Detalhe da pesquisa
1.
Posttranscriptional regulation of FAN1 by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington's disease.
Proc Natl Acad Sci U S A
; 121(16): e2322924121, 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38607933
2.
CAG repeat expansion in the Huntington's disease gene shapes linear and circular RNAs biogenesis.
PLoS Genet
; 19(10): e1010988, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37831730
3.
Genetic modifiers of Huntington disease differentially influence motor and cognitive domains.
Am J Hum Genet
; 109(5): 885-899, 2022 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35325614
4.
Somatic CAG expansion in Huntington's disease is dependent on the MLH3 endonuclease domain, which can be excluded via splice redirection.
Nucleic Acids Res
; 49(7): 3907-3918, 2021 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33751106
5.
Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out.
Hum Mol Genet
; 29(18): 3044-3053, 2020 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32876667
6.
Patterns of CAG repeat instability in the central nervous system and periphery in Huntington's disease and in spinocerebellar ataxia type 1.
Hum Mol Genet
; 29(15): 2551-2567, 2020 08 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32761094
7.
Population-specific genetic modification of Huntington's disease in Venezuela.
PLoS Genet
; 14(5): e1007274, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29750799
8.
A modifier of Huntington's disease onset at the MLH1 locus.
Hum Mol Genet
; 26(19): 3859-3867, 2017 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28934397
9.
High resolution time-course mapping of early transcriptomic, molecular and cellular phenotypes in Huntington's disease CAG knock-in mice across multiple genetic backgrounds.
Hum Mol Genet
; 26(5): 913-922, 2017 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28334820
10.
Transcriptional regulatory networks underlying gene expression changes in Huntington's disease.
Mol Syst Biol
; 14(3): e7435, 2018 03 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-29581148
11.
Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families.
Am J Hum Genet
; 94(6): 870-83, 2014 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24906019
12.
Mismatch repair genes Mlh1 and Mlh3 modify CAG instability in Huntington's disease mice: genome-wide and candidate approaches.
PLoS Genet
; 9(10): e1003930, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24204323
13.
Dominant effects of the Huntington's disease HTT CAG repeat length are captured in gene-expression data sets by a continuous analysis mathematical modeling strategy.
Hum Mol Genet
; 22(16): 3227-38, 2013 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23595883
14.
Chromosome substitution strain assessment of a Huntington's disease modifier locus.
Mamm Genome
; 26(3-4): 119-30, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25645993
15.
Somatic CAG Repeat Stability in a Transgenic Sheep Model of Huntington's Disease.
J Huntingtons Dis
; 13(1): 33-40, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38393920
16.
Splice modulators target PMS1 to reduce somatic expansion of the Huntington's disease-associated CAG repeat.
Nat Commun
; 15(1): 3182, 2024 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38609352
17.
Mapping SCA1 regional vulnerabilities reveals neural and skeletal muscle contributions to disease.
JCI Insight
; 9(9)2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38512434
18.
Modification of Huntington's disease by short tandem repeats.
Brain Commun
; 6(2): fcae016, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38449714
19.
Early alterations of brain cellular energy homeostasis in Huntington disease models.
J Biol Chem
; 287(2): 1361-70, 2012 Jan 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-22123819
20.
Differential effects of the Huntington's disease CAG mutation in striatum and cerebellum are quantitative not qualitative.
Hum Mol Genet
; 20(21): 4258-67, 2011 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21840924