Results 51 to 60 of about 11,078,474 (189)
RELATIONSHIP BETWEEN FMRP EXPRESSION IN CELL FROM HAIR ROOTS AND BLOOD SMEARS WITH COGNITIVE FUNCTIONING IN FRAGILE X FULL MUTATION FEMALE [PDF]
, 2009 Introduction: Fragile X syndrome is the most common form of inherited mental retardation in humans, caused by an expansion of the (CGG) repeat in the FMR1 gene located on X chromosome.
Rujito, Lantip
core +1 more source
Reducing histone acetylation rescues cognitive deficits in a mouse model of Fragile X syndrome
Nature Communications, 2018 Loss of fragile X mental retardation protein (FMRP) leads to fragile X syndrome, associated with cognitive dysfunction. Here the authors show that mice lacking FMRP show reduced hippocampal neurogenesis and cognitive deficits, which can be rescued by ...
Yue Li +9 more
doaj +1 more source
Fragile X Mental Retardation Protein Regulates Translation by Binding Directly to the Ribosome [PDF]
, 2014 Fragile X syndrome (FXS) is the most common form of inherited mental retardation, and it is caused by loss of function of the fragile X mental retardation protein (FMRP).
Chen, Eileen +4 more
core +1 more source
Hair root FMRP expression for screening of fragile X full mutation females
Universa Medicina, 2016 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 +1 more source
Detection and Quantification of the Fragile X Mental Retardation Protein 1 (FMRP). [PDF]
Genes (Basel), 2016 The final product of FMR1 gene transcription, Fragile X Mental Retardation Protein 1 (FMRP), is an RNA binding protein that acts as a repressor of translation. FMRP is expressed in several tissues and plays important roles in neurogenesis, synaptic plasticity, and ovarian functions and has been implicated in a number of neuropsychological disorders ...
LaFauci G +3 more
europepmc +4 more sources
The Genetic Of Mental Retardation [PDF]
, 2005 Mental retardation is a common problem with major implications for a nation’s health, education and community services. The causes of mental retardation have been found to have a definite etiological basis, which may be biochemical, chromosomal ...
Faradz, Sultana M.H.
core +1 more source
Caracterización de variantes genómicas. Aplicación de nuevas tecnologías al estudio del retraso mental. [PDF]
, 2008 [spa] Estudios recientes han permitido estimar que aproximadamente un 5% del genoma consiste en duplicaciones segmentarias (DS), secuencias de entre 1-100 kb con un nivel de similitud de más del 95% (Eichler, 2001).
Madrigal Bajo, Irene
core +5 more sources
PLoS Genetics, 2015 Fragile X syndrome (FXS) is the most frequent inherited form of mental retardation. The cause for this X-linked disorder is the silencing of the fragile X mental retardation 1 (fmr1) gene and the absence of the fragile X mental retardation protein (Fmrp).
Adi Shamay-Ramot +10 more
doaj +1 more source
Advanced Science, EarlyView.This study shows that propofol modulates fear‐memory reconsolidation in mice. It works by suppressing D2 receptor‐expressing neurons within the medial prefrontal cortex and their connections to the basolateral amygdala. D2‐receptor agonists reproduce this fear‐reducing effect, offering potential non‐anesthetic therapeutic strategies for trauma‐related ...
Jie Li +11 more
wiley +1 more source
Fragile X Mental Retardation Protein expression in the retina is regulated by light. [PDF]
Exp Eye Res, 2016 Fragile X Mental Retardation Protein (FMRP) is a RNA-binding protein that modulates protein synthesis at the synapse and its function is regulated by glutamate. The retina is the first structure that participates in vision, and uses glutamate to transduce electromagnetic signals from light to electrochemical signals to neurons. FMRP has been previously
Guimarães-Souza EM +4 more
europepmc +4 more sources