「Reverse Genetic Studies on Mitochondrial tRNA-related Disorders」の関連論文
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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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Improvement of mouse genome editing protocol and the application:investigation of the physiological roles of glycine receptor alpha 4 subunit.
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Evolutionary genetics of socioemotional behavior in humans and other mammals
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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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Lack of impact of the ALDH2 rs671 variant on breast cancer development in Japanese BRCA1/2‐mutation carriers
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Studies on Age-related Changes of Lipid Metabolisms
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Prenatal diagnosis of severe mitochondrial disease caused by nuclear gene defects: a study in Japan
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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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Study on the role of CtBP2 in pancreatic β cell
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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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Mechanisms by which Bacterial and Viral Pathogens cause Ovarian dysfunction
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Constitutively active signaling of MDA5 in Treg cells causes apoptosis of Treg cells and results in autoimmune diseases
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Large-scale discovery of male reproductive tract-specific genes through analysis of RNA-seq datasets
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Studies on Thermoregulation and Growth Performance in Chicks with av-UCP mutation
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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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Lionheart LincRNA alleviates cardiac systolic dysfunction under pressure overload
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Circulatory C-type natriuretic peptide reduces mucopolysaccharidosis-associated craniofacial hypoplasia in vivo
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Analysis of Anti-metabolic Syndrome Effect of Kaempferol in TSOD Mice
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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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Differentiation of hypertrophic chondrocytes from human iPSCs for the in vitro modeling of chondrodysplasias
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Studies on the pathological mechanism of alopecia areata in C3H/HeJ mouse model
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Analyses of genetic and retinal lesions in Ccdc85c knockout rats: a rat model of genetic hydrocephalus
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Gut bacteria identified in colorectal cancer patients promote tumourigenesis via butyrate secretion
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Interactions of amyloid coaggregates with biomolecules and its relevance to neurodegeneration
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Wilson’s disease model establishment from human induced pluripotent stem cells
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Malfunctioning CD106-positive, short-term hematopoietic stem cells trigger diabetic neuropathy in mice by cell fusion.
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Physiological and Pathological Mitochondrial Clearance Is Related to Pectoralis Major Muscle Pathogenesis in Broilers With Wooden Breast Syndrome
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Combined landscape of single-nucleotide variants and copy number alterations in clonal hematopoiesis
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Novel genes and variants associated with congenital pituitary hormone deficiency in the era of next-generation sequencing
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Development of genetic management methods for rice varieties and prediction of spontaneous mutation frequencies using next-generation sequencing technology [an abstract of entire text]
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The generation and insights of an inducible diabetes mellitus mouse model based on MafA and MafB double knockout
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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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Remote solid cancers rewire hepatic nitrogen metabolism via host nicotinamide-N-methyltransferase
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Analysis of aging-related epigenetic modifications in murine male germline cells
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Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency
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BRCA1 haploinsufficiency promotes chromosomal amplification under Fenton reaction-based carcinogenesis through ferroptosis-resistance
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The association of thyroglobulin single nucleotide polymorphism with miniature dachshunds-specific inflammatory colorectal polyps and its involvement in interleukin-6 amplifier induced chronic inflammation
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Discovery and biological significance of the sialate:O-sulfotransferases in vertebrates
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A cerebrospinal fluid microRNA analysis: Progressive supranuclear palsy
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Human induced pluripotent stem cells generated from a patient with idiopathic basal ganglia calcification
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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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UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes
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Elucidation of cause and natural feature of cheating rhizobia, and host defense mechanism against them
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Ndufs4 ablation shows an elevated GFAP and a decreased synaptophysin expression in mouse hippocampus.
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Genomic analysis of multiple myeloma using targeted capture sequencing in the Japanese cohort
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The ocular involvement did not accompany with the genital ulcer or the gastrointestinal symptoms at the early stage Behcet’s disease
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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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Studies on Circadian Clock RNA Methylation and Micturition Rhythm