「Wilson’s disease model establishment from human induced pluripotent stem cells」の関連論文
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Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency
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UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes
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Reverse Genetic Studies on Mitochondrial tRNA-related Disorders
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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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Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency
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Lack of association between seropositivity of vasculopathy-related viruses and moyamoya disease
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Efficacious Combination Drug Treatment for Colorectal Cancer that Overcomes Resistance to KRAS G12C Inhibitors
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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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An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome
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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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Human induced pluripotent stem cells generated from a patient with idiopathic basal ganglia calcification
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Optimized sonoreactor for accelerative amyloid-fibril assays through enhancement of primary nucleation and fragmentation
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Studies on the pathological mechanism of alopecia areata in C3H/HeJ mouse model
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Circulatory C-type natriuretic peptide reduces mucopolysaccharidosis-associated craniofacial hypoplasia in vivo
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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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Streptomycin and ethambutol resistance associated mutations of multidrug-resistant Mycobacterium tuberculosis clinical isolates in Lusaka, Zambia
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Improvement of mouse genome editing protocol and the application:investigation of the physiological roles of glycine receptor alpha 4 subunit.
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Discovery and biological significance of the sialate:O-sulfotransferases in vertebrates
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Establishment and Application of Anti-CD20 Monoclonal Antibodies using the Cell-based Immunization and Screening Method for the Detection of B Cells
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Collective fusion activity determines neurotropism of an en bloc transmitted enveloped virus
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Clinical and genetic features of cystic fibrosis in Japan
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Elucidation of cause and natural feature of cheating rhizobia, and host defense mechanism against them
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Studies on Thermoregulation and Growth Performance in Chicks with av-UCP mutation
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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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Structural and biochemical study on the dual coenzyme (NADP+/NAD+) specific isocitrate dehydrogenase from Trypanosoma brucei glycosome
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Identification of calcium and integrin-binding protein 1 (CIB1) as a novel regulator of production of Amyloid β peptide using CRISPR/Cas9-based screening system
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Variation of body weight and seasonal reproduction in populations from different latitudes: genetic analyses using wild-derived medaka fish
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Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
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Case report: Late middle-aged features of FAM111A variant, Kenny–Caffey syndrome type 2-suggestive symptoms during a long follow-up
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FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients
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Comprehensive analysis of full-length transcripts reveals novel splicing abnormalities and oncogenic transcripts in liver cancer
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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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Molecular Mechanism of Quinclorac Resistance in Multiple-Herbicide Resistant Echinochloa phyllopogon
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Functional studies of the egg cortical alveolus proteases on fertilization of medaka
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Site-directed mutagenesis study of host and viral proteins : single nucleotide variants of human TBK1 and functional sites of ebolavirus VP35
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Downregulation of endothelial nitric oxide synthase (eNOS) and endothelin-1 (ET-1) in a co-culture system with human stimulated X-linked CGD neutrophils
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Downregulation of endothelial nitric oxide synthase (eNOS) and endothelin-1 (ET-1) in a co-culture system with human stimulated X-linked CGD neutrophils
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Interactions of amyloid coaggregates with biomolecules and its relevance to neurodegeneration
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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 and characterization of substrates crosslinked by transglutaminases in liver and kidney fibrosis
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Identification and analysis of mechanisms that bypass the essentiality of Polo, a mitotic regulator
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A clinical and genetic study of SPG31 in Japan
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Evolutionary genetics of socioemotional behavior in humans and other mammals
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Mechanisms by which Bacterial and Viral Pathogens cause Ovarian dysfunction
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An autopsy case of primary gliosarcoma with multiple extracranial metastases: pathology after administration of bevacizumab and genetic profile
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Natural genetic transformation mediates MRSA emergence
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Observing the nonvectorial yet cotranslational folding of a multidomain protein, LDL receptor, in the ER of mammalian cells.
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Two effects of GATA2 enhancer repositioning by 3q chromosomal rearrangements.
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Identifying Potentially Beneficial Genetic Mutations Associated with Monophyletic Selective Sweep and a Proof-of-Concept Study with Viral Genetic Data