Publications: Dr Charles Mein
Wu X, Senanayake R, Goodchild E, Bashari WA, Salsbury J, Cabrera CP, Argentesi G, O’Toole SM et al.
(
2023
)
.
[<sup>11</sup>C]metomidate PET-CT versus adrenal vein sampling for diagnosing surgically curable primary aldosteronism: a prospective, within-patient trial
.
Nature Medicine
vol.
29
,
(
1
)
190
-
202
.
Maiarù M, Acton R, Woźniak E, Mein C, Bell C, Géranton S
(
2022
)
.
Using the DNA methylation profile of the stress driver gene<i>FKBP5</i>for chronic pain diagnosis
.
Mesnage R, Panzacchi S, Bourne E, Mein CA, Perry MJ, Hu J, Chen J, Mandrioli D et al.
(
2022
)
.
Glyphosate and its formulations Roundup Bioflow and RangerPro alter bacterial and fungal community composition in the rat caecum microbiome
.
Frontiers in Microbiology
vol.
13
,
Mesnage R, Panzacchi S, Bourne E, Mein C, Perry M, Hu J, Chen J, Mandrioli D et al.
(
2022
)
.
SOC-IV-10 Glyphosate and its formulations Roundup Bioflow and RangerPro alter bacterial and fungal community composition in the rat caecum microbiome
.
Toxicology Letters
vol.
368
,
Mesnage R, Ibragim M, Mandrioli D, Falcioni L, Tibaldi E, Belpoggi F, Brandsma I, Bourne E et al.
(
2022
)
.
Comparative Toxicogenomics of Glyphosate and Roundup Herbicides by Mammalian Stem Cell-Based Genotoxicity Assays and Molecular Profiling in Sprague-Dawley Rats
.
Toxicological Sciences
vol.
186
,
(
1
)
83
-
101
.
Mesnage R, Mahmud N, Mein CA, Antoniou MN
(
2021
)
.
Alterations in small RNA profiles in liver following a subchronic exposure to a low-dose pesticide mixture in Sprague-Dawley rats
.
Toxicology Letters
vol.
353
,
20
-
26
.
Cardosa SR, Ogunkolade BW, Lowe R, Savage E, Mein CA, Boucher BJ, Hitman GA
(
2021
)
.
Areca catechu-(Betel-nut)-induced whole transcriptome changes in a human monocyte cell line that may have relevance to diabetes and obesity; a pilot study
.
BMC Endocrine Disorders
vol.
21
,
(
1
)
Mesnage R, Teixeira M, Mandrioli D, Falcioni L, Ibragim M, Ducarmon QR, Zwittink RD, Amiel C et al.
(
2021
)
.
Multi-omics phenotyping of the gut-liver axis reveals metabolic perturbations from a low-dose pesticide mixture in rats
.
Communications Biology
vol.
4
,
(
1
)
Ponnusamy V, Ip RTH, Mohamed MAEK, Clarke P, Wozniak E, Mein C, Schwendimann L, Barlas A et al.
(
2021
)
.
Neuronal let-7b-5p acts through the Hippo-YAP pathway in neonatal encephalopathy
.
Communications Biology
vol.
4
,
(
1
)
(
2021
)
.
Correction: BS18 Profiling endothelial gene expression in coronary atherosclerotic plaques in a human-like D374Y-PCSK9 hyperlipidaemic porcine model
.
Heart
vol.
107
,
(
19
)
e10
-
e10
.
Zhou J, Azizan EAB, Cabrera CP, Fernandes-Rosa FL, Boulkroun S, Argentesi G, Cottrell E, Amar L et al.
(
2021
)
.
Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause
.
Nature Genetics
Thomas BR, Tan XL, Javadzadeh S, Robinson EJ, McDonald BS, Dhoat S, Krupiczojc MA, Rahman SR et al.
(
2021
)
.
Phenotype association with filaggrin loss-of-function variants in 349 individuals with eczema from the Tower Hamlets Eczema Assessment (THEA)
.
BRITISH JOURNAL OF DERMATOLOGY
.
vol.
185
,
131
-
132
.
Naser J, Mein CA, Wozniak E, Carassiti D, Mahomed AS, Krams R, de Silva R
(
2021
)
.
BS18 Profiling endothelial gene expression in coronary atherosclerotic plaques in a human-like D374Y-PCSK9 hyperlipidaemic porcine model
.
Heart
.
Conference:
Heart
vol.
107
,
a166
-
a167
.
Acton R, Yuan W, Gao F, Xia Y, Bourne E, Wozniak E, Bell J, Lillycrop K et al.
(
2021
)
.
The Genomic Loci of Specific Human tRNA Genes Exhibit Ageing-Related DNA Hypermethylation
.
Nature Communications
Zhou J, Boulkroun S, Cabrera CP, Azizan EAB, Fernandes-Rosa F, Cottrell E, Argentesi G, Wu X et al.
(
2021
)
.
CTNNB1-Mutant Aldosterone-Producing Adenomas With Somatic Mutations of GNA11/GNAQ Have Distinct Phenotype and Genotype
.
Journal of the Endocrine Society
vol.
5
,
(
Suppl 1
)
a65
-
a66
.
Crescente M, Armstrong PC, Kirkby NS, Edin ML, Chan MV, Lih FB, Jiao J, Maffucci T et al.
(
2020
)
.
Profiling the eicosanoid networks that underlie the anti- and pro-thrombotic effects of aspirin
.
