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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: moulding 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.
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: moulding d. 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.
Activation of podocyte Notch mediates early Wt1 glomerulopathy.
Asfahani RI, Tahoun MM, Miller-Hodges EV, Bellerby J, Virasami AK, Sampson RD, Moulding D, Sebire NJ, Hohenstein P, Scambler PJ, Waters AM. Asfahani RI, et al. Among authors: moulding d. Kidney Int. 2018 Apr;93(4):903-920. doi: 10.1016/j.kint.2017.11.014. Epub 2018 Feb 2. Kidney Int. 2018. PMID: 29398135 Free PMC article.
Generation and Clinical Application of Gene-Modified Autologous Epidermal Sheets in Netherton Syndrome: Lessons Learned from a Phase 1 Trial.
Di WL, Lwin SM, Petrova A, Bernadis C, Syed F, Farzaneh F, Moulding D, Martinez AE, Sebire NJ, Rampling D, Virasami A, Zamiri M, Wang W, Hara H, Kadiyirire T, Abdul-Wahab A, Martinez-Queipo M, Harper JI, McGrath JA, Thrasher AJ, Mellerio JE, Qasim W. Di WL, et al. Among authors: moulding d. Hum Gene Ther. 2019 Sep;30(9):1067-1078. doi: 10.1089/hum.2019.049. Epub 2019 Aug 5. Hum Gene Ther. 2019. PMID: 31288584 Clinical Trial.
The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention.
Bryant D, Pauzuolyte V, Ingham NJ, Patel A, Pagarkar W, Anderson LA, Smith KE, Moulding DA, Leong YC, Jafree DJ, Long DA, Al-Yassin A, Steel KP, Jagger DJ, Forge A, Berger W, Sowden JC, Bitner-Glindzicz M. Bryant D, et al. Among authors: moulding da. JCI Insight. 2022 Feb 8;7(3):e148586. doi: 10.1172/jci.insight.148586. JCI Insight. 2022. PMID: 35132964 Free PMC article.
Identifying cellular signalling molecules in developmental disorders of the brain: Evidence from focal cortical dysplasia and tuberous sclerosis.
Li YF, Scerif F, Picker SR, Stone TJ, Pickles JC, Moulding DA, Avery A, Virasami A, Fairchild AR, Tisdall M, Harkness W, Cross JH, Hargrave D, Guillemot F, Paine SM, Yasin SA, Jacques TS. Li YF, et al. Among authors: moulding da. Neuropathol Appl Neurobiol. 2021 Oct;47(6):781-795. doi: 10.1111/nan.12715. Epub 2021 May 9. Neuropathol Appl Neurobiol. 2021. PMID: 33797808
Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1.
Record J, Malinova D, Zenner HL, Plagnol V, Nowak K, Syed F, Bouma G, Curtis J, Gilmour K, Cale C, Hackett S, Charras G, Moulding D, Nejentsev S, Thrasher AJ, Burns SO. Record J, et al. Among authors: moulding d. Blood. 2015 Sep 24;126(13):1527-35. doi: 10.1182/blood-2014-12-611012. Epub 2015 Jul 29. Blood. 2015. PMID: 26224645 Free PMC article.
65 results