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
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
Effects of the conjugation of whey proteins with gellan polysaccharides on surfactant-induced competitive displacement from the air-water interface.
Journal of dairy science Aug, 2016 | Pubmed ID: 27265176
Mouse mutation reveals a mechanism involving mitochondrial dynamics that leads to age-dependent retinal pathologies.
eLife Nov, 2016 | Pubmed ID: 27863209
Stabilization of milk proteins in acidic conditions by pectic polysaccharides extracted from soy flour.
Journal of dairy science Oct, 2017 | Pubmed ID: 28755928
The effect of Tmem135 overexpression on the mouse heart.
PloS one , 2018 | Pubmed ID: 30102730
Rheological characteristics and supramolecular structure of the exopolysaccharide produced by Lactobacillus fermentum MTCC 25067.
Carbohydrate polymers Aug, 2019 | Pubmed ID: 31221325
Loss of Chondroitin Sulfate Modification Causes Inflammation and Neurodegeneration in Mice.
Genetics Jan, 2020 | Pubmed ID: 31754016
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
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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