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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: sebire nj. 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.
Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development.
Kinsler VA, Abu-Amero S, Budd P, Jackson IJ, Ring SM, Northstone K, Atherton DJ, Bulstrode NW, Stanier P, Hennekam RC, Sebire NJ, Moore GE, Healy E. Kinsler VA, et al. Among authors: sebire nj. J Invest Dermatol. 2012 Aug;132(8):2026-32. doi: 10.1038/jid.2012.95. Epub 2012 May 10. J Invest Dermatol. 2012. PMID: 22572819 Free PMC article.
Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS.
Kinsler VA, Thomas AC, Ishida M, Bulstrode NW, Loughlin S, Hing S, Chalker J, McKenzie K, Abu-Amero S, Slater O, Chanudet E, Palmer R, Morrogh D, Stanier P, Healy E, Sebire NJ, Moore GE. Kinsler VA, et al. Among authors: sebire nj. J Invest Dermatol. 2013 Sep;133(9):2229-36. doi: 10.1038/jid.2013.70. Epub 2013 Feb 7. J Invest Dermatol. 2013. PMID: 23392294 Free PMC article.
Growth and hormone profiling in children with congenital melanocytic naevi.
Waelchli R, Williams J, Cole T, Dattani M, Hindmarsh P, Kennedy H, Martinez A, Khan S, Semple RK, White A, Sebire N, Healy E, Moore G, Kinsler VA. Waelchli R, et al. Br J Dermatol. 2015 Dec;173(6):1471-8. doi: 10.1111/bjd.14091. Epub 2015 Nov 17. Br J Dermatol. 2015. PMID: 26286459 Free PMC article.
Imaging Invasion: Micro-CT imaging of adamantinomatous craniopharyngioma highlights cell type specific spatial relationships of tissue invasion.
Apps JR, Hutchinson JC, Arthurs OJ, Virasami A, Joshi A, Zeller-Plumhoff B, Moulding D, Jacques TS, Sebire NJ, Martinez-Barbera JP. Apps JR, et al. Among authors: sebire nj. Acta Neuropathol Commun. 2016 Jun 3;4(1):57. doi: 10.1186/s40478-016-0321-8. Acta Neuropathol Commun. 2016. PMID: 27260197 Free PMC article.
Melanoma in congenital melanocytic naevi.
Kinsler VA, O'Hare P, Bulstrode N, Calonje JE, Chong WK, Hargrave D, Jacques T, Lomas D, Sebire NJ, Slater O. Kinsler VA, et al. Among authors: sebire nj. Br J Dermatol. 2017 May;176(5):1131-1143. doi: 10.1111/bjd.15301. Epub 2017 Apr 4. Br J Dermatol. 2017. PMID: 28078671 Free PMC article. Review.
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.
Al-Olabi L, Polubothu S, Dowsett K, Andrews KA, Stadnik P, Joseph AP, Knox R, Pittman A, Clark G, Baird W, Bulstrode N, Glover M, Gordon K, Hargrave D, Huson SM, Jacques TS, James G, Kondolf H, Kangesu L, Keppler-Noreuil KM, Khan A, Lindhurst MJ, Lipson M, Mansour S, O'Hara J, Mahon C, Mosica A, Moss C, Murthy A, Ong J, Parker VE, Rivière JB, Sapp JC, Sebire NJ, Shah R, Sivakumar B, Thomas A, Virasami A, Waelchli R, Zeng Z, Biesecker LG, Barnacle A, Topf M, Semple RK, Patton EE, Kinsler VA. Al-Olabi L, et al. Among authors: sebire nj. J Clin Invest. 2018 Apr 2;128(4):1496-1508. doi: 10.1172/JCI98589. Epub 2018 Mar 12. J Clin Invest. 2018. PMID: 29461977 Free PMC article.
739 results