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The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.
Levran O, Attwooll C, Henry RT, Milton KL, Neveling K, Rio P, Batish SD, Kalb R, Velleuer E, Barral S, Ott J, Petrini J, Schindler D, Hanenberg H, Auerbach AD. Levran O, et al. Among authors: velleuer e. Nat Genet. 2005 Sep;37(9):931-3. doi: 10.1038/ng1624. Epub 2005 Aug 21. Nat Genet. 2005. PMID: 16116424
A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51.
Ameziane N, May P, Haitjema A, van de Vrugt HJ, van Rossum-Fikkert SE, Ristic D, Williams GJ, Balk J, Rockx D, Li H, Rooimans MA, Oostra AB, Velleuer E, Dietrich R, Bleijerveld OB, Maarten Altelaar AF, Meijers-Heijboer H, Joenje H, Glusman G, Roach J, Hood L, Galas D, Wyman C, Balling R, den Dunnen J, de Winter JP, Kanaar R, Gelinas R, Dorsman JC. Ameziane N, et al. Among authors: velleuer e. Nat Commun. 2015 Dec 18;6:8829. doi: 10.1038/ncomms9829. Nat Commun. 2015. PMID: 26681308 Free PMC article.
Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer.
Webster ALH, Sanders MA, Patel K, Dietrich R, Noonan RJ, Lach FP, White RR, Goldfarb A, Hadi K, Edwards MM, Donovan FX, Hoogenboezem RM, Jung M, Sridhar S, Wiley TF, Fedrigo O, Tian H, Rosiene J, Heineman T, Kennedy JA, Bean L, Rosti RO, Tryon R, Gonzalez AM, Rosenberg A, Luo JD, Carroll TS, Shroff S, Beaumont M, Velleuer E, Rastatter JC, Wells SI, Surrallés J, Bagby G, MacMillan ML, Wagner JE, Cancio M, Boulad F, Scognamiglio T, Vaughan R, Beaumont KG, Koren A, Imielinski M, Chandrasekharappa SC, Auerbach AD, Singh B, Kutler DI, Campbell PJ, Smogorzewska A. Webster ALH, et al. Among authors: velleuer e. Nature. 2022 Dec;612(7940):495-502. doi: 10.1038/s41586-022-05253-4. Epub 2022 Nov 30. Nature. 2022. PMID: 36450981 Free PMC article.
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. Among authors: velleuer e. 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
Noninvasive molecular screening for oral precancer in Fanconi anemia patients.
Smetsers SE, Velleuer E, Dietrich R, Wu T, Brink A, Buijze M, Deeg DJ, Soulier J, Leemans CR, Braakhuis BJ, Brakenhoff RH. Smetsers SE, et al. Among authors: velleuer e. Cancer Prev Res (Phila). 2015 Nov;8(11):1102-11. doi: 10.1158/1940-6207.CAPR-15-0220. Epub 2015 Aug 14. Cancer Prev Res (Phila). 2015. PMID: 26276748
Detection of cytogenetic changes and chromosomal aneuploidy with fluorescent in situ hybridization in cytological specimens of oral cancers in Fanconi anemia-Proof of concept.
Silva de Araujo BE, Velleuer E, Dietrich R, Pomjanski N, de Santana Almeida Araujo IK, Schlensog M, Wells SI, Dorsman JC, Schramm M. Silva de Araujo BE, et al. Among authors: velleuer e. Clin Exp Dent Res. 2022 Feb;8(1):108-116. doi: 10.1002/cre2.519. Epub 2021 Dec 2. Clin Exp Dent Res. 2022. PMID: 34854575 Free PMC article.
28 results