BCCHR Researchers Find a Researcher

Francesca Capon

PhD

Investigator, BC Children's Hospital
Chair in Genetic Medicine

My lab is mainly interested in the genetic and immune basis of diseases that present with severe skin inflammation. Some of these conditions (e.g. eczema) are common among children and have a very significant impact on their quality of life. Others are rare but can affect multiple organs (autoinflammatory syndromes) or become potentially life-threatening (generalized pustular psoriasis). We also study a rare form of heart inflammation known as recurrent pericarditis.

We use a variety of genetic and computational approaches to identify disease drivers and determine whether they can be blocked with existing drugs. Where some treatments are available, we seek to characterize the causes of incomplete efficacy and adverse events. Moving forward, we plan to investigate how skin color diversity influences disease mechanisms and response to treatment, to ensure that our discoveries benefit affected individuals, regardless of their ethnicity.

Academic Affiliations

Professor, , Department of Medical Genetics, Faculty of Medicine, University of British Columbia
Research Theme: Childhood Diseases
Research Group(s): Immunity in Health and Disease; Rare Diseases

Contact Information

Location

950 West 28th Avenue, Vancouver, British Columbia, Canada, V5Z 4H4

fcapon@cmmt.ubc.ca

Interleukin-36 upregulates type-I interferon responses in systemic lupus erythematosus by promoting the accumulation of self-nucleic acids

Emma J Welsh and Daniel McCluskey and Patrick Baum and Myles J Lewis and Francesca Capon

DOI: 10.1101/2025.10.20.683168

10 / 2025

IL-36 signalling promotes a proinflammatory macrophage state that is associated with reduced lipid uptake

Jillian Yong Xin Sieh and Gabriel Osborn and Sophia N. Karagiannis and Francesca Capon

DOI: 10.1101/2025.10.22.683795

10 / 2025

Mendelian randomization identifies OX40 as a potential mediator of the effects of cigarette smoking on palmoplantar pustulosis

BRITISH JOURNAL OF DERMATOLOGY

DOI: 10.1093/BJD/LJAF280

GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets

Nature Communications

Dand, N. and Stuart, P.E. and Bowes, J. and Ellinghaus, D. and Nititham, J. and Saklatvala, J.R. and Teder-Laving, M. and Thomas, L.F. and Traks, T. and Uebe, S. and Assmann, G. and Baudry, D. and Behrens, F. and Billi, A.C. and Brown, M.A. and Burkhardt, H. and Capon, F. and Chung, R. and Curtis, C.J. and Duckworth, M. and Ellinghaus, E. and FitzGerald, O. and Gerdes, S. and Griffiths, C.E.M. and Gulliver, S. and Helliwell, P.S. and Ho, P. and Hoffmann, P. and Holmen, O.L. and Huang, Z.-M. and Hveem, K. and Jadon, D. and K{\"o}hm, M. and Kraus, C. and Lamacchia, C. and Lee, S.H. and Ma, F. and Mahil, S.K. and McHugh, N. and McManus, R. and Modalsli, E.H. and Nissen, M.J. and N{\"o}then, M. and Oji, V. and Oksenberg, J.R. and Patrick, M.T. and Perez White, B.E. and Ramming, A. and Rech, J. and Rosen, C. and Sarkar, M.K. and Schett, G. and Schmidt, B. and Tejasvi, T. and Traupe, H. and Voorhees, J.J. and Wacker, E.M. and Warren, R.B. and Wasikowski, R. and Weidinger, S. and Wen, X. and Zhang, Z. and Siebert, S. and Schofield, J. and McAteer, H. and Brown, S.J. and Smith, C.H. and Burden, A.D. and Nelis, M. and Milani, L. and Metspalu, A. and Barton, A. and Chandran, V. and Esko, T. and Foerster, J. and Franke, A. and Gladman, D.D. and Gudjonsson, J.E. and Gulliver, W. and H{\"u}ffmeier, U. and Kingo, K. and K{\~o}ks, S. and Liao, W. and L?set, M. and M{\"a}gi, R. and Nair, R.P. and Rahman, P. and Reis, A. and Di Meglio, P. and Barker, J.N. and Tsoi, L.C. and Simpson, M.A. and Elder, J.T.

DOI: 10.1038/s41467-025-56719-8

Inflammatory memory in psoriasis: From remission to recurrence

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

DOI: 10.1016/J.JACI.2024.05.008

A genome-wide meta-analysis of palmoplantar pustulosis implicates Th2 responses and cigarette smoking in disease pathogenesis

Medrxiv

Hernandez-Cordero, A. and Thomas, L. and Smail, A. and Lim, Z.Q. and Saklatvala, J.R. and Chung, R. and Curtis, C.J. and Baum, P. and Visvanathan, S. and Burden, A.D. and Cooper, H.L. and Dunnill, G. and Griffiths, C.E.M. and Levell, N.J. and Parslew, R. and Reynolds, N.J. and Wahie, S. and Warren, R.B. and Wright, A. and Simpson, M. and Hveem, K. and Barker, J.N. and Dand, N. and Loset, M. and Smith, C.H. and Capon, F. and Abraham, T. and Ali, M. and August, S. and Baudry, D. and Becher, G. and Bewley, A. and Brown, V. and Cornelius, V. and Ghaffar, S. and Ingram, J. and Kavakleiva, S. and Kelly, S. and Khorshid, M. and Lachmann, H. and Ladoyanni, E. and McAteer, H. and McKenna, J. and Meynell, F. and Patel, P. and Pink, A. and Powell, K. and Pushparajah, A. and Sinclair, C. and Wachsmuth, R.

DOI: 10.1101/2024.01.17.24301406

Single-cell analysis of psoriasis resolution demonstrates an inflammatory fibroblast state targeted by IL-23 blockade

NATURE COMMUNICATIONS

DOI: 10.1038/S41467-024-44994-W

International Consensus Definition and Diagnostic Criteria for Generalized Pustular Psoriasis From the International Psoriasis Council

JAMA DERMATOLOGY

DOI: 10.1001/JAMADERMATOL.2024.0915

Cover Image

Experimental Dermatology

Siew Eng Choon and Peter Seah Keng Tok and Kit Wan Wong and Yee Ting Lim and Nalini M. Nanu and Jonathan N. Barker and Francesca Capon

DOI: 10.1111/exd.14905

08 / 2023

In Silico and In Vitro Analysis of IL36RN Alterations Reveals Critical Residues for the Function of the Interleukin-36 Receptor Complex

JOURNAL OF INVESTIGATIVE DERMATOLOGY

DOI: 10.1016/J.JID.2023.06.191

Nonadherence to systemic immune-modifying therapy in people with psoriasis during the COVID-19 pandemic: findings from a global cross-sectional survey

BRITISH JOURNAL OF DERMATOLOGY

DOI: 10.1093/BJD/LJAC144

Damaging Alleles Affecting Multiple CARD14 Domains Are Associated with Palmoplantar Pustulosis

JOURNAL OF INVESTIGATIVE DERMATOLOGY

DOI: 10.1016/J.JID.2022.07.031

A viewpoint on the genetic determinants of generalised pustular psoriasis

EXPERIMENTAL DERMATOLOGY

DOI: 10.1111/EXD.14746

Single-cell analysis of psoriasis resolution reveals an inflammatory fibroblast state targeted by IL-23 blockade

medRxiv

Francis, L. and McCluskey, D. and Ganier, C. and Jiang, T. and Du-Harpur, X. and Gabriel, J. and Dhami, P. and Kamra, Y. and Visvanathan, S. and Barker, J.N. and Smith, C.H. and Capon, F. and Mahil, S.K.

