Prof. Yoshio Goshima and his colleagues (Molecular Pharmacology and Neurobiology) set up a new hypothesis for the mechanism of the onset of Alzheimer’s disease with dementia.

Posted on Posted in AMRC Research

Date: 29 Aug 2013   Alzheimer’s disease is most common in elderly people affected with dementia. We are expecting a large increase in the incidence rate of dementia and Alzheimer’s disease in the world. Therefore, how to prevent or treat dementia and Alzheimer’s disease is an urgent issue for us. Alzheimer’s disease is characterized by […]

De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

Posted on Posted in AMRC Research

Date: 30 Aug 2013   Heterotrimeric G proteins, composed of α, β, and γ subunits, can transduce a variety of signals from seven-transmembrane-type receptors to intracellular effectors. By whole-exome sequencing and subsequent mutation screening, we identified de novo heterozygous mutations in GNAO1, which encodes a Gαo subunit of heterotrimeric G proteins, in four individuals with […]

DNA Ligase IV and Artemis Act Cooperatively to Suppress Homologous Recombination in Human Cells: Implications for DNA Double-Strand Break Repair

Posted on Posted in AMRC Research

Date: 14 Aug 2013   DNA double-strand breaks (DSBs) can be caused by exogenous and endogenous mechanisms, such as ionizing radiation, reactive oxygen species, or replication fork collapse. Efficient repair of DSBs is thus crucial for cells to maintain genome integrity. Mammalian cells have evolved at least two distinct pathways for repairing DSBs, homologous recombination […]

Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

Posted on Posted in AMRC Research

Date: 12 Jul 2013 Researchers: Satoko Miyatake, Eriko Koshimizu, Noriko Miyake, Namichi Matsumoto   Nemaline myopathy (NEM) is a common congenital myopathy. At the very severe end of the NEM clinical spectrum are genetically unresolved cases of autosomal-recessive fetal akinesia sequence. We studied a multinational cohort of 143 severe-NEM-affected families lacking genetic diagnosis. We performed whole-exome […]

Vascularized and functional human liver from an iPSC-derived organ bud transplant.

Posted on Posted in AMRC Research

Date: 01 Jul 2013   Critical shortage of donor organs for treating end-stage organ failure highlights the urgent need for generating organs from pluripotent stem cells. Despite many reports describing functional “cell” differentiation, no studies have succeeded in generating a three-dimensional vascularized “organ” such as liver so far. Takanori Takebe and Hideki Taniguchi at Yokohama […]

Prof. Tamura (Immunology) and his colleagues identified a critical transcription factor cascade in the development of monocytes, a immune cell type important for innate immune responses, tissue homeostasis, and cancer biology.

Posted on Posted in AMRC Research

Date: 14 Jan 2013   “IRF8 induces the Klf4 gene in myeloid progenitors. This transcription factor cascade is essential for Ly6C+ monocyte development. IRF8 binding to genomic targets promotes H3K4me1, a chromatin signature for promoter-distal enhancers, thereby inducing gene expression.”   Link to abstract   Tomohiko Tamura Professor, Yokohama City University, Department of Immunology, Graduate […]

The Transcription Factor IRF8 Counteracts BCR-ABL to Rescue Dendritic Cell Development in Chronic Myelogenous Leukemia

Posted on Posted in AMRC Research

Date: 18 Nov 2013   BCR-ABL tyrosine kinase inhibitors (TKI) have dramatically improved therapy for chronic myelogenous leukemia (CML). However, several problems leading to TKI resistance still impede a complete cure of this disease. IFN regulatory factor-8 (IRF8) is a transcription factor essential for the development and functions of immune cells, including dendritic cells. Irf8−/− […]