Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
We further suggest that the failure of FMRP to oligomerize, caused by the I304N mutation, may contribute to the pathophysiological events leading to fragile X syndrome.
|
11157796 |
2001 |
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Fragile X syndrome is caused by the absence of the fragile X mental retardation protein (FMRP).
|
10196376 |
1999 |
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
In the absence of FMRP, these same mRNAs may be partially translated via alternative mRNPs, although perhaps abnormally localized or regulated, resulting in typical fragile X syndrome.
|
9659908 |
1997 |
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
In the absence of FMRP, these same mRNAs may be partially translated via alternative mRNPs, although perhaps abnormally localized or regulated, resulting in typical fragile X syndrome.
|
9659908 |
1997 |
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
We report here the identification of two different intragenic loss of function mutations in FMR1: a single de novo nucleotide deletion in a young male patient (IJ) and an inherited two basepair change in an Adult male (SD), each with classical features of fragile X syndrome.
|
7670500 |
1995 |
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The identity of these proteins was confirmed by their absence in tissues from patients with the fragile X syndrome and a FMR1 knock-out mouse.
|
7633450 |
1995 |
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome.
|
8069307 |
1994 |
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Furthermore, they strengthen the connection between fragile X syndrome and loss of the RNA binding activity of FMR1.
|
8156595 |
1994 |
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Male patients with fragile X syndrome lack FMR1 protein due to silencing of the FMR1 gene by amplification of a CGG repeat and subsequent methylation of the promoter region.
|
8033209 |
1994 |
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Fragile X mental retardation syndrome is caused by the unstable expansion of a CGG repeat in the FMR-1 gene.
|
8401578 |
1993 |
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
The early transcription of FMR-1 gene and the distribution of FMR-1 mRNAs in human fetuses suggest that alterations of FMR-1 gene expression may contribute to the pathogenesis of fragile-X syndrome and especially the mental retardation.
|
8348153 |
1993 |
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome.
|
8490651 |
1993 |
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Fragile X mental retardation syndrome is caused by the unstable expansion of a CGG repeat in the FMR-1 gene.
|
8401578 |
1993 |
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Our results suggest that mutations in FMR-1 are directly responsible for fragile X syndrome, irrespective of possible secondary effects caused by FRAXA.
|
8490650 |
1993 |
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
These findings demonstrate that FMR1 expression is directly correlated with the fragile X syndrome and suggest that anti-FMR1 antibodies will be important for diagnosis of fragile X syndrome.
|
7688265 |
1993 |
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Our results suggest that mutations in FMR-1 are directly responsible for fragile X syndrome, irrespective of possible secondary effects caused by FRAXA.
|
8490650 |
1993 |
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n.
|
1675488 |
1991 |
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|