FMR1

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fragile X syndrome

an X-linked recessive syndrome consisting of mental retardation, a characteristic facies, and macroorchidism. DNA analysis shows abnormal trinucleotide repeats on the X chromosome near the end of its long arm, at Xq27.3. Constriction is demonstrable at this site on karyotyping after culture in folate-deficient medium.
See also: Renpenning syndrome.
Farlex Partner Medical Dictionary © Farlex 2012

FMR1

A gene on chromosome Xq27.3 that encodes a protein which binds RNA, is associated with polysomes and may be involved in mRNA trafficking from the nucleus to the cytoplasm.

Molecular pathology
Expansion of the number of trinucleotide (CGG) repeats more than the usual number (up to 53) is associated with fragile X syndrome and a form of premature ovarian failure.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

FMR1

Abbreviation for fragile X syndrome.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012
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References in periodicals archive ?
Shen, "Co-regulation of mRNA translation by TDP43 and fragile X syndrome protein FMRP," Acta Neuropathology, vol.
Ademas de los titulos anteriores, Post-Doctorado en el Duke University Medical Center (1988 1990), obtuvo en la FMRP el titulo de Profesor Asociado (2011) y el de Profesor Titular (2013), posicion maxima de la carrera universitaria, en regimen de Dedicacion Exclusiva a la Ensenaza e Investigacion.
An example of this trapping of flexible regions is in the X-ray structure of the FMRP RGG domain and the Sc1 RNA.
Kuwano et al., "hnRNP C promotes APP translation by competing with FMRP for APP mRNA recruitment to P bodies," Nature Structure and Molecular Biology, vol.
Western blot analysis revealed a minor increase in FMRP levels in control cell lines after treatment with HDAC inhibitors (Figure 2).
Estos hallazgos sugieren que cambios en la secuencia de nucleotidos y su conformacion estructural en la cromatina de la secuencia limitrofe favorecerian los cambios epigeneticos que concluirian silenciando al gen FMR1 y por ende previniendo la produccion de la proteina FMRP (20).
Using the MALDI-TOF mass spectrometry (MS)-based EpiTYPER system, we have identified novel epigenetic markers for FXS, fragile X-related epigenetic elements 1 (FREE1) and 2 (FREE2), that are inversely correlated with FMRP expression in males and females with expanded FMR1 alleles (13, 14).
Affected individuals have >200 CGG repeats and are classified as having a full mutation (FM) which is associated with hypermethylation of an upstream gene promoter region (CpG island) and silencing of FMR-1 gene transcription which results in the absence of the gene product, fragile X mental retardation protein (FMRP).
What is known is that the Fmr1 gene codes for the Fragile X protein (FMRP).
Integrated behavioral health with primary care in major depression: Implementation and efficacy in a FMRP. Presentation at 45th STFM Annual Spring Conference, April 27, 2012, Seattle, WA.
(FMRP) has completed the first stage of implementation of the RC Inspection software solution from Risk Control Technologies, Inc., aimed at streamlining internal loss control operations.
The gene you searched for today codes for the fragile-X mental retardation protein (FMRP).