The FASEB Journal
Lone NM, Riaz S, Eusaph AZ, Mein CA, Wozniak EL, Xenakis T, Wu Z, Younis S et al.
(
2020
)
.
Genotype-independent association between vitamin D deficiency and polycystic ovarian syndrome in Lahore, Pakistan
.
Scientific Reports
vol.
10
,
(
1
)
Acton R, Yuan W, Gao F, Xia Y, Bourne E, Wozniak E, Bell J, Lillycrop K et al.
(
2019
)
.
The Genomic Loci of Specific Human tRNA Genes Exhibit Ageing-Related DNA Hypermethylation
.
Thomas AM, Cabrera CP, Finlay M, Lall K, Nobles M, Schilling RJ, Wood K, Mein CA et al.
(
2019
)
.
Differentially expressed genes for atrial fibrillation identified by RNA sequencing from paired human left and right atrial appendages
.
Physiol Genomics
vol.
51
,
(
8
)
323
-
332
.
Biserni M, Mesnage R, Ferro R, Wozniak E, Xenakis T, Mein CA, Antoniou MN
(
2019
)
.
Quizalofop-p-Ethyl Induces Adipogenesis in 3T3-L1 Adipocytes
.
Toxicological Sciences
vol.
170
,
(
2
)
452
-
461
.
Carbajosa G, Malki K, Lawless N, Wang H, Ryder JW, Wozniak E, Wood K, Mein CA et al.
(
2018
)
.
Loss of Trem2 in microglia leads to widespread disruption of cell coexpression networks in mouse brain
.
Neurobiology of Aging
vol.
69
,
151
-
166
.
Jolliffe DA, Greiller CL, Mein CA, Hoti M, Bakhsoliani E, Telcian AG, Simpson A, Barnes NC et al.
(
2018
)
.
Vitamin D receptor genotype influences risk of upper respiratory infection
.
Br J Nutr1
-
10
.
Mesnage R, Biserni M, Balu S, Frainay C, Poupin N, Jourdan F, Wozniak E, Xenakis T et al.
(
2018
)
.
Integrated transcriptomics and metabolomics reveal signatures of lipid metabolism dysregulation in HepaRG liver cells exposed to PCB 126
.
Archives of Toxicology
vol.
92
,
(
8
)
2533
-
2547
.
Soulsbury CD, Lipponen A, Wood K, Mein CA, Hoffman JI, Lebigre C
(
2018
)
.
Age- and quality-dependent DNA methylation correlate with melanin-based coloration in a wild bird
.
Ecology and Evolution
vol.
8
,
(
13
)
6547
-
6557
.
KELSELL DP, O'TOOLE E, PIGORS M, SCOTT CA, Tabarra N, VAN HEEL DA
(
2018
)
.
Exome sequencing and rare variant analysis reveals multiple filaggrin mutations in Bangladeshi atopic eczema families and novel risk genes
.
Journal of Investigative Dermatology
Gilbert RM, Zhang X, Sampson RD, Ehrenstein MR, Nguyen DX, Chaudhry M, Mein C, Mahmud N et al.
(
2018
)
.
Clinical Remission of Sight-Threatening Non-Infectious Uveitis Is Characterized by an Upregulation of Peripheral T-Regulatory Cell Polarized Towards T-bet and TIGIT
.
Frontiers in Immunology
vol.
9
,
907
-
907
.
Mesnage R, Biserni M, Wozniak E, Xenakis T, Mein CA, Antoniou MN
(
2018
)
.
Comparison of transcriptome responses to glyphosate, isoxaflutole, quizalofop-p-ethyl and mesotrione in the HepaRG cell line
.
Toxicology Reports
vol.
5
,
819
-
826
.
Seaborne RA, Strauss J, Cocks M, Shepherd S, O’brien TD, van Someren KA, Bell PG, Murgatroyd C et al.
(
2018
)
.
Methylome of human skeletal muscle after acute & chronic resistance exercise training, detraining & retraining
.
Scientific Data
vol.
5
,
Munroe PB, Addison S, Abrams DJ, Sebire NJ, Cartwright J, Donaldson I, Cohen MM, Mein C et al.
(
2018
)
.
Postmortem Genetic Testing for Cardiac Ion Channelopathies in Stillbirths
.
Circulation: Genomic and Precision Medicine
vol.
11
,
(
1
)
Clark LV, Buckland M, Murphy G, Taylor N, Vleck V, Mein C, Wozniak E, Smuk M et al.
(
2017
)
.
Cytokine responses to exercise and activity in patients with chronic fatigue syndrome: case–control study
.
Clinical and Experimental Immunology
vol.
190
,
(
3
)
360
-
371
.
Das A, Rouault-Pierre K, Kamdar S, Gomez-Tourino I, Wood K, Donaldson I, Mein CA, Bonnet D et al.
(
2017
)
.
Adaptive from Innate: Human IFN-γ+CD4+T Cells Can Arise Directly from CXCL8-Producing Recent Thymic Emigrants in Babies and Adults
.
J Immunol
vol.
199
,
(
5
)
1696
-
1705
.
Turner R, Bourne E, Mein C, Birring S, Shaheen S, Bothamley G
(
2016
)
.
M12 TRPV1 polymorphism in chronic cough: no evidence for an effect on objective measurements of cough
.
Thorax
.
vol.
71
,
Kitchen MO, Bryan RT, Emes RD, Glossop JR, Luscombe C, Cheng KK, Zeegers MP, James ND et al.
