Detalhe da pesquisa
1.
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.
N Engl J Med
; 380(15): 1433-1441, 2019 04 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30970188
2.
Sustained expression of FMR1 mRNA from reactivated fragile X syndrome alleles after treatment with small molecules that prevent trimethylation of H3K27.
Hum Mol Genet
; 25(17): 3689-3698, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27378697
3.
Mutsß generates both expansions and contractions in a mouse model of the Fragile X-associated disorders.
Hum Mol Genet
; 24(24): 7087-96, 2015 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26420841
4.
Recent advances in assays for the fragile X-related disorders.
Hum Genet
; 136(10): 1313-1327, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28866801
5.
Polycomb group complexes are recruited to reactivated FMR1 alleles in Fragile X syndrome in response to FMR1 transcription.
Hum Mol Genet
; 23(24): 6575-83, 2014 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25055869
6.
Chromosome fragility and the abnormal replication of the FMR1 locus in fragile X syndrome.
Hum Mol Genet
; 23(11): 2940-52, 2014 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24419320
7.
Identification of fragile X syndrome specific molecular markers in human fibroblasts: a useful model to test the efficacy of therapeutic drugs.
Hum Mutat
; 35(12): 1485-94, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25224527
8.
The fragile X locus is prone to spontaneous DNA damage that is preferentially repaired by nonhomologous end-joining to preserve genome integrity.
iScience
; 27(2): 108814, 2024 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38303711
9.
All three MutL complexes are required for repeat expansion in a human stem cell model of CAG-repeat expansion mediated glutaminase deficiency.
bioRxiv
; 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38260514
10.
Somatic expansion in mouse and human carriers of fragile X premutation alleles.
Hum Mutat
; 34(1): 157-66, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22887750
11.
Chromatin changes in the development and pathology of the Fragile X-associated disorders and Friedreich ataxia.
Biochim Biophys Acta
; 1819(7): 802-10, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22245581
12.
Repeat expansion affects both transcription initiation and elongation in friedreich ataxia cells.
J Biol Chem
; 286(6): 4209-15, 2011 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21127046
13.
The distribution of repressive histone modifications on silenced FMR1 alleles provides clues to the mechanism of gene silencing in fragile X syndrome.
Hum Mol Genet
; 19(23): 4634-42, 2010 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20843831
14.
The role of DNA damage response pathways in chromosome fragility in Fragile X syndrome.
Nucleic Acids Res
; 37(13): 4385-92, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19465392
15.
SIRT1 inhibition alleviates gene silencing in Fragile X mental retardation syndrome.
PLoS Genet
; 4(3): e1000017, 2008 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-18369442
16.
Common Threads: Aphidicolin-Inducible and Folate-Sensitive Fragile Sites in the Human Genome.
Front Genet
; 12: 708860, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34567068
17.
Modifiers of Somatic Repeat Instability in Mouse Models of Friedreich Ataxia and the Fragile X-Related Disorders: Implications for the Mechanism of Somatic Expansion in Huntington's Disease.
J Huntingtons Dis
; 10(1): 149-163, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33579860
18.
Small Molecules Targeting H3K9 Methylation Prevent Silencing of Reactivated FMR1 Alleles in Fragile X Syndrome Patient Derived Cells.
Genes (Basel)
; 11(4)2020 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32230785
19.
Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia.
Nucleic Acids Res
; 35(10): 3383-90, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17478498
20.
Towards Mechanism-Based Treatments for Fragile X Syndrome.
Brain Sci
; 9(8)2019 Aug 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-31426300