A Roberts Syndrome Individual With Differential Genotoxin Sensitivity and a DNA Damage Response Defect-Reference-Cited by-同舟云学术

A Roberts Syndrome Individual With Differential Genotoxin Sensitivity and a DNA Damage Response Defect

Published:2019-04 Issue:5 Volume:103 Page:1194-1202
ISSN:0360-3016
Container-title:International Journal of Radiation Oncology*Biology*Physics
language:en
Short-container-title:International Journal of Radiation Oncology*Biology*Physics

Author:

McKay Michael J.,Craig Jeffery,Kalitsis Paul,Kozlov Sergei,Verschoor Sandra,Chen Phillip,Lobachevsky Pavel,Vasireddy Raja,Yan Yuqian,Ryan Jacinta,McGillivray George,Savarirayan Ravi,Lavin Martin F.,Ramsay Robert G.,Xu Huiling

Funder

National Health and Medical Research Council

Publisher

Elsevier BV

Subject

Cancer Research,Radiology, Nuclear Medicine and imaging,Oncology,Radiation

Reference36 articles.

1. A child with double cleft lip and palate, protrusion of the intermaxillary portion of the upper jaw and imperfect development of the bones of the four extremities;Roberts;Ann Surg,1919

2. The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity;Gordillo;Hum Mol Genet,2008

3. Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion;Vega;Nat Genet,2005

4. 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;J Med Genet,2010

5. Sequence conservation of the rad21 Schizosaccharomyces pombe DNA double-strand break repair gene in human and mouse;McKay;Genomics,1996

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1. Limb reduction in an Esco2 cohesinopathy mouse model is mediated by p53-dependent apoptosis and vascular disruption;Nature Communications;2024-08-21

2. Cohesin — bridging the gap among gene transcription, genome stability, and human diseases;FEBS Letters;2024-06-09

3. ATM–ESCO2–SMC3 axis promotes 53BP1 recruitment in response to DNA damage and safeguards genome integrity by stabilizing cohesin complex;Nucleic Acids Research;2023-06-28

4. Cohesin: an emerging master regulator at the heart of cardiac development;Molecular Biology of the Cell;2023-05-01

5. A child with Roberts syndrome presenting severe craniofacial anomaly;Journal of Cleft Lip Palate and Craniofacial Anomalies;2022