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.

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.
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References in periodicals archive ?
A rapid, non-radioactive screening test for fragile X mutations at the FRAXA and FRAXE loci.
Fragile X screening for FRAXA and FRAXE mutations using PCR based studies: Results of a five year study.
Population screening: A three step screening programme was implemented for identification of FRAXA cases among the rural population of Sonarpur block, South 24 Parganas, in the State of West Bengal, India.
Genetic testing for FRAXA was carried out for all the family members of MR cases recruited.
Under the terms of the grant, FRAXA will provide full funding for a preclinical study to evaluate the behavioral effects of bryostatin-1 in a FXS mouse model.
We are pleased to have received a grant from FRAXA to fund this important research as we continue working toward our goal of bringing an effective treatment to the market for patients and their families who deal with consequences of this severe genetic disorder" stated Charles S.
FRAXA funds biomedical research, in the US and internationally, aimed at treating and curing Fragile X.
CONTACT: Katie Clapp of FRAXA Research Foundation, +1-978-462-1866
For further information regarding FRAXA's 10th Anniversary Gala, to purchase tickets or make donations, please contact FRAXA President, Katie Clapp, (978) 462-1866, kclapp@fraxa.
CONTACT: Katie Clapp, FRAXA President, +1-978-462-1866, kclapp@fraxa.
We are grateful to First Data Western Union Foundation and TravelCenters of America for their monetary support to this under funded cause," said Katie Clapp, president of FRAXA.
Katie Clapp, President of FRAXA Research Foundation (the largest private organization worldwide dedicated to supporting research to find a cure for Fragile X) said "There has been an explosion of exciting discoveries published by FRAXA-funded researchers in top journals over the past six months.