(
2016
)
.
Quantitative genome-wide methylation analysis of high-grade non-muscle invasive bladder cancer
.
Epigenetics
vol.
11
,
(
3
)
237
-
246
.
Kitchen M, Bryan R, Emes R, Glossop J, Luscombe C, Cheng K, Zeegers M, James N et al.
(
2016
)
.
936 Quantitative genome-wide methylation analysis of high-grade non-muscle invasive bladder cancer
.
European Urology Open Science
vol.
15
,
(
3
)
Kokkinopoulos I, Ishida H, Saba R, Ruchaya P, Cabrera C, Struebig M, Barnes M, Terry A et al.
(
2015
)
.
Single-cell expression profiling reveals a dynamic state of cardiac precursor cells in the early mouse embryo
.
PLoS ONE
vol.
10
,
(
10
)
Salas-Alanis JC, Wozniak E, Mein CA, Mckinster CCD, Ocampo-Candiani J, Kelsell DP, Hua R, Garza-Rodriguez ML et al.
(
2015
)
.
Mutations in EDA and EDAR genes in a large mexican hispanic cohort with hypohidrotic ectodermal dysplasia
.
Annals of Dermatology
vol.
27
,
(
4
)
474
-
477
.
Yousaf N, Low WY, Onipinla A, Mein C, Caulfield M, Munroe PB, Chernajovsky Y
(
2015
)
.
Differences between disease-associated endoplasmic reticulum aminopeptidase 1 (ERAP1) isoforms in cellular expression, interactions with tumour necrosis factor receptor 1 (TNF-R1) and regulation by cytokines
.
Clinical and Experimental Immunology
vol.
180
,
(
2
)
289
-
304
.
Martineau AR, MacLaughlin BD, Hooper RL, Barnes NC, Jolliffe DA, Greiller CL, Kilpin K, McLaughlin D et al.
(
2015
)
.
Double-blind randomised placebo-controlled trial of bolus-dose vitamin D<inf>3</inf> supplementation in adults with asthma (ViDiAs)
.
Thorax
vol.
70
,
(
5
)
451
-
457
.
Bulmer DC, Botha CA, Wheeldon A, Grey K, Mein CA, Lee K, Knowles CH, Winchester WJ et al.
(
2015
)
.
Evidence of a role for GTP cyclohydrolase-1 in visceral pain
.
Neurogastroenterology and Motility
vol.
27
,
(
5
)
656
-
662
.
Torrance HD, Brohi K, Pearse RM, Mein CA, Wozniak E, Prowle JR, Hinds CJ, O'Dwyer MJ
(
2015
)
.
Association between gene expression biomarkers of immunosuppression and blood transfusion in severely injured polytrauma patients
.
Annals of Surgery
vol.
261
,
(
4
)
751
-
759
.
Rautanen A, Mills TC, Gordon AC, Hutton P, Steffens M, Nuamah R, Chiche JD, Parks T et al.
(
2015
)
.
Genome-wide association study of survival from sepsis due to pneumonia: An observational cohort study
.
The Lancet Respiratory Medicine
vol.
3
,
(
1
)
53
-
60
.
Jolliffe D, Martineau A, James W, Islam K, Mein C, Timms P, Walton R, Griffiths C
(
2014
)
.
M145 Prevalence And Determinants Of Vitamin D Deficiency In Patients With Chronic Obstructive Pulmonary Disease
.
Thorax
.
vol.
69
,
a215
-
a216
.
Jolliffe D, Martineau A, Maclaughlin B, Kiplin K, Timms P, Mein C, Walton R, Griffiths C
(
2014
)
.
P48 Prevalence And Determinants Of Vitamin D Deficiency In Asthma Patients
.
Thorax
.
vol.
69
,
a94
-
a95
.
Haworth KE, Farrell WE, Emes RD, Ismail KMK, Carroll WD, Hubball E, Rooney A, Yates AM et al.
(
2014
)
.
Methylation of the FGFR2 gene is associated with high birth weight centile in humans
.
Epigenomics
vol.
6
,
(
5
)
477
-
491
.
Torrance HDT, Brohi K, Pearse RM, Mein CA, Wozniak E, Prowle JR, Hinds CJ, O'Dwyer MJ
(
2014
)
.
Association between gene expression biomarkers of immunosuppression and blood transfusion in severely injured polytrauma patients
.
Scandinavian Journal of Trauma, Resuscitation and Emergency Medicine
.
vol.
22
,
Addison S, Munroe P, Mein C, Cohen M, Fowler D, Sebire NJ, Peebles D, Taylor A et al.
(
2014
)
.
8.2 cardiac ion channelopathies in unexplained stillbirths
.
Arch Dis Child Fetal Neonatal Ed
vol.
99 Suppl 1
,
Torrance HDT, Brohi K, Pearse RM, Mein CA, Wozniak E, Prowle JR, Hinds CJ, O'Dwyer MJ
(
2014
)
.
Association between gene expression biomarkers of immunosuppression and blood transfusion in severely injured polytrauma patients
.
Annals of Surgery
Riebler A, Menigatti M, Song JZ, Statham AL, Stirzaker C, Mahmud N, Mein CA, Clark SJ et al.
(
2014
)
.
BayMeth:Improved DNA methylation quantification for affinity capture sequencing data using a flexible Bayesian approach
.
Genome Biology
vol.
15
,
(
2
)
Okosun J, Bödör C, Wang J, Araf S, Yang CY, Pan C, Boller S, Cittaro D et al.
