FMR1


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Related to FMR1: FMRP, FRAXA, FXTAS
AcronymDefinition
FMR1Fragile X Mental Retardation
FMR1Fragile Site Mental Retardation 1 gene
References in periodicals archive ?
Women with a premutation or a full mutation have a 50 percent risk of transmitting the affected X chromosome with the FMR1 gene alteration during each pregnancy.
Fragile X-associated Disorders (FXD) can be passed on by carriers of the FMR1 gene mutation who have no apparent signs of an FXD.
Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation.
The frequency of abnormal FMR1 alleles was used to compare 3 different pooling schemes in simulations (Fig.
En los ultimos 15 anos se han hecho multiples avances en la descripcion de las caracteristicas genicas, funcion de la proteina codificada por el FMR1, la FMRP; manejo farmacologico y la descripcion, en portadores de la premutacion, del sindrome de tremor y ataxia asociado al fragil X (FXTAS) y falla ovarica prematura asociada al SXF (FXPOI) (3-5).
Cognitive and behavioral performance among FMR1 high-repeat allele carriers surveyed from special education classes.
After generating the cells, they screened several chemical substances with the aim of finding one that would restore FMR1 normal gene expression.
Desde el punto de vista clinico, existen dos nuevos fenotipos: el primero de ellos, el fallo ovarico prematuro, lo advirtio el equipo de Murray en 1998 (citado en Glover-Lopez, 2006) en mujeres con premutacion, sugiriendo que el gen FMR1 intervenia en el desarrollo y maduracion del ovario.
Excessive expansion of the CGG trinucleotide repeat within the FMR1 gene on the X chromosome is the underlying genetic problem.
The functional FMR1 gene product, Fragile X Mental Retardation Protein (FMRP), belongs to a small and highly conserved RNA-binding protein family (120-124) and functions as a suppressor of target mRNA translation via binding of non-coding RNA structures within the UTRs of target mRNAs (110), (125-128)
Loci especificos en la region critica Xq, FOP1 y FOP2 y genes DIA, FMR1 y FMR2.
Determination of FMR1 gene promoter methylation: Analysis of methylation status of the FMR1 promoter and an internal control Xist gene (X-inactive specific transcript) was carried out following the method of Weinhausel and Hass (23).