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Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae.
Eppley S, Hopkin RJ, Mendelsohn B, Slavotinek AM. Eppley S, et al. Am J Med Genet A. 2017 Nov;173(11):3075-3081. doi: 10.1002/ajmg.a.38382. Epub 2017 Sep 28. Am J Med Genet A. 2017. PMID: 28960803
We present two new cases of Warsaw Breakage Syndrome (WABS), an autosomal recessive cohesinopathy, in sisters aged 13 and 11 years who both had compound heterozygous mutations in DDX11. ...
We present two new cases of Warsaw Breakage Syndrome (WABS), an autosomal recessive cohesinopathy, in sisters aged 13 a …
Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion.
van Schie JJM, Faramarz A, Balk JA, Stewart GS, Cantelli E, Oostra AB, Rooimans MA, Parish JL, de Almeida Estéves C, Dumic K, Barisic I, Diderich KEM, van Slegtenhorst MA, Mahtab M, Pisani FM, Te Riele H, Ameziane N, Wolthuis RMF, de Lange J. van Schie JJM, et al. Nat Commun. 2020 Aug 27;11(1):4287. doi: 10.1038/s41467-020-18066-8. Nat Commun. 2020. PMID: 32855419 Free PMC article.
Warsaw Breakage Syndrome (WABS) is a rare disorder related to cohesinopathies and Fanconi anemia, caused by bi-allelic mutations in DDX11. ...
Warsaw Breakage Syndrome (WABS) is a rare disorder related to cohesinopathies and Fanconi anemia, caused by bi-allelic …
DNA helicases FANCM and DDX11 are determinants of PARP inhibitor sensitivity.
Stoepker C, Faramarz A, Rooimans MA, van Mil SE, Balk JA, Velleuer E, Ameziane N, Te Riele H, de Winter JP. Stoepker C, et al. DNA Repair (Amst). 2015 Feb;26:54-64. doi: 10.1016/j.dnarep.2014.12.003. Epub 2014 Dec 24. DNA Repair (Amst). 2015. PMID: 25583207
Lymphoblastoid cell lines derived from individuals with FA or clinically related syndromes, such as Warsaw breakage syndrome, were tested for PARP inhibitor sensitivity. ...
Lymphoblastoid cell lines derived from individuals with FA or clinically related syndromes, such as Warsaw breakage syndrom …
Roles of ChlR1 DNA helicase in replication recovery from DNA damage.
Shah N, Inoue A, Woo Lee S, Beishline K, Lahti JM, Noguchi E. Shah N, et al. Exp Cell Res. 2013 Aug 15;319(14):2244-53. doi: 10.1016/j.yexcr.2013.06.005. Epub 2013 Jun 22. Exp Cell Res. 2013. PMID: 23797032 Free PMC article.
The ChlR1 DNA helicase is mutated in Warsaw breakage syndrome characterized by developmental anomalies, chromosomal breakage, and sister chromatid cohesion defects. ...
The ChlR1 DNA helicase is mutated in Warsaw breakage syndrome characterized by developmental anomalies, chromosomal bre …