DOI: 10.1101/2023.09.11.23295356

Clinical profile of patients with acute generalized pustular psoriasis with and without IL36RN mutations in multi-ethnic Johor Bahru, Malaysia

EXPERIMENTAL DERMATOLOGY

DOI: 10.1111/EXD.14776

Development of a novel platform trial evaluating systemic therapies in adult atopic eczema with parallel mechanistic studies (BEACON and BEACONomics): a UK-wide interdisciplinary collaboration

BRITISH JOURNAL OF DERMATOLOGY

DOI: 10.1093/BJD/LJAD113.100

Are Janus kinase inhibitors an effective treatment for palmoplantar pustulosis? A critically appraised topic

BRITISH JOURNAL OF DERMATOLOGY

DOI: 10.1093/BJD/LJAC130

The interleukin 1 receptor antagonist anakinra to reduce disease severity of palmoplantar pustulosis in adults: APRICOT RCT and PLUM mechanistic study

Efficacy and Mechanism Evaluation

Suzie Cro and Victoria Cornelius and Francesca Capon and Jonathan Barker and David Burden and Christopher Griffiths and Helen Jane Lachmann and Helen McAteer and Prakash Patel and Andrew Pink and Nick Reynolds and Richard Warren and Catherine Smith

DOI: 10.3310/MXPK2427

03 / 2022

An exome wide association study identifies new genetic determinants for palmar plantar pustulosis

JOURNAL OF INVESTIGATIVE DERMATOLOGY

Sex and smoking status drive severity differences in palmoplantar pustulosis

BRITISH JOURNAL OF DERMATOLOGY

New genetic and clinical features of neonatal inflammatory skin and bowel disease 1

BRITISH JOURNAL OF DERMATOLOGY

DOI: 10.1111/BJD.21589

Anakinra for palmoplantar pustulosis: results from a randomized, double-blind, multicentre, two-staged, adaptive placebo-controlled trial (APRICOT)

BRITISH JOURNAL OF DERMATOLOGY

DOI: 10.1111/BJD.20653

The impact of the COVID-19 pandemic on people with psoriasis: an update from the PsoProtect and PsoProtectMe global registries

BRITISH JOURNAL OF DERMATOLOGY

Single-cell analysis implicates T_H17-to-T_H2 cell plasticity in the pathogenesis of palmoplantar pustulosis

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

DOI: 10.1016/J.JACI.2022.04.027

A Role for Targeted Colchicine Uptitration in Recurrent Pericarditis: A Ten- Year Experience of Treatment Refractory Disease at a Specialist Referral Center

CIRCULATION

Vaccine hesitancy and access to psoriasis care in the COVID-19 pandemic: findings from a global patient-reported cross-sectional survey

medRxiv

Bechman, K. and Cook, E.S. and Dand, N. and Yiu, Z.Z.N. and Tsakok, T. and Meynell, F. and Coker, B. and Vincent, A. and Bachelez, H. and Barbosa, I. and Brown, M.A. and Capon, F. and Contreras, C.R. and De La Cruz, C. and Di Meglio, P. and Gisondi, P. and Jullien, D. and Kelly, J. and Lambert, J. and Lancelot, C. and Langan, S.M. and Mason, K.J. and McAteer, H. and Moorhead, L. and Naldi, L. and Norton, S. and Puig, L. and Spuls, P. and Torres, T. and Urmston, D. and Vesty, A. and Warren, R.B. and Waweru, H. and Weinman, J. and Griffiths, C.E.M. and Barker, J.N. and Smith, C.H. and Galloway, J.B. and Mahil, S.K.

DOI: 10.1101/2022.01.20.22269546

Single-cell RNA sequencing reveals systemic T-cell abnormalities in palmar plantar pustulosis

BRITISH JOURNAL OF DERMATOLOGY

Differences in Clinical Features and Comorbid Burden between HLA-C*06:02 Carrier Groups in >9,000 People with Psoriasis

JOURNAL OF INVESTIGATIVE DERMATOLOGY

DOI: 10.1016/J.JID.2021.08.446

A comparative study of the thermochromic performances of VO₂ films obtained by air oxidation of V and VN precursors

SOLAR ENERGY MATERIALS AND SOLAR CELLS

DOI: 10.1016/J.SOLMAT.2022.111947

Vaccine hesitancy and access to psoriasis care during the COVID-19 pandemic: findings from a global patient-reported cross-sectional survey

BRITISH JOURNAL OF DERMATOLOGY

DOI: 10.1111/BJD.21042

Using single-cell transcriptomics to characterise early mechanisms of disease remission in psoriasis

JOURNAL OF INVESTIGATIVE DERMATOLOGY

Pericarditis and Autoinflammation: A Clinical and Genetic Analysis of Patients With Idiopathic Recurrent Pericarditis and Monogenic Autoinflammatory Diseases at a National Referral Center

JOURNAL OF THE AMERICAN HEART ASSOCIATION

DOI: 10.1161/JAHA.121.024931

Risk-mitigating behaviours in people with inflammatory skin and joint disease during the COVID-19 pandemic differ by treatment type: a cross-sectional patient survey*

British Journal of Dermatology

Mahil, S.K. and Yates, M. and Langan, S.M. and Yiu, Z.Z.N. and Tsakok, T. and Dand, N. and Mason, K.J. and McAteer, H. and Meynell, F. and Coker, B. and Vincent, A. and Urmston, D. and Vesty, A. and Kelly, J. and Lancelot, C. and Moorhead, L. and Bachelez, H. and Bruce, I.N. and Capon, F. and Contreras, C.R. and Cope, A.P. and De La Cruz, C. and Di Meglio, P. and Gisondi, P. and Hyrich, K. and Jullien, D. and Lambert, J. and Marzo-Ortega, H. and McInnes, I. and Naldi, L. and Norton, S. and Puig, L. and Sengupta, R. and Spuls, P. and Torres, T. and Warren, R.B. and Waweru, H. and Weinman, J. and Griffiths, C.E.M. and Barker, J.N. and Brown, M.A. and Galloway, J.B. and Smith, C.H.

DOI: 10.1111/bjd.19755

The impact of the COVID-19 pandemic on people with psoriasis: findings from a global patient-reported registry

BRITISH JOURNAL OF DERMATOLOGY

Anakinra for palmoplantar pustulosis: results from a randomized, double-blind, multicentre, two staged, adaptive placebo controlled trial (APRICOT)

JOURNAL OF INVESTIGATIVE DERMATOLOGY

Loss-of-function myeloperoxidase mutations are associated with increased neutrophil counts and pustular skin disease (vol 107, pg 539, 2020)

AMERICAN JOURNAL OF HUMAN GENETICS

DOI: 10.1016/J.AJHG.2021.03.001

Genetic analysis of NLRP3 in recurrent pericarditis

EUROPEAN HEART JOURNAL

Factors associated with adverse COVID-19 outcomes in patients with psoriasis"insights from a global registry"based study

Journal of Allergy and Clinical Immunology

Mahil, S.K. and Dand, N. and Mason, K.J. and Yiu, Z.Z.N. and Tsakok, T. and Meynell, F. and Coker, B. and McAteer, H. and Moorhead, L. and Mackenzie, T. and Rossi, M.T. and Rivera, R. and Mahe, E. and Carugno, A. and Magnano, M. and Rech, G. and Balogh, E.A. and Feldman, S.R. and De La Cruz, C. and Choon, S.E. and Naldi, L. and Lambert, J. and Spuls, P. and Jullien, D. and Bachelez, H. and McMahon, D.E. and Freeman, E.E. and Gisondi, P. and Puig, L. and Warren, R.B. and Di Meglio, P. and Langan, S.M. and Capon, F. and Griffiths, C.E.M. and Barker, J.N. and Smith, C.H. and Shah, A. and Barea, A. and Romero-Mat, A. and Singapore, A. and Paolino, A. and Mwale, A. and Morales Callaghan, A.M. and Martinez, A. and DeCrescenzo, A. and Pink, A.E. and Jones, A. and Sergeant, A. and Essex, A. and Bewley, A. and Makrygeorgou, A. and van Huizen, A. and Prez-Surez, B. and Farida, B. and Clarus, B.W. and Prims, C.T. and Davis, C. and Quinlan, C. and Maybury, C. and Cesar, G.A. and Barclay, C. and Greco, C. and Brassard, D. and Cummings, D. and Kolli, D. and Descamps, V. and Genao, D.R. and Carras, E. and Hawryluk, E. and Martnez-Garca, E. and Klujszo, E. and Dwyer, E. and Toni, E. and Sonkoly, E. and Loayza, E. and Daudn, E. and Valenzuela, F. and Popov, G. and King, G. and Celine, G. and Aparicio, G. and Johnston, G.A. and Cardozo, G.A. and Pearson, I. and Yanguas, I. and Weisman, J. and Carolan, J.E. and Hughes, J. and Ortiz-Salvador, J.-M. and Carrascosa, J.-M. and Schwartz, J.J. and Jackson, K. and Kerisit, K.G. and Wu, K. and Asfour, L. and de Graaf, L. and Lesort, C. and Meuleman, L. and Eidsmo, L. and Skov, L. and Gribben, L. and Rustin, M. and Velasco, M. and Panchal, M. and Lakhan, M. and Franco, M.D. and Svensson, M.-L. and Vandaele, M. and Marovt, M. and Zargari, O. and De Caso, P. and Varela, P. and Jenkin, P. and Phan, C. and Hampton, P. and Goldsmith, P. and Bak, R. and Speeckaert, R. and Romiti, R. and Woolf, R. and Mercado-Seda, R. and Khatun, R. and Ceovic, R. and Taberner, R. and Cohen, R.W. and Stefanescu, S. and Kirk, S. and Reeken, S. and Ayob, S. and Prez-Barrio, S. and Piaserico, S. and Hoey, S. and Torres, T. and Talme, T. and Desai, T.V. and van Geest, A.J. and King, V. and Di Lernia, V. and Koreja, Z. and Hasab, V.Z.