(
2014
)
.
Integrated genomic analysis identifies recurrent mutations and evolution patterns driving the initiation and progression of follicular lymphoma
.
Nature Genetics
vol.
46
,
(
2
)
176
-
181
.
Torrance HDT, Brohi K, Pearse RM, Mein CA, Wozniak E, Prowle JR, Hinds CJ, O’Dwyer MJ
(
2014
)
.
Association between gene expression biomarkers of immunosuppression and blood transfusion in severely injured polytrauma patients
.
Scandinavian journal of trauma, resuscitation and emergency medicine
vol.
22
,
(
Suppl 1
)
O7
-
O7
.
Pryce G, Visintin C, Ramagopalan SV, Al-Izki S, De Faveri LE, Nuamah RA, Mein CA, Montpetit A et al.
(
2014
)
.
Control of spasticity in a multiple sclerosis model using central nervous system-excluded CB<inf>1</inf> cannabinoid receptor agonists
.
FASEB Journal
vol.
28
,
(
1
)
117
-
130
.
Hill MJ, Donocik JG, Nuamah RA, Mein CA, Sainz-Fuertes R, Bray NJ
(
2014
)
.
Transcriptional consequences of schizophrenia candidate miR-137 manipulation in human neural progenitor cells
.
Schizophrenia Research
vol.
153
,
(
1-3
)
225
-
230
.
Riebler A, Menigatti M, Song JZ, Statham AL, Stirzaker C, Mahmud N, Mein CA, Clark SJ et al.
(
2013
)
.
BayMeth: Improved DNA methylation quantification for affinity capture sequencing data using a flexible Bayesian approach
.
Coussens AK, Wilkinson RJ, Nikolayevskyy V, Elkington PT, Hanifa Y, Islam K, Timms PM, Bothamley GH et al.
(
2013
)
.
Ethnic Variation in Inflammatory Profile in Tuberculosis
.
PLoS Pathogens
.
vol.
9
,
Carter JA, Górecki DC, Mein CA, Ljungberg B, Hafizi S
(
2013
)
.
CpG dinucleotide-specific hypermethylation of the TNS3 gene promoter in human renal cell carcinoma
.
Epigenetics
vol.
8
,
(
7
)
739
-
747
.
Coussens AK, Wilkinson RJ, Nikolayevskyy V, Elkington PT, Hanifa Y, Islam K, Timms PM, Bothamley GH et al.
(
2013
)
.
Ethnic variation in inflammatory profile in tuberculosis
.
PLoS Pathog
vol.
9
,
(
7
)
Okosun J, Bödör C, Wang J, Araf S, Yang C-Y, Pan C, Boller S, Cittaro D et al.
(
2013
)
.
Integrated genomic analysis identifies recurrent mutations and evolution patterns driving the initiation and progression of follicular lymphoma
.
Nature Genetics
Hunt KA, Mistry V, Bockett NA, Ahmad T, Ban M, Barker JN, Barrett JC, Blackburn H et al.
(
2013
)
.
Negligible impact of rare autoimmune-locus coding-region variants on missing heritability
.
Nature
vol.
498
,
(
7453
)
232
-
235
.
Addison S, Sebire NJ, Taylor AM, Abrams D, Peebles D, Mein C, Munroe PB, Thayyil S
(
2012
)
.
High quality genomic DNA extraction from postmortem fetal tissue
.
Journal of Maternal-Fetal and Neonatal Medicine
vol.
25
,
(
11
)
2467
-
2469
.
Brouilette S, Kuersten S, Mein C, Bozek M, Terry A, Dias KR, Bhaw-Rosun L, Shintani Y et al.
(
2012
)
.
A simple and novel method for RNA-seq library preparation of single cell cDNA analysis by hyperactive Tn5 transposase
.
Developmental Dynamics
vol.
241
,
(
10
)
1584
-
1590
.
Coussens AK, Wilkinson RJ, Hanifa Y, Nikolayevskyy V, Elkington PT, Islam K, Timms PM, Venton TR et al.
(
2012
)
.
Vitamin D accelerates resolution of inflammatory responses during tuberculosis treatment
.
Proceedings of the National Academy of Sciences of the United States of America
vol.
109
,
(
38
)
15449
-
15454
.
Wright WR, Parzych K, Crawford D, Mein C, Mitchell JA, Paul-Clark MJ
(
2012
)
.
Inflammatory transcriptome profiling of human monocytes exposed acutely to Cigarette smoke
.
PLoS ONE
vol.
7
,
(
2
)
Hunt KA, Smyth DJ, Balschun T, Ban M, Mistry V, Ahmad T, Anand V, Barrett JC et al.
(
2012
)
.
Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry
.
Nature Genetics
vol.
44
,
(
1
)
3
-
5
.
Johnson T, Gaunt TR, Newhouse SJ, Padmanabhan S, Tomaszewski M, Kumari M, Morris RW, Tzoulaki I et al.
(
2011
)
.
Blood pressure loci identified with a gene-centric array
.
American Journal of Human Genetics
vol.
89
,
(
6
)
688
-
700
.
Trynka G, Hunt KA, Bockett NA, Romanos J, Mistry V, Szperl A, Bakker SF, Bardella MT et al.
(
2011
)
.
Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease
.
Nature Genetics
vol.
43
,
(
12
)
1193
-
1201
.
Pathan N, Burmester M, Adamovic T, Berk M, Ng KW, Betts H, Macrae D, Waddell S et al.
