「Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency」の関連論文
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Lack of impact of the ALDH2 rs671 variant on breast cancer development in Japanese BRCA1/2‐mutation carriers
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Impairment of DYRK2 by DNMT1-mediated transcription augments carcinogenesis in human colorectal cancer
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Circulatory C-type natriuretic peptide reduces mucopolysaccharidosis-associated craniofacial hypoplasia in vivo
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DNA methyltransferase 3B plays a protective role against hepatocarcinogenesis caused by chronic inflammation via maintaining mitochondrial homeostasis
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Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency
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Reverse Genetic Studies on Mitochondrial tRNA-related Disorders
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Identification and analysis of mechanisms that bypass the essentiality of Polo, a mitotic regulator
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BRCA1 haploinsufficiency promotes chromosomal amplification under Fenton reaction-based carcinogenesis through ferroptosis-resistance
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Lusutrombopag effectively promotes the growth and differentiation of megakaryocytic cells from patients with myelodysplastic syndrome
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Human induced pluripotent stem cells generated from a patient with idiopathic basal ganglia calcification
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UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes
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Pluripotent stem cell model of Shwachman-Diamond syndrome reveals apoptotic predisposition of hemoangiogenic progenitors
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A RUNX-targeted gene switch-off approach modulates the BIRC5/PIF1-p21 pathway and reduces glioblastoma growth in mice
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Studies on the pathological mechanism of alopecia areata in C3H/HeJ mouse model
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Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease
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Two effects of GATA2 enhancer repositioning by 3q chromosomal rearrangements.
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Complex roles of the actin-binding protein Girdin/GIV in DNA damage-induced apoptosis of cancer cells
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Prophylactic treatment of rapamycin ameliorates naturally developing and episode -induced heterotopic ossification in mice expressing human mutant ACVR1
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The CST complex facilitates cell survival under oxidative genotoxic stress
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Characteristics of cortical spreading depression and c-Fos expression in transgenic mice having a mutation associated with familial hemiplegic migraine 2 (本文)
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Identification of a novel causative mutation in KRT1 in diffuse palmoplantar keratoderma, facilitated by whole-exome sequencing
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Study of Mitochonic Acid 5 to improve neuromuscular dysfunction associated with aging and diseases using C. elegans
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MECHANISTIC ANALYSIS OF THE INITIATION OF RETROVIRAL GENE SILENCING BY REPROGRAMMING FACTORS
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Conserved Double Translation Initiation Site for Δ160p53 Protein Hints at Isoform’s Key Role in Mammalian Physiology
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Identification of novel mutations and reassignment of archival xeroderma pigmentosum group C cell strains from Japanese patients
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Wilson’s disease model establishment from human induced pluripotent stem cells
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Genetic screening for malignant hyperthermia and comparison of clinical symptoms in Japan
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Genetic screening for malignant hyperthermia and comparison of clinical symptoms in Japan
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Study of the Effects of Inhibition of Epigenetic Regulators on the Proliferation of Hematological Malignant Tumor Cells
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Comprehensive analysis of full-length transcripts reveals novel splicing abnormalities and oncogenic transcripts in liver cancer
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Malfunctioning CD106-positive, short-term hematopoietic stem cells trigger diabetic neuropathy in mice by cell fusion.
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Structure-based screening combined with computational and biochemical analyses identified the inhibitor targeting the binding of DNA Ligase 1 to UHRF1
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Mechanisms by which Bacterial and Viral Pathogens cause Ovarian dysfunction
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miR-142 induces accumulation of reactive oxygen species (ROS) by inhibiting pexophagy in aged bone marrow mesenchymal stem cells
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Cell migration is impaired in XPA-deficient cells
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Tenascin C Aggravates Autoimmune Myocarditis via Dendritic Cell Activation and Th17 Cell Differentiation
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Characterization of the Anticancer Activities of Some Natural and Synthetic Compounds: Molecular Targets and Mechanism
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Study on the role of CtBP2 in pancreatic β cell
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Chemical biology studies on nucleic acid recognition, modification, and secondary structures
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Immunohistochemical assessment of sex-determining region Y (SRY)-related high mobility group (HMG)-box 2 (Sox2) and Krüppel-like factor 4 (Klf4) in ameloblastomas
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Dilated cardiomyopathy-linked heat shock protein family D member 1 mutations cause up-regulation of reactive oxygen species and autophagy through mitochondrial dysfunction (本文)
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Azacitidine is a potential therapeutic drug for pyridoxine-refractory female X-linked sideroblastic anemia
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A novel NCSTN missense mutation in the signal peptide domain causes hidradenitis suppurativa, which has features characteristic of an autoinflammatory keratinization disease
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Genetic and chemical inhibition of IRF5 suppresses pre-existing mouse lupus-like disease
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PML-RARαはMED1との結合を介して全トランス型レチノイン酸依存性の転写活性化を誘導する
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Differentiation of hypertrophic chondrocytes from human iPSCs for the in vitro modeling of chondrodysplasias
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Discovery and biological significance of the sialate:O-sulfotransferases in vertebrates
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Efficacious Combination Drug Treatment for Colorectal Cancer that Overcomes Resistance to KRAS G12C Inhibitors
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Lionheart LincRNA alleviates cardiac systolic dysfunction under pressure overload
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Networking and Specificity-Changing DNA Methyltransferases in Helicobacter pylori.