FMR1, FMRP translational regulator 1, 2332

N. diseases: 346; N. variants: 10
Disease: Fragile X Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 CausalMutation disease CLINVAR Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. 1710175 1991
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 CausalMutation disease CLINVAR The fragile X syndromes. 7620122 1995
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE Characteristics of fragile X syndrome include macroorchidism and intellectual disability, which are associated with decreased FMRP levels. 24903624 2014
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE Polycomb group complexes are recruited to reactivated FMR1 alleles in Fragile X syndrome in response to FMR1 transcription. 25055869 2014
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE This study reveals a novel FMRP mechanism controlling neuronal PKA activity, and demonstrates a shared mechanistic connection between FXS and NBEA associated ASD disease states, with a common link to PKA and F-actin misregulation in brain neural circuits. 30771457 2019
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE Systemic treatment with a DNMT inhibitor in mice carrying FXS induced pluripotent stem cell (iPSC)-derived transplants robustly induced FMR1 expression in the affected tissue, which was maintained for a prolonged period of time. 30840878 2019
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE FXS is caused by inactivation of the FMR1 gene located on Xq27.3. 11180223 2000
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE The fragile X syndrome is due to the shutdown of the FMR1 gene transcription, and the pathogenesis of this syndrome is a consequence of absence of the protein product of the FMR1 gene (FMRP). 10341296 1999
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE In fragile X syndrome (FXS) embryos FMRP is widely expressed during early stages of embryogenesis however it is inactivated by the end of the first trimester. 30900178 2019
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE Repairing the genetic mutation in the <i>FMR1</i> gene in an FXS patient cell line restored fragile X mental retardation protein (FMRP) expression and fully rescued synaptic retinoic acid signaling. 30068571 2018
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE As the repeats do not disrupt the FMRP coding sequence, reactivation of endogenous <i>FMR1</i> gene expression could correct the proximal event in FXS pathogenesis. 30158855 2018
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome. 8490651 1993
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE Fragile X syndrome is a neurodevelopmental disorder that is caused by large methylated expansions of a CGG repeat (>200) region upstream of the FMR1 gene that results in the lack of expression of the fragile X mental retardation protein (FMRP). 15629215 2005
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE Chronological age, but not FMRP levels, predicts neuropsychological performance in girls with fragile X syndrome. 16741913 2006
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE However, although FMRP is expressed as early as embryogenesis, relatively little is known about its roles during development or how this may influence FXS phenotypes in adulthood. 20298211 2010
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE FMR1 silencing has many consequences, including up-regulation of metabotropic glutamate receptor 5 (mGluR5)-mediated signaling. mGluR5 receptor antagonists have shown promise in preclinical FXS models and in one small open-label study of FXS. 21209411 2011
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE Because it has been observed that brain metabolism of FMR1 null mice is more sensitive to oxidative stress, we propose that the deregulation of Sod1 expression may be at the basis of several traits of the physiopathology of the Fragile X syndrome, such as anxiety, sleep troubles, and autism. 19166269 2009
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease LHGDN In contrast, demethylation was not observed when cells from unrelated individuals with fragile X syndrome were fused, indicating that FX cells have lost the necessary factor(s) to demethylate the aberrantly methylated FMR1 promoter. 15377638 2004
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE Decreased FMRP levels, more than the number of repeats seem to correlate with the severity of FXS clinical phenotypes. 30450110 2018
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE Our data indicate that cryptic inter-cell mosaicism in DNA methylation can account for the presence of FMR1 mRNA in some individuals with FXS. 21909353 2011
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE In addition, deregulated MuSC activity in the absence of Fmr1 may have implications for fragile X syndrome, which is associated with muscle hypotonia during infancy. 28882193 2017
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE Our understanding of fragile X syndrome can be improved by reversing the expression of the silenced fragile X mental retardation 1 (FMR1) gene in immortalized cells from these patients. 15068386 2003
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE Additionally, this mRNA has been identified as a potential target of the fragile X mental retardation protein (FMRP), whose loss of expression leads to fragile X syndrome. 28612854 2017
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE FMRP deficiency often causes synapse deformity in the neurons essential for cognition and memory activities, while FMR1 inactivation augments metabotropic glutamate receptor (mGluR)-activated long-term depression (LTD), leading to abnormal neuronal responses in FXS. 22779005 2012
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 AlteredExpression disease BEFREE Fragile X syndrome (FXS) results from dynamic mutations leading ultimately to the absence of expression of the Fragile X Mental Retardation Protein (FMRP). 25258112 2014