DOI: 10.1016/j.jaci.2020.10.007

Describing the burden of the COVID-19 pandemic in people with psoriasis: findings from a global cross-sectional study

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY

DOI: 10.1111/JDV.17450

International Rare and Severe Psoriasis Expert Network (IRASPEN) - A prospective multi-centre pustular psoriasis registry with genotype-phenotype correlation

JOURNAL OF INVESTIGATIVE DERMATOLOGY

Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease

American Journal of Human Genetics

Vergnano, M. and Mockenhaupt, M. and Benzian-Olsson, N. and Paulmann, M. and Grys, K. and Mahil, S.K. and Chaloner, C. and Barbosa, I.A. and August, S. and Burden, A.D. and Choon, S.-E. and Cooper, H. and Navarini, A.A. and Reynolds, N.J. and Wahie, S. and Warren, R.B. and Wright, A. and Abraham, T. and Ali, M. and Baudry, D. and Bewley, A. and Ingram, J. and Kelly, S. and Korshid, M. and Ladoyanni, E. and McKenna, J. and Meynell, F. and Parslew, R. and Patel, P. and Pushparajah, A. and Reynolds, N. and Smith, C. and Warren, R. and Huffmeier, U. and Baum, P. and Visvanathan, S. and Barker, J.N. and Smith, C.H. and Capon, F.

DOI: 10.1016/j.ajhg.2020.06.020

Psoriasis and genetics

Acta Dermato-Venereologica

Dand, N. and Mahil, S.K. and Capon, F. and Smith, C.H. and Simpson, M.A. and Barker, J.N.

DOI: 10.2340/00015555-3384

A randomised placebo controlled trial of anakinra for treating pustular psoriasis: Statistical analysis plan for stage two of the APRICOT trial

Trials

Cro, S. and Patel, P. and Barker, J. and Burden, D.A. and Griffiths, C.E.M. and Lachmann, H.J. and Reynolds, N.J. and Warren, R.B. and Capon, F. and Smith, C. and Cornelius, V.

DOI: 10.1186/s13063-020-4103-z

Factors associated with hospitalization due to COVID-19 in patients with psoriasis: insights from a global registry

BRITISH JOURNAL OF DERMATOLOGY

Association of clinical and demographic factors with the severity of palmoplantar pustulosis

JAMA Dermatology

Benzian-Olsson, N. and Dand, N. and Chaloner, C. and Bata-Csorgo, Z. and Borroni, R. and David Burden, A. and Cooper, H.L. and Cornelius, V. and Cro, S. and Dasandi, T. and Griffiths, C.E.M. and Kingo, K. and Koks, S. and Lachmann, H. and McAteer, H. and Meynell, F. and Mrowietz, U. and Parslew, R. and Patel, P. and Pink, A.E. and Reynolds, N.J. and Tanew, A. and Torz, K. and Trattner, H. and Wahie, S. and Warren, R.B. and Wright, A. and Barker, J.N. and Navarini, A.A. and Smith, C.H. and Capon, F.

DOI: 10.1001/jamadermatol.2020.3275

IL-36 Promotes Systemic IFN-I Responses in Severe Forms of Psoriasis

Journal of Investigative Dermatology

Catapano, M. and Vergnano, M. and Romano, M. and Mahil, S.K. and Choon, S.-E. and Burden, A.D. and Young, H.S. and Carr, I.M. and Lachmann, H.J. and Lombardi, G. and Smith, C.H. and Ciccarelli, F.D. and Barker, J.N. and Capon, F.

DOI: 10.1016/j.jid.2019.08.444

Global reporting of cases of COVID-19 in psoriasis and atopic dermatitis: an opportunity to inform care during a pandemic

British Journal of Dermatology

Mahil, S.K. and Yiu, Z.Z.N. and Mason, K.J. and Dand, N. and Coker, B. and Wall, D. and Fletcher, G. and Bosma, A. and Capon, F. and Iversen, L. and Langan, S.M. and Di Meglio, P. and Musters, A.H. and Prieto-Merino, D. and Tsakok, T. and Warren, R.B. and Flohr, C. and Spuls, P.I. and Griffiths, C.E.M. and Barker, J. and Irvine, A.D. and Smith, C.H.

DOI: 10.1111/bjd.19161

Coding variants of the CARD14 NF-kB adaptor are associated with palmar plantar pustulosis

EUROPEAN JOURNAL OF HUMAN GENETICS

Risk mitigating behaviours in people with inflammatory joint and skin disease during the COVID-19 pandemic differ by treatment type: A cross-sectional patient survey

medRxiv

Mahil, S.K. and Yates, M. and Langan, S.M. and Yiu, Z.Z.N. and Tsakok, T. and Dand, N. and Mason, K.J. and McAteer, H. and Meynell, F. and Coker, B. and Vincent, A. and Urmston, D. and Vesty, A. and Kelly, J. and Lancelot, C. and Moorhead, L. and Bachelez, H. and Bruce, I.N. and Capon, F. and Contreras, C.R. and Cope, A.P. and de la Cruz, C. and Di Meglio, P. and Gisondi, P. and Hyrich, K. and Jullien, D. and Lambert, J. and Waweru, H. and Marzo-Ortega, H. and McKinnes, I. and Naldi, L. and Norton, S. and Puig, L. and Sengupta, R. and Spuls, P. and Torres, T. and Warren, R.B. and Weinman, J. and Griffiths, C.M. and Barker, J.N. and Brown, M.A. and Galloway, J.B. and Smith, C.H.

DOI: 10.1101/2020.11.05.20226662

CARD14 variants are associated with palmar plantar pustulosis

JOURNAL OF INVESTIGATIVE DERMATOLOGY

DOI: 10.1016/J.JID.2019.07.282

Sex and Smoke-Related Differences in the Severity of Palmoplantar Pustulosis

JOURNAL OF INVESTIGATIVE DERMATOLOGY

DOI: 10.1016/J.JID.2019.07.154

Pustular Forms of Psoriasis Related to Autoinflammation

Textbook of Autoinflammation

Mahil, S.K. and Barker, J.N. and Capon, F.

DOI: 10.1007/978-3-319-98605-0_26

Early-onset generalized pustular psoriasis is representative of autoinflammatory keratinization diseases Reply

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

DOI: 10.1016/J.JACI.2018.11.010

Clinical and genetic differences between pustular psoriasis subtypes

Journal of Allergy and Clinical Immunology

Twelves, S. and Mostafa, A. and Dand, N. and Burri, E. and Farkas, K. and Wilson, R. and Cooper, H.L. and Irvine, A.D. and Oon, H.H. and Kingo, K. and Kks, S. and Mrowietz, U. and Puig, L. and Reynolds, N. and Tan, E.S.-T. and Tanew, A. and Torz, K. and Trattner, H. and Valentine, M. and Wahie, S. and Warren, R.B. and Wright, A. and Bata-Csrg?, Z. and Szell, M. and Griffiths, C.E.M. and Burden, A.D. and Choon, S.-E. and Smith, C.H. and Barker, J.N. and Navarini, A.A. and Capon, F.

