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Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans.
Buonocore F, Kühnen P, Suntharalingham JP, Del Valle I, Digweed M, Stachelscheid H, Khajavi N, Didi M, Brady AF, Blankenstein O, Procter AM, Dimitri P, Wales JKH, Ghirri P, Knöbl D, Strahm B, Erlacher M, Wlodarski MW, Chen W, Kokai GK, Anderson G, Morrogh D, Moulding DA, McKee SA, Niemeyer CM, Grüters A, Achermann JC. Buonocore F, et al. Among authors: moulding da. J Clin Invest. 2017 May 1;127(5):1700-1713. doi: 10.1172/JCI91913. Epub 2017 Mar 27. J Clin Invest. 2017. PMID: 28346228 Free PMC article.
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, da silva vm. 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.
Multi-stage bioengineering of a layered oesophagus with in vitro expanded muscle and epithelial adult progenitors.
Urbani L, Camilli C, Phylactopoulos DE, Crowley C, Natarajan D, Scottoni F, Maghsoudlou P, McCann CJ, Pellegata AF, Urciuolo A, Deguchi K, Khalaf S, Aruta SF, Signorelli MC, Kiely D, Hannon E, Trevisan M, Wong RR, Baradez MO, Moulding D, Virasami A, Gjinovci A, Loukogeorgakis S, Mantero S, Thapar N, Sebire N, Eaton S, Lowdell M, Cossu G, Bonfanti P, De Coppi P. Urbani L, et al. Nat Commun. 2018 Oct 16;9(1):4286. doi: 10.1038/s41467-018-06385-w. Nat Commun. 2018. PMID: 30327457 Free PMC article.
Spatiotemporal dynamics and heterogeneity of renal lymphatics in mammalian development and cystic kidney disease.
Jafree DJ, Moulding D, Kolatsi-Joannou M, Perretta Tejedor N, Price KL, Milmoe NJ, Walsh CL, Correra RM, Winyard PJ, Harris PC, Ruhrberg C, Walker-Samuel S, Riley PR, Woolf AS, Scambler PJ, Long DA. Jafree DJ, et al. Among authors: moulding d. Elife. 2019 Dec 6;8:e48183. doi: 10.7554/eLife.48183. Elife. 2019. PMID: 31808745 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. 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.
61 results