Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.E791A
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ERCC5

NM_000123.4:p.E791A

Associated Papers

The interaction of XPG with TFIIH through p62 and XPD is required for the completion of nucleotide excision repair.

Kim M et al.

Nucleic Acids Research, 2026

The interaction of XPG with TFIIH through p62 and XPD is required for the completion of nucleotide excision repair.

Kim M et al.

Biorxiv : the Preprint Server for Biology, 2025

Active DNA damage eviction by HLTF stimulates nucleotide excision repair.

van Toorn M et al.

Molecular Cell, 2022

XPF-ERCC1 protects liver, kidney and blood homeostasis outside the canonical excision repair pathways.

Mulderrig L et al.

Plos Genetics, 2020

Structural basis of TFIIH activation for nucleotide excision repair.

Kokic G et al.

Nature Communications, 2019

BERing the burden of damage: Pathway crosstalk and posttranslational modification of base excision repair proteins regulate DNA damage management.

Limpose KL et al.

Dna Repair, 2017

Transcription-coupled nucleotide excision repair factors promote R-loop-induced genome instability.

Sollier J et al.

Molecular Cell, 2014

Cell-autonomous progeroid changes in conditional mouse models for repair endonuclease XPG deficiency.

Barnhoorn S et al.

Plos Genetics, 2014

The PCNA binding domain of Rad2p plays a role in mutagenesis by modulating the cell cycle in response to DNA damage.

Yu SL et al.

Dna Repair, 2014

FANCJ localization by mismatch repair is vital to maintain genomic integrity after UV irradiation.

Guillemette S et al.

Cancer Research, 2014

XPG and XPF endonucleases trigger chromatin looping and DNA demethylation for accurate expression of activated genes.

Le May N et al.

Molecular Cell, 2012

XPG: its products and biological roles.

Schärer OD

Advances in Experimental Medicine and Biology, 2008

Tissue specific mutagenic and carcinogenic responses in NER defective mouse models.

Wijnhoven SW et al.

Mutation Research, 2007

Suppression of UV-induced apoptosis by the human DNA repair protein XPG.

Clément V et al.

Cell Death and Differentiation, 2006

The spacer region of XPG mediates recruitment to nucleotide excision repair complexes and determines substrate specificity.

Dunand-Sauthier I et al.

The Journal of Biological Chemistry, 2005

Identification of the XPG region that causes the onset of Cockayne syndrome by using Xpg mutant mice generated by the cDNA-mediated knock-in method.

Shiomi N et al.

Molecular and Cellular Biology, 2004

Deficiency in the nuclease activity of xeroderma pigmentosum G in mice leads to hypersensitivity to UV irradiation.

Tian M et al.

Molecular and Cellular Biology, 2004

The XPG story.

Clarkson SG

Biochimie, 2003

Requirement of yeast RAD2, a homolog of human XPG gene, for efficient RNA polymerase II transcription. implications for Cockayne syndrome.

Lee SK et al.

Cell, 2002

TFIIH with inactive XPD helicase functions in transcription initiation but is defective in DNA repair.

Winkler GS et al.

The Journal of Biological Chemistry, 2000

Conserved residues of human XPG protein important for nuclease activity and function in nucleotide excision repair.

Constantinou A et al.

The Journal of Biological Chemistry, 1999

Base excision repair of oxidative DNA damage activated by XPG protein.

Klungland A et al.

Molecular Cell, 1999

Cockayne syndrome pathogenesis: lessons from mouse models.

Jaarsma D et al.

Mechanisms of Ageing and Development, 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."