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Page 1
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: al olabi l. 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.
Extending the spectrum of AKT1 mosaicism: not just the Proteus syndrome.
Polubothu S, Al-Olabi L, Wilson L, Chong WK, Kinsler VA. Polubothu S, et al. Among authors: al olabi l. Br J Dermatol. 2016 Sep;175(3):612-4. doi: 10.1111/bjd.14478. Epub 2016 Jun 23. Br J Dermatol. 2016. PMID: 26872686 Free PMC article. No abstract available.
Does the gene matter? Genotype-phenotype and genotype-outcome associations in congenital melanocytic naevi.
Polubothu S, McGuire N, Al-Olabi L, Baird W, Bulstrode N, Chalker J, Josifova D, Lomas D, O'Hara J, Ong J, Rampling D, Stadnik P, Thomas A, Wedgeworth E, Sebire NJ, Kinsler VA. Polubothu S, et al. Among authors: al olabi l. Br J Dermatol. 2020 Feb;182(2):434-443. doi: 10.1111/bjd.18106. Epub 2019 Aug 9. Br J Dermatol. 2020. PMID: 31111470 Free PMC article.
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. 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.
GNA11 Mutation as a Cause of Sturge-Weber Syndrome: Expansion of the Phenotypic Spectrum of Gα/11 Mosaicism and the Associated Clinical Diagnoses.
Polubothu S, Al-Olabi L, Carmen Del Boente M, Chacko A, Eleftheriou G, Glover M, Jiménez-Gallo D, Jones EA, Lomas D, Fölster-Holst R, Syed S, Tasani M, Thomas A, Tisdall M, Torrelo A, Aylett S, Kinsler VA. Polubothu S, et al. Among authors: al olabi l. J Invest Dermatol. 2020 May;140(5):1110-1113. doi: 10.1016/j.jid.2019.10.019. Epub 2019 Dec 12. J Invest Dermatol. 2020. PMID: 31838126 Free PMC article. No abstract available.
Acute Inhibition of MEK Suppresses Congenital Melanocytic Nevus Syndrome in a Murine Model Driven by Activated NRAS and Wnt Signaling.
Pawlikowski JS, Brock C, Chen SC, Al-Olabi L, Nixon C, McGregor F, Paine S, Chanudet E, Lambie W, Holmes WM, Mullin JM, Richmond A, Wu H, Blyth K, King A, Kinsler VA, Adams PD. Pawlikowski JS, et al. Among authors: al olabi l. J Invest Dermatol. 2015 Aug;135(8):2093-2101. doi: 10.1038/jid.2015.114. Epub 2015 Mar 27. J Invest Dermatol. 2015. PMID: 25815427 Free PMC article.
Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis.
Thomas AC, Zeng Z, Rivière JB, O'Shaughnessy R, Al-Olabi L, St-Onge J, Atherton DJ, Aubert H, Bagazgoitia L, Barbarot S, Bourrat E, Chiaverini C, Chong WK, Duffourd Y, Glover M, Groesser L, Hadj-Rabia S, Hamm H, Happle R, Mushtaq I, Lacour JP, Waelchli R, Wobser M, Vabres P, Patton EE, Kinsler VA. Thomas AC, et al. Among authors: al olabi l. J Invest Dermatol. 2016 Apr;136(4):770-778. doi: 10.1016/j.jid.2015.11.027. Epub 2016 Jan 14. J Invest Dermatol. 2016. PMID: 26778290 Free PMC article.
The role and interaction of imprinted genes in human fetal growth.
Moore GE, Ishida M, Demetriou C, Al-Olabi L, Leon LJ, Thomas AC, Abu-Amero S, Frost JM, Stafford JL, Chaoqun Y, Duncan AJ, Baigel R, Brimioulle M, Iglesias-Platas I, Apostolidou S, Aggarwal R, Whittaker JC, Syngelaki A, Nicolaides KH, Regan L, Monk D, Stanier P. Moore GE, et al. Among authors: al olabi l. Philos Trans R Soc Lond B Biol Sci. 2015 Mar 5;370(1663):20140074. doi: 10.1098/rstb.2014.0074. Philos Trans R Soc Lond B Biol Sci. 2015. PMID: 25602077 Free PMC article. Review.
12 results