13 research outputs found

    Investigation of affecting parameters of Electrophoretic deposition (EPD) method in (Bi0.5Na0.5)TiO3-Hexagonal BaTiO3 and their properties

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    Nowadays, eco-friendly materials have been attracting attention worldwide since the legislation of RoHS/WEEE directives in Europe. (Bi0.5Na0.5)TiO3-BaTiO3 (BNT-BT) systems are well known candidate of lead-free piezoelectric materials. However, BNT-BT systems have relatively low piezoelectric constant (d33 ~ 140 pC/N) which is difficult to apply in commercial products. In spite of this problem, BNT-BT systems have good potential because it is easy to apply mass production. Electrophoretic deposition method (EPD) has good advantage in mass production because size and shape of green ceramics is easily controlled by control of electrode. Moreover, it is reported that EPD method can be fabricated textured ceramics using high magnetic field and texture technique is important in enhancing piezoelectric properties. Our final goal is making [111] oriented BNT-BT ceramics which have enhanced piezoelectric properties and appreciate for mass production. Please click Additional Files below to see the full abstract

    A Novel Homozygous Mutation of Thyroid Peroxidase Gene Abolishes a Disulfide Bond Leading to Congenital Hypothyroidism

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    Congenital hypothyroidism (CH) is the most prevalent congenital endocrine disorder and causes mental retardation. A male Japanese patient with first cousin marriage parents was diagnosed as CH at 10 months. He was born before introduction of mass screening for CH. With continuous thyroid hormone replacement therapy, normal thyroid hormone status was maintained until adulthood. Genetic screening of next-generation sequencing was performed at the age of 52 years, and we identified a new homozygous thyroid peroxidase (TPO) gene mutation (GRCh38.p13, chromosome 2 at position 1493997, c.1964 G>T, p.Cys655Phe). TPO is an important enzyme to produce thyroid hormone. As demonstrated by a homology analysis of TPO proteins among different species, cysteine 655 residue is highly conserved, suggesting an important role in maintaining TPO function and structure. An in silico study with three-dimensional structure of the novel mutation was performed and suggested that the mutation abolished disulfide bond between cysteines at positions 598 and 655. An in vitro functional analysis using HEK293 cells revealed that TPO activity of the mutant was significantly impaired compared with that of the wild type. Furthermore, study of immunohistochemistry showed that localization of TPO in cells did not differ between the wild type and the mutant. In conclusion, this single disulfide bond loss mutation of a new TPO homozygous mutation, p.Cys655Phe, reduced TPO activity and caused congenital hypothyroidism without affecting subcellular localization of TPO proteins
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