Publications: Prof Edel O'Toole
Steele L, Schwartz J, Hansen CD, O'Toole EA
(
2021
)
.
Prevalence and Characterization of Itch in Pachyonychia Congenita
.
JAMA Dermatology
vol.
157
,
(
11
)
1378
-
1380
.
Heywood WE, Bliss E, Bahelil F, Cyrus T, Crescente M, Jones T, Iqbal S, Paredes LG et al.
(
2021
)
.
Proteomic signatures for perioperative oxygen delivery in skin after major elective surgery: mechanistic sub-study of a randomised controlled trial
.
British Journal of Anaesthesia
vol.
127
,
(
4
)
511
-
520
.
Lincoln V, Chao L, Woodley DT, Murrell D, Kim M, O'Toole EA, Ly A, Cogan J et al.
(
2021
)
.
Over-expression of stromal periostin correlates with poor prognosis of cutaneous squamous cell carcinomas
.
Experimental Dermatology
vol.
30
,
(
5
)
698
-
704
.
Langton AK, Ayer J, Griffiths TW, Rashdan E, Naidoo K, Caley MP, Birch-Machin MA, O'Toole EA et al.
(
2021
)
.
Distinctive clinical and histological characteristics of atrophic and hypertrophic facial photoageing
.
Journal of the European Academy of Dermatology and Venereology
vol.
35
,
(
3
)
762
-
768
.
Bodemer C, Steijlen P, Mazereeuw-Hautier J, O'Toole EA
(
2021
)
.
Treatment of hereditary palmoplantar keratoderma: a review by analysis of the literature*
.
British Journal of Dermatology
vol.
184
,
(
3
)
393
-
400
.
Reynolds G, Vegh P, Fletcher J, Poyner EFM, Stephenson E, Goh I, Botting RA, Huang N et al.
(
2021
)
.
Developmental cell programs are co-opted in inflammatory skin disease
.
Science
vol.
371
,
(
6527
)
Steele L, Hong A, Balogh P, O'Toole EA, Harwood CA, Maruthappu T
(
2021
)
.
Disseminated tinea incognita in a patient with ichthyosis vulgaris and eczema
.
Clinical and Experimental Dermatology
vol.
46
,
(
1
)
210
-
212
.
Tan XL, Thomas BR, Tan YJ, O’Toole EA
(
2021
)
.
Effects of systemic therapies on pruritus in adults with atopic dermatitis: a systematic review and meta-analysis
.
Clinical and Experimental Dermatology
Steele L, Tawfik SS, O'Toole EA
(
2020
)
.
The Proteolytic Network in Palmoplantar Keratoderma: SERPINA12 Joins the Family
.
Journal of Investigative Dermatology
vol.
140
,
(
11
)
2111
-
2113
.
Caley MP, Martins VL, Moore K, Lashari M, Nissinen L, Kähäri V-M, Alexander S, Jones E et al.
(
2020
)
.
Loss of Laminin α3 induces cell invasion and macrophage infiltration in cutaneous squamous cell carcinoma
.
British Journal of Dermatology
Mateo-Casas M, Reyes S, O'Toole EA, De Trane S, Yildiz O, Allen-Philbey K, Mathews J, Baker D et al.
(
2020
)
.
Severe skin reactions associated with cladribine in people with multiple sclerosis
.
Multiple Sclerosis and Related Disorders
.
vol.
43
,
Enjalbert F, Dewan P, Caley MP, Jones EM, Morse MA, Kelsell DP, Enright AJ, O'Toole EA
(
2020
)
.
3D model of harlequin ichthyosis reveals inflammatory therapeutic targets
.
Journal of Clinical Investigation
Kazmi A, O'Toole E, Maruthappu T
(
2020
)
.
Not just skin deep: a complicated DRESS
.
BRITISH JOURNAL OF DERMATOLOGY
.
vol.
182
,
E129
-
E130
.
Simpson JK, Martinez-Queipo M, Onoufriadis A, Tso S, Glass E, Liu L, Higashino T, Scott W et al.
(
2020
)
.
Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis
.
British Journal of Dermatology
vol.
182
,
(
3
)
729
-
737
.
Steele L, O'Toole EA
(
2020
)
.
Pachyonychia congenita, a paradigm for rare skin disorders
.
British Journal of Dermatology
vol.
182
,
(
3
)
521
-
522
.
Funk T, Hansen CD, Paller A, O'Toole EA
(
2020
)
.
Update on pachyonychia congenita research
.
British Journal of Dermatology
vol.
182
,
(
3
)
788
-
789
.
Thomas BR, O’Toole EA
(
2020
)
.
Diagnosis and management of inherited palmoplantar keratodermas
.
Acta Dermato-Venereologica
vol.
100
,
(
100-year theme Genodermatoses
)
168
-
176
.
Thomas BR, Javadzadeh S, Robinson E, Ahmed R, Begum R, Rahman S, Khanam H, Kelsell DP et al.
(
2019
)
.
163 Eczema: Relationships between the environment, severity and the risk of admission to hospital
.
Journal of Investigative Dermatology
.
vol.
139
,
Jones EM, Marsh S, O’Shaughnessy RF, CAMERA E, Picardo M, Aumailley M, O’Toole E, Caley M
(
2019
)
.
274 Junctional Epidermolysis Bullosa: Bottom Up Control Of The Skin Barrier?
.
Journal of Investigative Dermatology
.
vol.
139
,
Caley M, Marsh S, Martins VL, Corbett-Jones T, Chen M, Di W, Sheer D, McGrath JA et al.
(
2019
)
.
298 Defective DNA Repair and Chromosomal Instability in RDEB
.
Journal of Investigative Dermatology
.
vol.
139
,
Zamiri M, Wilson NJ, O'Toole EA, Smith FJD
(
2019
)
.
Novel mutations in desmoglein 1: focal palmoplantar keratoderma in milder phenotypes
.
British Journal of Dermatology
vol.
181
,
(
3
)
618
-
620
.
Theocharopoulos I, O'Toole EA
(
2019
)
.
Stopping pachyonychia congenita plantar pain with a statin?
.
British Journal of Dermatology
vol.
181
,
(
3
)
446
-
447
.
Javadzadeh S, O'Toole EA
(
2019
)
.
Pyogenic granulomas as a side-effect of retinoid therapy, with ADAM17 as a potential key player: a case series
.
BRITISH JOURNAL OF DERMATOLOGY
.
vol.
181
,
83
-
83
.
Maruthappu T, Posafalvi A, Castelletti S, Delaney PJ, Syrris P, O'Toole EA, Green KJ, Elliott PM et al.
(
2019
)
.
Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype
.
British Journal of Dermatology
vol.
180
,
(
5
)
1114
-
1122
.
Mazereeuw-Hautier J, Hernández-Martín A, O'Toole EA, Bygum A, Amaro C, Aldwin M, Audouze A, Bodemer C et al.
(
2019
)
.
Management of congenital ichthyoses: European guidelines of care, part two
.
British Journal of Dermatology
vol.
180
,
(
3
)
484
-
495
.
Mazereeuw-Hautier J, Vahlquist A, Traupe H, Bygum A, Amaro C, Aldwin M, Audouze A, Bodemer C et al.
(
2019
)
.
Management of congenital ichthyoses: European guidelines of care, part one
.
British Journal of Dermatology
vol.
180
,
(
2
)
272
-
281
.
Smith PP, Dhillon-Smith RK, O'Toole E, Cooper N, Coomarasamy A, Clark TJ
(
2019
)
.
Outcomes in prevention and management of miscarriage trials: a systematic review
.
BJOG
vol.
126
,
(
2
)
176
-
189
.
Bladen JC, Wang J, Sangaralingam A, Moosajee M, Fitchett C, Chelala C, Beaconsfield M, O'Toole EA et al.
(
2018
)
.
MicroRNA and transcriptome analysis in periocular Sebaceous Gland Carcinoma
.
Scientific Reports
vol.
