Search Results - "Hirata, Tomoko"
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A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies
Published in PLoS genetics (01-01-2016)“…Mitochondrial disorders have the highest incidence among congenital metabolic disorders characterized by biochemical respiratory chain complex deficiencies. It…”
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Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients
Published in International journal of cardiology (15-10-2021)“…Cardiomyopathy is a risk factor for poor prognosis in pediatric patients with mitochondrial disease. However, other risk factors including genetic factors…”
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Barth Syndrome: Different Approaches to Diagnosis
Published in The Journal of pediatrics (01-02-2018)“…The diagnosis of Barth syndrome is challenging owing to the wide phenotypic spectrum with allelic heterogeneity. Here we report 3 cases of Barth syndrome with…”
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HDR‐del: A tool based on Hamming distance for prioritizing pathogenic chromosomal deletions in exome sequencing
Published in Human mutation (01-12-2017)“…High‐density oligonucleotide arrays have widely been used to detect pathogenic chromosomal deletions. In addition to high‐density oligonucleotide arrays,…”
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Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy
Published in Npj genomic medicine (25-10-2024)“…Repeat expansions cause at least 50 hereditary disorders, including Friedreich ataxia and other diseases known to cause mitochondrial dysfunction. We…”
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Preventive Effect of TRPV1 Agonists Capsaicin and Resiniferatoxin on Ischemia/Reperfusion-induced Renal Injury in Rats
Published in Journal of cardiovascular pharmacology (01-05-2008)“…We evaluated the effect of capsaicin, one of the transient receptor potential vanilloid receptor 1 (TRPV1) agonists, on ischemic acute renal failure (ARF) in…”
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Rapid detection of germline mutations for hereditary gastrointestinal polyposis/cancers using HaloPlex target enrichment and high-throughput sequencing technologies
Published in Familial cancer (01-10-2016)“…Genetic testing for hereditary colorectal polyposis/cancers has become increasingly important. Therefore, the development of a timesaving diagnostic platform…”
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Preventive effect of SA13353 [1-[2-(1-adamantyl)ethyl]-1-pentyl-3-[3-(4-pyridyl)propyl]urea], a novel transient receptor potential vanilloid 1 agonist, on ischemia/reperfusion-induced renal injury in rats
Published in The Journal of pharmacology and experimental therapeutics (01-04-2009)“…Tumor necrosis factor (TNF)-alpha plays a crucial role in the pathogenesis of ischemia/reperfusion-induced renal injury. We demonstrated recently that the…”
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Characterization of putative tryptophan monooxygenase from Ralstonia solanasearum
Published in Journal of biochemistry (Tokyo) (01-07-2009)“…The amino-acid sequence of a putative tryptophan monooxygenase (PTMO) from Ralstonia solanacearum is homologous with that of proenzyme (proPAO) of l-Phe…”
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HUMAN FAMSD-BASE: High Quality Protein Structure Model Database for the Human Genome Using the FAMSD Homology Modeling Method
Published in Chemical & Pharmaceutical Bulletin (01-01-2010)“…Almost all proteins express their biological functions through the structural conformation of their specific amino acid sequences. Therefore, acquiring the…”
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FAMSD: A Powerful Protein Modeling Platform that Combines Alignment Methods, Homology Modeling, 3D Structure Quality Estimation and Molecular Dynamics
Published in Chemical & pharmaceutical bulletin (01-12-2009)“…The prediction of a protein three-dimensional (3D) structure is one of the most important challenges in computational structural biology. We have developed an…”
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New Protein Structure Model Evaluation Methods That Include a Side-Chain Consensus Score for the Protein Modeling
Published in Chemical & pharmaceutical bulletin (01-02-2010)“…Selecting the best quality model from a set of predicted structures is one of the most important aspects of protein structure prediction. We have developed…”
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Trends in admission to a new palliative care unit from home and subjects for the future
Published in Gan to kagaku ryoho (01-12-2013)“…We investigated the trend in admission to new a palliative care unit (PCU) over 9 months. We observed a significant difference in the length of PCU stay…”
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Role of gp91phox-containing NADPH oxidase in left ventricular remodeling induced by intermittent hypoxic stress
Published in American journal of physiology. Heart and circulatory physiology (01-05-2008)“…Intermittent hypoxia due to sleep apnea syndrome is associated with cardiovascular diseases. However, the precise mechanisms by which intermittent hypoxic…”
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Usefulness of a manual on physician behavior at the time of death confirmation
Published in Gan to kagaku ryoho (01-12-2013)“…The behavior of a physician when confirming the death of a patient is thought to greatly affect the bereaved family. The required aspects of a physician's…”
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Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background
Published in International journal of cardiology (15-03-2019)“…Cardiomyopathy is a reported indicator of poor prognosis in children with mitochondrial disease. However, the association between prognosis and the genetic…”
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New Protein Structure Model Evaluation Methods That Include a Side-Chain Consensus Score for the Protein Modeling
Published in Chemical & Pharmaceutical Bulletin (2010)“…Selecting the best quality model from a set of predicted structures is one of the most important aspects of protein structure prediction. We have developed…”
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FAMSD: A Powerful Protein Modeling Platform that Combines Alignment Methods, Homology Modeling, 3D Structure Quality Estimation and Molecular Dynamics
Published in Chemical & Pharmaceutical Bulletin (2009)“…The prediction of a protein three-dimensional (3D) structure is one of the most important challenges in computational structural biology. We have developed an…”
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Improvement in the awareness of palliative care nursing using STAS-J in an acute care hospital
Published in Annals of oncology (01-11-2015)Get full text
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