(
2011
)
.
Intestinal injury and endotoxemia in children undergoing surgery for congenital heart disease
.
American Journal of Respiratory and Critical Care Medicine
vol.
184
,
(
11
)
1261
-
1269
.
VAN HEEL D
(
2011
)
.
Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease
.
Nature Genetics
Addison S, Sebire NJ, Judge-Kronis L, Taylor AM, Abrams D, Scott R, Robertson NJ, Peebles D et al.
(
2011
)
.
Genomic Deoxyribonucleic Acid Extraction from Post Mortem Fetal Tissue
.
Pediatric Research
vol.
70
,
(
Suppl 5
)
406
-
406
.
Rakyan VK, Beyan H, Down TA, Hawa MI, Maslau S, Aden D, Daunay A, Busato F et al.
(
2011
)
.
Identification of type 1 Diabetes-associated DNA methylation variable positions that precede disease diagnosis
.
PLoS Genetics
.
vol.
7
,
Rakyan VK, Beyan H, Down TA, Hawa MI, Maslau S, Aden D, Daunay A, Busato F et al.
(
2011
)
.
Identification of type 1 diabetes-associated DNA methylation variable positions that precede disease diagnosis
.
PLoS Genet
vol.
7
,
(
9
)
Rajpopat S, Moss C, Mellerio J, Vahlquist A, Gånemo A, Hellstrom-Pigg M, Ilchyshyn A, Burrows N et al.
(
2011
)
.
Harlequin ichthyosis: A review of clinical and molecular findings in 45 cases
.
Archives of Dermatology
vol.
147
,
(
6
)
681
-
686
.
Watt SA, Pourreyron C, Purdie K, Hogan C, Cole CL, Foster N, Pratt N, Bourdon J-C et al.
(
2011
)
.
Integrative mRNA profiling comparing cultured primary cells with clinical samples reveals PLK1 and C20orf20 as therapeutic targets in cutaneous squamous cell carcinoma
.
Oncogene
vol.
30
,
(
46
)
4666
-
4677
.
Husain EA, Mein C, Pozo L, Blanes A, Diaz-Cano SJ
(
2011
)
.
Heterogeneous topographic profiles of kinetic and cell cycle regulator microsatellites in atypical (dysplastic) melanocytic nevi
.
Modern Pathology
vol.
24
,
(
4
)
471
-
486
.
Martineau AR, Timms PM, Bothamley GH, Hanifa Y, Islam K, Claxton AP, Packe GE, Moore-Gillon JC et al.
(
2011
)
.
High-dose vitamin D(3) during intensive-phase antimicrobial treatment of pulmonary tuberculosis: a double-blind randomised controlled trial
.
Lancet
vol.
377
,
Article
9761
,
242
-
250
.
Fryer AA, Emes RD, Ismail KMK, Haworth KE, Mein C, Carroll WD, Farrell WE
(
2011
)
.
Quantitative, high-resolution epigenetic profling of CpG loci identifies associations with cord blood plasma homocysteine and birth weight in humans
.
Epigenetics
vol.
6
,
(
1
)
86
-
94
.
Debernardi S, Marzec J, Manodoro F, Dobson R, Mein C, Curtotti A, Mitchell M, Young BD
(
2010
)
.
Discovery and Quantification of Small RNA Molecules In Acute Myeloid Leukaemia Using Solexa High-Throughput Clonal Sequencing
.
Blood
vol.
116
,
(
21
)
847
-
847
.
Cabral RM, Liu L, Hogan C, Dopping-Hepenstal PJC, Winik BC, Asial RA, Dobson R, Mein CA et al.
(
2010
)
.
Homozygous mutations in the 5′ region of the JUP gene result in cutaneous disease but normal heart development in children
.
Journal of Investigative Dermatology
vol.
130
,
(
6
)
1543
-
1550
.
Maeda E, Fleischmann C, Mein CA, Shelton JC, Bader DL, Lee DA
(
2010
)
.
Functional analysis of tenocytes gene expression in tendon fascicles subjected to cyclic tensile strain
.
Connective Tissue Research
vol.
51
,
(
6
)
434
-
444
.
Dubois PCA, Trynka G, Franke L, Hunt KA, Romanos J, Curtotti A, Zhernakova A, Heap GAR et al.
(
2010
)
.
Erratum: Corrigendum: Multiple common variants for celiac disease influencing immune gene expression
.
Nature Genetics
vol.
42
,
(
5
)
465
-
465
.
Dubois PCA, Trynka G, Franke L, Hunt KA, Romanos J, Curtotti A, Zhernakova A, Heap GAR et al.
(
2010
)
.
Erratum: Multiple common variants for celiac disease influencing immune gene expression (Nature Genetics DOI: 10.1038/ng.543)
.
Nature Genetics
vol.
42
,
(
5
)
Paige AJW, Zucknick M, Janczar S, Paul J, Mein CA, Taylor KJ, Stewart M, Gourley C et al.
(
2010
)
.
WWOX tumour suppressor gene polymorphisms and ovarian cancer pathology and prognosis
.
European Journal of Cancer
vol.
46
,
(
4
)
818
-
825
.
Dubois PCA, Trynka G, Franke L, Hunt KA, Romanos J, Curtotti A, Zhernakova A, Heap GAR et al.
(
2010
)
.
Multiple common variants for celiac disease influencing immune gene expression
.
Nature Genetics
vol.
42
,
(
4
)
295
-
302
.
