ORCID Profile
0000-0002-0915-5047
Current Organisation
University of South Australia
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Publisher: Springer Science and Business Media LLC
Date: 09-06-2009
Publisher: Wiley
Date: 10-2009
DOI: 10.1002/AJMG.A.32990
Publisher: Oxford University Press (OUP)
Date: 03-2012
DOI: 10.1373/CLINCHEM.2011.177626
Abstract: Cognitive status in females with mutations in the FMR1 (fragile X mental retardation 1) gene is highly variable. A biomarker would be of value for predicting which in iduals were liable to develop cognitive impairment and could benefit from early intervention. A detailed analysis of CpG sites bridging exon 1 and intron 1 of FMR1, known as fragile X–related epigenetic element 2 (FREE2), suggests that a simple blood test could identify these in iduals. Study participants included 74 control females (& CGG repeats), 62 premutation (PM) females (55–200 CGG repeats), and 18 full-mutation (FM) females assessed with Wechsler intelligence quotient (IQ) tests. We used MALDI-TOF mass spectrometry to determine the methylation status of FREE2 CpG sites that best identified low-functioning (IQ & ) FM females (& CGG repeats), compared the results with those for Southern blot FMR1 activation ratios, and related these assessments to the level of production of the FMR1 protein product in blood. A methylation analysis of intron 1 CpG sites 10–12 showed the highest diagnostic sensitivity (100%) and specificity (98%) of all the molecular measures tested for detecting females with a standardized verbal IQ of & among the study participants. In the group consisting of only FM females, methylation of these sites was significantly correlated with full-scale IQ, verbal IQ, and performance IQ. Several verbal subtest scores showed strong correlation with the methylation of these sites (P = 1.2 × 10−5) after adjustment for multiple measures. The data suggest that hypermethylation of the FMR1 intron 1 sites in blood is predictive of cognitive impairment in FM females, with implications for improved fragile X syndrome diagnostics in young children and screening of the newborn population.
Publisher: Elsevier BV
Date: 05-2011
Publisher: Oxford University Press (OUP)
Date: 29-01-2010
DOI: 10.1093/HMG/DDQ037
Publisher: American Association for the Advancement of Science (AAAS)
Date: 17-02-2015
DOI: 10.1126/SCISIGNAL.2005547
Abstract: Without the protein phosphatase PTPN14, tumor cells secrete more prometastatic factors and send more growth-promoting receptors to the surface.
Publisher: Elsevier BV
Date: 09-2011
No related grants have been discovered for Freya Gehling.