Detalhe da pesquisa
1.
A functional link between lariat debranching enzyme and the intron-binding complex is defective in non-photosensitive trichothiodystrophy.
Mol Cell
; 83(13): 2258-2275.e11, 2023 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37369199
2.
EXO5-DNA structure and BLM interactions direct DNA resection critical for ATR-dependent replication restart.
Mol Cell
; 81(14): 2989-3006.e9, 2021 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34197737
3.
Aberrant RNA methylation triggers recruitment of an alkylation repair complex.
Mol Cell
; 81(20): 4228-4242.e8, 2021 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34686315
4.
ASCC1 structures and bioinformatics reveal a novel helix-clasp-helix RNA-binding motif linked to a two-histidine phosphodiesterase.
J Biol Chem
; 300(6): 107368, 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38750793
5.
Novobiocin blocks nucleic acid binding to Polθ and inhibits stimulation of its ATPase activity.
Nucleic Acids Res
; 51(18): 9920-9937, 2023 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37665033
6.
Translesion polymerase eta both facilitates DNA replication and promotes increased human genetic variation at common fragile sites.
Proc Natl Acad Sci U S A
; 118(48)2021 11 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34815340
7.
Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections.
Hum Genet
; 142(2): 245-274, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36344696
8.
Heritable pattern of oxidized DNA base repair coincides with pre-targeting of repair complexes to open chromatin.
Nucleic Acids Res
; 49(1): 221-243, 2021 01 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33300026
9.
Human XPG nuclease structure, assembly, and activities with insights for neurodegeneration and cancer from pathogenic mutations.
Proc Natl Acad Sci U S A
; 117(25): 14127-14138, 2020 06 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32522879
10.
Distinct sequence features underlie microdeletions and gross deletions in the human genome.
Hum Mutat
; 43(3): 328-346, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34918412
11.
Replication-Based Rearrangements Are a Common Mechanism for SNCA Duplication in Parkinson's Disease.
Mov Disord
; 35(5): 868-876, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32039503
12.
RNA Modifications: Reversal Mechanisms and Cancer.
Biochemistry
; 58(5): 312-329, 2019 02 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30346748
13.
A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins.
Am J Med Genet A
; 179(11): 2272-2276, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31436901
14.
Translocation and deletion breakpoints in cancer genomes are associated with potential non-B DNA-forming sequences.
Nucleic Acids Res
; 44(12): 5673-88, 2016 07 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27084947
15.
New Perspectives on DNA and RNA Triplexes As Effectors of Biological Activity.
PLoS Genet
; 11(12): e1005696, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26700634
16.
Local DNA dynamics shape mutational patterns of mononucleotide repeats in human genomes.
Nucleic Acids Res
; 43(10): 5065-80, 2015 May 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-25897114
17.
A Role for Non-B DNA Forming Sequences in Mediating Microlesions Causing Human Inherited Disease.
Hum Mutat
; 37(1): 65-73, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26466920
18.
Guanine holes are prominent targets for mutation in cancer and inherited disease.
PLoS Genet
; 9(9): e1003816, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24086153
19.
The somatic autosomal mutation matrix in cancer genomes.
Hum Genet
; 134(8): 851-64, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26001532
20.
Long non-coding RNA: A new paradigm for lung cancer.
Mol Carcinog
; 54(11): 1235-51, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26332907