Varaico: Literature-Extracted Genetic Variants

Gene:ESCO2
Variant:p.W539G
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ESCO2

NM_001017420.3:p.W539G

Associated Papers

ATM-ESCO2-SMC3 axis promotes 53BP1 recruitment in response to DNA damage and safeguards genome integrity by stabilizing cohesin complex.

Fu J et al.

Nucleic Acids Research, 2023

Vertebrate CTF18 and DDX11 essential function in cohesion is bypassed by preventing WAPL-mediated cohesin release.

Kawasumi R et al.

Genes & Development, 2021

An ever-changing landscape in Roberts syndrome biology: Implications for macromolecular damage.

Mfarej MG et al.

Plos Genetics, 2020

Cul4-Ddb1 ubiquitin ligases facilitate DNA replication-coupled sister chromatid cohesion through regulation of cohesin acetyltransferase Esco2.

Sun H et al.

Plos Genetics, 2019

Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations.

Colombo EA et al.

Frontiers in Pediatrics, 2019

ESCO1/2's roles in chromosome structure and interphase chromatin organization.

Kawasumi R et al.

Genes & Development, 2017

Structural Basis of Eco1-Mediated Cohesin Acetylation.

Chao WC et al.

Scientific Reports, 2017

Molecular Basis for Cohesin Acetylation by Establishment of Sister Chromatid Cohesion N-Acetyltransferase ESCO1.

Rivera-Colón Y et al.

The Journal of Biological Chemistry, 2016

Chromatin determinants of the inner-centromere rely on replication factors with functions that impart cohesion.

Abe T et al.

Oncotarget, 2016

Sister Chromatid Cohesion Establishment Factor ESCO1 Operates by Substrate-Assisted Catalysis.

Kouznetsova E et al.

Structure (london, England : 1993), 2016

A genetic screen to discover pathways affecting cohesin function in Schizosaccharomyces pombe identifies chromatin effectors.

Chen Z et al.

G3 (bethesda, Md.), 2012

Eco1 is important for DNA damage repair in S. cerevisiae.

Lu S et al.

Cell Cycle (georgetown, Tex.), 2010

Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome.

Vega H et al.

Journal of Medical Genetics, 2010

The cellular phenotype of Roberts syndrome fibroblasts as revealed by ectopic expression of ESCO2.

van der Lelij P et al.

Plos One, 2009

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.

Gordillo M et al.

Human Molecular Genetics, 2008

Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.

Schüle B et al.

American Journal of Human Genetics, 2005

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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."