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
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
Inglês
| MEDLINE | ID: mdl-36259739
3.
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
Inglês
| MEDLINE | ID: mdl-26996949
4.
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
Inglês
| MEDLINE | ID: mdl-29572252
5.
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
Inglês
| MEDLINE | ID: mdl-26884178
6.
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
Inglês
| MEDLINE | ID: mdl-25605938
7.
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
Inglês
| MEDLINE | ID: mdl-23623389
8.
Histone methyltransferase DOT1L drives recovery of gene expression after a genotoxic attack.
PLoS Genet
; 9(7): e1003611, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-23861670
9.
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
Inglês
| MEDLINE | ID: mdl-23221806
10.
Reference genes for gene expression analysis in proliferating and differentiating human keratinocytes.
Exp Dermatol
; 24(4): 314-6, 2015 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-25651864
11.
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
Inglês
| MEDLINE | ID: mdl-23255472
12.
A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A.
Nat Genet
; 36(7): 714-9, 2004 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-15220921
13.
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
Inglês
| MEDLINE | ID: mdl-19329487
14.
In vivo destabilization and functional defects of the xeroderma pigmentosum C protein caused by a pathogenic missense mutation.
Mol Cell Biol
; 27(19): 6606-14, 2007 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-17682058
15.
Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene.
Hum Mutat
; 30(3): 438-45, 2009 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-19085937
16.
Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy.
DNA Repair (Amst)
; 7(5): 744-50, 2008 May 03.
Artigo
Inglês
| MEDLINE | ID: mdl-18329345
17.
Rac3-induced neuritogenesis requires binding to Neurabin I.
Mol Biol Cell
; 17(5): 2391-400, 2006 May.
Artigo
Inglês
| MEDLINE | ID: mdl-16525025
18.
Cockayne Syndrome Type A Protein Protects Primary Human Keratinocytes from Senescence.
J Invest Dermatol
; 139(1): 38-50, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30009828
19.
Transcription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne syndrome.
Mol Cell Biol
; 25(18): 8368-78, 2005 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-16135823
20.
Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships.
Hum Mutat
; 28(1): 92-6, 2007 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-16977596