Department of Medical Genetics,
McPherson Eye Research Institute
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Reduced synaptic vesicle density and aberrant synaptic localization caused by a splice site mutation in the Rs1h gene.
Visual neuroscience , 2006 | Pubmed ID: 17266781
Carbonic anhydrase related protein 8 mutation results in aberrant synaptic morphology and excitatory synaptic function in the cerebellum.
Molecular and cellular neurosciences May, 2007 | Pubmed ID: 17376701
Effect of destrin mutations on the gene expression profile in vivo.
Physiological genomics Jun, 2008 | Pubmed ID: 18381839
Defects in actin dynamics lead to an autoinflammatory condition through the upregulation of CXCL5.
PloS one Jul, 2008 | Pubmed ID: 18628996
Serum response factor is essential for the proper development of skin epithelium.
Mammalian genome : official journal of the International Mammalian Genome Society Feb, 2010 | Pubmed ID: 20047077
Mutation in archain 1, a subunit of COPI coatomer complex, causes diluted coat color and Purkinje cell degeneration.
PLoS genetics May, 2010 | Pubmed ID: 20502676
Gene targeting in the mouse.
Methods in molecular biology (Clifton, N.J.) , 2011 | Pubmed ID: 21805269
Genetic basis of age-dependent synaptic abnormalities in the retina.
Mammalian genome : official journal of the International Mammalian Genome Society Feb, 2015 | Pubmed ID: 25273269
Length regulation of mechanosensitive stereocilia depends on very slow actin dynamics and filament-severing proteins.
Nature communications Apr, 2015 | Pubmed ID: 25897778
A Mutation in Syne2 Causes Early Retinal Defects in Photoreceptors, Secondary Neurons, and Müller Glia.
Investigative ophthalmology & visual science Jun, 2015 | Pubmed ID: 26066746
The Significance of the Discordant Occurrence of Lens Tumors in Humans versus Other Species.
Ophthalmology Sep, 2015 | Pubmed ID: 26130328
Syndactyly in a novel Fras1(rdf) mutant results from interruption of signals for interdigital apoptosis.
Developmental dynamics : an official publication of the American Association of Anatomists Apr, 2016 | Pubmed ID: 26813283
Mouse mutation reveals a mechanism involving mitochondrial dynamics that leads to age-dependent retinal pathologies.
eLife Nov, 2016 | Pubmed ID: 27863209
Metabolomics Identifies Metabolic Markers of Maturation in Human Pluripotent Stem Cell-Derived Cardiomyocytes.
Theranostics , 2017 | Pubmed ID: 28656061
The effect of Tmem135 overexpression on the mouse heart.
PloS one , 2018 | Pubmed ID: 30102730
Loss of Chondroitin Sulfate Modification Causes Inflammation and Neurodegeneration in Mice.
Genetics Jan, 2020 | Pubmed ID: 31754016
Long-term evaluation of retinal morphology and function in a mouse model of oxygen-induced retinopathy.
Molecular vision , 2020 | Pubmed ID: 32256029
Metabolic alterations caused by the mutation and overexpression of the gene.
Experimental biology and medicine (Maywood, N.J.) Nov, 2020 | Pubmed ID: 32515224
Modulation of Tmem135 Leads to Retinal Pigmented Epithelium Pathologies in Mice.
Investigative ophthalmology & visual science Oct, 2020 | Pubmed ID: 33064130
Different Human Immune Lineage Compositions Are Generated in Non-Conditioned NBSGW Mice Depending on HSPC Source.
Frontiers in immunology , 2020 | Pubmed ID: 33193358
The Influence of Mitochondrial Dynamics and Function on Retinal Ganglion Cell Susceptibility in Optic Nerve Disease.
Cells Jun, 2021 | Pubmed ID: 34201955
Retinopathy of prematurity shows alterations in Vegfa isoform expression.
Pediatric research Jun, 2022 | Pubmed ID: 34285351
A mutation in transmembrane protein 135 impairs lipid metabolism in mouse eyecups.
Scientific reports Jan, 2022 | Pubmed ID: 35031662
Transmembrane protein 135 regulates lipid homeostasis through its role in peroxisomal DHA metabolism.
Communications biology Jan, 2023 | Pubmed ID: 36599953
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