Detalhe da pesquisa
1.
Cockayne syndrome group A and ferrochelatase finely tune ribosomal gene transcription and its response to UV irradiation.
Nucleic Acids Res
; 49(19): 10911-10930, 2021 11 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34581821
2.
TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy.
Hum Mutat
; 43(12): 2222-2233, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36259739
3.
Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene.
Clin Genet
; 99(6): 842-848, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33733458
4.
A damaged DNA binding protein 2 mutation disrupting interaction with proliferating-cell nuclear antigen affects DNA repair and confers proliferation advantage.
Biochim Biophys Acta Mol Cell Res
; 1865(6): 898-907, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29604309
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.
Expression of Concern: Spatiotemporal dynamics of p21CDKN1A protein recruitment to DNA-damage sites and interaction with proliferating cell nuclear antigen.
J Cell Sci
; 135(21)2022 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36317699
7.
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.
J Med Genet
; 55(5): 329-343, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29572252
8.
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
9.
Thyroid hormone regulates fibronectin expression through the activation of the hypoxia inducible factor 1.
Biochem Biophys Res Commun
; 493(3): 1304-1310, 2017 11 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-28974422
10.
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
11.
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.
J Med Genet
; 52(4): 269-74, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25612912
12.
CBP and p300 acetylate PCNA to link its degradation with nucleotide excision repair synthesis.
Nucleic Acids Res
; 42(13): 8433-48, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24939902
13.
Histone methyltransferase DOT1L drives recovery of gene expression after a genotoxic attack.
PLoS Genet
; 9(7): e1003611, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23861670
14.
XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression.
Hum Mol Genet
; 22(6): 1061-73, 2013 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23221806
15.
Adhesion to type V collagen enhances staurosporine-induced apoptosis of adrenocortical cancer cells.
Tumour Biol
; 35(10): 9949-55, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25004807
16.
Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress.
Hum Mutat
; 34(3): 481-9, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23255472
17.
Electrochemotherapy in the treatment of Kaposi sarcoma cutaneous lesions: a two-center prospective phase II trial.
Ann Surg Oncol
; 19(1): 192-8, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21822561
18.
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage.
Proc Natl Acad Sci U S A
; 106(15): 6209-14, 2009 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-19329487
19.
Mussel-inspired antimicrobial coating on PTFE barrier membranes for guided tissue regeneration.
Biomed Mater
; 16(3)2021 04 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33770778
20.
Degradation of p21CDKN1A after DNA damage is independent of type of lesion, and is not required for DNA repair.
DNA Repair (Amst)
; 8(7): 778-85, 2009 Jul 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-19321391