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Items: 25


Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families.

Bennett MF, Oliver KL, Regan BM, Bellows ST, Schneider AL, Rafehi H, Sikta N, Crompton DE, Coleman M, Hildebrand MS, Corbett MA, Kroes T, Gecz J, Scheffer IE, Berkovic SF, Bahlo M.

Eur J Hum Genet. 2020 Mar 16. doi: 10.1038/s41431-020-0606-z. [Epub ahead of print]


Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.

Florian RT, Kraft F, Leitão E, Kaya S, Klebe S, Magnin E, van Rootselaar AF, Buratti J, Kühnel T, Schröder C, Giesselmann S, Tschernoster N, Altmueller J, Lamiral A, Keren B, Nava C, Bouteiller D, Forlani S, Jornea L, Kubica R, Ye T, Plassard D, Jost B, Meyer V, Deleuze JF, Delpu Y, Avarello MDM, Vijfhuizen LS, Rudolf G, Hirsch E, Kroes T, Reif PS, Rosenow F, Ganos C, Vidailhet M, Thivard L, Mathieu A, Bourgeron T, Kurth I, Rafehi H, Steenpass L, Horsthemke B; FAME consortium, LeGuern E, Klein KM, Labauge P, Bennett MF, Bahlo M, Gecz J, Corbett MA, Tijssen MAJ, van den Maagdenberg AMJM, Depienne C.

Nat Commun. 2019 Oct 29;10(1):4919. doi: 10.1038/s41467-019-12763-9.


Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.

Rafehi H, Szmulewicz DJ, Bennett MF, Sobreira NLM, Pope K, Smith KR, Gillies G, Diakumis P, Dolzhenko E, Eberle MA, Barcina MG, Breen DP, Chancellor AM, Cremer PD, Delatycki MB, Fogel BL, Hackett A, Halmagyi GM, Kapetanovic S, Lang A, Mossman S, Mu W, Patrikios P, Perlman SL, Rosemergy I, Storey E, Watson SRD, Wilson MA, Zee DS, Valle D, Amor DJ, Bahlo M, Lockhart PJ.

Am J Hum Genet. 2019 Jul 3;105(1):151-165. doi: 10.1016/j.ajhg.2019.05.016. Epub 2019 Jun 20.


Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update.

Stephenson SE, Djaldetti R, Rafehi H, Wilson GR, Gillies G, Bahlo M, Lockhart PJ.

Parkinsonism Relat Disord. 2019 Jul;64:308-311. doi: 10.1016/j.parkreldis.2019.03.013. Epub 2019 Mar 22.


Galectin-3 deficiency ameliorates fibrosis and remodeling in dilated cardiomyopathy mice with enhanced Mst1 signaling.

Nguyen MN, Ziemann M, Kiriazis H, Su Y, Thomas Z, Lu Q, Donner DG, Zhao WB, Rafehi H, Sadoshima J, McMullen JR, El-Osta A, Du XJ.

Am J Physiol Heart Circ Physiol. 2019 Jan 1;316(1):H45-H60. doi: 10.1152/ajpheart.00609.2018. Epub 2018 Nov 2.


MeCP2 interacts with chromosomal microRNAs in brain.

Khan AW, Ziemann M, Rafehi H, Maxwell S, Ciccotosto GD, El-Osta A.

Epigenetics. 2017;12(12):1028-1037. doi: 10.1080/15592294.2017.1391429.


Systems approach to the pharmacological actions of HDAC inhibitors reveals EP300 activities and convergent mechanisms of regulation in diabetes.

Rafehi H, Kaspi A, Ziemann M, Okabe J, Karagiannis TC, El-Osta A.

Epigenetics. 2017;12(11):991-1003. doi: 10.1080/15592294.2017.1371892.


Multicellular Transcriptional Analysis of Mammalian Heart Regeneration.

Quaife-Ryan GA, Sim CB, Ziemann M, Kaspi A, Rafehi H, Ramialison M, El-Osta A, Hudson JE, Porrello ER.

Circulation. 2017 Sep 19;136(12):1123-1139. doi: 10.1161/CIRCULATIONAHA.117.028252. Epub 2017 Jul 21.


NET silencing by let-7i in postural tachycardia syndrome.

Khan AW, Ziemann M, Corcoran SJ, K N H, Okabe J, Rafehi H, Maxwell SS, Esler MD, El-Osta A.

JCI Insight. 2017 Mar 23;2(6):e90183. doi: 10.1172/jci.insight.90183.


Current perspectives in Set7 mediated stem cell differentiation.

Karimnia N, Rafehi H, Tuano NK, Ziemann M, K N H, Okabe J, El-Osta A.

Noncoding RNA. 2016 Dec 4;2(4). pii: E14. doi: 10.3390/ncrna2040014.


Pharmacological Histone Deacetylation Distinguishes Transcriptional Regulators.

Rafehi H, Karagiannis TC, El-Osta A.

