Kimiaki Uetake

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OBJECTIVE To delineate the significance of maternal uniparental disomy 14 (upd(14)mat) and related disorders in patients with a Prader-Willi syndrome (PWS)-like phenotype. STUDY DESIGN We examined 78 patients with PWS-like phenotype who lacked molecular defects for PWS. The MEG3 methylation test followed by microsatellite polymorphism analysis of(More)
1. The advantages and disadvantages of various housing systems for laying hens were compared as a pilot study for work in commercial conditions. 2. At 16 weeks of age, 284 hens were introduced into one of 6 housing systems: two types of conventional cages (small: SC; large: LC), furnished cages (small: SF; large: LF), and non-cage systems (single-tiered(More)
Sotos syndrome (SoS) is an autosomal dominant overgrowth syndrome with characteristic craniofacial dysmorphic features and various degrees of mental retardation. We previously showed that haploinsufficiency of the NSD1 gene is the major cause of SoS, and submicroscopic deletions at 5q35, including NSD1, were found in about a half (20/42) of our patients(More)
PURPOSE We tested the hypothesis that Sotos syndrome (SoS) due to the common deletion is a contiguous gene syndrome incorporating plasma coagulation factor twelve (FXII) deficiency. The relationship between FXII activity and the genotype at a functional polymorphism of the FXII gene was investigated. METHODS A total of 21 patients including those with the(More)
Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) was purified from human liver. The molecular masses of the native enzyme and the subunit were estimated to be 154 and 70 kD, respectively. The enzyme was found to catalyze the major part of mitochondrial palmitoylcoenzyme A dehydrogenation in liver, heart, skeletal muscle, and skin(More)
1. The objective of the present study was to examine the behaviour of laying hens in single-tiered aviaries with and without outdoor areas with particular reference to the proportion of each behaviour and the ways it changed. 2. In all, 144 interbred cross layers (WL/RIR cross-breed) were used. At the age of 16 weeks, the hens were divided at random into(More)
We report on an 11-year-old boy with familial juvenile nephronophthisis type I associated with cerebellar ataxia and nystagmus, but not with ocular motor apraxia. An MRI revealed hypoplasia of the brainstem and vermis, and an enlargement of the fourth ventricle. A molecular genetic analysis demonstrated a homozygous deletion including the NPHP1 gene. These(More)
1. Based on our previous studies, we designed a medium-sized furnished cage with a dust bath and nest box on both sides of the cage (MFS) and evaluated its usefulness. 2. We used 180 White Leghorn layers. At the age of 17 weeks, the birds were distributed at random into one of the 4 cage designs: conventional cages (CC; 6 cages and 5 hens per cage), small(More)