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Page 1
Functional Analysis Identifies Damaging CHEK2 Missense Variants Associated with Increased Cancer Risk.
Boonen RACM, Wiegant WW, Celosse N, Vroling B, Heijl S, Kote-Jarai Z, Mijuskovic M, Cristea S, Solleveld-Westerink N, van Wezel T, Beerenwinkel N, Eeles R, Devilee P, Vreeswijk MPG, Marra G, van Attikum H. Boonen RACM, et al. Among authors: vroling b. Cancer Res. 2022 Feb 15;82(4):615-631. doi: 10.1158/0008-5472.CAN-21-1845. Cancer Res. 2022. PMID: 34903604 Free PMC article.
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L, Carvalho S, Allen J, Parsons MT, Fortuno C, González-Neira A, Heijl SM, Adank MA, Ahearn TU, Andrulis IL, Auvinen P, Becher H, Beckmann MW, Behrens S, Bermisheva M, Bogdanova NV, Bojesen SE, Bolla MK, Bremer M, Briceno I, Camp NJ, Campbell A, Castelao JE, Chang-Claude J, Chanock SJ, Chenevix-Trench G; NBCS Collaborators; Collée JM, Czene K, Dennis J, Dörk T, Eriksson M, Evans DG, Fasching PA, Figueroa J, Flyger H, Gabrielson M, Gago-Dominguez M, García-Closas M, Giles GG, Glendon G, Guénel P, Gündert M, Hadjisavvas A, Hahnen E, Hall P, Hamann U, Harkness EF, Hartman M, Hogervorst FBL, Hollestelle A, Hoppe R, Howell A; kConFab Investigators; SGBCC Investigators; Jakubowska A, Jung A, Khusnutdinova E, Kim SW, Ko YD, Kristensen VN, Lakeman IMM, Li J, Lindblom A, Loizidou MA, Lophatananon A, Lubiński J, Luccarini C, Madsen MJ, Mannermaa A, Manoochehri M, Margolin S, Mavroudis D, Milne RL, Mohd Taib NA, Muir K, Nevanlinna H, Newman WG, Oosterwijk JC, Park SK, Peterlongo P, Radice P, Saloustros E, Sawyer EJ, Schmutzler RK, Shah M, Sim X, Southey MC, Surowy H, Suvanto M, Tomlinson I, Torres D, Truong T, van Asperen CJ, Waltes R, Wang Q, Yang XR, Pharoah PDP, Schmidt MK, Benite… See abstract for full author list ➔ Dorling L, et al. Among authors: vroling b. Genome Med. 2022 May 18;14(1):51. doi: 10.1186/s13073-022-01052-8. Genome Med. 2022. PMID: 35585550 Free PMC article.
NucleaRDB: information system for nuclear receptors.
Vroling B, Thorne D, McDermott P, Joosten HJ, Attwood TK, Pettifer S, Vriend G. Vroling B, et al. Nucleic Acids Res. 2012 Jan;40(Database issue):D377-80. doi: 10.1093/nar/gkr960. Epub 2011 Nov 7. Nucleic Acids Res. 2012. PMID: 22064856 Free PMC article.
Systematic generation of in vivo G protein-coupled receptor mutants in the rat.
van Boxtel R, Vroling B, Toonen P, Nijman IJ, van Roekel H, Verheul M, Baakman C, Guryev V, Vriend G, Cuppen E. van Boxtel R, et al. Among authors: vroling b. Pharmacogenomics J. 2011 Oct;11(5):326-36. doi: 10.1038/tpj.2010.44. Epub 2010 Jun 8. Pharmacogenomics J. 2011. PMID: 20531371 Free PMC article.
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains.
Harris E, Burki U, Marini-Bettolo C, Neri M, Scotton C, Hudson J, Bertoli M, Evangelista T, Vroling B, Polvikoski T, Roberts M, Töpf A, Bushby K, McArthur D, Lochmüller H, Ferlini A, Straub V, Barresi R. Harris E, et al. Among authors: vroling b. Neuromuscul Disord. 2017 Sep;27(9):861-872. doi: 10.1016/j.nmd.2017.05.002. Epub 2017 May 4. Neuromuscul Disord. 2017. PMID: 28624464
Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness.
Owen D, Töpf A, Preethish-Kumar V, Lorenzoni PJ, Vroling B, Scola RH, Dias-Tosta E, Geraldo A, Polavarapu K, Nashi S, Cox D, Evangelista T, Dawson J, Thompson R, Senderek J, Laurie S, Beltran S, Gut M, Gut I, Nalini A, Lochmüller H. Owen D, et al. Among authors: vroling b. Am J Med Genet A. 2018 Jul;176(7):1594-1601. doi: 10.1002/ajmg.a.38707. Epub 2018 Apr 28. Am J Med Genet A. 2018. PMID: 29704306
Homology modelling and spectroscopy, a never-ending love story.
Venselaar H, Joosten RP, Vroling B, Baakman CA, Hekkelman ML, Krieger E, Vriend G. Venselaar H, et al. Among authors: vroling b. Eur Biophys J. 2010 Mar;39(4):551-63. doi: 10.1007/s00249-009-0531-0. Epub 2009 Aug 29. Eur Biophys J. 2010. PMID: 19718498 Free PMC article. Review.
GPCRDB: information system for G protein-coupled receptors.
Vroling B, Sanders M, Baakman C, Borrmann A, Verhoeven S, Klomp J, Oliveira L, de Vlieg J, Vriend G. Vroling B, et al. Nucleic Acids Res. 2011 Jan;39(Database issue):D309-19. doi: 10.1093/nar/gkq1009. Epub 2010 Nov 2. Nucleic Acids Res. 2011. PMID: 21045054 Free PMC article.
23 results