DOI: 10.1016/j.jaci.2018.06.038

A small population, randomised, placebo-controlled trial to determine the efficacy of anakinra in the treatment of pustular psoriasis: Study protocol for the APRICOT trial

Trials

Cornelius, V. and Wilson, R. and Cro, S. and Barker, J. and Burden, D. and Griffiths, C.E.M. and Lachmann, H. and McAteer, H. and Reynolds, N. and Pink, A. and Warren, R.B. and Capon, F. and Smith, C.

DOI: 10.1186/s13063-018-2841-y

The heterogeneous mutational landscape of pustular psoriasis

British Journal of Dermatology

Capon, F.

DOI: 10.1111/bjd.16257

Features of pustular psoriasis observed in 863 patients: Clinical and genetic analysis of a multi-ethnic cohort

JOURNAL OF INVESTIGATIVE DERMATOLOGY

DOI: 10.1016/J.JID.2018.03.323

Interleukin-36 promotes systemic Type-I IFN responses in severe psoriasis

bioRxiv

DOI: 10.1101/496851

An investigation of the molecular pathogenesis of generalized pustular psoriasis through neutrophil RNAseq

BRITISH JOURNAL OF DERMATOLOGY

An investigation of the molecular pathogenesis of Generalized Pustular Psoriasis and its overlap with Psoriasis Vulgaris

JOURNAL OF INVESTIGATIVE DERMATOLOGY

DOI: 10.1016/J.JID.2017.07.524

European consensus statement on phenotypes of pustular psoriasis

Journal of the European Academy of Dermatology and Venereology

Navarini, A.A. and Burden, A.D. and Capon, F. and Mrowietz, U. and Puig, L. and Kks, S. and Kingo, K. and Smith, C. and Barker, J.N. and Bachelez, H. and Chiricozzi, A. and Costanzo, A. and Eyerich, K. and French, L.E. and Ghoreschi, K. and Gilliet, M. and Girolomoni, G. and Gniadecki, R. and Griffiths, C. and Koh, H.Y. and Lipsker, D. and Naldi, L. and Prans, E. and Prinz, J. and Reich, K. and Rcken, M. and Skov, L. and Sorin, G. and St?hle, M. and Stingl, G. and Van de Kerkhof, P. and Warren, R.

DOI: 10.1111/jdv.14386

Juvenile generalized pustular psoriasis is a chronic recalcitrant disease: an analysis of 27 patients seen in a tertiary hospital in Johor, Malaysia

International Journal of Dermatology

Lau, B.-W. and Lim, D.-Z. and Capon, F. and Barker, J.N. and Choon, S.-E.

DOI: 10.1111/ijd.13489

An analysis of IL-36 signature genes and individuals with IL1RL2 knockout mutations validates IL-36 as a psoriasis therapeutic target

Science Translational Medicine

Mahil, S.K. and Catapano, M. and Di Meglio, P. and Dand, N. and Ahlfors, H. and Carr, I.M. and Smith, C.H. and Trembath, R.C. and Peakman, M. and Wright, J. and Ciccarelli, F.D. and Barker, J.N. and Capon, F.

DOI: 10.1126/scitranslmed.aan2514

The genetic basis of psoriasis

International Journal of Molecular Sciences

Capon, F.

DOI: 10.3390/ijms18122526

Preliminary therapeutic target validation of the IL-36 receptor in psoriasis

JOURNAL OF INVESTIGATIVE DERMATOLOGY

DOI: 10.1016/J.JID.2017.07.200

A transcriptomic study investigating the pathogenesis of generalized pustular psoriasis

BRITISH JOURNAL OF DERMATOLOGY

Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling

Human Molecular Genetics

Dand, N. and Mucha, S. and Tsoi, L.C. and Mahil, S.K. and Stuart, P.E. and Arnold, A. and Baurecht, H. and Burden, A.D. and Duffin, K.C. and Chandran, V. and Curtis, C.J. and Das, S. and Ellinghaus, D. and Ellinghaus, E. and Enerback, C. and Esko, T. and Gladman, D.D. and Griffiths, C.E.M. and Gudjonsson, J.E. and Hoffman, P. and Homuth, G. and Hffmeier, U. and Krueger, G.G. and Laudes, M. and Lee, S.H. and Lieb, W. and Lim, H.W. and Lhr, S. and Mrowietz, U. and Mller-Nurayid, M. and Nthen, M. and Peters, A. and Rahman, P. and Reis, A. and Reynolds, N.J. and Rodriguez, E. and Schmidt, C.O. and Spain, S.L. and Strauch, K. and Tejasvi, T. and Voorhees, J.J. and Warren, R.B. and Weichenthal, M. and Weidinger, S. and Zawistowski, M. and Nair, R.P. and Capon, F. and Smith, C.H. and Trembath, R.C. and Abecasis, G.R. and Elder, J.T. and Franke, A. and Simpson, M.A. and Barker, J.N.

DOI: 10.1093/hmg/ddx328

The genetic analysis of a large pustular psoriasis resource highlights differential effects for IL36RN and AP1S3 mutations

BRITISH JOURNAL OF DERMATOLOGY

Preliminary validation of the IL-36 receptor as a target in psoriasis treatment

JOURNAL OF INVESTIGATIVE DERMATOLOGY

DOI: 10.1016/J.JID.2017.07.046

First report of digenic inheritance in pustular psoriasis

JOURNAL OF INVESTIGATIVE DERMATOLOGY

DOI: 10.1016/J.JID.2016.06.174

AP1S3 mutations cause cutaneous autoinflammation by disrupting autophagy and up-regulating IL-36 production in keratinocytes

JOURNAL OF INVESTIGATIVE DERMATOLOGY

DOI: 10.1016/J.JID.2016.06.294

Genome-Wide Pathway Analysis Identifies Genetic Pathways Associated with Psoriasis

Journal of Investigative Dermatology

Aterido, A. and Juli, A. and Ferrndiz, C. and Puig, L. and Fonseca, E. and Fernndez-Lpez, E. and Dauden, E. and Snchez-Carazo, J.L. and Lpez-Estebaranz, J.L. and Moreno-Ramrez, D. and Vanaclocha, F. and Herrera, E. and de la Cueva, P. and Dand, N. and Palau, N. and Alonso, A. and Lpez-Lasanta, M. and Tortosa, R. and Garca-Montero, A. and Cod, L. and Gelp, J.L. and Bertranpetit, J. and Absher, D. and Capon, F. and Myers, R.M. and Barker, J.N. and Marsal, S.

DOI: 10.1016/j.jid.2015.11.026

AP1S3 Mutations Cause Skin Autoinflammation by Disrupting Keratinocyte Autophagy and Up-Regulating IL-36 Production

Journal of Investigative Dermatology

Mahil, S.K. and Twelves, S. and Farkas, K. and Setta-Kaffetzi, N. and Burden, A.D. and Gach, J.E. and Irvine, A.D. and Kpr, L. and Mockenhaupt, M. and Oon, H.H. and Pinner, J. and Ranki, A. and Seyger, M.M.B. and Soler-Palacin, P. and Storan, E.R. and Tan, E.S. and Valeyrie-Allanore, L. and Young, H.S. and Trembath, R.C. and Choon, S.-E. and Szell, M. and Bata-Csorgo, Z. and Smith, C.H. and Di Meglio, P. and Barker, J.N. and Capon, F.

DOI: 10.1016/j.jid.2016.06.618

Update on psoriasis immunopathogenesis and targeted immunotherapy

Seminars in Immunopathology

Mahil, S.K. and Capon, F. and Barker, J.N.

DOI: 10.1007/s00281-015-0539-8

Gene identification in pustular psoriasis

BRITISH JOURNAL OF DERMATOLOGY

Activating CARD14 mutations are associated with generalized pustular psoriasis but rarely account for familial recurrence in psoriasis vulgaris

Journal of Investigative Dermatology

Berki, D.M. and Liu, L. and Choon, S.-E. and Burden, A.D. and Griffiths, C.E.M. and Navarini, A.A. and Tan, E.S. and Irvine, A.D. and Ranki, A. and Ogo, T. and Petrof, G. and Mahil, S.K. and Duckworth, M. and Allen, M.H. and Vito, P. and Trembath, R.C. and McGrath, J. and Smith, C.H. and Capon, F. and Barker, J.N.

