Literature DB >> 11846731

The fragile X gene and its function.

B A Oostra1, P Chiurazzi.   

Abstract

The fragile X syndrome represents the most common inherited cause of mental retardation worldwide. It is caused by a stretch of CGG repeats within the fragile X gene, which increases in length as it is transmitted from generation to generation. Once the repeat exceeds a threshold length, no protein is produced resulting in the fragile X phenotype. Ten years after the discovery of the gene, much has been learned about the function of the fragile X protein. Knowledge has been collected about the mutation mechanism, although still not all players that allow the destabilization of the CGG repeat are known.

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Year:  2001        PMID: 11846731     DOI: 10.1034/j.1399-0004.2001.600601.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  18 in total

Review 1.  The fragile X mental retardation 1 gene (FMR1): historical perspective, phenotypes, mechanism, pathology, and epidemiology.

Authors:  Jim Grigsby
Journal:  Clin Neuropsychol       Date:  2016-06-29       Impact factor: 3.535

2.  Effects of stimulus salience on touchscreen serial reversal learning in a mouse model of fragile X syndrome.

Authors:  Price E Dickson; Beau Corkill; Eric McKimm; Mellessa M Miller; Michele A Calton; Daniel Goldowitz; Charles D Blaha; Guy Mittleman
Journal:  Behav Brain Res       Date:  2013-06-04       Impact factor: 3.332

3.  Specific effect of the fragile-X mental retardation-1 gene (FMR1) on white matter microstructure.

Authors:  Tamar Green; Naama Barnea-Goraly; Mira Raman; Scott S Hall; Amy A Lightbody; Jennifer L Bruno; Eve-Marie Quintin; Allan L Reiss
Journal:  Br J Psychiatry       Date:  2015-03-19       Impact factor: 9.319

4.  Regulation of GABAA receptors by fragile X mental retardation protein.

Authors:  Baosong Liu; Lijun Li; Juan Chen; Zefen Wang; Zhiqiang Li; Qi Wan
Journal:  Int J Physiol Pathophysiol Pharmacol       Date:  2013-09-10

5.  Heterogeneous dysregulation of microRNAs across the autism spectrum.

Authors:  Kawther Abu-Elneel; Tsunglin Liu; Francesca S Gazzaniga; Yuhei Nishimura; Dennis P Wall; Daniel H Geschwind; Kaiqin Lao; Kenneth S Kosik
Journal:  Neurogenetics       Date:  2008-06-19       Impact factor: 2.660

6.  Downregulation of tonic GABAergic inhibition in a mouse model of fragile X syndrome.

Authors:  Giulia Curia; Thomas Papouin; Philippe Séguéla; Massimo Avoli
Journal:  Cereb Cortex       Date:  2008-09-11       Impact factor: 5.357

7.  The cationic porphyrin TMPyP4 destabilizes the tetraplex form of the fragile X syndrome expanded sequence d(CGG)n.

Authors:  Pnina Weisman-Shomer; Esther Cohen; Inbal Hershco; Samer Khateb; Orit Wolfovitz-Barchad; Laurence H Hurley; Michael Fry
Journal:  Nucleic Acids Res       Date:  2003-07-15       Impact factor: 16.971

Review 8.  New names for old disciplines.

Authors:  H Galjaard
Journal:  J Inherit Metab Dis       Date:  2002-05       Impact factor: 4.982

Review 9.  Thermosensory and mechanosensory perception in human genetic disease.

Authors:  Perciliz L Tan; Nicholas Katsanis
Journal:  Hum Mol Genet       Date:  2009-10-15       Impact factor: 6.150

10.  Altered Brain Network Segregation in Fragile X Syndrome Revealed by Structural Connectomics.

Authors:  Jennifer Lynn Bruno; S M Hadi Hosseini; Manish Saggar; Eve-Marie Quintin; Mira Michelle Raman; Allan L Reiss
Journal:  Cereb Cortex       Date:  2017-03-01       Impact factor: 5.357

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