Multiplexed assay of variant effect reveals residues of functional importance in the BRCA1 coiled-coil and serine cluster domains

Autor: Gregory Nagy, Mariame Diabate, Tapahsama Banerjee, Aleksandra I. Adamovich, Nahum Smith, Hyeongseon Jeon, Shruti Dhar, Wenfang Liu, Katherine Burgess, Dongjun Chung, Lea M. Starita, Jeffrey D. Parvin

Publikováno v: PLoS ONE, Vol 18, Iss 11 (2023)

Externí odkaz: https://doaj.org/article/d91b14e5d5a1447cb257877be7e81276

Functional analysis of BARD1 missense variants in homology-directed repair and damage sensitivity.

Autor: Aleksandra I Adamovich, Tapahsama Banerjee, Margaret Wingo, Kathryn Duncan, Jie Ning, Fernanda Martins Rodrigues, Kuan-Lin Huang, Cindy Lee, Feng Chen, Li Ding, Jeffrey D Parvin

Publikováno v: PLoS Genetics, Vol 15, Iss 3, p e1008049 (2019)

The BARD1 protein, which heterodimerizes with BRCA1, is encoded by a known breast cancer susceptibility gene. While several BARD1 variants have been identified as pathogenic, many more missense variants exist that do not occur frequently enough to as

Externí odkaz: https://doaj.org/article/5a71d84b94f7450ca925ff8d64514220

The 2022 Plasma Roadmap: low temperature plasma science and technology

Autor: I Adamovich, S Agarwal, E Ahedo, L L Alves, S Baalrud, N Babaeva, A Bogaerts, A Bourdon, P J Bruggeman, C Canal, E H Choi, S Coulombe, Z Donkó, D B Graves, S Hamaguchi, D Hegemann, M Hori, H-H Kim, G M W Kroesen, M J Kushner, A Laricchiuta, X Li, T E Magin, S Mededovic Thagard, V Miller, A B Murphy, G S Oehrlein, N Puac, R M Sankaran, S Samukawa, M Shiratani, M Šimek, N Tarasenko, K Terashima, E Thomas Jr, J Trieschmann, S Tsikata, M M Turner, I J van der Walt, M C M van de Sanden, T von Woedtke

Publikováno v: Journal of Physics D: Applied Physics, 55(37):373001. Institute of Physics
Journal of Physics D: Applied Physics, 55, 373001
Journal of physics: D: applied physics
e-Archivo. Repositorio Institucional de la Universidad Carlos III de Madrid
instname
Journal of Physics D: Applied Physics

Documento escrito por un elevado número de autores/as, solo se referencia el/la que aparece en primer lugar y los/as autores/as pertenecientes a la UC3M. The 2022 Roadmap is the next update in the series of Plasma Roadmaps published by Journal of Ph

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dfd5070a5f1f5999500e993944ce9a7
https://hdl.handle.net/2117/376648

The functional impact of BRCA1 BRCT domain variants using multiplexed DNA double-strand break repair assays

Autor: Aleksandra I. Adamovich, Mariame Diabate, Tapahsama Banerjee, Gregory Nagy, Nahum Smith, Kathryn Duncan, Erika Mendoza Mendoza, Gisselle Prida, Michael A. Freitas, Lea M. Starita, Jeffrey D. Parvin

Publikováno v: Am J Hum Genet

Pathogenic variants in BRCA1 are associated with a greatly increased risk of hereditary breast and ovarian cancer (HBOC). With the increased availability and affordability of genetic testing, many individuals have been identified with BRCA1 variants

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bc3f59f9524c541d9bf6b547e6cf703
https://europepmc.org/articles/PMC9069074/

Characterizing BRCA1 Variants Using Multiplex Functional Assays

Autor: Jeffrey D. Parvin, Aleksandra I. Adamovich

Publikováno v: Archives of Applied Medicine. 1

Individuals with deleterious germline mutations in the tumor suppressor gene BRCA1 are at an increased risk for breast and ovarian cancers that are associated with poor disease outcomes. While cancer screenings have helped identify BRCA1 variants in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2c18afb428d0b275d1b1920710431134
https://doi.org/10.18103/aoam.v1i1.25