8
,
(
1
)
David J, O'Toole E, O'Reilly K, Thuery G, Assmann N, Finlay D, Harkin A
(
2018
)
.
Inhibitors of the NMDA-Nitric Oxide Signaling Pathway Protect Against Neuronal Atrophy and Synapse Loss Provoked by l-alpha Aminoadipic Acid-treated Astrocytes
.
Neuroscience
vol.
392
,
38
-
56
.
Vodo D, O'Toole EA, Malchin N, Lahav A, Adir N, Sarig O, Green KJ, Smith FJD et al.
(
2018
)
.
Striate palmoplantar keratoderma resulting from a missense mutation in DSG1
.
British Journal of Dermatology
vol.
179
,
(
3
)
755
-
757
.
Alexander SC, Marsh S, Caley M, O'Toole EA
(
2018
)
.
Understanding Angiogenesis in Squamous Cell Carcinoma with Loss of Type VII Collagen
.
JOURNAL OF PATHOLOGY
.
vol.
246
,
S44
-
S44
.
Castelletti S, Maruthappu T, Posafalvi A, Syrris P, O'Toole EA, Green KJ, Tinker A, McKenna WJ et al.
(
2018
)
.
Hair and cutaneous phenotypes linked to Arrhythmogenic Cardiomyopathy caused by Desmoplakin haploinsufficiency: an additional disease marker
.
EUROPEAN HEART JOURNAL
.
vol.
39
,
1206
-
1206
.
Castelletti S, Maruthappu T, Posafalvi A, Syrris P, O'Toole EA, Green KJ, Tinker A, McKenna WJ et al.
(
2018
)
.
P5709Hair and cutaneous phenotypes linked to Arrhythmogenic Cardiomyopathy caused by Desmoplakin haploinsufficiency: an additional disease marker
.
European Heart Journal
vol.
39
,
(
suppl_1
)
Wray EV, Wilson NJ, O'Toole E, Smith F, Zamiri M
(
2018
)
.
Novel mutations in desmoglein 1: focal palmoplantar keratoderma in milder phenotypes
.
BRITISH JOURNAL OF DERMATOLOGY
.
vol.
179
,
82
-
83
.
Simpson J, Martinez-Queipo M, Onoufriadis A, Tso S, Glass E, Liu L, Higashino T, Scott W et al.
(
2018
)
.
Phenotypic spectrum of 146 cases of autosomal recessive congenital ichthyosis in England
.
BRITISH JOURNAL OF DERMATOLOGY
.
vol.
179
,
80
-
81
.
Krupiczojc MA, O'Toole EA
(
2018
)
.
Plantar pain in pachyonychia congenita
.
British Journal of Dermatology
vol.
179
,
(
1
)
11
-
12
.
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
Enjalbert F, Dewan P, Caley MP, Fell B, Morse M, Kelsell D, Enright A, O'Toole EA
(
2018
)
.
661 Understanding the role of ABCA12 in the pathogenesis of harlequin ichthyosis
.
Journal of Investigative Dermatology
.
vol.
138
,
Jones E, Marsh S, O'Shaughnessy R, Aumailley M, O'Toole EA, Caley MP
(
2018
)
.
680 A role for the basement membrane in skin lipid trafficking
.
Journal of Investigative Dermatology
.
vol.
138
,
Marsh S, Caley MP, Martins V, Chen M, McGrath J, Barnes M, O'Toole EA
(
2018
)
.
812 Type VII collagen and Nesprin 2, LINCing the basement membrane to altered cell cycle and increased DNA damage
.
Journal of Investigative Dermatology
.
vol.
138
,
Bladen JC, Moosajee M, Tracey-White D, Beaconsfield M, O’Toole EA, Philpott MP
(
2018
)
.
Analysis of hedgehog signaling in periocular sebaceous carcinoma
.
Graefe's Archive for Clinical and Experimental Ophthalmology
vol.
256
,
(
4
)
853
-
860
.
McDonald BS, Pigors M, Kelsell DP, O'Toole EA, Burkitt-Wright E, Kerr B, Batta K
(
2018
)
.