DOI: 10.1038/jid.2015.288

Genetic analysis of CARD14 mutations in an extended pustular psoriasis resource

BRITISH JOURNAL OF DERMATOLOGY

The aryl hydrocarbon receptor (AhR) pathway in psoriasis: linking environmental factors with genetic susceptibility

BRITISH JOURNAL OF DERMATOLOGY

Rare protein-coding variants in IL36/ and lack of HLA asssociation in acute generalized exanthematous pustulosis

JOURNAL OF INVESTIGATIVE DERMATOLOGY

IL36RN mutations define a severe autoinflammatory phenotype of generalized pustular psoriasis: To the editor

Journal of Allergy and Clinical Immunology

Hussain, S. and Berki, D.M. and Choon, S.-E. and Burden, A.D. and Allen, M.H. and Arostegui, J.I. and Chaves, A. and Duckworth, M. and Irvine, A.D. and Mockenhaupt, M. and Navarini, A.A. and Seyger, M.M.B. and Soler-Palacin, P. and Prins, C. and Valeyrie-Allanore, L. and Vicente, M.A. and Trembath, R.C. and Smith, C.H. and Barker, J.N. and Capon, F.

DOI: 10.1016/j.jaci.2014.09.043

Genetics of Psoriasis

Dermatologic Clinics

Mahil, S.K. and Capon, F. and Barker, J.N.

DOI: 10.1016/j.det.2014.09.001

Enhanced meta-analysis and replication studies identify five new psoriasis susceptibility loci

Nature Communications

Tsoi, L.C. and Spain, S.L. and Ellinghaus, E. and Stuart, P.E. and Capon, F. and Knight, J. and Tejasvi, T. and Kang, H.M. and Allen, M.H. and Lambert, S. and Stoll, S.W. and Weidinger, S. and Gudjonsson, J.E. and Koks, S. and Kingo, K. and Esko, T. and Das, S. and Metspalu, A. and Weichenthal, M. and Enerback, C. and Krueger, G.G. and Voorhees, J.J. and Chandran, V. and Rosen, C.F. and Rahman, P. and Gladman, D.D. and Reis, A. and Nair, R.P. and Franke, A. and Barker, J.N.W.N. and Abecasis, G.R. and Trembath, R.C. and Elder, J.T.

DOI: 10.1038/ncomms8001

Characterization of a new pustular psoriasis gene

BRITISH JOURNAL OF DERMATOLOGY

IL36RN mutations define a severe, early-onset subtype of generalized pustular psoriasis

BRITISH JOURNAL OF DERMATOLOGY

Generalized pustular eruptions: Time to adapt the disease taxonomy to the genetic architecture?

Journal of Investigative Dermatology

Navarini, A.A. and Valeyrie-Allanore, L. and Setta-Kaffetzi, N. and Barker, J.N. and Capon, F. and Creamer, D. and Roujeau, J.-C. and Sekula, P. and Simpson, M.A. and Trembath, R.C. and Mockenhaupt, M. and Smith, C.H.

DOI: 10.1038/jid.2013.349

Enhanced meta-analysis and replication studies identify five psoriasis susceptibility loci

BRITISH JOURNAL OF DERMATOLOGY

The p.Asp176His CARD14 variant is associated with generalized pustular psoriasis presenting with concurrent psoriasis vulgaris

BRITISH JOURNAL OF DERMATOLOGY

Loss of IL36RN function does not confer susceptibility to psoriasis vulgaris

Journal of Investigative Dermatology

Berki, D.M. and Mahil, S.K. and David Burden, A. and Trembath, R.C. and Smith, C.H. and Capon, F. and Barker, J.N.

DOI: 10.1038/jid.2013.285

AP1S3 mutations are associated with pustular psoriasis and impaired toll-like receptor 3 trafficking

American Journal of Human Genetics

Setta-Kaffetzi, N. and Simpson, M.A. and Navarini, A.A. and Patel, V.M. and Lu, H.-C. and Allen, M.H. and Duckworth, M. and Bachelez, H. and Burden, A.D. and Choon, S.-E. and Griffiths, C.E.M. and Kirby, B. and Kolios, A. and Seyger, M.M.B. and Prins, C. and Smahi, A. and Trembath, R.C. and Fraternali, F. and Smith, C.H. and Barker, J.N. and Capon, F.

DOI: 10.1016/j.ajhg.2014.04.005

Deleterious AP1S3 alleles are associated with pustular psoriasis but not plaque psoriasis

JOURNAL OF INVESTIGATIVE DERMATOLOGY

IL36RN mutations in generalized pustular psoriasis: Just the tip of the iceberg

Journal of Investigative Dermatology

Capon, F.

DOI: 10.1038/jid.2013.361

Rare pathogenic variants in IL36RN underlie a spectrum of psoriasis-associated pustular phenotypes

Journal of Investigative Dermatology

Setta-Kaffetzi, N. and Navarini, A.A. and Patel, V.M. and Pullabhatla, V. and Pink, A.E. and Choon, S.-E. and Allen, M.A. and Burden, A.D. and Griffiths, C.E.M. and Seyger, M.M.B. and Kirby, B. and Trembath, R.C. and Simpson, M.A. and Smith, C.H. and Capon, F. and Barker, J.N.

DOI: 10.1038/jid.2012.490

Rare variations in IL36RN in severe adverse drug reactions manifesting as acute generalized exanthematous pustulosis

Journal of Investigative Dermatology

DOI: 10.1038/jid.2013.44

Negligible impact of rare autoimmune-locus coding-region variants on missing heritability

Nature

Hunt, K.A. and Mistry, V. and Bockett, N.A. and Ahmad, T. and Ban, M. and Barker, J.N. and Barrett, J.C. and Blackburn, H. and Brand, O. and Burren, O. and Capon, F. and Compston, A. and Gough, S.C.L. and Jostins, L. and Kong, Y. and Lee, J.C. and Lek, M. and MacArthur, D.G. and Mansfield, J.C. and Mathew, C.G. and Mein, C.A. and Mirza, M. and Nutland, S. and Onengut-Gumuscu, S. and Papouli, E. and Parkes, M. and Rich, S.S. and Sawcer, S. and Satsangi, J. and Simmonds, M.J. and Trembath, R.C. and Walker, N.M. and Wozniak, E. and Todd, J.A. and Simpson, M.A. and Plagnol, V. and Van Heel, D.A.

DOI: 10.1038/nature12170

An in-depth characterization of the major psoriasis susceptibility locus identifies candidate susceptibility alleles within an HLA-C enhancer element.

PloS one

Clop, A. and Bertoni, A. and Spain, S.L. and Simpson, M.A. and Pullabhatla, V. and Tonda, R. and Hundhausen, C. and Di Meglio, P. and De Jong, P. and Hayday, A.C. and Nestle, F.O. and Barker, J.N. and Bell, R.J. and Capon, F. and Trembath, R.C.

DOI: 10.1371/journal.pone.0071690

The genetic analysis of IL36RN differentiates pustular psoriasis from psoriasis vulgaris

JOURNAL OF INVESTIGATIVE DERMATOLOGY

Psoriasis and other complex trait dermatoses: From loci to functional pathways

Journal of Investigative Dermatology

Capon, F. and Burden, A.D. and Trembath, R.C. and Barker, J.N.

DOI: 10.1038/jid.2011.395

Allele-specific cytokine responses at the HLA-C locus: Implications for psoriasis

Journal of Investigative Dermatology

Hundhausen, C. and Bertoni, A. and Mak, R.K. and Botti, E. and Di Meglio, P. and Clop, A. and Laggner, U. and Chimenti, S. and Hayday, A.C. and Barker, J.N. and Trembath, R.C. and Capon, F. and Nestle, F.O.

DOI: 10.1038/jid.2011.378

Identification of rare, disease-associated variants in the promoter region of the RNF114 psoriasis susceptibility gene

Journal of Investigative Dermatology

Onoufriadis, A. and Simpson, M.A. and Burden, A.D. and Barker, J.N. and Trembath, R.C. and Capon, F.

DOI: 10.1038/jid.2011.431

The quest for psoriasis susceptibility genes in the postgenome-wide association studies era: Charting the road ahead

British Journal of Dermatology

Capon, F. and Barker, J.N.W.N.

