Publications

BRAF^V600E-mutated serrated colorectal neoplasia drives transcriptional activation of cholesterol metabolism.
Rzasa P, Whelan S, Farahmand P, Cai H, Guterman I, Palacios-Gallego R, Undru SS, Sandford L, Green C, Andreadi C, Mintseva M, Parrott E, Jin H, Hey F, Giblett S, Sylvius NB, Allcock NS, Straatman-Iwanowska A, Feuda R, Tufarelli C, Brown K, Pritchard C, Rufini A.Commun Biol. 2023 Sep 21;6(1):962. doi: 10.1038/s42003-023-05331-x.PMID: 37735514

No evidence of increased mutations in the germline of a group of British nuclear test veterans.
Moorhouse AJ, Scholze M, Sylvius N, Gillham C, Rake C, Peto J, Anderson R, Dubrova YE.Sci Rep. 2022 Jul 5;12(1):10830. doi: 10.1038/s41598-022-14999-w.PMID: 35790751

Identifying Biomarkers from Transcriptomic Signatures in Renal Allograft Biopsies Using Deceased and Living Donors
Yang B, Sylvius N, Luo J, Yang C, Da Z, Crotty C, Nicholson ML. 2021 Front Immunol. 2021 Jul 1;12:657860. doi: 10.3389/fimmu.2021.657860. eCollection. PMID: 34276651

Interleukin-18, IL-18 binding protein and IL-18 receptor expression in asthma: a hypothesis showing IL-18 promotes epithelial cell differentiation
Kaur D, Chachi L, Gomez E, Sylvius N, Brightling CE. 2021 Clin Transl Immunology. 2021 Jun 26;10(6):e1301. doi: 10.1002/cti2.1301. eCollection 2021. PMID: 34194747 

Discordant phenotypes in twins with infantile nystagmus
Aamir A, Kuht HJ, McLean RJ, Maconachie GDE, Sheth V, Dawar B, Purohit R, Sylvius N, Hisaund M, Zubcov-Iwantscheff A, Proudlock FA, Gottlob I, Thomas MG. Sci Rep. 2021 Feb 2;11(1):2826. doi: 10.1038/s41598-021-82368-0. PMID: 33531592 Free PMC article 

ST2 expression and release by the bronchial epithelium is downregulated in asthma
Kaur D, Chachi L, Gomez E, Sylvius N, Singh SR, Ramsheh MY, Saunders R, Brightling CE. Allergy. 2020 Dec;75(12):3184-3194. doi: 10.1111/all.14436. Epub 2020 Jul 27. PMID: 32516479 

SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization
Kuht HJ, Han J, Maconachie GDE, Park SE, Lee ST, McLean R, Sheth V, Hisaund M, Dawar B, Sylvius N, Mahmood U, Proudlock FA, Gottlob I, Lim HT, Thomas MG. Hum Mol Genet. 2020 Nov 4;29(18):2989-3002. doi: 10.1093/hmg/ddaa166.PMID: 32744312 Free PMC article

The long-term effects of exposure to ionising radiation on gene expression in mice
Jafer A, Sylvius N, Adewoye AB, Dubrova YE. Mutat Res. 2020 May-Dec;821:111723. doi: 10.1016/j.mrfmmm.2020.111723. Epub 2020 Oct 11. PMID: 33096319 

Genome-Wide Adductomics Analysis Reveals Heterogeneity in the Induction and Loss of Cyclobutane Thymine Dimers across Both the Nuclear and Mitochondrial Genomes
Alhegaili AS, Ji Y, Sylvius N, Blades MJ, Karbaschi M, Tempest HG, Jones GDD, Cooke MS. Int J Mol Sci. 2019 Oct 15;20(20):5112. doi: 10.3390/ijms20205112. PMID: 31618917 Free PMC article

SMYD2 promoter DNA methylation is associated with abdominal aortic aneurysm (AAA) and SMYD2 expression in vascular smooth muscle cells.
Toghill BJ, Saratzis A, Freeman PJ, Sylvius N; UKAGS collaborators, Bown MJ.Clin Epigenetics. 2018 Mar 2;10:29. doi: 10.1186/s13148-018-0460-9. eCollection 2018.PMID: 29507647 Free PMC article

Mitigating the effects of reference sequence bias in single-multiplex massively parallel sequencing of the mitochondrial DNA control region
Huszar TI, Wetton JH, Jobling MA. Forensic Sci Int Genet. 2019 Jan 16;40:9-17