Noonan syndrome with multiple lentigines and associated craniosynostosis
.
Clinical and Experimental Dermatology
vol.
43
,
(
3
)
357
-
359
.
Maruthappu T, McGinty LA, Blaydon DC, Fell B, Määttä A, Duit R, Hawkins T, Braun KM et al.
(
2018
)
.
Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
.
Journal of Investigative Dermatology
vol.
138
,
(
4
)
984
-
987
.
Thomas LJ, Freeman A, O'Toole EA, McGrath JA, Perrett CM
(
2018
)
.
Inherited palmoplantar keratodermas: the heart of the matter
.
Clinical and Experimental Dermatology
vol.
43
,
(
2
)
228
-
230
.
Smith CJ, Caley M, Parkinson EK, O'Toole EA, Pratten J, Yang J
(
2018
)
.
INVESTIGATING THE DIFFERENCES IN THE WOUND HEALING RESPONSES OF SKIN AND GINGIVAL KERATINOCYTES
.
WOUND REPAIR AND REGENERATION
.
vol.
26
,
A30
-
A31
.
Ip SCI, Cottle DL, Jones LK, Weir JM, Kelsell DP, O'Toole EA, Meikle PJ, Smyth IM
(
2017
)
.
A profile of lipid dysregulation in harlequin ichthyosis
.
Br J Dermatol
vol.
177
,
(
5
)
e217
-
e219
.
Enjalbert F, Dewan P, Caley M, Fell B, Morse M, Kelsell DP, Enright A, O'Toole EA
(
2017
)
.
Understanding the role of ABCA12 in the Pathogenesis of Harlequin Ichthyosis
.
JOURNAL OF INVESTIGATIVE DERMATOLOGY
.
Conference:
ESDR 2017
vol.
137
,
S208
-
S208
.
Badowski C, Sim AYL, Verma C, Szeverényi I, Natesavelalar C, Terron-Kwiatkowski A, Harper J, O'Toole EA et al.
(
2017
)
.
Modeling the Structure of Keratin 1 and 10 Terminal Domains and their Misassembly in Keratoderma
.
Journal of Investigative Dermatology
vol.
137
,
(
9
)
1914
-
1923
.
Kanapathy M, Hachach-Haram N, Bystrzonowski N, Connelly JT, O'Toole EA, Becker DL, Mosahebi A, Richards T
(
2017
)
.
Epidermal grafting for wound healing: a review on the harvesting systems, the ultrastructure of the graft and the mechanism of wound healing
.
International Wound Journal
vol.
14
,
(
1
)
16
-
23
.
Kelsell DP, Rajpopat S, Thomas A, O'Toole EA
(
2016
)
.
Harlequin Ichthyosis: genetic, functional and clinical investigations
.
BRITISH JOURNAL OF DERMATOLOGY
.
vol.
175
,
50
-
50
.
O'Toole EA, Ruban EL, Balogun M, Martins VL, Caley MP, Falasca M
(
2016
)
.
Phospholipase C beta4 is a therapeutic target in cutaneous squamous cell carcinoma
.
BRITISH JOURNAL OF DERMATOLOGY
.
vol.
175
,
56
-
57
.
McGeoghan F, Menon M, Dewan P, Caley M, Donaldson M, O’Toole EA
(
2016
)
.
132 Identification of novel pathways linked to the pathogenesis of Recessive X-Linked Ichthyosis
.
Journal of Investigative Dermatology
.
vol.
136
,
Enjalbert F, Dewan P, Caley M, Fell B, Donaldson M, Kelsell DP, O’Toole EA
(
2016
)
.
133 Understanding the role of ABCA12 in the pathogenesis of Harlequin Ichthyosis
.
Journal of Investigative Dermatology
.
vol.
136
,
Maruthappu T, McGinty L, Blaydon D, Duit R, Maatta A, O’Toole E, Kelsell DP
(
2016
)
.
180 Mutations in FAM83G/PAWS1 cause autosomal recessive palmoplantar keratoderma with leukonychia and abundant curly hair
.
Journal of Investigative Dermatology
.
vol.
