Associated Papers
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
Role and Regulation of the RECQL4 Family during Genomic Integrity Maintenance.
Luong TT et al.
Genes, 2021
Rothmund-Thomson Syndrome-Like RECQL4 Truncating Mutations Cause a Haploinsufficient Low-Bone-Mass Phenotype in Mice.
Castillo-Tandazo W et al.
Molecular and Cellular Biology, 2021
Pan-cancer whole-genome analyses of metastatic solid tumours.
Priestley P et al.
Nature, 2019
Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.
Colombo EA et al.
International Journal of Molecular Sciences, 2018
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.
Piard J et al.
Clinical Genetics, 2015
DNA helicases associated with genetic instability, cancer, and aging.
Suhasini AN et al.
Advances in Experimental Medicine and Biology, 2013
Long-term follow-up and molecular characterization of a patient with a RECQL4 mutation spectrum disorder.
Fradin M et al.
Dermatology (basel, Switzerland), 2013
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
A patient with Baller-Gerold syndrome and midline NK/T lymphoma.
Debeljak M et al.
American Journal of Medical Genetics. Part A, 2009
The mutation spectrum in RECQL4 diseases.
Siitonen HA et al.
European Journal of Human Genetics : Ejhg, 2009
The molecular role of the Rothmund-Thomson-, RAPADILINO- and Baller-Gerold-gene product, RECQL4: recent progress.
Dietschy T et al.
Cellular and Molecular Life Sciences : Cmls, 2007
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.
Van Maldergem L et al.
Journal of Medical Genetics, 2006
Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping.
Larizza L et al.
Cancer Letters, 2006
Homologous recombination and maintenance of genome integrity: cancer and aging through the prism of human RecQ helicases.
Ouyang KJ et al.
Mechanisms of Ageing and Development, 0
Disease-causing missense mutations in human DNA helicase disorders.
Suhasini AN et al.
Mutation Research, 0