FMR1 (Fragile X Messenger Ribonucleoprotein 1) is a human gene that codes for a protein called fragile X messenger ribonucleoprotein, or FMRP. This protein...

is typically caused by an expansion of the CGG triplet repeat within the FMR1 (fragile X messenger ribonucleoprotein 1) gene on the X chromosome. This...

carriers over the age of 50. FMR1 mRNA is found to be elevated in patients with FXTAS in contrast to FXS, where the FMR1 gene is transcriptionally silenced...

radiation, or surgery in 10%. Two to 5% of women with POI and a premutation in FMR1, a genetic abnormality, are at risk of having a child with fragile X syndrome...

In molecular biology, FMR1 antisense RNA 1 (FMR1-AS1), also known as ASFMR1 or FMR4, is a long non-coding RNA. The FMR1-AS1 gene overlaps, and is antisense...

initiation factor 2C1; eIF2C2, eukaryotic translation initiation factor 2C2; Fmr1/Fxr, D. melanogaster orthologue of the fragile-X mental retardation protein;...

disability in FMR1 pre-mutation carrier males. Further studies need to be done to determine if the correlation is due to higher or lower levels of FMR1 mRNA and...

Fetal and adult testis-expressed transcript protein FMR1-AS1: encoding a long non-coding RNA FMR1 antisense RNA 1 FRMPD3: encoding protein FERM and PDZ...

46,XX. The expansion of a CGG repeat in the 5' untranslated region of the FMR1 gene from the normal range of 5-45 repeats to the premutation range of 55-199...

repeat disorder) in FMR1. This was the first to be identified as the underlying mutations in human genetic disorders. Their findings in FMR1 explained the unusual...

can be found in the MED12 gene. However, mutations have also been found in FMR1, FLNA, UPF3B, CASK, MECP2 and ATRX genes. Mutations on these different genes...

genes. Clinically, the most important rare fragile site is FRAXA in the FMR1 gene, which is associated with the fragile X syndrome, the most common cause...

Fragile X syndrome is caused by the expansion of the DNA sequence CCG in the FMR1 gene on the X chromosome. This gene produces the RNA-binding protein FMRP...

chromosome 9) Fragile X syndrome 1.4:10000 in males, 0.9:10000 in females FMR1 gene (on X chromosome) Mucolipidosis type IV 1:90 to 1:100 in Ashkenazi Jews...

CGGBP1 influences expression of the fragile X mental retardation gene, FMR1, by specifically interacting with the CGG trinucleotide repeat in its 5-prime...

assay, advanced maternal age and semen quality. People with ovary-specific FMR1 genotypes including het-norm/low have significantly decreased pregnancy chances...

An expansion of the CGG trinucleotide repeat in the promoter of the gene FMR1 in boys causes fragile X syndrome, and at least 20% of boys with this mutation...

reported to occur in 59-80% of individuals with FXS. In a FXS animal model (Fmr1 knockout mouse model), metadoxine treatment improved behavioral impairments...

syndrome dominant Fine-Lubinsky syndrome MAF recessive Fragile X syndrome FMR1 T 1:4,000 males 1:8,000 females Friedreich's ataxia FXN T 1:50,000 (U.S.)...

2007-10-28. "Lesson 1: Triplet Repeat Expansion". Retrieved 2007-10-16. "FMR1-Related Disorders". Retrieved 2007-10-29. non-Mendelian inheritance at Duke...

observations. In 1991, researchers studying fragile X syndrome found that the FMR1 gene has an unstable CGG trinucleotide repeat sequence in its promoter region...

(mental retardation) in males. It is caused by a change in a gene called FMR1. A small part of the gene code is repeated on a fragile area of the X chromosome...

the AU-rich RNA targets. The solution structure of the first KH domain of FMR1 and of the C-terminal KH domain of hnRNP K determined by nuclear magnetic...

Cytoplasmic FMR1-interacting protein 1 is a protein that in humans is encoded by the CYFIP1 gene. CYFIP1 has been shown to interact with FMR1, to the exclusion...

defined Other characteristics Ref. Fragile X syndrome Monogenic disorder: FMR1 (encodes FMRP) X  30% (20.0–31.0) [male individuals only]  22% (15.0–30.0)...

Suhl, Joshua A. (24 November 2015). "A 3′ untranslated region variant in FMR1 eliminates neuronal activity-dependent translation of FMRP by disrupting...

(Fragile X syndrome) FMR1 CGG (5' UTR) 6 - 53 230+ abnormal methylation FXTAS (Fragile X-associated tremor/ataxia syndrome) FMR1 CGG (5' UTR) 6 - 53 55-200...

oscillations has been observed in the auditory cortex of FXS patients. The FMR1 knockout rat model of FXS exhibits an increased ratio of slow (~25–50 Hz)...

the fragile X knockout mouse: an experimental therapeutic approach for the Fmr1 deficiency". Neuropsychopharmacology. 34 (4): 1011–26. doi:10.1038/npp.2008...

the agonist to BKCa channels, BMS-204352, in treating deficits observed in Fmr1 knockout mice, a model of Fragile X syndrome. BK channels also function as...