136
,
Posafalvi A, Maruthappu T, Castelletti S, Syrris P, O’Toole E, McKenna WJ, Kelsell DP
(
2016
)
.
183 Clinical and genetic studies reveal cutaneous phenotypes linked to desmoplakin haploinsufficiency in arrhythmogenic cardiomyopathy
.
vol.
136
,
is.
9
,
Caley M, Martins V, Moore K, Lashari M, Kähäri V, Nissinen L, Donaldson M, Marshall J et al.
(
2016
)
.
472 Loss of Laminin α3 drives SCC invasion via ROCK signalling
.
Journal of Investigative Dermatology
.
vol.
136
,
Ahmed A, McGinty L, Blaydon D, Kelsell DP, O'Toole EA, De Silva B
(
2016
)
.
Mild arthrogryposis, renal dysfunction and cholestasis syndrome caused by a novel splice-site mutation in VPS33B
.
BRITISH JOURNAL OF DERMATOLOGY
.
vol.
175
,
81
-
82
.
McDonald B, Amieva M, Kelsell DP, O'Toole EA, Burkett-Wright E, Kerr B, Batta K
(
2016
)
.
Noonan syndrome with multiple lentigines identified by next-generation sequencing
.
BRITISH JOURNAL OF DERMATOLOGY
.
vol.
175
,
163
-
163
.
Ziaj S, Pigors M, Scott C, Lewis F, Ali I, Roberts N, Kelsell DP, O'Toole EA
(
2016
)
.
Novel mutations in SLURP1 causing Mal de Meleda palmoplantar keratoderma with varying phenotypes
.
BRITISH JOURNAL OF DERMATOLOGY
.
vol.
175
,
81
-
81
.
Muttardi K, Nitoiu D, Kelsell DP, O'Toole EA, Batta K
(
2016
)
.
Acral peeling skin syndrome associated with a novel CSTA gene mutation
.
Clinical and Experimental Dermatology
vol.
41
,
(
4
)
394
-
398
.
McGeoghan FT, O’Toole E, Caley M, Menon M, Dewan P, Donaldson M
(
2016
)
.
375 Modelling and understanding pathomechanisms of X-linked recessive ichthyosis in vitro
.
Journal of Investigative Dermatology
.
vol.
136
,
Pigors M, Common JE, Wong C, Malik S, Scott CA, Foo J, Liu J, Margolis D et al.
(
2016
)
.
380 Exome sequencing and rare variant analysis reveals multiple filaggrin mutations in Bangladeshi atopic eczema families and novel risk genes
.
Journal of Investigative Dermatology
.
vol.
136
,
Chao L, Gor V, Murrell DF, Kim M, O’Toole E, Ly A, Woodley D, Wysong A et al.
(
2016
)
.
421 Over-expression of periostin is associated with clinical outcomes and poor prognosis in cutaneous squamous cell carcinoma
.
Journal of Investigative Dermatology
.
vol.
136
,
Badowski C, Sim AYL, Verma C, Szeverenyi I, Dang TT, Ng Y, Natesavelalar C, Benny P et al.
(
2016
)
.
A new model for the structure of the head domains of keratins K1 and K10 and its implications for striate palmoplantar keratoderma
.
BRITISH JOURNAL OF DERMATOLOGY
.
vol.
174
,
E45
-
E45
.
Kenny F, Kao A, Barber A, O'Toole E, Connelly J
(
2016
)
.
Epidermal growth factor signalling mediates keratinocyte mechanoregulation
.
BRITISH JOURNAL OF DERMATOLOGY
.
vol.
174
,
E44
-
E44
.
Pigors M, Common JEA, Wong C, Scott CA, Foo JN, Liu J, O'Toole E, Simpson MA et al.
(
2016
)
.
Exome sequencing reveals multiple filaggrin mutations in Bangladeshi families with atopic eczema
.
BRITISH JOURNAL OF DERMATOLOGY
.
vol.
174
,
E64
-
E65
.
Caley M, Martins V, Moore K, Lashari M, Donaldson M, Marshall JF, O'Toole EA
(
2016
)
.
