Biblio
Application of induced pluripotent stem cells to primary immunodeficiency diseases. Exp Hematol. 2019.
. A concise model for evaluating interactions between macrophage and skeletal muscle cells during muscle regeneration. Front Cell Dev Biol. 2023;11:1022081.
. Correction: Induced pluripotent stem cell-derived monocytic cell lines from a NOMID patient serve as a screening platform for modulating NLRP3 inflammasome activity. PLoS One. 2021;16(4):e0249807.
. Cryptotanshinone is a candidate therapeutic agent for interstitial lung disease associated with a BRICHOS-domain mutation of . iScience. 2023;26(10):107731.
A de novo dominant-negative variant is associated with OTULIN-related autoinflammatory syndrome. J Exp Med. 2024;221(6).
A disease-specific iPS cell resource for studying rare and intractable diseases. Inflamm Regen. 2023;43(1):43.
Functional evaluation of the pathological significance of MEFV variants using induced pluripotent stem cell-derived macrophages. J Allergy Clin Immunol. 2019.
Generation of a human induced pluripotent stem cell line, BRCi001-A, derived from a patient with mucopolysaccharidosis type I. Stem Cell Res. 2019;36:101406.
Generation of two human induced pluripotent stem cell lines derived from two X-linked adrenoleukodystrophy patients with ABCD1 mutations. Stem Cell Res. 2021;53:102337.
Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes. Blood. 2022.
Induction of Human Natural Killer Cells Under Defined Conditions by Seamless Transition from Maintenance Culture of Pluripotent Stem Cells. Methods Mol Biol. 2022;2463:47-52.
. Investigation of the molecular causes underlying physical abnormalities in Diamond-Blackfan anemia patients with RPL5 haploinsufficiency. Pathol Int. 2021.
. Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathy. Hum Mol Genet. 2023.
Pluripotent cell-based phenotypic dissection identifies a high-frequency somatic NLRC4 mutation as a cause of autoinflammation. Arthritis Rheumatol. 2016.
Pluripotent stem cell model of early hematopoiesis in Down syndrome reveals quantitative effects of short-form GATA1 protein on lineage specification. PLoS One. 2021;16(3):e0247595.
. Pluripotent stem cell-based screening identifies CUDC-907 as an effective compound for restoring the in vitro phenotype of Nakajo-Nishimura syndrome. Stem Cells Transl Med. 2020.
. SMN promotes mitochondrial metabolic maturation during myogenesis by regulating the MYOD-miRNA axis. Life Sci Alliance. 2023;6(3).
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