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Article
Open AccessRapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing
We developed a diagnostic method for repeat expansion diseases using a long-read sequencer to improve currently available, low throughput diagnostic methods. We employed the real-time target enrichment system ...
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Article
Medium-chain triglycerides supplement therapy with a low-carbohydrate formula can supply energy and enhance ammonia detoxification in the hepatocytes of patients with adult–onset type II citrullinemia
Citrin, encoded by SLC25A13, constitutes the malate-aspartate shuttle, the main NADH-shuttle in the liver. Citrin deficiency causes neonatal intrahepatic cholestasis (NICCD) and adult–onset type II citrullinemia ...
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Article
Open AccessUnique food-entrained circadian rhythm in cysteine414-alanine mutant mCRY1 transgenic mice
Food availability is a potent environmental cue that directs circadian locomotor activity in rodents. Daily scheduled restricted feeding (RF), in which the food available time is restricted for several hours e...
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Article
Open AccessA novel ETFB mutation in a patient with glutaric aciduria type II
Glutaric aciduria type II (GAII) is a rare inborn error of metabolism clinically classified into a neonatal-onset form with congenital anomalies, a neonatal-onset form without congenital anomalies and a mild a...
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Article
Cellular expression and localization of DGKζ-interacting NAP1-like proteins in the brain and functional implications under hypoxic stress
Diacylglycerol kinase (DGK) catalyzes conversion of a lipid second messenger diacylglycerol to another messenger molecule phosphatidic acid. Consequently, DGK plays a pivotal role in cellular pathophysiology b...
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Article
Open AccessPost-natal treatment by a blood-brain-barrier permeable calpain inhibitor, SNJ1945 rescued defective function in lissencephaly
Toward a therapeutic intervention of lissencephaly, we applied a novel calpain inhibitor, SNJ1945. Peri-natal or post-natal treatment with SNJ1945 rescued defective neuronal migration in Lis1+/− mice, impaired be...
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Article
Changes in the cycling of nitrogen, phosphorus, and potassium in a dairy farming system
The objective of this study was to quantify nitrogen (N), phosphorus (P), and potassium (K) use and cycling in a dairy farming system. The data were collected from the experimental farm at the National Institu...
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Article
Improvement of nephrotic syndrome by intensive lipid-lowering therapy in a patient with lipoprotein glomerulopathy
Lipoprotein glomerulopathy (LPG) is a rare hereditary disease characterized by the accumulation of much thrombi material consisting of lipoproteins at the glomerular capillary lumen. Most patients show nephrot...
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Article
Cardiac Ion Channel Gene Mutations in Sudden Infant Death Syndrome
Sudden infant death syndrome (SIDS) is multifactorial and may result from the interaction of a number of environmental, genetic, and developmental factors. We studied three major genes causing long QT syndrome...
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Article
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy
Early infantile epileptic encephalopathy with suppression-burst (EIEE), also known as Ohtahara syndrome, is one of the most severe and earliest forms of epilepsy1. Using array-based comparative genomic hybridizat...
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Article
De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: unequal sister chromatid exchange during paternal gametogenesis
The expansion of polyalanine repeats is known to cause at least nine disorders, including congenital central hypoventilation syndrome (CCHS). Unequal crossover has been speculated as the expanding mechanism, i...
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Article
Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease
Periaxin (PRX) plays an important role in the myelination of the peripheral nerve and consequently in the pathogenesis of Charcot-Marie-Tooth disease (CMT). To date, nine nonsense or frameshift PRX mutations have...
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Article
Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy
Heat shock protein 27 (HSP27) belongs to a family of small heat shock proteins that play significant roles in the cellular stress response and are also involved in the control of protein–protein interactions a...
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Article
Cross-talk between β1-adrenoceptors and ETA receptors in modulation of the slow component of delayed rectifier K+ currents
Delayed rectifier K+ currents (IK) play a critical role in determining cardiac action potential duration (APD). Modulation of IK affects cardiac excitability critically. There are three components of cardiac dela...
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Article
Mitochondrial GTPase mitofusin 2 mutation in Charcot–Marie–Tooth neuropathy type 2A
Charcot–Marie–Tooth disease (CMT) has been classified into two types, CMT1 and CMT2, demyelinating and axonal forms, respectively. CMT2 has been further subdivided into eight groups by linkage studies. CMT2A i...
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Article
Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease
Periaxin (PRX) plays a significant role in the myelination of the peripheral nerve. To date, seven non-sense or frameshift PRX mutations have been reported in six pedigrees with Dejerine-Sottas neuropathy or seve...
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Article
Successful unrelated donor bone marrow transplantation for shwachman-diamond syndrome with leukemia
Shwachman-Diamond syndrome (SDS) is a rare congenital disorder featuring exocrine pancreatic insufficiency, growth retardation, and bone marrow dysfunction. Reports suggest that nearly 25% of all cases are com...
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Article
Molecular analysis of congenital central hypoventilation syndrome
Congenital central hypoventilation syndrome (CCHS or Ondine’s curse; OMIM 209880) is a disorder characterized by an idiopathic failure of the automatic control of breathing. CCHS is frequently complicated with...
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Article
Neonatal Hyperbilirubinemia in Japanese Neonates: Analysis of the Heme Oxygenase-1 Gene and Fetal Hemoglobin Composition in Cord Blood
Neonatal hyperbilirubinemia is frequent and severe in Japanese infants. Although the G71R mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene is associated with severe neonatal hyperbili...
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Article
Haemophagocytic lymphohistiocytosis following measles vaccination
A 19-month-old girl developed haemophagocytic lymphohistiocytosis following a measles vaccination. She developed persistent high fever 1 week after vaccination, and then showed pancytopenia, liver dysfunction ...