DOI: 10.1111/j.1365-2133.2012.10895.x

Conditional analysis identifies three novel major histocompatibility complex loci associated with psoriasis

Human Molecular Genetics

Knight, J. and Spain, S.L. and Capon, F. and Hayday, A. and Nestle, F.O. and Clop, A. and Barker, J.N. and Weale, M.E. and Trembath, R.C.

DOI: 10.1093/hmg/dds344

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity

Nature Genetics

Tsoi, L.C. and Spain, S.L. and Knight, J. and Ellinghaus, E. and Stuart, P.E. and Capon, F. and Ding, J. and Li, Y. and Tejasvi, T. and Gudjonsson, J.E. and Kang, H.M. and Allen, M.H. and McManus, R. and Novelli, G. and Samuelsson, L. and Schalkwijk, J. and St?hle, M. and Burden, A.D. and Smith, C.H. and Cork, M.J. and Estivill, X. and Bowcock, A.M. and Krueger, G.G. and Weger, W. and Worthington, J. and Tazi-Ahnini, R. and Nestle, F.O. and Hayday, A. and Hoffmann, P. and Winkelmann, J. and Wijmenga, C. and Langford, C. and Edkins, S. and Andrews, R. and Blackburn, H. and Strange, A. and Band, G. and Pearson, R.D. and Vukcevic, D. and Spencer, C.C.A. and Deloukas, P. and Mrowietz, U. and Schreiber, S. and Weidinger, S. and Koks, S. and Kingo, K. and Esko, T. and Metspalu, A. and Lim, H.W. and Voorhees, J.J. and Weichenthal, M. and Wichmann, H.E. and Chandran, V. and Rosen, C.F. and Rahman, P. and Gladman, D.D. and Griffiths, C.E.M. and Reis, A. and Kere, J. and Nnair, R.P. and Franke, A. and Barker, J.N. and Abecasis, G.R. and Eelder, J.T. and Ttrembath, R. and Duffin, K.C. and Helms, C. and Goldgar, D. and Paschall, J. and Malloy, M.J. and Pullinger, C.R. and Kane, J.P. and Gardner, J. and Perlmutter, A. and Miner, A. and Feng, B.J. and Hiremagalore, R. and Ike, R.W. and Christophers, E. and Henseler, T. and Ruether, A. and Schrodi, S.J. and Prahalad, S. and Guthery, S.L. and Fischer, J. and Liao, W. and Kwok, P. and Menter, A. and Lathrop, G.M. and Wise, C. and Begovich, A.B. and Onoufriadis, A. and Weale, M.E. and Hofer, A. and Salmhofer, W. and Wolf, P. and Kainu, K. and Saarialho-Kere, U. and Suomela, S. and Badorf, P. and Hffmeier, U. and Kurrat, W. and Kster, W. and Lascorz, J. and Mssner, R. and Schrmeier-Horst, F. and Stnder, M. and Traupe, H. and Bergboer, J.G.M. and Heijer, M.D. and Van De Kerkhof, P.C. and Zeeuwen, P.L.J.M. and Barnes, L. and Campbell, L.E. and Cusack, C. and Coleman, C. and Conroy, J. and Ennis, S. and Fitzgerald, O. and Gallagher, P. and Irvine, A.D. and Kirby, B. and Markham, T. and McLean, W.H.I. and McPartlin, J. and Rogers, S.F. and Ryan, A.W. and Zawirska, A. and Giardina, E. and Lepre, T. and Perricone, C. and Martn-Ezquerra, G. and Pujol, R.M. and Riveira-Munoz, E. and Inerot, A. and Naluai, ?.T. and Mallbris, L. and Wolk, K. and Leman, J. and Barton, A. and Warren, R.B. and Young, H.S. and Ricano-Ponce, I. and Trynka, G. and Pellett, F.J. and Henschel, A. and Aurand, M. and Bebo, B. and Gieger, C. and Illig, T. and Moebus, S. and Jckel, K.-H. and Erbel, R. and Donnelly, P. and Peltonen, L. and Blackwell, J.M. and Bramon, E. and Brown, M.A. and Casas, J.P. and Corvin, A. and Craddock, N. and Duncanson, A. and Jankowski, J. and Markus, H.S. and Mathew, C.G. and McCarthy, M.I. and Palmer, C.N.A. and Plomin, R. and Rautanen, A. and Sawcer, S.J. and Samani, N. and Viswanathan, A.C. and Wood, N.W. and Bellenguez, C. and Freeman, C. and Hellenthal, G. and Giannoulatou, E. and Pirinen, M. and Su, Z. and Hunt, S.E. and Gwilliam, R. and Bumpstead, S.J. and Dronov, S. and Gillman, M. and Gray, E. and Hammond, N. and Jayakumar, A. and McCann, O.T. and Liddle, J. and Perez, M.L. and Potter, S.C. and Ravindrarajah, R. and Ricketts, M. and Waller, M. and Weston, P. and Widaa, S. and Whittaker, P. and Neir, R.P. and Elder, J.T. and Trembath, R.C.

DOI: 10.1038/ng.2467

Exome sequencing identifies rare recessive IL1F5 variants in generalized pustular psoriasis

BRITISH JOURNAL OF DERMATOLOGY

The IL23R R381Q gene variant protects against immune-mediated diseases by impairing IL-23-induced Th17 effector response in humans

PLoS ONE

Di Meglio, P. and Di Cesare, A. and Laggner, U. and Chu, C.-C. and Napolitano, L. and Villanova, F. and Tosi, I. and Capon, F. and Trembath, R.C. and Peris, K. and Nestle, F.O.

DOI: 10.1371/journal.pone.0017160

Identification of recessive IL1F5 mutations in Generalised Pustular Psoriasis (GPP)

JOURNAL OF INVESTIGATIVE DERMATOLOGY

Functional characterization of the regulatory mechanisms controlling HLA-C expression in psoriasis

BRITISH JOURNAL OF DERMATOLOGY

Characterisation of rare variants in the RNF114 psoriasis susceptibility gene

JOURNAL OF INVESTIGATIVE DERMATOLOGY

Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis

American Journal of Human Genetics

Onoufriadis, A. and Simpson, M.A. and Pink, A.E. and Di Meglio, P. and Smith, C.H. and Pullabhatla, V. and Knight, J. and Spain, S.L. and Nestle, F.O. and Burden, A.D. and Capon, F. and Trembath, R.C. and Barker, J.N.

DOI: 10.1016/j.ajhg.2011.07.022

Meta-analysis confirms the LCE3C-LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6

Journal of Investigative Dermatology

Riveira-Munoz, E. and He, S.-M. and Escarams, G. and Stuart, P.E. and Hffmeier, U. and Lee, C. and Kirby, B. and Oka, A. and Giardina, E. and Liao, W. and Bergboer, J. and Kainu, K. and De Cid, R. and Munkhbat, B. and Zeeuwen, P.L.J.M. and Armour, J.A.L. and Poon, A. and Mabuchi, T. and Ozawa, A. and Zawirska, A. and Burden, A.D. and Barker, J.N. and Capon, F. and Traupe, H. and Sun, L.-D. and Cui, Y. and Yin, X.-Y. and Chen, G. and Lim, H.W. and Nair, R.P. and Voorhees, J.J. and Tejasvi, T. and Pujol, R. and Munkhtuvshin, N. and Fischer, J. and Kere, J. and Schalkwijk, J. and Bowcock, A. and Kwok, P.-Y. and Novelli, G. and Inoko, H. and Ryan, A.W. and Trembath, R.C. and Reis, A. and Zhang, X.-J. and Elder, J.T. and Estivill, X.

DOI: 10.1038/jid.2010.350

The IL23R R381Q gene variant protects against psoriasis by impairing IL-23-induced STAT-3 phosphorylation and IL-17A production in human Th17 cells

BRITISH JOURNAL OF DERMATOLOGY

Genetic and functional characterization of the RNF114 psoriasis susceptibility gene suggests a pathogenic role for the dysregulation of innate antiviral immunity

BRITISH JOURNAL OF DERMATOLOGY

Functional analysis of the RNF114 psoriasis susceptibility gene implicates innate immune responses to double-stranded RNA in disease pathogenesis

Human Molecular Genetics

Bijlmakers, M. and Kanneganti, S.K. and Barker, J.N. and Trembath, R.C. and Capon, F.

