Detalhe da pesquisa
1.
Antagonistic roles of canonical and Alternative-RPA in disease-associated tandem CAG repeat instability.
Cell
; 186(22): 4898-4919.e25, 2023 10 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37827155
2.
Genome-wide detection of tandem DNA repeats that are expanded in autism.
Nature
; 586(7827): 80-86, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32717741
3.
Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences.
Genome Res
; 32(1): 1-27, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34965938
4.
Pathogenic CANVAS-causing but not nonpathogenic RFC1 DNA/RNA repeat motifs form quadruplex or triplex structures.
J Biol Chem
; 299(10): 105202, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37660923
5.
Stability of Mosaic Divergent Repeat Interruptions in X-Linked Dystonia-Parkinsonism.
Mov Disord
; 2024 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38616406
6.
Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset.
Brain
; 146(3): 1075-1082, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35481544
7.
ATRX proximal protein associations boast roles beyond histone deposition.
PLoS Genet
; 17(11): e1009909, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34780483
8.
Genome-wide tandem repeat expansions contribute to schizophrenia risk.
Mol Psychiatry
; 27(9): 3692-3698, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35546631
9.
CAG repeat-binding small molecule improves motor coordination impairment in a mouse model of Dentatorubral-pallidoluysian atrophy.
Neurobiol Dis
; 163: 105604, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34968706
10.
Repeat instability as the basis for human diseases and as a potential target for therapy.
Nat Rev Mol Cell Biol
; 11(3): 165-70, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20177394
11.
CtIP-BRCA1 complex and MRE11 maintain replication forks in the presence of chain terminating nucleoside analogs.
Nucleic Acids Res
; 47(6): 2966-2980, 2019 04 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30657944
12.
CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy.
Am J Hum Genet
; 100(3): 488-505, 2017 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28257691
13.
Molecular genetics of congenital myotonic dystrophy.
Neurobiol Dis
; 132: 104533, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31326502
14.
Thermodynamic and spectroscopic investigations of TMPyP4 association with guanine- and cytosine-rich DNA and RNA repeats of C9orf72.
Biochem Biophys Res Commun
; 495(4): 2410-2417, 2018 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29274339
15.
Stress-induced acidification may contribute to formation of unusual structures in C9orf72-repeats.
Biochim Biophys Acta Gen Subj
; 1862(6): 1482-1491, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29550431
16.
Quadruplex formation by both G-rich and C-rich DNA strands of the C9orf72 (GGGGCC)8â¢(GGCCCC)8 repeat: effect of CpG methylation.
Nucleic Acids Res
; 43(20): 10055-64, 2015 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-26432832
17.
An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study.
Genes Chromosomes Cancer
; 55(2): 131-42, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26542077
18.
Expression levels of DNA replication and repair genes predict regional somatic repeat instability in the brain but are not altered by polyglutamine disease protein expression or age.
Hum Mol Genet
; 23(6): 1606-18, 2014 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24191263
19.
Processing of double-R-loops in (CAG)·(CTG) and C9orf72 (GGGGCC)·(GGCCCC) repeats causes instability.
Nucleic Acids Res
; 42(16): 10473-87, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25147206
20.
Detection of slipped-DNAs at the trinucleotide repeats of the myotonic dystrophy type I disease locus in patient tissues.
PLoS Genet
; 9(12): e1003866, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24367268