Identification of new RECQL4 mutations in Caucasian Rothmund–Thomson patients and analysis of sensitivity to a wide range of genotoxic agents

Author:

Cabral Rosa Estela Caseira,Queille Sophie,Bodemer Christine,de Prost Yves,Neto Januario Bispo Cabral,Sarasin Alain,Daya-Grosjean Leela

Publisher

Elsevier BV

Subject

Health, Toxicology and Mutagenesis,Genetics,Molecular Biology

Reference37 articles.

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2. Rothmund–Thomson syndrome responsible gene, RECQL4: genomic structure and products;Kitao;Genomics,1999

3. Mutations in RECQL4 cause a subset of cases of Rothmund–Thomson syndrome;Kitao;Nat. Genet.,1999

4. Human RECQ1 is a DNA damage responsive protein required for genotoxic stress resistance and suppression of sister chromatid exchanges;Sharma;PLoS ONE,2007

5. RECQL, a member of the RecQ family of DNA helicases, suppresses chromosomal instability;Sharma;Mol. Cell. Biol.,2007

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1. Rothmund-Thomson syndrome, a disorder far from solved;Frontiers in Aging;2023-11-10

2. Molecular Mechanisms of the RECQ4 Pathogenic Mutations;Frontiers in Molecular Biosciences;2021-11-18

3. Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms;International Journal of Molecular Sciences;2021-01-18

4. RECQ DNA Helicases and Osteosarcoma;Current Advances in the Science of Osteosarcoma;2020

5. Helicase Dysfunctions in Human Diseases;Helicases from All Domains of Life;2019

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