DOI: 10.1093/hmg/ddr215

Genome-wide linkage analysis of an extended psoriasis pedigree

BRITISH JOURNAL OF DERMATOLOGY

Functional analysis of the psoriasis, Crohn's disease and ankylosing spondylitis associated protective R381Q IL23R gene variant reveals impaired Th17 response in humans

IMMUNOLOGY

A genome-wide asociation study identifies new psoriasis susceptibility loci and an interaction betwEn HLA-C and ERAP1

Nature Genetics

Strange, A. and Capon, F. and Spencer, C.C.A. and Knight, J. and Weale, M.E. and Allen, M.H. and Barton, A. and Band, G. and Bellenguez, C. and Bergboer, J.G.M. and BlackweL, J.M. and Bramon, E. and Bumpstead, S.J. and Casas, J.P. and Cork, M.J. and Corvin, A. and Deloukas, P. and Dilthey, A. and Duncanson, A. and Edkins, S. and EstiviL, X. and Fitzgerald, O. and FrEman, C. and Giardina, E. and Gray, E. and Hofer, A. and Hffmeier, U. and Hunt, S.E. and Irvine, A.D. and Jankowski, J. and Kirby, B. and Langford, C. and Lascorz, J. and Leman, J. and Leslie, S. and MaLbris, L. and Markus, H.S. and Mathew, C.G. and McLean, W.H.I. and McManus, R. and MSner, R. and Moutsianas, L. and Naluai, A.T. and Nestle, F.O. and NoveLi, G. and Onoufriadis, A. and Palmer, C.N.A. and Perricone, C. and Pirinen, M. and Plomin, R. and PoTer, S.C. and Pujol, R.M. and Rautanen, A. and Riveira-Munoz, E. and Ryan, A.W. and Salmhofer, W. and SamuelSon, L. and Sawcer, S.J. and Schalkwijk, J. and Smith, C.H. and St?hle, M. and Su, Z. and Tazi-Ahnini, R. and Traupe, H. and Viswanathan, A.C. and Warren, R.B. and Weger, W. and Wolk, K. and WOd, N. and Worthington, J. and Young, H.S. and Zeeuwen, P.L.J.M. and Hayday, A. and Burden, A.D. and Griffiths, C.E.M. and Kere, J. and Reis, A. and McVean, G. and Evans, D.M. and Brown, M.A. and Barker, J.N. and Peltonen, L. and Donely, P. and Trembath, R.C.

DOI: 10.1038/ng.694

Novel insights into expression and regulation of HLA-Cw*0602 in psoriasis

IMMUNOLOGY

Copy number variation involving the late cornified envelope gene cluster from the epidermal differentiation complex is associated with psoriasis susceptibility

BRITISH JOURNAL OF DERMATOLOGY

Differential contribution of CDKAL1 variants to psoriasis, Crohn's disease and type II diabetes

Genes and Immunity

Quaranta, M. and Burden, A.D. and Griffiths, C.E.M. and Worthington, J. and Barker, J.N. and Trembath, R.C. and Capon, F.

DOI: 10.1038/gene.2009.51

Genetic analysis of desmoglein 3 (DSG3) sequence variants in patients with pemphigus vulgaris

BRITISH JOURNAL OF DERMATOLOGY

Genetic analysis of desmoglein 3 (DSG3) sequence variants in patients with pemphigus vulgaris

British Journal of Dermatology

Capon, F. and Boulding, H. and Quaranta, M. and Mortimer, N.J. and Setterfield, J.F. and Black, M.M. and Trembath, R.C. and Harman, K.E.

DOI: 10.1111/j.1365-2133.2009.09429.x

CDKAL1, a possible genetic link between Crohn's disease, psoriasis and type 2 diabetes

BRITISH JOURNAL OF DERMATOLOGY

Characterization of promoter elements regulating the expression of the psoriasis susceptibility allele HLA-Cw*0602

JOURNAL OF INVESTIGATIVE DERMATOLOGY

Preliminary Characterization of the RNF114/ZNF313 Psoriasis Susceptibility Gene

CLINICAL IMMUNOLOGY

DOI: 10.1016/J.CLIM.2009.03.279

Genome-wide High-Density SNP-Based Linkage Analysis of Infantile Hypertrophic Pyloric Stenosis Identifies Loci on Chromosomes 11q14-q22 and Xq23

American Journal of Human Genetics

Everett, K.V. and Chioza, B.A. and Georgoula, C. and Reece, A. and Capon, F. and Parker, K.A. and Cord-Udy, C. and McKeigue, P. and Mitton, S. and Pierro, A. and Puri, P. and Mitchison, H.M. and Chung, E.M.K. and Gardiner, R.M.

DOI: 10.1016/j.ajhg.2007.12.023

Psoriasis is associated with pleiotropic susceptibility loci identified in type II diabetes and Crohn disease

Journal of Medical Genetics

Wolf, N. and Quaranta, M. and Prescott, N.J. and Allen, M. and Smith, R. and Burden, A.D. and Worthington, J. and Griffiths, C.E.M. and Mathew, C.G. and Barker, J.N. and Capon, F. and Trembath, R.C.

DOI: 10.1136/jmg.2007.053595

Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24

European Journal of Human Genetics

Everett, K.V. and Capon, F. and Georgoula, C. and Chioza, B.A. and Reece, A. and Jaswon, M. and Pierro, A. and Puri, P. and Gardiner, R.M. and Chung, E.M.K.

DOI: 10.1038/ejhg.2008.86

Genetic and functional evidence for a role of the interleukin 23 pathway in the pathogenesis of psoriasis

BRITISH JOURNAL OF DERMATOLOGY

Further evidence for shared genetic architecture between psoriasis and Crohn's disease

JOURNAL OF MEDICAL GENETICS

Shared genetic determinants between psoriasis, Crohn's disease and diabetes

JOURNAL OF INVESTIGATIVE DERMATOLOGY

Pleiotropic susceptibility loci identified in psoriasis, type II diabetes and Crohn's disease

CLINICAL IMMUNOLOGY

DOI: 10.1016/J.CLIM.2008.03.400

Analysis of IL12B and IL23R alleles in clinical variants of psoriasis

BRITISH JOURNAL OF DERMATOLOGY

Characterization of ZNF313/RNF114 as a novel psoriasis susceptibility gene

BRITISH JOURNAL OF DERMATOLOGY

Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene

Human Molecular Genetics

Capon, F. and Bijlmakers, M.-J. and Wolf, N. and Quaranta, M. and Huffmeier, U. and Allen, M. and Timms, K. and Abkevich, V. and Gutin, A. and Smith, R. and Warren, R.B. and Young, H.S. and Worthington, J. and Burden, D.A. and Griffiths, C.E.M. and Hayday, A. and Nestle, F.O. and Reis, A. and Lanchbury, J. and Barker, J.N. and Trembath, R.C.

DOI: 10.1093/hmg/ddn091

Association analysis of the IL12B and IL23R genes in clinical variants of psoriasis

JOURNAL OF INVESTIGATIVE DERMATOLOGY

Evidence for a role of the interleukin-23 pathway in the pathogenesis of psoriasis

CLINICAL IMMUNOLOGY

DOI: 10.1016/J.CLIM.2007.03.357

Psoriasis shows no association with laggrin-null alleles

BRITISH JOURNAL OF DERMATOLOGY

Genetic and functional evidence for a role of the interleukin-23 pathway in the pathogenesis of psoriasis

JOURNAL OF INVESTIGATIVE DERMATOLOGY

Filaggrin null alleles are not associated with psoriasis

Journal of Investigative Dermatology

Zhao, Y. and Terron-Kwiatkowski, A. and Liao, H. and Lee, S.P. and Allen, M.H. and Hull, P.R. and Campbell, L.E. and Trembath, R.C. and Capon, F. and Griffiths, C.E.M. and Burden, D. and McManus, R. and Hughes, R. and Kirby, B. and Rogers, S.F. and Fitzgerald, O. and Kane, D. and Barker, J.N.W.N. and Palmer, C.N.A. and Irvine, A.D. and Irwin McLean, W.H.

