PedAM
Pediatric Disease Annotations & Medicines
| Disease | fragile x syndrome |
| Phenotype | C0025362|mental retardation |
| Sentences | 8 |
| PubMedID- 20547592 | Clinically significant kh-domain proteins include the fmr protein (2), which is involved in fragile x syndrome, the major cause of heritable human mental retardation, and nova-1, which is important in the motor control disorder paraneoplastic opsoclonus-ataxia (4). |
| PubMedID- 21572337 | Premutation (55-200 cgg repeats) and full-mutation (>200 cgg repeats) alleles give rise to their respective disorders by different pathogenic mechanisms: rna gain-of-function toxicity leads to fragile x-associated tremor/ataxia syndrome in the premutation range, and transcriptional silencing and absence of fragile x mental retardation protein (fmrp) lead to fragile x syndrome in the full-mutation range. |
| PubMedID- 23692864 | Lack of the fragile x mental retardation protein leads to fragile x syndrome (fxs) while increased levels of fmr1 mrna, as those observed in premutation carriers can lead to fragile x- associated tremor ataxia syndrome (fxtas). |
| PubMedID- 21423496 | Stdp and mental retardation: dysregulation of dendritic excitability in fragile x syndrome. |
| PubMedID- 20370889 | In a drosophila model of fragile x syndrome, the main cause of inherited mental retardation, treatment with metabotropic glu receptor (mglur) antagonists can rescue memory deficits and mb structural defects. |
| PubMedID- 22522693 | Loss of fragile x mental retardation protein (fmrp) leads to fragile x syndrome (fxs), the most common form of inherited intellectual disability and autism. |
| PubMedID- 20519410 | The absence of fmrp causes fragile x syndrome, the leading cause of hereditary mental retardation. |
| PubMedID- 20541608 | The loss of expression of the fragile x mental retardation protein (fmrp) leads to fragile x syndrome. |
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