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Acquired cross linker resistance associated with a novel spliced BRCA2 protein variant for molecular phenotyping of BRCA2 disruption

Publikováno v: Meyer, S, Stevens, F, Paredes, R, Schneider, M, Walker, M, Williamson, A, Gonzalez-Sanchez, M, Smetsers, S, Dalal, V, Teng, H-Y, White, D, Taylor, S, Muter, J, Pierce, A, De Leonibus, C, Rockx, D AP, Rooimans, M, Spooncer, E, Stauffer, S, Biswas, K, Godthelp, B, Dorsman, J, Clayton, P, Sharan, S K & Whetton, A 2017, ' Acquired cross linker resistance associated with a novel spliced BRCA2 protein variant for molecular phenotyping of BRCA2 disruption ', CELL DEATH & DISEASE, vol. 8, e2875 . https://doi.org/10.1038/cddis.2017.264
Cell Death & Disease
Cell Death and Disease, 8(6):e2875. Nature Publishing Group
Meyer, S, Stevens, A, Paredes, R, Schneider, M, Walker, M J, Williamson, A J K, Gonzalez-Sanchez, M B, Smetsers, S, Dalal, V, Teng, H Y, White, D J, Taylor, S, Muter, J, Pierce, A, De Leonibus, C, Rockx, D A P, Rooimans, M A, Spooncer, E, Stauffer, S, Biswas, K, Godthelp, B, Dorsman, J, Clayton, P E, Sharan, S K & Whetton, A D 2017, ' Acquired cross-linker resistance associated with a novel spliced BRCA2 protein variant for molecular phenotyping of BRCA2 disruption ', Cell Death and Disease, vol. 8, no. 6, e2875 . https://doi.org/10.1038/cddis.2017.264

BRCA2 encodes a protein with a fundamental role in homologous recombination that is essential for normal development. Carrier status of mutations in BRCA2 is associated with familial breast and ovarian cancer, while bi-allelic BRCA2 mutations can cau

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ed8acd40b187cb9c009c8c5430e08785
https://research.manchester.ac.uk/en/publications/a0f4e878-4723-4543-91a4-0a053e8d8e35

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A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51

Publikováno v: Nature Communications, 6:8829. Nature Publishing Group
Nature communications, 6. Nature Publishing Group
Nature Communications [E], 6. Nature Publishing Group
Nature Communications, 6. Nature Publishing Group
Nature Communications, 6
Nature Communications
Ameziane, N, May, P, Haitjema, A, van der Vrugt, H J, van Rossum-Fikkert, S E, Ristic, D, Williams, G J, Balk, J, Rockx, D, Li, H, Rooimans, M A, Oostra, A B, Velleuer, E, Dietrich, R, Bleijerveld, O B, Altelaar, A F M, Meijers-Heijboer, H, Joenje, H, Glusman, G, Roach, J, Hood, L, Galas, D, Wyman, C, Balling, R, den Dunnen, J, de Winter, J P, Kanaar, R, Gelinas, R & Dorsman, J C 2015, ' A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51 ', Nature Communications, vol. 6, 8829 . https://doi.org/10.1038/ncomms9829

Fanconi anaemia (FA) is a hereditary disease featuring hypersensitivity to DNA cross-linker-induced chromosomal instability in association with developmental abnormalities, bone marrow failure and a strong predisposition to cancer. A total of 17 FA d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68321c81f8e4f8e2ad31085e206478ba
https://doi.org/10.1038/ncomms9829

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