
Yamada M, Sokoda T, Uehara T, Suzuki H, Takenouchi T, Yagihashi T, Maruo Y, Kosaki K. Learning disability and myoclonic epilepsy associated with apparently synonymous but splice-disrupting JMJD1C variant that led to 21 bp deletion of the transcript. American Journal of Medical Genetics, Part A. 2020. 182. 12. 3064-3067
Mamiko Yamada, Tomoko Uehara, Hisato Suzuki, Toshiki Takenouchi, Hiroyuki Fukushima, Naoya Morisada, Kenta Tominaga, Motohiro Onoda, Kenjiro Kosaki. IFT172 as the 19th gene causative of oral-facial-digital syndrome. American journal of medical genetics. Part A. 2019. 179. 12. 2510-2513
Tomoko Uehara, Takatoshi Tsuchihashi, Mamiko Yamada, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki. CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2019. 179. 12. 2506-2509

講演・口頭発表等 (16件)：

Documentation of IFT172 as the nineteenth gene causative of oral-facial-digital syndrome underscores the importance of ciliary trafficking in its pathogenesis.
(2020 Western Medical Research Conference 2020)
Integration of exome data with transcriptome data increased detection of pathogenic variants by 20% among 179 samples.
(日本人類遺伝学会第64回大会・東アジア人類遺伝学会連合第19回大会 2019)
Effectiveness of integrated interpretation of exome and corresponding transcriptome data in detecting splicing variants: Population and clinical studies
(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)
Effectiveness of integrated interpretation of exome and corresponding transcriptome data in detecting splicing variants of recessive disorders
(European Human Genetics Conference 2019)
Integrated analysis of RNA-seq and exome data in 179 subjects unravels frequent protein-truncating splicing events out of “missense” or “silent” mutations
(第41回日本小児遺伝学会学術集会 2019)

学歴 (1件)：

経歴 (5件)：

受賞 (3件)：

2020/01/23 - The Western society of pediatric research & Mead Johnson Nutrition Award
2019/07/28 - Congress of The Intentional Cleft Lip and Palate Foundation Gold Award, 13th World Congress of The Intentional Cleft Lip and Palate Foundation CLEFT2019 Effectiveness of integrated interpretation of exome and corresponding transcriptome data in detecting splicing variants: Population and clinical studies
2019/01/12 - 第41回日本小児遺伝学会学術集会優秀演題賞、日本小児遺伝学会 Integrated analysis of RNA-seq and exome data in 179 subjects unravels frequent protein-truncating splicing events out of “missense” or “silent” mutations

所属学会 (2件)：

日本小児科学会 , 日本小児内分泌学会

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山田 茉未子