Search Results - "NISHIMURA, Yutaka"
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Novel PHOX2B mutations in congenital central hypoventilation syndrome
Published in Pediatrics international (01-04-2019)“…Background Congenital central hypoventilation syndrome (CCHS) is caused by mutation of paird‐like homeobox 2B (PHOX2B). Approximately 90% of patients were…”
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Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance
Published in Clinical epigenetics (05-10-2024)“…Multi-locus imprinting disturbance (MLID) with methylation defects in various differentially methylated regions (DMRs) has recently been identified in…”
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Mesenteric Myxofibrosarcoma: A Case Report
Published in Journal of the Anus, Rectum and Colon (30-07-2020)“…Myxofibrosarcoma is a soft tissue sarcoma that occurs in elderly patients. Primary myxofibrosarcoma rarely arises in the mesentery; this is the fourth known…”
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Effects of the early administration of sivelestat sodium on bronchopulmonary dysplasia in infants: A retrospective cohort study
Published in Early human development (01-12-2017)“…Chorioamnionitis, or infiltration of the chorioamnion by neutrophils, is a risk factor associated with the development of bronchopulmonary dysplasia. Increased…”
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Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation
Published in Science advances (01-01-2021)“…Reversible modification of proteins with linkage-specific ubiquitin chains is critical for intracellular signaling. Information on physiological roles and…”
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A Quality Improvement Collaborative Program for Neonatal Pain Management in Japan
Published in Advances in neonatal care (01-06-2017)“…BACKGROUND:Neonatal pain management guidelines have been released; however, there is insufficient systematic institutional support for the adoption of…”
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Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation
Published in International journal of neonatal screening (07-07-2021)“…Neonatal screening (NS) for methylmalonic acidemia uses propionylcarnitine (C3) as a primary index, which is insufficiently sensitive at detecting…”
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Discovery of 1-oxa-4,9-diazaspiro[5.5]undecane-based trisubstituted urea derivatives as highly potent soluble epoxide hydrolase inhibitors and orally active drug candidates for treating of chronic kidney diseases
Published in Bioorganic & medicinal chemistry letters (15-01-2014)“…We identified 1-oxa-4,9-diazaspiro[5.5]undecane-based trisubstituted ureas as highly potent soluble epoxide hydrolase (sEH) inhibitors and orally active agents…”
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Discovery of 2,8-diazaspiro[4.5]decane-based trisubstituted urea derivatives as highly potent soluble epoxide hydrolase inhibitors and orally active drug candidates for treating hypertension
Published in Bioorganic & medicinal chemistry letters (01-11-2013)“…We identified 2,8-diazaspiro[4.5]decane-based trisubstituted urea derivatives as highly potent soluble epoxide hydrolase (sEH) inhibitors and orally active…”
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(3 R)-3-Amino-4-(2,4,5-trifluorophenyl)- N-{4-[6-(2-methoxyethoxy)benzothiazol-2-yl]tetrahydropyran-4-yl}butanamide as a potent dipeptidyl peptidase IV inhibitor for the treatment of type 2 diabetes
Published in Bioorganic & medicinal chemistry (15-10-2008)“…Novel series of 3-amino- N-(4-aryl-1,1-dioxothian-4-yl)butanamides and 3-amino- N-(4-aryltetrahydropyran-4-yl)butanamides were synthesized and evaluated as…”
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Development of a New Enzymatic Diagnosis Method for Very-long-chain Acyl-CoA Dehydrogenase Deficiency by Detecting 2-Hexadecenoyl-CoA Production and its Application in Tandem Mass Spectrometry-based Selective Screening and Newborn Screening in Japan
Published in Pediatric research (01-12-2008)“…The introduction of tandem mass spectrometry (MS/MS) has made it possible to screen for very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. To confirm…”
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A Case of Rectal Cancer with Lymphangiosis Carcinomatosa Successfully Treated with Chemotherapy Despite Anaphylactic Reaction to Oxaliplatin
Published in Gan to kagaku ryoho (01-12-2015)“…A 64-year-old man was admitted because of dyspnea. He was diagnosed with rectal cancer with lymphangiosis carcinomatosa and metastases in the liver and lymph…”
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Effects of citrin deficiency in the perinatal period: Feasibility of newborn mass screening for citrin deficiency
Published in Pediatric research (01-10-2004)“…Deficiency of citrin due to mutations of the SLC25A13 gene causes adult-onset type II citrullinemia (CTLN2) and one type of neonatal intrahepatic cholestasis…”
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Betaine and homocysteine concentrations in foods
Published in Pediatrics international (01-08-2002)“…Background : Betaine (Bet) supplementation is an effective strategy for dietary treatment of homocystinuria. However,previous reports on diet therapy have only…”
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Enzymatic diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by detecting 2-octenoyl-CoA production using high-performance liquid chromatography: A practical confirmatory test for tandem mass spectrometry newborn screening in Japan
Published in Journal of chromatography. B, Analytical technologies in the biomedical and life sciences (05-09-2005)“…Many of the previously described enzymatic assay methods for the diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency have been dependent upon…”
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A New Synthesis of (−)-Frontalin, the Bark Beetle Pheromone
Published in European journal of organic chemistry (01-02-1998)“…(−)‐Frontalin [(1S,5R)‐1,5‐dimethyl‐6,8‐dioxabicyclo[3.2.1]‐ octane (1)] was synthesized from ethyl 2‐oxocyclopentane‐1‐carboxylate (2) as the starting…”
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Metastable congested states in multisegment traffic cellular automaton
Published in Journal of the Physical Society of Japan (01-01-2006)“…We investigate a simple multisegment cellular automaton model of traffic flow. With the introduction of segment-dependent acceleration probability, metastable…”
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Establishment of a practical enzymatic assay method for determination of isovaleryl-CoA dehydrogenase activity using high-performance liquid chromatography
Published in Clinica chimica acta (01-03-2005)“…Isovaleric acidemia (IVA) is one of the various target disorders for tandem mass spectrometry (MS/MS) newborn screening. In the diagnosis of IVA, no enzymatic…”
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Prophylactic sildenafil to prevent bronchopulmonary dysplasia: A systematic review and meta-analysis
Published in Pediatrics international (01-01-2024)“…Bronchopulmonary dysplasia (BPD) persists as one of the foremost factors contributing to mortality and morbidity in extremely preterm infants. The…”
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