Rothmund-Thomson syndrome
Open Access
- 29 January 2010
- journal article
- review article
- Published by Springer Science and Business Media LLC in Orphanet Journal of Rare Diseases
- Vol. 5 (1), 1-16
- https://doi.org/10.1186/1750-1172-5-2
Abstract
No abstract availableKeywords
This publication has 110 references indexed in Scilit:
- Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia GeneAmerican Journal of Human Genetics, 2010
- Dual DNA unwinding activities of the Rothmund–Thomson syndrome protein, RECQ4The EMBO Journal, 2009
- RecQ4 Facilitates UV Light-induced DNA Damage Repair through Interaction with Nucleotide Excision Repair Factor Xeroderma Pigmentosum Group A (XPA)Online Journal of Public Health Informatics, 2008
- Identification of new RECQL4 mutations in Caucasian Rothmund–Thomson patients and analysis of sensitivity to a wide range of genotoxic agentsMutation research. Reviews in mutation research, 2008
- The mutation spectrum in RECQL4 diseasesEuropean Journal of Human Genetics, 2008
- Sensitivity of RECQL4-deficient fibroblasts from Rothmund–Thomson syndrome patients to genotoxic agentsHuman Genetics, 2008
- PARP-1 and Ku compete for repair of DNA double strand breaks by distinct NHEJ pathwaysNucleic Acids Research, 2006
- Synchronous Multifocal Osteosarcoma: Case Report and Literature ReviewSarcoma, 2006
- Mechanisms of RecQ helicases in pathways of DNA metabolism and maintenance of genomic stabilityBiochemical Journal, 2006
- The N-Terminal Noncatalytic Region of Xenopus RecQ4 Is Required for Chromatin Binding of DNA Polymerase α in the Initiation of DNA ReplicationMolecular and Cellular Biology, 2006