Detalhe da pesquisa
1.
Trichothiodystrophy causative TFIIEß mutation affects transcription in highly differentiated tissue.
Hum Mol Genet
; 26(23): 4689-4698, 2017 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973399
2.
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
3.
Cell-autonomous progeroid changes in conditional mouse models for repair endonuclease XPG deficiency.
PLoS Genet
; 10(10): e1004686, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25299392
4.
The Cerebro-oculo-facio-skeletal Syndrome Point Mutation F231L in the ERCC1 DNA Repair Protein Causes Dissociation of the ERCC1-XPF Complex.
J Biol Chem
; 290(33): 20541-55, 2015 Aug 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-26085086
5.
Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia.
Am J Hum Genet
; 92(5): 800-6, 2013 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23623386
6.
ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination.
Am J Med Genet A
; 164A(11): 2892-900, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25251875
7.
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
8.
MicroRNA-mediated gene silencing modulates the UV-induced DNA-damage response.
EMBO J
; 28(14): 2090-9, 2009 Jul 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-19536137
9.
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
em Inglês
| MEDLINE | ID: mdl-15220921
10.
SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo.
Am J Med Genet A
; 158A(9): 2204-13, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22888040
11.
A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis.
Nature
; 444(7122): 1038-43, 2006 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-17183314
12.
Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder.
Hum Mol Genet
; 18(18): 3365-74, 2009 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19525295
13.
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
em Inglês
| MEDLINE | ID: mdl-18329345
14.
A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.
J Clin Invest
; 116(1): 137-45, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16357942
15.
Neurological symptoms and natural course of xeroderma pigmentosum.
Brain
; 131(Pt 8): 1979-89, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18567921
16.
The HhH domain of the human DNA repair protein XPF forms stable homodimers.
Proteins
; 70(4): 1551-63, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17912758
17.
Regulation of UV-induced DNA damage response by ubiquitylation.
DNA Repair (Amst)
; 6(9): 1231-42, 2007 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17363340
18.
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
em Inglês
| MEDLINE | ID: mdl-16135823
19.
Dynamics of relative chromosome position during the cell cycle.
Mol Biol Cell
; 16(2): 769-75, 2005 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-15574874
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
em Inglês
| MEDLINE | ID: mdl-16977596