Search Results - "Bakker, Cathy E."
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Altered Differentiation of Neural Stem Cells in Fragile X Syndrome
Published in Proceedings of the National Academy of Sciences - PNAS (06-12-2005)“…Fragile X syndrome, a common form of inherited mental retardation, is caused by the absence of the fragile X mental retardation protein (FMRP) due to a…”
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Spatial learning, contextual fear conditioning and conditioned emotional response in Fmr1 knockout mice
Published in Behavioural brain research (20-12-2000)“…Fmr1 knockout mice are an animal model for fragile X syndrome, the most common form of heritable mental retardation in humans. Fmr1 knockout mice exhibit…”
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BDNF Regulates the Expression of Fragile X Mental Retardation Protein mRNA in the Hippocampus
Published in Neurobiology of disease (01-10-2002)“…Both fragile X mental retardation protein (FMRP) and brain-derived neurotrophic factor (BDNF) are implicated in the maturation of neurons and in the higher…”
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Macroorchidism in FMR1 Knockout Mice Is Caused by Increased Sertoli Cell Proliferation during Testicular Development
Published in Endocrinology (Philadelphia) (01-01-1998)“…Abstract The fragile X syndrome is the most frequent hereditary form of mental retardation. This X-linked disorder is, in most cases, caused by an unstable and…”
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Neuroanatomy of the fragile X knockout mouse brain studied using in vivo high resolution magnetic resonance imaging
Published in European journal of human genetics : EJHG (01-07-1999)“…Magnetic resonance imaging (MRI) of the brain of fragile X patients, the most frequent form of inherited mental retardation, has revealed abnormalities in the…”
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Audiogenic seizure susceptibility is reduced in fragile X knockout mice after introduction of FMR1 transgenes
Published in Experimental neurology (2007)“…The Fmr1 knockout (KO) mouse is characterized by an increased audiogenic seizure (AGS) susceptibility and is considered a good animal model for epilepsy and…”
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Synergistic Effect of Histone Hyperacetylation and DNA Demethylation in the Reactivation of the FMR1 Gene
Published in Human molecular genetics (01-11-1999)“…Most fragile X syndrome patients have expansion of a (CGG)n sequence with >200 repeats (full mutation) in the FMR1 gene responsible for this condition…”
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Immunocytochemical and Biochemical Characterization of FMRP, FXR1P, and FXR2P in the Mouse
Published in Experimental cell research (10-07-2000)“…Fragile X syndrome is caused by the absence of expression of the FMR1 gene. Both FXR1 and FXR2 are autosomal gene homologues of FMR1. The products of the three…”
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Characterization and localization of the FMR-1 gene product associated with fragile X syndrome
Published in Nature (London) (24-06-1993)“…The fragile X syndrome is the most frequent form of inherited mental retardation after Down's syndrome, having an incidence of one in 1,250 males. The fragile…”
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Different Targets for the Fragile X-Related Proteins Revealed by Their Distinct Nuclear Localizations
Published in Human molecular genetics (01-05-1999)“…Fragile X syndrome is caused by the absence of the fragile X mental retardation protein (FMRP). FMRP and its structural homologues FXR1P and FXR2P form a…”
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Knockout mouse model for Fxr2: a model for mental retardation
Published in Human molecular genetics (01-03-2002)Get full text
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No evidence for disruption of normal patterns of mRNA localization in dendrites or dendritic transport of recently synthesized mRNA in FMR1 knockout mice, a model for human fragile-X mental retardation syndrome
Published in Neuroreport (16-02-1998)“…RECENT studies have revealed that FMRP, the gene product of the fragile-X gene FMR1, is an RNA-binding protein. These and other data have led to the idea that…”
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Knockout mouse model for Fxr2: a model for mental retardation
Published in Human molecular genetics (01-03-2002)“…Fragile X syndrome is a common form of mental retardation caused by the absence of the FMR1 protein, FMRP. Fmr1 knockout mice exhibit a phenotype with some…”
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Long-term potentiation in the hippocampus of fragile X knockout mice
Published in American journal of medical genetics (09-08-1996)“…To gain more insight in the physiological function of the fragile X gene (FMR1) and the mechanisms leading to fragile X syndrome, the Fmr1 gene has been…”
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Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease
Published in Human molecular genetics (1998)“…Glycogen storage disease type II (GSDII; Pompe disease), caused by inherited deficiency of acid alpha-glucosidase, is a lysosomal disorder affecting heart and…”
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Characterization of FMR1 proteins isolated from different tissues
Published in Human molecular genetics (01-05-1995)“…FMR1 protein expression was studied in different tissues. In human, monkey and murine tissues, high molecular mass FMR1 proteins (67-80 kDa) are found, as…”
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Macroorchidism in FMR1 Knockout Mice Is Caused by Increased Sertoli Cell Proliferation during Testicular Development1
Published in Endocrinology (Philadelphia) (01-01-1998)“…The fragile X syndrome is the most frequent hereditary form of mental retardation. This X-linked disorder is, in most cases, caused by an unstable and…”
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Mean corpuscular hemoglobin is not increased in Fmr1 knockout mice
Published in Human genetics (1996)“…A slight increase in mean corpuscular hemoglobin (MCH) has been reported in erythrocytes from human fragile X patients. As it is difficult to perform…”
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Transgenic mouse model for the fragile X syndrome
Published in American journal of medical genetics (09-08-1996)“…Transgenic fragile X knockout mice have been constructed to provide an animal model to study the physiologic function of the fragile X gene (FMR1) and to gain…”
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