Results 71 to 80 of about 21,934 (176)
Fragile X mental retardation protein interacts with TDG
Chinese Science Bulletin, 2000 Fragile X syndrome is the most common form of inherited mental retardation disease, resulting from absent of expression of its disease geneFMR1. To study the function of the fragile X mental retardation protein (FMRP) through protein/protein interaction, a mouse embryo cDNA library was screened by the yeast two-hybrid system.
Yuting Chen +6 more
openaire +1 more source
A quantitative homogeneous assay for fragile X mental retardation 1 protein [PDF]
Journal of Neurodevelopmental Disorders, 2013 Abstract Background Hypermethylation of the fragile X mental retardation 1 gene FMR1 results in decreased expression of FMR1 protein FMRP, which is the underlying cause of Fragile X syndrome – an incurable neurological disorder characterized by mental retardation, anxiety, epileptic episodes and autism.
Schutzius, Gabi +5 more
openaire +2 more sources
Hair root FMRP expression for screening of fragile X full mutation females [PDF]
Universa Medicina, 2011 The fragile X syndrome is the most common form of inherited mental retardation in humans, caused by an expansion of the cytosine-guanine-guanine (CGG) repeat in the fragile X mental retardation 1 (FMR1) gene located on the X chromosome.
Lantip Rujito +5 more
doaj
Neural Plasticity, 2001 The Fragile X syndrome, a common form of mental retardation in humans, is caused by silencing the fragile X mental retardation (FMR1) geneleading to the absence of the encoded fragile X mental retardation protein 1 (FMRP).
Michael Gruss, Katharina Braun
doaj +1 more source
Frontiers in Synaptic Neuroscience, 2018 Dopamine receptors and related signaling pathways have long been implicated in pathophysiology and treatment of mental illnesses, including schizophrenia and bipolar disorder.
Jivan Khlghatyan +3 more
doaj +1 more source
Communications Biology, 2021 Shen et al. propose a mechanism for the metastasis of hepatocellular carcinoma (HCC) cells through the localization and translation modulation of the STAT3 oncogene by fragile X mental retardation protein (FMRP).
Zhifa Shen +10 more
doaj +1 more source
The molecular basis of the Fragile X syndrome
Journal of Experimental and Molecular Biology, 2023 This analysis aimed to clarify the molecular basis of fragile X syndrome and explain the role of genetic material in the genetic disease's development and treatment. Fragile X syndrome is an X-linked mutation inheritance disorder.
Harem Othman smail
doaj +1 more source
A Quantitative ELISA Assay for the Fragile X Mental Retardation 1 Protein [PDF]
The Journal of Molecular Diagnostics, 2009 Non-coding (CGG-repeat) expansions in the fragile X mental retardation 1 (FMR1) gene result in a spectrum of disorders involving altered neurodevelopment (fragile X syndrome), neurodegeneration (late-onset fragile X-associated tremor/ataxia syndrome), or primary ovarian insufficiency. While reliable and quantitative assays for the number of CGG repeats
Christine, Iwahashi +7 more
openaire +2 more sources
Fragile X-Associated Neuropsychiatric Disorders (FXAND)
Frontiers in Psychiatry, 2018 Fragile X syndrome (FXS) is caused by the full mutation (>200 CGG repeats) in the Fragile X Mental Retardation 1 (FMR1) gene. It is the most common inherited cause of intellectual disability (ID) and autism.
Randi J. Hagerman +11 more
doaj +1 more source
Conformational-Dependent and Independent RNA Binding to the Fragile X Mental Retardation Protein
Journal of Nucleic Acids, 2011 The interaction between the fragile X mental retardation protein (FMRP) and BC1 RNA has been the subject of controversy. We probed the parameters of RNA binding to FMRP in several ways. Nondenaturing agarose gel analysis showed that BC1 RNA transcripts
Xin Yan, Robert B. Denman
doaj +1 more source