Výsledky vyhledávání - "Yasuko Hemmi"

Akademický článek

Generation of a human induced pluripotent stem cell line derived from a patient with dilated cardiomyopathy carrying LMNA nonsense mutation

Autor: Yuzuno Shimoda, Nobuyuki Murakoshi, Haruka Mori, DongZhu Xu, Kazuko Tajiri, Yasuko Hemmi, Iori Sato, Michiya Noguchi, Yukio Nakamura, Yohei Hayashi, Masaki Ieda

Publikováno v: Stem Cell Research, Vol 62, Iss , Pp 102793- (2022)

Dilated cardiomyopathy (DCM) is a refractory heart disease characterized by dilation of the left ventricle and systolic dysfunction. LMNA, the gene encoding lamin A/C (a nuclear envelope protein), is the second leading causative gene associated with

Externí odkaz: https://doaj.org/article/1637506e6fe64691b6ad194789d94f72

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Akademický článek

Generation of human induced pluripotent stem cell lines carrying homozygous JAG1 deletions

Autor: Dan Song, Yun-Wen Zheng, Yasuko Hemmi, Yuri An, Michiya Noguchi, Yukio Nakamura, Tatsuya Oda, Yohei Hayashi

Publikováno v: Stem Cell Research, Vol 57, Iss , Pp 102588- (2021)

JAG1 gene encodes Jagged1 protein, which is a ligand for NOTCH receptors. JAG1 mutations cause Alagille syndrome, in which liver failure occurs caused by abnormalities in the bile ducts. In this study, we generated two homozygous JAG1 knockout iPSC l

Externí odkaz: https://doaj.org/article/139c694af1144ea285a3d5f31ec535cb

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Akademický článek

Generation of two human induced pluripotent stem cell lines derived from two X-linked adrenoleukodystrophy patients with ABCD1 mutations

Autor: Yuji Kuramochi, Tomonari Awaya, Mami Matsuo-Takasaki, Miho Takami, Yuri An, Jingyue Li, Yasuko Hemmi, Tamami Wakabayashi, Yutaka Arai, Jun Inoue, Michiya Noguchi, Yukio Nakamura, Isao Asaka, Kazunori Akimoto, Megumu K. Saito, Yohei Hayashi

Publikováno v: Stem Cell Research, Vol 53, Iss , Pp 102337- (2021)

Adrenoleukodystrophy (ALD) is an X-linked genetic disorder, characterized by demyelination in the central nervous system and adrenal insufficiency. Human induced pluripotent stem cell (hiPSC) lines derived from two Japanese male patients with ALD wer

Externí odkaz: https://doaj.org/article/193cf00ce38e4473be44dc32ab02b779

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Akademický článek

Generation of two ISL1-tdTomato reporter human induced pluripotent stem cell lines using CRISPR-Cas9 genome editing

Autor: Satomi Tsukamoto, Koji Nakade, Tamami Wakabayashi, Kenichi Nakashima, Miho Takami, Yasuko Hemmi, Yuji Kuramochi, Tomoya Shimizu, Yutaka Arai, Mami Matsuo-Takasaki, Michiya Noguchi, Yukio Nakamura, Yoshihiro Miwa, Yohei Hayashi

Publikováno v: Stem Cell Research, Vol 53, Iss , Pp 102363- (2021)

ISL1 encodes a member of the LIM/homeodomain family of transcription factors. This encoded protein plays central roles in the development of motor neuron, pancreas, and secondary heart field. Here we generated heterozygous fluorescent reporters of th

Externí odkaz: https://doaj.org/article/f0a084e1f66742a1b47f6d8af2db44f6

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Akademický článek

Generation of two human induced pluripotent stem cell lines derived from two juvenile nephronophthisis patients with NPHP1 deletion

Autor: Yutaka Arai, Miho Takami, Yuri An, Mami Matsuo-Takasaki, Yasuko Hemmi, Tamami Wakabayashi, Jun Inoue, Michiya Noguchi, Yukio Nakamura, Keisuke Sugimoto, Tsukasa Takemura, Keisuke Okita, Kenji Osafune, Minoru Takasato, Tadayoshi Hayata, Yohei Hayashi

Publikováno v: Stem Cell Research, Vol 45, Iss , Pp - (2020)

Juvenile nephronophthisis is an inherited renal ciliopathy, causing cystic kidney disease, renal fibrosis, and end-stage renal failure. Human induced pluripotent stem cell (hiPSC) lines, derived from two Juvenile nephronophthisis patients, were gener

Externí odkaz: https://doaj.org/article/5ffdce054d2d4bab92aee8dc88c73bd5

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Retinoids rescue ceruloplasmin secretion and alleviate oxidative stress in Wilson's disease-specific hepatocytes

Autor: Dan Song, Gou Takahashi, Yun-Wen Zheng, Mami Matsuo-Takasaki, Jingyue Li, Miho Takami, Yuri An, Yasuko Hemmi, Natsumi Miharada, Tsuyoshi Fujioka, Michiya Noguchi, Takashi Nakajima, Megumu K Saito, Yukio Nakamura, Tatsuya Oda, Yuichiro Miyaoka, Yohei Hayashi

Publikováno v: Human molecular genetics. 31(21)

Wilson’s disease (WD) is a copper metabolic disorder caused by a defective ATP7B function. Conventional therapies cause severe side effects and significant variation in efficacy, according to cohort studies. Thus, exploring new therapeutic approach

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86e35751eaf55d3c1ceb1cba24362260
https://pubmed.ncbi.nlm.nih.gov/35388883

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Retinoids rescue ceruloplasmin secretion and alleviate oxidative stress in Wilson’s disease-specific hepatocytes

Autor: Tsuyoshi Fujioka, Yun-Wen Zheng, Takashi Nakajima, Gou Takahashi, Natsumi Miharada, Michiya Noguchi, Yukio Nakamura, Miho Takami, Yuri An, Megumu K. Saito, Mami Matsuo-Takasaki, Yohei Hayashi, Jingyue Li, Yuichiro Miyaoka, Yasuko Hemmi, Tatsuya Oda, Dan Song

SummaryWilson’s disease (WD) is a copper metabolic disorder, which is caused by defective ATP7B function. Here, we have generated induced pluripotent stem cells (iPSCs) from WD patients carrying compound heterozygous mutations on ATP7B. ATP7B loss-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::428f59492fecb3a3dc47b50dccace989
https://doi.org/10.1101/2021.08.10.455792