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.

Synonym(s): FMR1, marker X syndrome, Martin-Bell 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.

FMR1

Abbreviation for fragile X syndrome.

Medical Dictionary for the Health Professions and Nursing © Farlex 2012

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fragile X syndrome

References in periodicals archive ?

Shen, "Co-regulation of mRNA translation by TDP43 and fragile X syndrome protein FMRP," Acta Neuropathology, vol.

Synaptic Paths to Neurodegeneration: The Emerging Role of TDP-43 and FUS in Synaptic Functions

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.

Galeria Latinoamericana de arte en Portada: Avances en Psicologia Latinoamericana-volumen 35 (2017)

An example of this trapping of flexible regions is in the X-ray structure of the FMRP RGG domain and the Sc1 RNA.

On Characterizing the Interactions between Proteins and Guanine Quadruplex Structures of Nucleic Acids

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.

Long Noncoding RNAs and RNA-Binding Proteins in Oxidative Stress, Cellular Senescence, and Age-Related Diseases

Western blot analysis revealed a minor increase in FMRP levels in control cell lines after treatment with HDAC inhibitors (Figure 2).

Inhibitors of Histone Deacetylases Are Weak Activators of the FMR1 Gene in Fragile X Syndrome Cell Lines

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).

Sindrome de X Fragil

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).

Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spots

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).

Diagnostic, carrier and prenatal genetic testing for fragile X syndrome and other FMR-1-related disorders in Johannesburg, South Africa: a 20-year review

What is known is that the Fmr1 gene codes for the Fragile X protein (FMRP).

Two Genetic Wrongs Make a Biochemical Right

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.

Effects of different models of integrated collaborative care in a family medicine residency program

(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.

Who's Using What: Insurance Software Implementations

The gene you searched for today codes for the fragile-X mental retardation protein (FMRP).