Detalhe da pesquisa
1.
Y-family DNA polymerases and their role in tolerance of cellular DNA damage.
Nat Rev Mol Cell Biol;
13(3): 141-52, 2012 Feb 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22358330
2.
Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.
Brain;
146(12): 5044-5059, 2023 12 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38040034
3.
Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.
Hum Mol Genet;
30(18): 1711-1720, 2021 08 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33909043
4.
UBR5 interacts with the replication fork and protects DNA replication from DNA polymerase η toxicity.
Nucleic Acids Res;
47(21): 11268-11283, 2019 12 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31586398
5.
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy.
Am J Hum Genet;
98(4): 627-42, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26996949
6.
Phosphorylation regulates human polη stability and damage bypass throughout the cell cycle.
Nucleic Acids Res;
45(16): 9441-9454, 2017 Sep 19.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28934491
7.
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.
Proc Natl Acad Sci U S A;
113(9): E1236-45, 2016 Mar 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26884178
8.
Regulation of translesion synthesis DNA polymerase eta by monoubiquitination.
Mol Cell;
37(3): 396-407, 2010 Feb 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20159558
9.
Three DNA polymerases, recruited by different mechanisms, carry out NER repair synthesis in human cells.
Mol Cell;
37(5): 714-27, 2010 Mar 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20227374
10.
Chromatin association of the SMC5/6 complex is dependent on binding of its NSE3 subunit to DNA.
Nucleic Acids Res;
44(3): 1064-79, 2016 Feb 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26446992
11.
TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin.
Proc Natl Acad Sci U S A;
112(5): 1499-504, 2015 Feb 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25605938
12.
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.
Am J Hum Genet;
92(5): 807-19, 2013 May 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23623389
13.
Structure and mechanism of human DNA polymerase eta.
Nature;
465(7301): 1044-8, 2010 Jun 24.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20577208
14.
XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency.
J Allergy Clin Immunol;
136(4): 1007-17, 2015 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26255102
15.
An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria.
Cancer Cell;
10(2): 121-32, 2006 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16904611
16.
A role for chromatin remodellers in replication of damaged DNA.
Nucleic Acids Res;
40(15): 7393-403, 2012 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22638582
17.
Human exonuclease 1 connects nucleotide excision repair (NER) processing with checkpoint activation in response to UV irradiation.
Proc Natl Acad Sci U S A;
108(33): 13647-52, 2011 Aug 16.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21808022
18.
The Y-family DNA polymerase kappa (pol kappa) functions in mammalian nucleotide-excision repair.
Nat Cell Biol;
8(6): 640-2, 2006 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16738703
19.
The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.
Pediatr Neurol;
141: 79-86, 2023 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36791574
20.
Maintaining integrity.
Nat Cell Biol;
6(10): 923-8, 2004 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15459720