A phylogenetic framework facilitates Y-STR variant discovery and classification via massively parallel sequencing
Huszar TI, Jobling MA, Wetton JH. Forensic Sci Int Genet. 2018 Jul;35:97-106

SMYD2 promoter DNA methylation is associated with abdominal aortic aneurysm (AAA) and SMYD2 expression in vascular smooth muscle cells
Toghill BJ, Saratzis A, Freeman PJ, Sylvius N, UKAGS collaborators, Bown MJ. Clinical Epigenetics, 2018 Mar 2;10:29

Adaptive and Behavioral Changes in Kynurenine 3-Monooxygenase Knockout Mice: Relevance to Psychotic Disorders
Erhardt S, Pocivavsek A, Repici M, Liu XC, Imbeault S, Maddison DC, Thomas MAR, Smalley JL, Larsson MK, Muchowski PJ, Giorgini F, Schwarcz R. Biol Psychiatry. 2017 Nov 15;82(10):756-765

Impaired P2X1 Receptor-Mediated Adhesion in Eosinophils from Asthmatic Patients
Wright A, Mahaut-Smith M, Symon F, Sylvius N, Ran S, Bafadhel M, Muessel M, Bradding P, Wardlaw A, Vial C. J Immunol. 2016 May 9. pii: 1501585. [Epub ahead of print]

Microarray-based Gene Expression Profiling of Abdominal Aortic Aneurysm
Butt HZ, Sylvius N, Salem MK, Wild JB, Dattani N, Sayers RD, Bown MJ. Eur J Vasc Endovasc Surg. 2016 May 2. pii: S1078-5884(16)00173-8. doi: 10.1016/j.ejvs.2016.03.016. [Epub ahead of print]

Variation in Inflammatory Response during Pneumococcal Infection Is Influenced by Host-Pathogen Interactions but Associated with Animal Survival
Jonczyk MS, Escudero L, Sylvius N, Norman M, Henriques-Normark B, Andrew PW. Infect Immun. 2016 Mar 24;84(4):894-905. doi: 10.1128/IAI.01057-15. Print 2016 Apr.

Identification of microRNAs associated with abdominal aortic aneurysms and peripheral arterial disease
Stather PW, Sylvius N, Sidloff DA, Dattani N, Verissimo A, Wild JB, Butt HZ, Choke E, Sayers RD, Bown MJ. Br J Surg. 2015 Jun;102(7):755-66. doi: 10.1002/bjs.9802. Epub 2015 Apr 2

Genetic factors regulating lung vasculature and immune cell functions associate with resistance to pneumococcal infection
Jonczyk MS, Simon M, Kumar S, Fernandes VE, Sylvius N, Mallon AM, Denny P, Andrew PW. PLoS One. 2014 Mar 3;9(3):e89831. doi: 10.1371/journal.pone.0089831. eCollection 2014

Differential microRNA expression profiles in peripheral arterial disease
Stather PW, Sylvius N, Wild JB, Choke E, Sayers RD, Bown MJ. Circ Cardiovasc Genet. 2013 Oct;6(5):490-7. (With the department of Cardiovascular Sciences, University of Leicester)

MicroRNAs associated with the pathways involved in the pathogenesis of abdominal aortic aneurysms
P.W. Stathera, J.B. Wild, N. Sylvius, E. Choke, R.D. Sayers, M.J. Bown. Artery Research, Volume 7, Issue 1, March 2013, Pages 28–35. (With the department of Cardiovascular Sciences, University of Leicester)

Low density lipoprotein receptor related protein 1 and abdominal aortic aneurysms
Wild JB, Stather PW, Sylvius N, Choke E, Sayers RD, Bown MJ. Eur J Vasc Endovasc Surg. 2012 Aug;44(2):127-32. (With the department of Cardiovascular Sciences, University of Leicester)

A mechanistic basis for amplification differences between samples and between genome regions
Veal CD, Freeman PJ, Jacobs K, Lancaster O, Jamain S, Leboyer M, Albanes D, Vaghela RR, Gut I, Chanock SJ, Brookes AJ. BMC Genomics. 2012 Sep 5;13:455.

Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1
Bown MJ, Jones GT, Harrison SC, Wright BJ, Bumpstead S, Baas AF, Gretarsdottir S, Badger SA, et al. Am J Hum Genet. 2011 Nov 11;89(5):619-27. (With the department of Cardiovascular Sciences, University of Leicester)

MicroRNA expression profiling in patients with lamin A/C associated muscular dystrophy
Sylvius N, Bonne G, Straatman k, Reddy T, Gant TW, Shackleton S. FASEB J. 2011 Nov;25(11):3966-78. (With the department of Biochemistry, University of Leicester)

The Kynurenine Pathway Modulates Neurodegeneration in a Drosophila Model of Huntington's Disease
Campesan S, Green EW, Breda C, Sathyasaikumar KV, Muchowski PJ, Schwarcz R, Kyriacou CP, Giorgini F. Curr Biol. 2011 Jun 7;21(11):961-6. (With the department of Genetics, University of Leicester)

Pathway analysis shows association between FGFBP1 and hypertension
Tomaszewski M, Charchar FJ, Nelson CP, Barnes T, Denniff M, Kaiser M, Debiec R, et al. J Am Soc Nephrol. 2011 May;22(5):947-55. (With the department of Cardiovascular Sciences)

Dense genotyping of candidate gene Loci identifies variants associated with high-density lipoprotein cholesterol
Edmondson, AC, Braund PS, Stylianou IM, Khera AV, Nelson CP, Wolfe ML, Derohannessian SL. et al. Circ Cardiovasc Genet. 2011 Apr;4(2):145-55. (With the department of Cardiovascular Sciences, University of Leicester)

Heritability of early repolarization: a population-based study
Reinhard W, Kaess BM, Debiec R, Nelson CP, Stark K, Tobin MD, Macfarlane PW et al. Circ Cardiovasc Genet. 2011 Apr;4(2):134-8. (With the department of Cardiovascular Sciences, University of Leicester)

Functional gene expression profiling in yeast implicates translational dysfunction in mutant huntingtin toxicity
Tauber E, Miller-Fleming L, Mason RP, Kwan W, Clapp J, Butler NJ, Outeiro TF, Muchowski PJ, Giorgini F. J Biol Chem. 2011 Jan 7;286(1):410-9. (With the department of Genetics, University of Leicester)

Large-scale candidate gene analysis of HDL particle features
Kaess BM, Tomaszewski M, Braund PS, Stark K, Rafelt S, Fischer M, Hardwick R, et al. PLoS One. 2011 Jan 21;6(1):e14529. (With the department of Cardiovascular Sciences, University of Leicester)

Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height
Lanktree MB, Guo Y, Murtaza M, Glessner JT, Bailey SD, Onland-Moret NC, Lettre G, et al. Am J Hum Genet. 2011 Jan 7;88(1):6-18. (With the department of Population Health Sciences and the department of Cardiovascular Sciences, University of Leicester)

The relationship between plasma angiopoietin-like protein 4 levels, angiopoietin-like protein 4 genotype, and coronary heart disease risk
Smart-Halajko MC, Robciuc MR, Cooper JA, Jauhiainen M, Kumari M, Kivimaki M, Khaw KT, et al. Arterioscler Thromb Vasc Biol. 2010 Nov;30(11):2277-82. (With the department of Cardiovascular Sciences, University of Leicester)

Lysine Specific Demethylase 1 (LSD1) Regulates the Embryonic Transcriptome and CoREST Stability
Foster CT, Dovey OM, Lezina L, Luo JL, Gant TW, Barlev N, Bradley A, Cowley SM. Mol Cell Biol. 2010 Aug 16. [Epub ahead of print]. (With the department of Biochemistry, University of Leicester)

Histone deacetylase 1 (HDAC1), but not HDAC2, controls embryonic stem cell differentiation.
Dovey OM, Foster CT, Cowley SM. Proc Natl Acad Sci U S A. 2010 May 4; 107(18):8242-7. (With the department of Biochemistry, University of Leicester)

Genetic Architecture of Ambulatory Blood Pressure in the General Population: Insights From Cardiovascular Gene-Centric Array
Tomaszewski M, Debiec R, Braund PS, Nelson CP, Hardwick R, Christofidou P et al. Hypertension. 2010 Dec;56(6):1069-1076. Epub 2010 Nov 8. (With the department of Cardiovascular Sciences, University of Leicester)

Triglyceride-mediated pathways and coronary disease: collaborative analysis of 101 studies.
Triglyceride Coronary Disease Genetics Consortium and Emerging Risk Factors Collaboration, Sarwar N, Sandhu MS, Ricketts SL, Butterworth AS, Di Angelantonio E, Boekholdt SM et al. Lancet. 2010 May 8;375(9726):1634-9. (With the department of Cardiovascular Sciences, University of Leicester)