53 research outputs found

    Human induced pluripotent stem cells generated from a patient with idiopathic basal ganglia calcification

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    Idiopathic basal ganglia calcification (IBGC) is a rare neurodegenerative disease, characterized by abnormal calcium deposits in basal ganglia of the brain. The affected individuals exhibit movement disorders, and progressive deterioration of cognitive and psychiatric ability. The genetic cause of the disease is mutation in one of several different genes, SLC20A2, PDGFB, PDGFRB, XPR1 or MYORG, which inheritably or sporadically occurs. Here we generated an induced pluripotent stem cell (iPSC) line from an IBGC patient, which is likely be a powerful tool for revealing the pathomechanisms and exploring potential therapeutic candidates of IBGC

    Establishment of induced pluripotent stem cells from schizophrenia discordant fraternal twins

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    Schizophrenia (SCZ) is one of the major psychiatric disorders. The genetic factor is certainly influential in the onset of the disease but is not decisive. There is no identified molecular/cellular marker of the disease, and the pathomechanism is still unknown. In this study, we generated human induced pluripotent stem cells (iPSCs) derived from SCZ-discordant fraternal twins, and they could contribute to elucidation of the pathomechanism of SCZ

    愛知県の地盤

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    金沢大学先端科学・社会共創推進機

    Generation of a human induced pluripotent stem cell line, BRCi009-A, derived from a patient with glycogen storage disease type 1a

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    Glycogen storage disease type 1a (GSD1a) is an autosomal recessive disorder caused by mutations of the glucose-6-phosphatase (G6PC) gene. Mutations of the G6PC gene lead to excessive accumulation of glycogen in the liver, kidney, and intestinal mucosa due to the deficiency of microsomal glucose-6-phosphatase.Human induced pluripotent stem cells (iPSCs) enable the production of patient-derived hepatocytes in culture and are therefore a promising tool for modeling GSD1a. Here, we report the establishment of human iPSCs from a GSD1a patient carrying a G6PC mutation (c.648G > T; p.Leu216 = )

    Knowledge of regulation of emotional expression in childhood : In the case of emotion expression corresponding to other persons

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    The purpose of this study was to examine the development of children's emotion regulation that expression corresponding to the feeling of other person and also to examine the reason of emotion regulation. Subjects were boys and girls students in 1st(N=40), 3rd(N=37), 5th(N=35) grade. Subjects were asked about the facial expression of a protagonist when that is facing a friend with express happiness, sadness and anger. Also subjects were asked to answer the suitable reason that the protagonist regulated the emotion (prosocial, self-protect and norm). Results revealed that happiness and sadness did not have the age difference. However, as for anger, the third grader and the fifth grader showed the same feeling as other persons like the adult. On the other hand, a first grader does not show the same feeling as other persons
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