Mead S, Whitfield J, Poulter M, Shah P, Uphill J, Campbell T, Al-Dujaily H, Hummerich H et al.
(
2009
)
.
A novel protective prion protein variant that colocalizes with kuru exposure
.
New England Journal of Medicine
vol.
361
,
(
21
)
2056
-
2065
.
Heap GA, Yang JHM, Downes K, Healy BC, Hunt KA, Bockett N, Franke L, Dubois PC et al.
(
2009
)
.
Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing
.
Human Molecular Genetics
vol.
19
,
(
1
)
122
-
134
.
Martins VL, Vyas JJ, Chen M, Purdie K, Mein CA, South AP, Storey A, McGrath JA et al.
(
2009
)
.
Increased invasive behaviour in cutaneous squamous cell carcinoma with loss of basement-membrane type VII collagen
.
Journal of Cell Science
vol.
122
,
(
11
)
1788
-
1799
.
Sinclair C, O'Toole EA, Paige D, El Bashir H, Robinson J, Dobson R, Lench N, Stevens HP et al.
(
2009
)
.
Filaggrin mutations are associated with ichthyosis vulgaris in the Bangladeshi population
.
British Journal of Dermatology
vol.
160
,
(
5
)
1113
-
1115
.
Iorns E, Lord CJ, Grigoriadis A, McDonald S, Fenwick K, MacKay A, Mein CA, Natrajan R et al.
(
2009
)
.
Integrated functional, gene expression and genomic analysis for the identification of cancer targets
.
PLoS ONE
vol.
4
,
(
4
)
Gueorguiev M, Lecoeur C, Meyre D, Benzinou M, Mein CA, Hinney A, Vatin V, Weill J et al.
(
2009
)
.
Association studies on ghrelin and ghrelin receptor gene polymorphisms with obesity
.
Obesity
vol.
17
,
(
4
)
745
-
754
.
Gueorguiev M, Lecoeur C, Benzinou M, Mein CA, Meyre D, Vatin V, Weill J, Heude B et al.
(
2009
)
.
A genetic study of the ghrelin and growth hormone secretagogue receptor (GHSR) genes and stature
.
Annals of Human Genetics
vol.
73
,
(
1
)
1
-
9
.
O'Riain C, O'Shea DM, Yang Y, Le Dieu R, Gribben JG, Summers K, Yeboah-Afari J, Bhaw-Rosun L et al.
(
2009
)
.
Array-based DNA methylation profiling in follicular lymphoma
.
Leukemia
vol.
23
,
(
10
)
1858
-
1866
.
Mead S, Poulter M, Beck J, Uphill J, Jones C, Cheng EA, Mein CA, Collinge J
(
2008
)
.
Successful amplification of degraded DNA for use with high-throughput SNP genotyping platforms
.
Human Mutation
vol.
29
,
(
12
)
1452
-
1458
.
Yuan M, Tomlinson V, Lara R, Holliday D, Chelala C, Harada T, Gangeswaran R, Manson-Bishop C et al.
(
2008
)
.
Yes-associated protein (YAP) functions as a tumor suppressor in breast
.
Cell Death and Differentiation
vol.
15
,
(
11
)
1752
-
1759
.
O'Riain C, O'Shea D, Yang Y, Gribben J, Afari J, Mein CA, Crook T, Smith P et al.
(
2008
)
.
Methylation profiling in 158 cases of previously untreated follicular lymphoma (FL)
.
ANNALS OF ONCOLOGY
.
vol.
19
,
101
-
101
.
Dixon-McIver A, East P, Mein CA, Cazier JB, Molloy G, Chaplin T, Lister TA, Young BD et al.
(
2008
)
.
Distinctive patterns of microRNA expression associated with karyotype in acute myeloid leukaemia
.
PLoS ONE
vol.
3
,
(
5
)
Zavarella S, Petrone A, Zampetti S, Gueorguiev M, Spoletini M, Mein CA, Leto G, Korbonits M et al.
(
2008
)
.
A new variation in the promoter region, the -604 C>T, and the Leu72Met polymorphism of the ghrelin gene are associated with protection to insulin resistance
.
International Journal of Obesity
vol.
32
,
(
4
)
663
-
668
.
Hunt KA, Zhernakova A, Turner G, Heap GA, Franke L, Bruinenberg M, Romanos J, Dinesen LC et al.
(
2008
)
.
Newly indentified genetic risk variants for celiac disease related to the immune response
.
Nat Genet
vol.
40
,
(
4
)
395
-
402
.
Thomas AC, Sinclair C, Mahmud N, Cullup T, Mellerio JE, Harper J, Dale BA, Turc-Carel C et al.
(
2008
)
.
Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: Implications for prenatal diagnosis
.
British Journal of Dermatology
vol.
158
,
(
3
)
611
-
613
.
Dobson RJB, Munroe PB, Mein CA, Caulfield MJ, Saqi MAS
(
2008
)
.
Combining protein-protein interaction (PPI) network and sequence attributes for predicting hypertension related proteins
.
Communications in Computer and Information Science
.
vol.
13
,
377
-
391
.
Dixon-McIver A, East P, Mein CA, Cazier J-B, Molloy G, Chaplin T, Lister TA, Young B et al.
(
2007
)
.
Association of MicroRNA Expression Profiles with Karyotype in Acute Myeloid Leukaemias Revealed by Real-Time PCR and In Situ Hybridisation
.
Blood
.
vol.
110
,
105
-
105
.