Curr Top Med Chem. 2017;17(14):1611-1622. doi: 10.2174/1568026617666161104104341.


Metabolism and chromatin dynamics in health and disease.

Rodriguez H, Rafehi H, Bhave M, El-Osta A.

Mol Aspects Med. 2017 Apr;54:1-15. doi: 10.1016/j.mam.2016.09.004. Epub 2016 Sep 30. Review.


HDAC Inhibition in Vascular Endothelial Cells Regulates the Expression of ncRNAs.

Rafehi H, El-Osta A.

Noncoding RNA. 2016 May 25;2(2). pii: E4. doi: 10.3390/ncrna2020004.


Improving understanding of chromatin regulatory proteins and potential implications for drug discovery.

Rafehi H, Khan AW, El-Osta A.

Expert Rev Proteomics. 2016;13(4):435-45. doi: 10.1586/14789450.2016.1159960. Epub 2016 Mar 17. Review.


RNA sequencing supports distinct reactive oxygen species-mediated pathways of apoptosis by high and low size mass fractions of Bay leaf (Lauris nobilis) in HT-29 cells.

Rodd AL, Ververis K, Sayakkarage D, Khan AW, Rafehi H, Ziemann M, Loveridge SJ, Lazarus R, Kerr C, Lockett T, El-Osta A, Karagiannis TC, Bennett LE.

Food Funct. 2015 Aug;6(8):2507-24. doi: 10.1039/c5fo00467e. Epub 2015 Jun 26.


HDAC inhibition attenuates cardiac hypertrophy by acetylation and deacetylation of target genes.

Ooi JY, Tuano NK, Rafehi H, Gao XM, Ziemann M, Du XJ, El-Osta A.

Epigenetics. 2015;10(5):418-30. doi: 10.1080/15592294.2015.1024406. Epub 2015 May 5.


Vascular histone deacetylation by pharmacological HDAC inhibition.

Rafehi H, Balcerczyk A, Lunke S, Kaspi A, Ziemann M, Kn H, Okabe J, Khurana I, Ooi J, Khan AW, Du XJ, Chang L, Haviv I, Keating ST, Karagiannis TC, El-Osta A.

Genome Res. 2014 Aug;24(8):1271-84. doi: 10.1101/gr.168781.113. Epub 2014 Apr 14.


Investigation of the biological properties of Cinnulin PF in the context of diabetes: mechanistic insights by genome-wide mRNA-Seq analysis.

Rafehi H, Ververis K, Balcerczyk A, Ziemann M, Ooi J, Hu S, Kwa FA, Loveridge SJ, Georgiadis GT, El-Osta A, Karagiannis TC.

Pathobiol Aging Age Relat Dis. 2012;2. doi: 10.3402/pba.v2i0.11905. Epub 2012 Feb 22.


Epigenetic mechanisms in the pathogenesis of diabetic foot ulcers.

Rafehi H, El-Osta A, Karagiannis TC.

J Diabetes Complications. 2012 Nov-Dec;26(6):554-61. doi: 10.1016/j.jdiacomp.2012.05.015. Epub 2012 Jun 26. Review.


A pipeline for the identification and characterization of chromatin modifications derived from ChIP-Seq datasets.

Kaspi A, Ziemann M, Rafehi H, Lazarus R, El-Osta A.

Biochimie. 2012 Nov;94(11):2353-9. doi: 10.1016/j.biochi.2012.06.002. Epub 2012 Jun 13.


Mechanisms of action of phenolic compounds in olive.

Rafehi H, Ververis K, Karagiannis TC.

J Diet Suppl. 2012 Jun;9(2):96-109. doi: 10.3109/19390211.2012.682644. Review.


Controversies surrounding the clinical potential of cinnamon for the management of diabetes.

Rafehi H, Ververis K, Karagiannis TC.

Diabetes Obes Metab. 2012 Jun;14(6):493-9. doi: 10.1111/j.1463-1326.2011.01538.x. Epub 2011 Dec 27. Review.


Investigation into the biological properties of the olive polyphenol, hydroxytyrosol: mechanistic insights by genome-wide mRNA-Seq analysis.

Rafehi H, Smith AJ, Balcerczyk A, Ziemann M, Ooi J, Loveridge SJ, Baker EK, El-Osta A, Karagiannis TC.

Genes Nutr. 2012 Apr;7(2):343-55. doi: 10.1007/s12263-011-0249-3. Epub 2011 Sep 28.


Clonogenic assay: adherent cells.

Rafehi H, Orlowski C, Georgiadis GT, Ververis K, El-Osta A, Karagiannis TC.

J Vis Exp. 2011 Mar 13;(49). pii: 2573. doi: 10.3791/2573.


Genetic and epigenetic events in diabetic wound healing.

Rafehi H, El-Osta A, Karagiannis TC.

Int Wound J. 2011 Feb;8(1):12-21. doi: 10.1111/j.1742-481X.2010.00745.x. Epub 2010 Dec 16. Review.


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