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Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.
Sharma VP, Fenwick AL, Brockop MS, McGowan SJ, Goos JA, Hoogeboom AJ, Brady AF, Jeelani NO, Lynch SA, Mulliken JB, Murray DJ, Phipps JM, Sweeney E, Tomkins SE, Wilson LC, Bennett S, Cornall RJ, Broxholme J, Kanapin A; 500 Whole-Genome Sequences (WGS500) Consortium; Johnson D, Wall SA, van der Spek PJ, Mathijssen IM, Maxson RE, Twigg SR, Wilkie AO. Sharma VP, et al. Among authors: cornall rj. Nat Genet. 2013 Mar;45(3):304-7. doi: 10.1038/ng.2531. Epub 2013 Jan 27. Nat Genet. 2013. PMID: 23354436 Free PMC article.
Prolidase Deficiency Causes Spontaneous T Cell Activation and Lupus-like Autoimmunity.
Hodgson R, Crockford TL, Bhandari A, Kepple JD, Back J, Cawthorne E, Abeler-Dörner L, Laing AG, Clare S, Speak A, Adams DJ, Dougan G, Hayday AC, Deobagkar-Lele M, Cornall RJ, Bull KR. Hodgson R, et al. Among authors: cornall rj. J Immunol. 2023 Mar 1;210(5):547-557. doi: 10.4049/jimmunol.2200212. J Immunol. 2023. PMID: 36637239 Free PMC article.
Tissue-Resident Memory T Cells in Pancreatic Ductal Adenocarcinoma Coexpress PD-1 and TIGIT and Functional Inhibition Is Reversible by Dual Antibody Blockade.
Pearce H, Croft W, Nicol SM, Margielewska-Davies S, Powell R, Cornall R, Davis SJ, Marcon F, Pugh MR, Fennell É, Powell-Brett S, Mahon BS, Brown RM, Middleton G, Roberts K, Moss P. Pearce H, et al. Cancer Immunol Res. 2023 Apr 3;11(4):435-449. doi: 10.1158/2326-6066.CIR-22-0121. Cancer Immunol Res. 2023. PMID: 36689623 Free PMC article.
DNA repair is limiting for haematopoietic stem cells during ageing.
Nijnik A, Woodbine L, Marchetti C, Dawson S, Lambe T, Liu C, Rodrigues NP, Crockford TL, Cabuy E, Vindigni A, Enver T, Bell JI, Slijepcevic P, Goodnow CC, Jeggo PA, Cornall RJ. Nijnik A, et al. Among authors: cornall rj. Nature. 2007 Jun 7;447(7145):686-90. doi: 10.1038/nature05875. Nature. 2007. PMID: 17554302
Unlocking the bottleneck in forward genetics using whole-genome sequencing and identity by descent to isolate causative mutations.
Bull KR, Rimmer AJ, Siggs OM, Miosge LA, Roots CM, Enders A, Bertram EM, Crockford TL, Whittle B, Potter PK, Simon MM, Mallon AM, Brown SD, Beutler B, Goodnow CC, Lunter G, Cornall RJ. Bull KR, et al. Among authors: cornall rj. PLoS Genet. 2013;9(1):e1003219. doi: 10.1371/journal.pgen.1003219. Epub 2013 Jan 31. PLoS Genet. 2013. PMID: 23382690 Free PMC article.
Antigen-specific T cell responses to BK polyomavirus antigens identify functional anti-viral immunity and may help to guide immunosuppression following renal transplantation.
Chakera A, Bennett S, Lawrence S, Morteau O, Mason PD, O'Callaghan CA, Cornall RJ. Chakera A, et al. Among authors: cornall rj. Clin Exp Immunol. 2011 Sep;165(3):401-9. doi: 10.1111/j.1365-2249.2011.04429.x. Epub 2011 Jun 14. Clin Exp Immunol. 2011. PMID: 21671906 Free PMC article.
97 results