KORBONITS MJ, Hitman GA, Grossman AB, Gueorguiev M, Mein C, Froguel P, McCarthy MI, Hattersley AT et al.
(
2007
)
.
Examining the candidacy of ghrelin as a gene responsible for variation in adult stature in a United Kingdom population with type 2 diabetes
.
J Clin Endocrinol Metab
vol.
92
,
(
6
)
2201
-
2204
.
Sinclair C, O'Toole EA, Paige D, Mein CA, Kelsell DP
(
2007
)
.
A comprehensive survey of 28 candidate genes for atopic dermatitis using a hapTAG approach in a unique Bangladeshi population of East London
.
BRITISH JOURNAL OF DERMATOLOGY
.
vol.
156
,
1103
-
1103
.
Kelsell DP, Blaydon D, Mein CA
(
2007
)
.
Identifying Mutations in Single Gene Disorders
.
145
-
164
.
Bell CG, Meyre D, Petretto E, Levy-Marchal C, Hercberg S, Charles MA, Boyle C, Weill J et al.
(
2007
)
.
No contribution of angiotensin-converting enzyme (ACE) gene variants to severe obesity: A model for comprehensive case/control and quantitative cladistic analysis of ACE in human diseases
.
European Journal of Human Genetics
vol.
15
,
(
3
)
320
-
327
.
Arita K, Jacyk WK, Wessagowit V, Van Rensburg EJ, Chaplin T, Mein CA, Akiyama M, Shimizu H et al.
(
2007
)
.
The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in t1ransglutaminase 1 [4]
.
Journal of Investigative Dermatology
vol.
127
,
(
2
)
490
-
493
.
Baykal C, Tulunay G, Özfuttu A, Jacobs I, Mein CA, Küçükali T, Ayhan A
(
2007
)
.
Breast and ovarian carcinoma in the same patient, metastasis or dual primaries?
.
Turkish Journal of Cancer
vol.
37
,
(
1
)
27
-
30
.
Van Trappen PO, Cullup T, Troke R, Swann D, Shepherd JH, Jacobs IJ, Gayther SA, Mein CA
(
2007
)
.
Somatic mitochondrial DNA mutations in primary and metastatic ovarian cancer
.
Gynecologic Oncology
vol.
104
,
(
1
)
129
-
133
.
KELSELL DP, O'Toole EA, Mein C, Thomas A, Fleckman P, Goodyear H, Wilroy R, DeLozier C et al.
(
2006
)
.
ABCA12 is the major Harlequin Ichthyosis gene
.
Journal of Investigative Dermatology
vol.
126
,
2408
-
2413
.
Munroe PB, CAULFIELD MJ, Newhouse SJ, Mein CA, Wallace C, Clayton D, Webster J, Lathrop M et al.
(
2006
)
.
Increased support for linkage of a novel locus on chromosome 5q13 for essential hypertension in the British Genetics of Hypertension Study
.
Hypertension
vol.
48
,
(
1
)
105
-
111
.
Munroe PB, CAULFIELD MJ, Wallace C, Newhouse SJ, Clayton DG, Samani NJ, Farrall M, Dominiczak A et al.
(
2006
)
.
Linkage Analysis Using Co-Phenotypes in the BRIGHT Study Reveals Novel Potential Susceptibility Loci for Hypertension
.
The American Journal of Human Genetics
vol.
79
,
(
2
)
323
-
331
.
Munroe PB, CAULFIELD MJ, Wallace C, Mein C, Pembroke J, Wiltshire D, Dobson R, Bell JT et al.
(
2006
)
.
Two-dimensional genome-scan identifies novel epistatic loci for essential hypertension
.
Hum Mol Genet
vol.
15
,
(
8
)
1365
-
1374
.
Bell CG, Meyre D, Samson C, Boyle C, Lecoeur C, Tauber M, Jouret B, Jaquet D et al.
(
2005
)
.
Association of melanin-concentrating hormone receptor 1 5′ polymorphism with early-onset extreme obesity
.
Diabetes
vol.
54
,
(
10
)
3049
-
3055
.
Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA, Dopping-Hepenstal PJ, Kennedy CT et al.
(
2005
)
.
Clinical and molecular features of Harlequin ichthyosis
.
BRITISH JOURNAL OF DERMATOLOGY
.
vol.
153
,
5
-
5
.
MUNROE PB, Caulfield M, Dobson R, Newhouse SJ, Lathrop GM, Connell JM, Samani N, Clayton D et al.
(
2005
)
.
Haplotypes of the WNK1 gene associate with blood pressure variation in a severely hypertensive population from the British Genetics of Hypertension study
.
Human Molecular Genetics
vol.
14
,
(
13
)
1805
-
1814
.
KELSELL DP, Leigh IM, O'Toole EA, Mein CA, Norgett EE, Unsworth H, Cullup T, Sybert VP et al.
(
2005
)
.
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis
.
Am J Hum Genet
vol.
76
,
794
-
803
.
Roussel Y, Wilks M, Harris A, Mein C, Tabaqchali S
(
2005
)
.
Evaluation of DNA extraction methods from mouse stomachs for the quantification of H. pylori by real-time PCR
.
Journal of Microbiological Methods
vol.
62
,
(
1
)
71
-
81
.
Buzzetti R, Petrone A, Caiazzo AM, Alemanno I, Zavarella S, Capizzi M, Mein CA, Osborn JA et al.
(
2005
)
.
