研究者総覧 - セバスチャン　ウラン

セバスチャン　ウラン
セバスチャン　ウラン

所属大分大学医学部臨床医学・小児科学

職種特任助教

論文
論文	A pathogenic variant Gly148Arg of ACTA2 gene causes left ventricular myocardial compaction: cardiac manifestations in a zebrafish model European Society of Human Genetics Conference (ESHG 2024) Berlin, Germany 2024/06
論文	Biallelic variants in LARS1 induce steatosis in developing zebrafish liver via enhanced autophagy. Orphanet journal of rare diseases 19 (1),219-219頁 2024/05/28
論文	Effect of nonsense-mediated mRNA decay factor SMG9 deficiency on premature aging in zebrafish. Communications biology 7 (1),654-654頁 2024/05/28
論文	Knock-inゼブラフィッシュによるleucyl-tRNA synthetase(LARS)欠損症の特徴的表現型の解明(Elucidating characteristic phenotypes of leucyl-tRNA synthetase (LARS) deficiency unveiled via knock-in zebrafish) 日本内分泌学会雑誌 100 (1),398-398頁 2024/05
論文	Knock-inゼブラフィッシュによるleucyl-tRNA synthetase(LARS)欠損症の特徴的表現型の解明(Elucidating characteristic phenotypes of leucyl-tRNA synthetase (LARS) deficiency unveiled via knock-in zebrafish) 日本内分泌学会雑誌 100 (1),398-398頁 2024/05
論文	遠位尿細管性アシドーシスに伴う難聴発症のメカニズム解明日本小児腎臓病学会雑誌 37 (Suppl.),94-94頁 2024/05
論文	Cardiac manifestations of human ACTA2 variants recapitulated in a zebrafish model. Journal of human genetics 69 (3-4),133-138頁 2024/04
論文	A pH imbalance is linked to autophagic dysregulation of inner ear hair cells in Atp6v1ba-deficient zebrafish. Biochemical and biophysical research communications 699,149551-149551頁 2024/03/05
論文	Behavioral and neurological effects of Vrk1 deficiency in zebrafish. Biochemical and biophysical research communications 675,10-18頁 2023/10/01
論文	Autophagy enhancement induces steatosis in the developing liver of lars-knock-in zebrafish Human Generics Asia 2023 Tokyo, Japan 2023/10
論文	Elucidation of the mechanism of hearing loss associated with distal tubular acidosis Asian Conference on Fish Models for Diseases Borobudur, Yogyakarta, Indonesia 2023/02
論文	Dynamic Duo: Ankle2 and Vrk1 coordination in maintaining neurogenesis in zebrafish Asian Conference on Fish Models for Diseases Borobudur, Yogyakarta, Indonesia 2023/01
論文	Ankle2 deficiency-associated microcephaly and spermatogenesis defects in zebrafish are alleviated by heterozygous deletion of vrk1. Biochemical and biophysical research communications 624,95-101頁 2022/10/08
論文	Corrigendum to "Exosc2 deficiency leads to developmental disorders by causing a nucleotide pool imbalance in zebrafish". Biochemical and biophysical research communications 546,200-200頁 2021/03/26
論文	Exosc2 deficiency leads to developmental disorders by causing a nucleotide pool imbalance in zebrafish. Biochemical and biophysical research communications 533 (4),1470-1476頁 2020/12/17