ROCK and Rac1 signalling in squamous cell carcinoma with loss of laminin 332
.
BRITISH JOURNAL OF DERMATOLOGY
.
vol.
174
,
E51
-
E51
.
Wee JS, Smith FJD, Wilson NJ, O'Toole EA
(
2016
)
.
Focal PPK secondary to a novel KRT6C mutation (Pachyonychia congenita-K6c)
.
Journal of the European Academy of Dermatology and Venereology
vol.
30
,
(
8
)
1415
-
1416
.
Krupiczojc MA, O'Toole EA
(
2016
)
.
Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa
.
British Journal of Dermatology
vol.
174
,
(
1
)
Hill DS, Robinson NDP, Caley MP, Chen M, O'Toole EA, Armstrong JL, Przyborski S, Lovat PE
(
2015
)
.
A novel fully humanized 3D skin equivalent to model early melanoma invasion
.
Molecular Cancer Therapeutics
vol.
14
,
(
11
)
2665
-
2673
.
Wilson NJ, Cole C, Milstone LM, Kiszewski AE, Hansen CD, O'Toole EA, Schwartz ME, McLean WHI et al.
(
2015
)
.
Expanding the Phenotypic Spectrum of Olmsted Syndrome
.
Journal of Investigative Dermatology
vol.
135
,
(
11
)
2879
-
2883
.
Thomson J, O'Toole EA
(
2015
)
.
The future of U.K. dermatology translational research through the Oracle of Delphi
.
British Journal of Dermatology
vol.
173
,
(
5
)
1122
-
1123
.
Kopecki Z, Yang GN, Jackson JE, Melville EL, Calley MP, Murrell DF, Darby IA, O'Toole EA et al.
(
2015
)
.
Cytoskeletal protein Flightless I inhibits apoptosis, enhances tumor cell invasion and promotes cutaneous squamous cell carcinoma progression
.
Oncotarget
vol.
6
,
(
34
)
36426
-
36440
.
Martins VL, Caley MP, Moore K, Szentpetery Z, Marsh ST, Murrell DF, Kim MH, Avari M et al.
(
2015
)
.
Suppression of TGFβ and Angiogenesis by Type VII Collagen in Cutaneous SCC
.
J Natl Cancer Inst
vol.
108
,
(
1
)
Marsh S, Martins V, Caley M, Barnes M, Donaldson MJ, O'toole E
(
2015
)
.
Loss of keratinocyte type VII collagen induces pro-carcinogenic transcriptomic pathways
.
JOURNAL OF INVESTIGATIVE DERMATOLOGY
.
vol.
135
,
S44
-
S44
.
McGeoghan FT, Derwin P, Caley M, Donaldson MJ, O'toole E
(
2015
)
.
Modelling X-linked recessive ichthyosis in vitro
.
JOURNAL OF INVESTIGATIVE DERMATOLOGY
.
vol.
135
,
S62
-
S62
.
Martins V, Caley M, Moore K, Szentpetery Z, Marsh S, Murrell DF, Kaehaeri V, McGrath J et al.
(
2015
)
.
Skin type VII collagen acts as a tumour suppressor by regulating TGF beta and angiogenesis
.
JOURNAL OF INVESTIGATIVE DERMATOLOGY
.
vol.
135
,
S28
-
S28
.
Caley M, Martins V, Marsh S, Moore K, Lashari M, Donaldson MJ, Marshall J, O'toole E
(
2015
)
.
Squamous Cell Carcinoma progression and Laminin 332
.
JOURNAL OF INVESTIGATIVE DERMATOLOGY
.
vol.
135
,
S23
-
S23
.
Chinthapalli S, Buckley D, Lin Z, Nitoiu D, Scott C, Smith F, Yang Y, Kelsell D et al.
(
2015
)
.
A novel peeling skin syndrome
.
BRITISH JOURNAL OF DERMATOLOGY
.
vol.
173
,
78
-
78
.
Knöbel M, O'Toole EA, Smith FJD
(
2015
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