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Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.
Southgate L, Machado RD, Snape KM, Primeau M, Dafou D, Ruddy DM, Branney PA, Fisher M, Lee GJ, Simpson MA, He Y, Bradshaw TY, Blaumeiser B, Winship WS, Reardon W, Maher ER, FitzPatrick DR, Wuyts W, Zenker M, Lamarche-Vane N, Trembath RC. Southgate L, et al. Among authors: bradshaw ty. Am J Hum Genet. 2011 May 13;88(5):574-85. doi: 10.1016/j.ajhg.2011.04.013. Am J Hum Genet. 2011. PMID: 21565291 Free PMC article.
Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension.
Nasim MT, Ogo T, Ahmed M, Randall R, Chowdhury HM, Snape KM, Bradshaw TY, Southgate L, Lee GJ, Jackson I, Lord GM, Gibbs JS, Wilkins MR, Ohta-Ogo K, Nakamura K, Girerd B, Coulet F, Soubrier F, Humbert M, Morrell NW, Trembath RC, Machado RD. Nasim MT, et al. Among authors: bradshaw ty. Hum Mutat. 2011 Dec;32(12):1385-9. doi: 10.1002/humu.21605. Epub 2011 Oct 11. Hum Mutat. 2011. PMID: 21898662
Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin.
Duncan EJ, Larivière R, Bradshaw TY, Longo F, Sgarioto N, Hayes MJ, Romano LEL, Nethisinghe S, Giunti P, Bruntraeger MB, Durham HD, Brais B, Maltecca F, Gentil BJ, Chapple JP. Duncan EJ, et al. Among authors: bradshaw ty. Hum Mol Genet. 2017 Aug 15;26(16):3130-3143. doi: 10.1093/hmg/ddx197. Hum Mol Genet. 2017. PMID: 28535259 Free PMC article.
Oncometabolite induced primary cilia loss in pheochromocytoma.
O'Toole SM, Watson DS, Novoselova TV, Romano LEL, King PJ, Bradshaw TY, Thompson CL, Knight MM, Sharp TV, Barnes MR, Srirangalingam U, Drake WM, Chapple JP. O'Toole SM, et al. Among authors: bradshaw ty. Endocr Relat Cancer. 2019 Jan 1;26(1):165-180. doi: 10.1530/ERC-18-0134. Endocr Relat Cancer. 2019. PMID: 30345732 Free PMC article.
Fulminant corticobasal degeneration: a distinct variant with predominant neuronal tau aggregates.
Ling H, Gelpi E, Davey K, Jaunmuktane Z, Mok KY, Jabbari E, Simone R, R'Bibo L, Brandner S, Ellis MJ, Attems J, Mann D, Halliday GM, Al-Sarraj S, Hedreen J, Ironside JW, Kovacs GG, Kovari E, Love S, Vonsattel JPG, Allinson KSJ, Hansen D, Bradshaw T, Setó-Salvia N, Wray S, de Silva R, Morris HR, Warner TT, Hardy J, Holton JL, Revesz T. Ling H, et al. Acta Neuropathol. 2020 Apr;139(4):717-734. doi: 10.1007/s00401-019-02119-4. Epub 2020 Jan 16. Acta Neuropathol. 2020. PMID: 31950334 Free PMC article.