Trichohepatoenteric Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
The reduction/absence of the functional FMRP protein, coded by the X-linked Fmr1 gene in humans, is responsible for the syndrome.
|
31680833 |
2019 |
Trichohepatoenteric Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The reduction/absence of the functional FMRP protein, coded by the X-linked <i>Fmr1</i> gene in humans, is responsible for the syndrome.
|
30815010 |
2019 |
Trichohepatoenteric Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Overall, the study confirms the presence of abnormalities in vocalization behavior in adult Fmr1 KO mice that we believe are consistent with communication deficits seen in the syndrome.
|
28552599 |
2017 |
Trichohepatoenteric Syndrome
|
0.100 |
PosttranslationalModification
|
disease |
BEFREE |
The most common etiology of the syndrome is expansion and methylation of a CGG trinucleotide at chromosome region Xq27.3 involving FMR1 (fragile X mental retardation 1 gene).
|
27667322 |
2016 |
Trichohepatoenteric Syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
In FXS, the fragile X mental retardation 1 (FMR1) gene is silenced and the fragile X mental retardation protein (FMRP) is not expressed, resulting in the characteristic features of the syndrome.
|
24232444 |
2014 |
Trichohepatoenteric Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Here, we show that fragile X (Fmr1) knockout mice display abnormalities in the myelination of cerebellar axons as early as the first postnatal week, corresponding roughly to the equivalent time in human brain development when symptoms of the syndrome first become apparent (1-3 years of age).
|
23740941 |
2013 |
Trichohepatoenteric Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The syndrome is due to mutations of the FMR1 gene that result in the absence of fragile X mental retardation protein (FMRP).
|
23660422 |
2013 |
Trichohepatoenteric Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The predominant cause of the syndrome is the loss of a single protein, FMRP (Fragile X mental retardation protein).
|
20298211 |
2010 |
Trichohepatoenteric Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Since the discovery of the FMR1 gene responsible for the syndrome, molecular, rather than cytogenetic, diagnosis of Fragile X syndrome has become the gold standard.
|
11142752 |
2000 |
Trichohepatoenteric Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Inactivation of the FMR1 promoter and absence of the FMR1 protein are the likely cause of the syndrome.
|
10773084 |
2000 |
Trichohepatoenteric Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
The lack of FMR1 protein is believed to be responsible for the typical physical and mental characteristics of the syndrome.
|
11078566 |
2000 |
Trichohepatoenteric Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The molecular basis is usually the unstable expansion of a CGG trinucleotide repeat in the 5' untranslated region of the first exon of the FMR1 gene, which resides at chromosome position Xq27.3 and is coincident with the cytogenetic fragile site FRAXA, which characterizes the syndrome.
|
9972098 |
1999 |
Trichohepatoenteric Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The syndrome is associated with a CGG repeat expansion in the 5'UTR of the first exon of the FMR1 gene.
|
10674158 |
1999 |
Trichohepatoenteric Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
FMR1 is an RNA-binding protein and the syndrome results from lack of expression of FMR1 or expression of a mutant protein that is impaired in RNA binding.
|
7489725 |
1995 |
Trichohepatoenteric Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
FMR1 encodes an RNA binding protein and the syndrome results from lack of expression of FMR1 or expression of a mutant protein that is impaired in RNA binding.
|
7781595 |
1995 |
Trichohepatoenteric Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Molecular investigations have shown that the syndrome is caused by the amplification of a CGG trinucleotide repeat in the FMR-1 gene which leads to the loss of gene expression.
|
8411050 |
1993 |
Trichohepatoenteric Syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
FMR-1 mRNA was absent in the majority of male fragile X patients, suggesting a close involvement of this gene in development of the syndrome.
|
1878973 |
1991 |