Job title：
Assistant Professor
Other affiliations (1)：
Wellcome Trust Centre for Cell-Matrix Research, University of Manchester
Division of Cell Matrix Biology and Regenerative Medicine
Visiting Research Fellow
Research field (2)：
Nephrology
, Fetal medicine/Pediatrics
Research theme for competitive and other funds (3)：
2019 - 2021 A comprehensive X chromosome inactivation analysis for female patients with X-linked Alport syndrome
2016 - 2018 Establishment of a diagnostic system for Alport syndrome using comprehensive genetic analysis
Papers (110)：
Yuimi Koyama, Mary Ann Suico, Aimi Owaki, Ryoichi Sato, Jun Kuwazuru, Shota Kaseda, Yuya Sannomiya, Jun Horizono, Kohei Omachi, Tomoko Horinouchi, et al. Trimerization profile of type IV collagen COL4A5 exon deletion in X-linked Alport syndrome. Clinical and Experimental Nephrology. 2024
Ryota Suzuki, Nana Sakakibara, Yuta Ichikawa, Hideaki Kitakado, Chika Ueda, Yu Tanaka, Eri Okada, Atsushi Kondo, Shinya Ishiko, Shingo Ishimori, et al. Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease. Kidney International Reports. 2023
Eri Okada, Tomoko Horinouchi, Tomohiko Yamamura, Yuya Aoto, Ryota Suzuki, Yuta Ichikawa, Yu Tanaka, Chika Masuda, Hideaki Kitakado, Atsushi Kondo, et al. All reported non-canonical splice site variants in GLA cause aberrant splicing. Clinical and experimental nephrology. 2023
小山 結実, Suico Mary Ann, 加世田 将大, 桑水流 淳, 三宮 裕也, 堀園 潤, 津波古 遥希, 尾脇 あいみ, 佐藤 諒一, 白神 正博, et al. Alport症候群原因遺伝子COL4A5の各種exon欠損がIV型コラーゲン三量体分泌に与える影響. 日本小児腎臓病学会雑誌. 2023. 36. Suppl. 94-94
小山 結実, Suico Mary Ann, 加世田 将大, 桑水流 淳, 三宮 裕也, 堀園 潤, 津波古 遥希, 尾脇 あいみ, 佐藤 諒一, 白神 正博, et al. Alport症候群原因遺伝子COL4A5の各種exon欠損がIV型コラーゲン三量体分泌に与える影響. 日本小児腎臓病学会雑誌. 2023. 36. Suppl. 94-94
Gene therapy for Alport syndrome
(The 18th congress of Asian society of pediatric research 2023)
Exploring the molecular basis of Ramipril-induced nephroprotection in Alport syndrome
(American society of Nephrology Kidney week 2023 2023)
Emerging therapy in Alport syndrome
(European society of pediatric nephrology (ESPN) 55th annual meeting 2023)
Exon skipping therapy for COL4A5 gene truncating variant rescued progression of kidney failure in X-linked Alport syndrome
(ASN Kidney week 2019 2019)
Exon skipping therapy for COL4A5 gene truncating variant rescued progression of kidney failure in X-linked Alport syndrome
(2019 International Workshop on Alport Syndrome 2019)
2021/07 - The 56th Annual meeting of the Japanese Society for Pediatric Nephrology Research Paper Awards (clinical investigation)
2021/07 - The 56th Annual meeting of the Japanese Society for Pediatric Nephrology Research Paper Awards (basic research)
2019/09 - The 2019 International workshop on Alpot Syndrome The Cecil Alport Award for the best young investigator
2019/06 - The 54th Annual meeting of the Japanese Society for Pediatric Nephrology Young Investigators Award
2019/06 - The 62nd Annual meeting of the Japanese Society of Nephrology The Best Presentation Awards
2018/06 - The 61st Annual meeting of the Japanese Society of Nephrology Presentation Awards
2016/09 - The 17th Annual meeting of the International Pediatric Nephrology Association Travel grant
2016/07 - The 51st Annual meeting of the Japanese Society for Pediatric Nephrology Young Investigators Award
2016/06 - The 59th Annual meeting of the Japanese Society of Nephrology Presentation Awards
2016 - 兵庫県健康財団研究奨励賞
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Association Membership(s) (6)：
JAPAN PEDIATRIC SOCIETY
, 日本小児腎不全学会
, JAPANESE SOCIETY OF NEPHROLOGY
, THE JAPANESE SOCIETY FOR PEDIATRIC NEPHROLOGY
, American Society of Nephrology
, International Pediatric Nephrology Association
