Varaico: Literature-Extracted Genetic Variants

Gene:DDB2
Variant:p.K244E
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DDB2

NM_000107.3:p.K244E

Associated Papers

Structural basis of cyclobutane pyrimidine dimer recognition by UV-DDB in the nucleosome.

Matsumoto S et al.

Nature Communications, 2025

XPC-RAD23B enhances UV-DDB binding to DNA to facilitate lesion search in nucleotide excision repair.

An S et al.

Nucleic Acids Research, 2025

Disrupting DDB2-DNA Interaction by Lapatinib Enhances Chemotherapy Sensitivity.

Hsu SC et al.

International Journal of Biological Sciences, 2025

Sequential post-translational modifications regulate damaged DNA-binding protein DDB2 function.

Kaneoka H et al.

Journal of Biochemistry, 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

Single-molecule analysis of DNA-binding proteins from nuclear extracts (SMADNE).

Schaich MA et al.

Nucleic Acids Research, 2023

The role of UV-DDB in processing 8-oxoguanine during base excision repair.

Nagpal A et al.

Biochemical Society Transactions, 2022

Global and transcription-coupled repair of 8-oxoG is initiated by nucleotide excision repair proteins.

Kumar N et al.

Nature Communications, 2022

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

Expanding molecular roles of UV-DDB: Shining light on genome stability and cancer.

Beecher M et al.

Dna Repair, 2020

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

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
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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

UV radiation-induced SUMOylation of DDB2 regulates nucleotide excision repair.

Han C et al.

Carcinogenesis, 2017

Systems biology approach for mutational and site-specific structural investigation of DNA repair genes for xeroderma pigmentosum.

Sehgal M et al.

Gene, 2014

Single-molecule analysis reveals human UV-damaged DNA-binding protein (UV-DDB) dimerizes on DNA via multiple kinetic intermediates.

Ghodke H et al.

Proceedings of the National Academy of Sciences of the United States of America, 2014

Chromatin retention of DNA damage sensors DDB2 and XPC through loss of p97 segregase causes genotoxicity.

Puumalainen MR et al.

Nature Communications, 2014

DDB2 promotes chromatin decondensation at UV-induced DNA damage.

Luijsterburg MS et al.

The Journal of Cell Biology, 2012

The molecular basis of CRL4DDB2/CSA ubiquitin ligase architecture, targeting, and activation.

Fischer ES et al.

Cell, 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

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

Ubiquitylation-independent degradation of Xeroderma pigmentosum group C protein is required for efficient nucleotide excision repair.

Wang QE et al.

Nucleic Acids Research, 2007

UV-induced ubiquitylation of XPC complex, the UV-DDB-ubiquitin ligase complex, and DNA repair.

Sugasawa K

Journal of Molecular Histology, 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

Xeroderma pigmentosum complementation group E and UV-damaged DNA-binding protein.

Tang J et al.

Dna Repair, 2002

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

[Disorders of DNA repair--xeroderma pigmentosum, and other hereditary diseases with abnormal DNA repair].

Sugano T et al.

Tanpakushitsu Kakusan Koso. Protein, Nucleic Acid, Enzyme, 1988

[Repair of DNA damaged by methylmethane sulfonate in normal human lymphocytes and in xeroderma pigmentosum].

Genter EI et al.

Tsitologiia, 1985

Overview of xeroderma pigmentosum proteins architecture, mutations and post-translational modifications.

Feltes BC et al.

Mutation Research. Reviews in Mutation Research, 0

Revisiting the structural features of the xeroderma pigmentosum proteins: Focus on mutations and knowledge gaps.

Feltes BC

Mutation Research. Reviews in Mutation Research, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."