Associated Papers
Limb reduction in an Esco2 cohesinopathy mouse model is mediated by p53-dependent apoptosis and vascular disruption.
Strasser AS et al.
Nature Communications, 2024
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
Improved transcription and translation with L-leucine stimulation of mTORC1 in Roberts syndrome.
Xu B et al.
Bmc Genomics, 2016
DNA helicases FANCM and DDX11 are determinants of PARP inhibitor sensitivity.
Stoepker C et al.
Dna Repair, 2015
Stimulation of mTORC1 with L-leucine rescues defects associated with Roberts syndrome.
Xu B et al.
Plos Genetics, 2013
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
The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies.
Gerkes EH et al.
European Journal of Medical Genetics, 0
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