PPAR-γ2 Pro12Ala variant is associated with greater insulin sensitivity in childhood obesity
.
Pediatric Research
vol.
57
,
(
1
)
138
-
140
.
MUNROE PB, Caulfield MJ, Mein CA
(
2005
)
.
Selection of candidate genes in hypertension
.
vol.
108
,
Buzzetti R, Petrone A, Ribaudo MC, Alemanno I, Zavarella S, Mein CA, Maiani F, Tiberti C et al.
(
2004
)
.
The common PPAR-γ2 Pro12Ala variant is associated with greater insulin sensitivity
.
European Journal of Human Genetics
vol.
12
,
(
12
)
1050
-
1054
.
Brinkmann D, Ryan A, Ayhan A, McCluggage WG, Feakins R, Santibanez-Koref MF, Mein CA, Gayther SA et al.
(
2004
)
.
A molecular genetic and statistical approach for the diagnosis of dual-site cancers
.
Journal of the National Cancer Institute
vol.
96
,
(
19
)
1441
-
1446
.
Bell CG, Benzinou M, Siddiq A, Lecoeur C, Dina C, Lemainque A, Clément K, Basdevant A et al.
(
2004
)
.
Genome-wide linkage analysis for severe obesity in French Caucasians finds significant susceptibility locus on chromosome 19q
.
Diabetes
vol.
53
,
(
7
)
1857
-
1865
.
Newhouse S, Dobson R, Wallace C, Pembroke J, Garcia E, Mein C, Clayton D, Samani N et al.
(
2004
)
.
NO ASSOCIATION OF THE WNK1 GENE WITH ESSENTIAL HYPERTENSION IN THE MRC BRIGHT STUDY
.
Journal of Hypertension
.
vol.
22
,
Mein CA, Caulfield MJ, Dobson RJ, Munroe PB
(
2004
)
.
Genetics of essential hypertension
.
Human Molecular Genetics
vol.
13
,
(
REV. ISS. 1
)
MUNROE PB, CAULFIELD MJ, MEIN CA, DOBSON MJ
(
2004
)
.
Genetics of Essential Hypertension
.
Hum Mol Genet
vol.
13 SPEC 1
,
R169
-
R175
.
Froguel P, HITMAN GA, McDermott MF, Mein CA, Allotey RA, Cassell PG, Sinnot PJ, Snehalatha C et al.
(
2004
)
.
The EIF2AK3 gene region and type I diabetes in subjects from South India
.
Genes Immun
vol.
5
,
648
-
652
.
Petrone A, Zavarella S, Capizzi M, Baroni M, Galgani A, Fioretti F, Fiori R, Alemanno I et al.
(
2003
)
.
Adiponectin gene is associated with obesity and obesity correlated traits in childhood
.
DIABETOLOGIA
.
vol.
46
,
A137
-
A137
.
Beales PL, Badano JL, Ross AJ, Ansley SJ, Hoskins BE, Kirsten B, Mein CA, Froguel P et al.
(
2003
)
.
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome
.
American Journal of Human Genetics
vol.
72
,
(
5
)
1187
-
1199
.
Twells RCJ, Mein CA, Phillips MS, Hess JF, Veijola R, Gilbey M, Bright M, Metzker M et al.
(
2003
)
.
Haplotype structure, LD blocks, and uneven recombination within the LRP5 gene
.
Genome Research
vol.
13
,
(
5
)
845
-
855
.
Twells RCJ, Mein CA, Payne F, Veijola R, Gilbey M, Bright M, Timms A, Nakagawa Y et al.
(
2003
)
.
Linkage and association mapping of the LRP5 locus on chromosome 11q13 in type 1 diabetes
.
Human Genetics
vol.
113
,
(
2
)
99
-
105
.
KORBONITS MJ, Grossman AB, Gueorguiev M, Lecoeur C, O'Grady E, Froguel P, Weill J, Swan DC et al.
(
2002
)
.
A Variation in the Ghrelin Gene Increases Weight and Decreases Insulin Secretion in Tall, Obese Children
.
Journal of Clinical Endocrinology & Metabolism
vol.
87
,
(
8
)
4005
-
4008
.
Allotey RA, Mohan V, McDermott MF, Deepa R, Premalatha G, Hassan Z, Cassell PG, North BV et al.
(
2002
)
.
Association between E1F2AK3 gene region and Type 1 diabetes in Southern Indian subjects
.
DIABETOLOGIA
.
vol.
45
,
A111
-
A111
.
Mein CA
(
2001
)
.
'Ome on the range
.
Trends in Biotechnology
.
vol.
19
,
240
-
241
.
Mein CA, Barratt BJ, Dunn MG, Siegmund T, Smith AN, Esposito L, Nutland S, Stevens HE et al.
(
2000
)
.
Evaluation of single nucleotide polymorphism typing with invader on PCR amplicons and its automation
.
Genome Research
vol.
10
,
(
3
)
330
-
343
.
Mein CA, Esposito L, Dunn MG, Johnson GCL, Timms AE, Goy JV, Smith AN, Sebag-Montefiore L et al.
(
1998
)
.
A search for type 1 diabetes susceptibility genes in families from the United Kingdom
.
Nature Genetics
vol.
19
,
(
3
)
297
-
300
.
Gale RE, Mein CA, Linch DC
(
1996
)
.
Quantification of X-chromosome inactivation patterns in haematological samples using the DNA PCR-based HUMARA assay
.
Leukemia
vol.
10
,
(
2
)
362
-
367
.