Accès ouvert
2025
preprint
OpenAlex
Kenji Izumi, Nami Motosugi, Akiko Sugiyama, Natsumi Kurosaki et autres
Summary Long noncoding RNAs (lncRNAs) represent a vast class of regulatory transcripts and are spatiotemporally controlled, yet only a few have been functionally implicated in human development. Here, we identify the X-linked lncRNA XACT , abundantly but transiently expressed during early human …
jp
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Accès ouvert
2025
article
OpenAlex
Nami Motosugi, Keita Hasegawa, Natsumi Kurosaki, Kenji Izumi et autres
The irreversible erosion of X-chromosome inactivation (XCI) due to repression of the long non-coding RNA XIST presents a major challenge for disease modeling and raises safety concerns for the clinical application of female human pluripotent stem cells (hPSCs) due to the aberrant …
jp
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Accès ouvert
2024
preprint
OpenAlex
Nami Motosugi, Keita Hasegawa, Natsumi Kurosaki, Kenji Izumi et autres
Summary Erosion of X-chromosome inactivation (XCI) complicates disease and developmental modeling in female human pluripotent stem cells (hPSCs). Previous studies demonstrated that Cas9-mediated editing of the XIST promoter via non-homologous end joining (NHEJ) or homology-directed repair (HDR) with a selection cassette upstream …
jp
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Accès ouvert
2024
article
OpenAlex
Kota Tsuruya, Keiko Yokoyama, Yusuke Mishima, Kinuyo Ida et autres
Progressive familial intrahepatic cholestasis (PFIC) is a liver disease that occurs during childhood and requires liver transplantation. ABCB4 is localized along the canalicular membranes of hepatocytes, transports phosphatidylcholine into bile, and its mutation causes PFIC3. Abcb4 gene-deficient mice established as animal models …
jp
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Accès ouvert
2022
erratum
OpenAlex
Tomoyoshi Komiyama, Hakushi Kim, Masayuki Tanaka, Sanae Isaki et autres
The authors would like to make the following correction to the published paper [...].
jp
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Accès ouvert
2022
article
OpenAlex
Tomoyoshi Komiyama, Hakushi Kim, Masayuki Tanaka, Sanae Isaki et autres
This study aimed to clarify whether genetic mutations participate in renal cell carcinoma (RCC) metastasis to the adrenal gland (AG). Our study analyzed whole mitochondrial gene and ribonucleic acid sequencing (RNA-seq) data from a male patient in his 60s with metastatic RCC. …
jp
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