Search details
1.
FXN gene methylation determines carrier status in Friedreich ataxia.
J Med Genet
; 60(8): 797-800, 2023 08.
Article
in English
| MEDLINE | ID: mdl-36635061
2.
Methylated and unmethylated epialleles support variegated epigenetic silencing in Friedreich ataxia.
Hum Mol Genet
; 29(23): 3818-3829, 2021 02 04.
Article
in English
| MEDLINE | ID: mdl-33432325
3.
Friedreich ataxia- pathogenesis and implications for therapies.
Neurobiol Dis
; 132: 104606, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31494282
4.
Reversal of epigenetic promoter silencing in Friedreich ataxia by a class I histone deacetylase inhibitor.
Nucleic Acids Res
; 44(11): 5095-104, 2016 06 20.
Article
in English
| MEDLINE | ID: mdl-26896803
5.
Altered nucleosome positioning at the transcription start site and deficient transcriptional initiation in Friedreich ataxia.
J Biol Chem
; 289(22): 15194-202, 2014 May 30.
Article
in English
| MEDLINE | ID: mdl-24737321
6.
Epigenetic promoter silencing in Friedreich ataxia is dependent on repeat length.
Ann Neurol
; 76(4): 522-8, 2014 Oct.
Article
in English
| MEDLINE | ID: mdl-25112975
7.
Role of transcript and interplay between transcription and replication in triplet-repeat instability in mammalian cells.
Nucleic Acids Res
; 39(2): 526-35, 2011 Jan.
Article
in English
| MEDLINE | ID: mdl-20843782
8.
DNA methylation in Friedreich ataxia silences expression of frataxin isoform E.
Sci Rep
; 12(1): 5031, 2022 03 23.
Article
in English
| MEDLINE | ID: mdl-35322126
9.
Epigenetic Heterogeneity in Friedreich Ataxia Underlies Variable FXN Reactivation.
Front Neurosci
; 15: 752921, 2021.
Article
in English
| MEDLINE | ID: mdl-34899161
10.
Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease.
BMC Med Genet
; 11: 4, 2010 Jan 12.
Article
in English
| MEDLINE | ID: mdl-20064270
11.
Repair of DNA double-strand breaks within the (GAA*TTC)n sequence results in frequent deletion of the triplet-repeat sequence.
Nucleic Acids Res
; 36(2): 489-500, 2008 Feb.
Article
in English
| MEDLINE | ID: mdl-18045804
12.
E. coli mismatch repair acts downstream of replication fork stalling to stabilize the expanded (GAA.TTC)(n) sequence.
Mutat Res
; 661(1-2): 71-7, 2009 Feb 10.
Article
in English
| MEDLINE | ID: mdl-19046977
13.
Deficiency of RecA-dependent RecFOR and RecBCD pathways causes increased instability of the (GAA*TTC)n sequence when GAA is the lagging strand template.
Nucleic Acids Res
; 35(20): 6884-94, 2007.
Article
in English
| MEDLINE | ID: mdl-17932052
14.
Replication in mammalian cells recapitulates the locus-specific differences in somatic instability of genomic GAA triplet-repeats.
Nucleic Acids Res
; 34(21): 6352-61, 2006.
Article
in English
| MEDLINE | ID: mdl-17142224
15.
Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia.
Nucleic Acids Res
; 32(19): 5962-71, 2004.
Article
in English
| MEDLINE | ID: mdl-15534367
16.
FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia.
PLoS One
; 10(9): e0138437, 2015.
Article
in English
| MEDLINE | ID: mdl-26393353
17.
Analysis of unstable triplet repeats using small-pool polymerase chain reaction.
Methods Mol Biol
; 277: 61-76, 2004.
Article
in English
| MEDLINE | ID: mdl-15201449
18.
What Mendel did not discover: exceptions in Mendelian genetics and their role in inherited human disease.
J Okla State Med Assoc
; 97(1): 12-7, 2004 Jan.
Article
in English
| MEDLINE | ID: mdl-14998061
19.
Funding agencies and disease organizations: resources and recommendations to facilitate ALS clinical research.
Amyotroph Lateral Scler Frontotemporal Degener
; 14 Suppl 1: 62-6, 2013 May.
Article
in English
| MEDLINE | ID: mdl-23678881
20.
Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues.
PLoS One
; 7(10): e47085, 2012.
Article
in English
| MEDLINE | ID: mdl-23071719