Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
Integrating evidence from protein domains to identify cancer driver mutations.
Ostroverkhova D et al.
Protein Science : a Publication of the Protein Society, 2026
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
Brazilian XP-E siblings carrying a novel DDB2 variant developed early-onset melanoma: a case report.
de Souza Timoteo AR et al.
Bmc Medical Genomics, 2023
Targeting p53 pathways: mechanisms, structures, and advances in therapy.
Wang H et al.
Signal Transduction and Targeted Therapy, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
ERα determines the chemo-resistant function of mutant p53 involving the switch between lincRNA-p21 and DDB2 expressions.
He YH et al.
Molecular Therapy. Nucleic Acids, 2021
A novel DDB2 mutation causes defective recognition of UV-induced DNA damages and prevalent equine squamous cell carcinoma.
Chen L et al.
Dna Repair, 2021
Novel mutation identified in the DDB2 gene in patients with xeroderma pigmentosum group-E.
Karagün E et al.
International Journal of Dermatology, 2020
Identification of a novel DDB2 mutation in a Chinese Han family with Xeroderma pigmentosum group E:a case report and literature review.
Yang R et al.
Bmc Medical Genetics, 2020
Do Mutations Turn p53 into an Oncogene?
Pitolli C et al.
International Journal of Molecular Sciences, 2019
TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A et al.
Plos Computational Biology, 2019
Dynamics of DDB2-DDB1 complex under different naturally-occurring mutants in Xeroderma Pigmentosum disease.
Feltes BC et al.
Biochimica Et Biophysica Acta. General Subjects, 2018
Pre-clinical efficacy and synergistic potential of the MDM2-p53 antagonists, Nutlin-3 and RG7388, as single agents and in combined treatment with cisplatin in ovarian cancer.
Zanjirband M et al.
Oncotarget, 2016
The Multifunctions of WD40 Proteins in Genome Integrity and Cell Cycle Progression.
Zhang C et al.
Journal of Genomics, 2015
Systems biology approach for mutational and site-specific structural investigation of DNA repair genes for xeroderma pigmentosum.
Sehgal M et al.
Gene, 2014
Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons.
Klein CJ et al.
Neurology, 2014
Detecting UV-lesions in the genome: The modular CRL4 ubiquitin ligase does it best!
Scrima A et al.
Febs Letters, 2011
Multiple skin cancers in adults with mutations in the XP-E (DDB2) DNA repair gene.
Oh KS et al.
The Journal of Investigative Dermatology, 2011
p53 induces distinct epigenetic states at its direct target promoters.
Vrba L et al.
Bmc Genomics, 2008
Regulation and role of Arabidopsis CUL4-DDB1A-DDB2 in maintaining genome integrity upon UV stress.
Molinier J et al.
Plos Genetics, 2008
Dynamic in vivo interaction of DDB2 E3 ubiquitin ligase with UV-damaged DNA is independent of damage-recognition protein XPC.
Luijsterburg MS et al.
Journal of Cell Science, 2007
DCAFs, the missing link of the CUL4-DDB1 ubiquitin ligase.
Lee J et al.
Molecular Cell, 2007
Stealing the spotlight: CUL4-DDB1 ubiquitin ligase docks WD40-repeat proteins to destroy.
Higa LA et al.
Cell Division, 2007
Ubiquitylation-independent degradation of Xeroderma pigmentosum group C protein is required for efficient nucleotide excision repair.
Wang QE et al.
Nucleic Acids Research, 2007
CUL4-DDB1 ubiquitin ligase interacts with multiple WD40-repeat proteins and regulates histone methylation.
Higa LA et al.
Nature Cell Biology, 2006
An intact sequence-specific DNA-binding domain is required for human cytomegalovirus-mediated sequestration of p53 and may promote in vivo binding to the viral genome during infection.
Rosenke K et al.
Virology, 2006
Xeroderma pigmentosum group E and DDB2, a smaller subunit of damage-specific DNA binding protein: proposed classification of xeroderma pigmentosum, Cockayne syndrome, and ultraviolet-sensitive syndrome.
Itoh T
Journal of Dermatological Science, 2006
DDB1-DDB2 (xeroderma pigmentosum group E) protein complex recognizes a cyclobutane pyrimidine dimer, mismatches, apurinic/apyrimidinic sites, and compound lesions in DNA.
Wittschieben BØ et al.
The Journal of Biological Chemistry, 2005
UV-induced ubiquitylation of XPC protein mediated by UV-DDB-ubiquitin ligase complex.
Sugasawa K et al.
Cell, 2005
DDB2, the xeroderma pigmentosum group E gene product, is directly ubiquitylated by Cullin 4A-based ubiquitin ligase complex.
Matsuda N et al.
Dna Repair, 2005
True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product.
Rapić-Otrin V et al.
Human Molecular Genetics, 2003
p53 responsive nucleotide excision repair gene products p48 and XPC, but not p53, localize to sites of UV-irradiation-induced DNA damage, in vivo.
Fitch ME et al.
Carcinogenesis, 2003
The p127 subunit (DDB1) of the UV-DNA damage repair binding protein is essential for the targeted degradation of STAT1 by the V protein of the paramyxovirus simian virus 5.
Andrejeva J et al.
Journal of Virology, 2002
Hepatitis B virus X protein associated with UV-DDB1 induces cell death in the nucleus and is functionally antagonized by UV-DDB2.
Bontron S et al.
The Journal of Biological Chemistry, 2002
Xeroderma pigmentosum complementation group E and UV-damaged DNA-binding protein.
Tang J et al.
Dna Repair, 2002
Human damage-specific DNA-binding protein p48. Characterization of XPE mutations and regulation following UV irradiation.
Nichols AF et al.
The Journal of Biological Chemistry, 2000
Cullin 4A associates with the UV-damaged DNA-binding protein DDB.
Shiyanov P et al.
The Journal of Biological Chemistry, 1999
A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.
Cleaver JE et al.
Human Mutation, 1999
Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype.
Nichols AF et al.
The Journal of Biological Chemistry, 1996