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1.
Ubiquitination of DNA Damage-Stalled RNAPII Promotes Transcription-Coupled Repair.
Cell
; 180(6): 1228-1244.e24, 2020 03 19.
Article
in English
| MEDLINE | ID: mdl-32142649
2.
Deep intronic founder mutations identified in the ERCC4/XPF gene are potential therapeutic targets for a high-frequency form of xeroderma pigmentosum.
Proc Natl Acad Sci U S A
; 120(27): e2217423120, 2023 07 04.
Article
in English
| MEDLINE | ID: mdl-37364129
3.
Effect of Enoxaparin and Daikenchuto Coadministration on Hepatic Disorder Markers in Gynecological Cancer Patients after Abdominal Surgery.
Biol Pharm Bull
; 47(4): 758-763, 2024.
Article
in English
| MEDLINE | ID: mdl-38569843
4.
Topoisomerase I-driven repair of UV-induced damage in NER-deficient cells.
Proc Natl Acad Sci U S A
; 117(25): 14412-14420, 2020 06 23.
Article
in English
| MEDLINE | ID: mdl-32513688
5.
Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex.
J Med Genet
; 57(4): 245-253, 2020 04.
Article
in English
| MEDLINE | ID: mdl-31712251
6.
Novel function of HATs and HDACs in homologous recombination through acetylation of human RAD52 at double-strand break sites.
PLoS Genet
; 14(3): e1007277, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29590107
7.
PCNA ubiquitylation ensures timely completion of unperturbed DNA replication in fission yeast.
PLoS Genet
; 13(5): e1006789, 2017 May.
Article
in English
| MEDLINE | ID: mdl-28481910
8.
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.
Article
in English
| MEDLINE | ID: mdl-29572252
9.
Common TFIIH recruitment mechanism in global genome and transcription-coupled repair subpathways.
Nucleic Acids Res
; 45(22): 13043-13055, 2017 Dec 15.
Article
in English
| MEDLINE | ID: mdl-29069470
10.
Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations.
J Hum Genet
; 63(4): 417-423, 2018 Apr.
Article
in English
| MEDLINE | ID: mdl-29403087
11.
Three DNA polymerases, recruited by different mechanisms, carry out NER repair synthesis in human cells.
Mol Cell
; 37(5): 714-27, 2010 Mar 12.
Article
in English
| MEDLINE | ID: mdl-20227374
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.
Article
in English
| MEDLINE | ID: mdl-23623389
13.
A 10-year follow-up of a child with mild case of xeroderma pigmentosum complementation group D diagnosed by whole-genome sequencing.
Photodermatol Photoimmunol Photomed
; 32(4): 174-80, 2016 Jul.
Article
in English
| MEDLINE | ID: mdl-26993158
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.
Article
in English
| MEDLINE | ID: mdl-26255102
15.
Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency.
Clin Immunol
; 160(2): 255-60, 2015 Oct.
Article
in English
| MEDLINE | ID: mdl-26172957
16.
Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome.
PLoS Genet
; 8(11): e1002945, 2012.
Article
in English
| MEDLINE | ID: mdl-23144622
17.
A Japanese Case of Galli-Galli Disease due to a Previously Unreported POGLUT1 Mutation.
Acta Derm Venereol
; 99(4): 458-459, 2019 Apr 01.
Article
in English
| MEDLINE | ID: mdl-30653241
18.
Endogenous aldehyde-induced DNA-protein crosslinks are resolved by transcription-coupled repair.
Nat Cell Biol
; 2024 Apr 10.
Article
in English
| MEDLINE | ID: mdl-38600234
19.
A case of Cockayne syndrome with unusually mild clinical manifestations.
J Dermatol
; 50(4): 541-545, 2023 Apr.
Article
in English
| MEDLINE | ID: mdl-36597170
20.
Inducing multiple nicks promotes interhomolog homologous recombination to correct heterozygous mutations in somatic cells.
Nat Commun
; 14(1): 5607, 2023 09 15.
Article
in English
| MEDLINE | ID: mdl-37714828