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Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype.
Polubothu S, Zecchin D, Al-Olabi L, Lionarons DA, Harland M, Horswell S, Thomas AC, Hunt L, Wlodarchak N, Aguilera P, Brand S, Bryant D, Carrera C, Chen H, Elgar G, Harwood CA, Howell M, Larue L, Loughlin S, MacDonald J, Malvehy J, Barberan SM, da Silva VM, Molina M, Morrogh D, Moulding D, Nsengimana J, Pittman A, Puig-Butillé JA, Parmar K, Sebire NJ, Scherer S, Stadnik P, Stanier P, Tell G, Waelchli R, Zarrei M, Puig S, Bataille V, Xing Y, Healy E, Moore GE, Di WL, Newton-Bishop J, Downward J, Kinsler VA. Polubothu S, et al. Among authors: bryant d. Genet Med. 2021 Sep;23(9):1636-1647. doi: 10.1038/s41436-021-01204-y. Epub 2021 Jun 18. Genet Med. 2021. PMID: 34145395 Free PMC article.
Disruption of FOXF2 as a Likely Cause of Absent Uvula in an Egyptian Family.
Seselgyte R, Bryant D, Demetriou C, Ishida M, Peskett E, Moreno N, Morrogh D, Sell D, Lees M, Farrall M, Moore GE, Sommerlad B, Pauws E, Stanier P. Seselgyte R, et al. Among authors: bryant d. J Dent Res. 2019 Jun;98(6):659-665. doi: 10.1177/0022034519837245. Epub 2019 Mar 27. J Dent Res. 2019. PMID: 30917284 Free PMC article.
Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations.
Bryant D, Seda M, Peskett E, Maurer C, Pomeranz G, Ghosh M, Hawkins TA, Cleak J, Datta S, Hariri H, Eckert KM, Jafree DJ, Walsh C, Demetriou C, Ishida M, Alemán-Charlet C, Vestito L, Seselgyte R, McDonald JG, Bitner-Glindzicz M, Hemberger M, Rihel J, Teboul L, Henne WM, Jenkins D, Moore GE, Stanier P. Bryant D, et al. Sci Rep. 2020 Aug 13;10(1):13763. doi: 10.1038/s41598-020-70797-2. Sci Rep. 2020. PMID: 32792680 Free PMC article.
Mosaic BRAF Fusions Are a Recurrent Cause of Congenital Melanocytic Nevi Targetable by MAPK Pathway Inhibition.
Martin SB, Polubothu S, Bruzos AL, Kelly G, Horswell S, Sauvadet A, Bryant D, Zecchin D, Riachi M, Michailidis F, Sadri A, Muwanga-Nanyonjo N, Lopez-Balboa P, Knöpfel N, Bulstrode N, Pittman A, Yeh I, Kinsler VA. Martin SB, et al. Among authors: bryant d. J Invest Dermatol. 2024 Mar;144(3):593-600.e7. doi: 10.1016/j.jid.2023.06.213. Epub 2023 Sep 15. J Invest Dermatol. 2024. PMID: 37716647 Free article.
GNAQ/GNA11 Mosaicism Causes Aberrant Calcium Signaling Susceptible to Targeted Therapeutics.
Zecchin D, Knöpfel N, Gluck AK, Stevenson M, Sauvadet A, Polubothu S, Barberan-Martin S, Michailidis F, Bryant D, Inoue A, Lines KE, Hannan FM, Semple RK, Thakker RV, Kinsler VA. Zecchin D, et al. Among authors: bryant d. J Invest Dermatol. 2024 Apr;144(4):811-819.e4. doi: 10.1016/j.jid.2023.08.028. Epub 2023 Oct 4. J Invest Dermatol. 2024. PMID: 37802293 Free PMC article.
Quantitative MRI Analysis of Patellofemoral Joint Cartilage Health 2-Years Postoperative Anterior Cruciate Ligament Reconstruction and Lateral Extra-Articular Tenodesis.
Nakanishi Y, Hegarty P, Vivacqua T, Firth A, Milner JS, Pritchett S, Willits K, Litchfield R, Bryant D, Getgood AMJ. Nakanishi Y, et al. Among authors: bryant d. Am J Sports Med. 2024 May 25:3635465241248642. doi: 10.1177/03635465241248642. Online ahead of print. Am J Sports Med. 2024. PMID: 38794906
1,223 results