Epilepsy and fragile X gene mutations. Ped Neurol 1996; 15: 358-60. ciones clinicas de la premutacion fragil X en ninos. Rev Neurol 2001; 33: 263. 21. Hagerman RJ, Jackson C, Amiri K, Sivlerman AC, O'Connor R, Sobesky WE. Fragile X girls: physical and neurocognitive status and...
Tag: Fragile X gene Mouse study points to effective treatment of Fragile X syndrome Fragile X syndrome is the most common genetic causes of intellectual disability, affecting about 1 in 4,000 people with more males affected than females, and also the most common genetic cause of autism, ...
( 2009 ) Gene, brain, and behavior relationships in fragile X syndrome: evidence from neuroimaging studies . Dev Disabil Res Rev 15 , 343 – 352 .Lightbody AA, Reiss AL. Gene, brain, and behavior relationships in fragile X syndrome: evidence from neuroimaging studies. Developmental Disabilities...
Trinucleotide repeats (CGG)22TGG(CGG)43TGG(CGG)21 from the fragile X gene remain stable in transgenic mice ( 1997 ) Trinucleotide repeats (CGG) 22 TGG(CGG) 43 TGG(CGG) 21 from the fragile X gene remain stable in transgenic mice. Hum. Genet. , 100 , ... Christian,N.,Lavedan,... ...
Fragile X mental retardation gene (FMR1) encodes an RNA binding protein that acts as a negative translational regulator. We have developed a Drosophila fragile X syndrome model using loss-of-function mutants and overexpression of the FMR1 homolog (dfxr). dfxr nulls display enlarged synaptic termina...
Fragile X syndrome (FXS) is an inherited human disorder affecting approximately 1 in 4000 males. FXS arises from the silencing of a gene (FMR1) which is highly expressed in brain during normal development. Since this gene is located on the X chromosome, males are generally more severely affect...
(MR);Molecular mechannism;Gene therapy1 前言智力低下(mental retardation,MR)是以智力障碍为主的综合性症候群,其病因复杂,发病率高,严重影响到我国人口的素质,而脆性 X 综合征是遗传性智力低下的常见原因之一,脆性 X 综合征(fragile X syndrome,FraX)在不同的种群中的发病率均很高,脆性 X 综合征是 X ...
The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein. Cell 1993;74:291– 298. 10. Siomi MC, Zhang Y, Siomi H, Dreyfuss G. Specific sequences in the fragile X syndrome protein FMR1 and the FXR proteins mediate their binding to 60S ribo- 368 ...
To determine the meiotic instability of the CGG-triplet repeat in the fragile-X gene, FMR1, we examined the size of the repeat in single sperm from four premutation males. The males had CGG-repeat sizes of 68, 75, 78, and 100, as determined in peripheral blood samples. All samples showe...
2.7.2Fragile X syndrome Fragile X syndrome(FXS) is a genetic disease caused by the loss of function of FMR1 protein (FMRP) due to expansion of CGG repeat in the FMR1 gene. The FXS characterized by cognitive impairment, behavioral disturbance, facial dysmorphisms, hypotonia, mitral valve prol...