DOI: 10.1038/sj.jid.5700817

Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis

Human Genetics

Capon, F. and Di Meglio, P. and Szaub, J. and Prescott, N.J. and Dunster, C. and Baumber, L. and Timms, K. and Gutin, A. and Abkevic, V. and Burden, A.D. and Lanchbury, J. and Barker, J.N. and Trembath, R.C. and Nestle, F.O.

DOI: 10.1007/s00439-007-0397-0

The R381Q variant of the interleukin-23 receptor gene (IL23R) confers protection against psoriasis vulgaris

BRITISH JOURNAL OF DERMATOLOGY

Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16p12-p13 and evidence for genetic heterogeneity

American Journal of Human Genetics

Capon, F. and Reece, A. and Ravindrarajah, R. and Chung, E.

DOI: 10.1086/505952

Evidence of an association between desmoglein 3 haplotypes and pemphigus vulgaris

British Journal of Dermatology

Capon, F. and Bharkhada, J. and Cochrane, N.E. and Mortimer, N.J. and Setterfield, J.F. and Reynaert, S. and Black, M.M. and Vaughan, R.W. and Trembath, R.C. and Harman, K.E.

DOI: 10.1111/j.1365-2133.2005.06882.x

The long and winding road: Searching for non-MHC psoriasis susceptibility loci

Current Genomics

Capon, F. and Giardina, E.

DOI: 10.2174/1389202053202102

Fine mapping of the psoriasis susceptibility gene PSORS1: A reassessment of risk associated with a putative risk haplotype lacking HLA-Cw6

Journal of Investigative Dermatology

Abecasis, G. and Allen, M. and Barker, J.N.W.N. and Burden, D. and Capon, F. and Christophers, E. and Elder, J.T. and Fischer, J. and Giardina, E. and Gudjonsson, J.E. and Hffmeier, U. and Jenisch, S. and Karason, A. and Kere, J. and Nair, R.P. and Novelli, G. and Prud'homme, J.-F. and Qin, Z.S. and Samuelsson, L. and Sanchez, F. and Saarialho-Kere, U. and St?hle, M. and Stuart, P. and Tillman, D. and Traupe, H. and Trembath, R. and Valdimarsson, H. and Veal, C. and Voorhees, J.J. and Weichenthal, M.

DOI: 10.1111/j.0022-202X.2005.23729.x

A synonymous SNP of the corneodesmosin gene leads to increased mRNA stability and demonstrates association with psoriasis across diverse ethnic groups

Human Molecular Genetics

Capon, F. and Allen, M.H. and Ameen, M. and Burden, A.D. and Tillman, D. and Barker, J.N. and Trembath, R.C.

DOI: 10.1093/hmg/ddh273

A psoriasis associated allele of the corneodesmosin gene leads to increased mRNA stability

JOURNAL OF MEDICAL GENETICS

Characterization of the loricrin (LOR) gene as a positional candidate for the PSORS4 psoriasis susceptibility locus

Annals of Human Genetics

Giardina, E. and Capon, F. and De Rosa, M.C. and Mango, R. and Zambruno, G. and Orecchia, A. and Chimenti, S. and Giardina, B. and Novelli, G.

DOI: 10.1046/j.1529-8817.2004.00118.x

Genetic analysis of PSORS2 markers in a UK dataset supports the association between RAPTOR SNPs and familial psoriasis

Journal of Medical Genetics

Capon, F. and Helms, C. and Veal, C.D. and Tillman, D. and Burden, A.D. and Barker, J.N. and Bowcock, A.M. and Trembath, R.C.

DOI: 10.1136/jmg.2004.018226

An update on the genetics of psoriasis

Dermatologic Clinics

Capon, F. and Trembath, R.C. and Barker, J.N.

DOI: 10.1016/S0733-8635(03)00125-6

The International Psoriasis Genetics study: Assessing linkage to 14 candidate susceptibility loci in a cohort of 942 affected sib pairs

AMERICAN JOURNAL OF HUMAN GENETICS

Insight into genetics of atopic dermatitis: Future approaches and directions

JOURNAL OF INVESTIGATIVE DERMATOLOGY

Haplotype analysis of distantly related populations implicates corneodesmosin in psoriasis susceptibility

Journal of Medical Genetics

Capon, F. and Toal, I.K. and Evans, J.C. and Allen, M.H. and Patel, S. and Tillman, D. and Burden, D. and Barker, J.N.W.N. and Trembath, R.C.

DOI: 10.1136/jmg.40.6.447

Mutational analysis of Peroxiredoxin IV: Exclusion of a positional candidate for multinodular goitre

BMC Medical Genetics

Giardina, E. and Capon, F. and D'Apice, M.R. and Amati, F. and Arturi, F. and Filetti, S. and Bonifazi, E. and Pucci, S. and Conte, C. and Novelli, G.

DOI: 10.1186/1471-2350-3-5

SNPing of LOR gene in psoriasis patients.

AMERICAN JOURNAL OF HUMAN GENETICS

Mandibuloacral dysplasia is caused by R527H mutation in lamins A/C gene.

AMERICAN JOURNAL OF HUMAN GENETICS

Evidence for differential S100 gene over-expression in psoriatic patients from genetically heterogeneous pedigrees

Human Genetics

Semprini, S. and Capon, F. and Tacconelli, A. and Giardina, E. and Orecchia, A. and Mingarelli, R. and Gobello, T. and Zambruno, G. and Botta, A. and Fabrizi, G. and Novelli, G.

DOI: 10.1007/s00439-002-0812-5

Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus

Human Molecular Genetics

Asumalahti, K. and Veal, C. and Laitinen, T. and Suomela, S. and Allen, M. and Elomaa, O. and Moser, M. and De Cid, R. and Ripatti, S. and Vorechovsky, I. and Marcusson, J.A. and Nakagawa, H. and Lazaro, C. and Estivill, X. and Capon, F. and Novelli, G. and Saarialho-Kere, U. and Barker, J. and Trembath, R. and Kere, J. and Burden, D.B. and Tillman, D. and Powis, S.H. and Balendran, N. and Ameen, M. and Vaughan, R.W. and Heath, E.K. and Itkonen-Vatjus, R. and Jansen, C. and Karvonen, J. and Karvonen, S.-L. and Kiveks, K. and Reunala, T. and Snellman, E. and Uurasmaa, T. and Toftg?rd, R. and Murakami, T. and Otsuki, M. and Asahina, A. and Saeki, H. and Barber, E. and Ferrndiz, C. and Gimnez Arnau, A. and Grimalt, F. and Puig, S. and Snchez, A. and Palacios, A. and Pujol, J.A. and Snchez, M. and Simal, E. and Vzquez, F. and Ramrez, B.

DOI: 10.1093/hmg/11.5.589

Analysis of a dense SNP based map in a psoriatic cohort defines genetic variation at PSORS1, the major psoriasis susceptibility locus.

AMERICAN JOURNAL OF HUMAN GENETICS

Association analysis of the loricrin gene in Italian patients with psoriasis

EUROPEAN JOURNAL OF HUMAN GENETICS

Searching for the major histocompatibility complex psoriasis susceptibility gene

Journal of Investigative Dermatology

Capon, F. and Munro, M. and Barker, J. and Trembath, R.

DOI: 10.1046/j.1523-1747.2002.01749.x

Family-based analysis using a dense single-nucleotide polymorphism-based map defines genetic variation at PSORS1, the major psoriasis-susceptibility locus

American Journal of Human Genetics

Veal, C.D. and Capon, F. and Allen, M.H. and Heath, E.K. and Evans, J.C. and Jones, A. and Patel, S. and Burden, D. and Tillman, D. and Barker, J.N.W.N. and Trembath, R.C.

DOI: 10.1086/342289

Exclusion of CARD15/NOD2 as a candidate susceptibility gene to psoriasis in the Italian population

European Journal of Dermatology

Borgiani, P. and Vallo, L. and D'Apice, M.R. and Giardina, E. and Pucci, S. and Capon, F. and Nistic, S. and Chimenti, S. and Pallone, F. and Novelli, G.

Exclusion of CARD15/NOD2 as a candidate susceptibility gene to psoriasis in the Italian population.

European journal of dermatology : EJD

PubMed: 12459523

Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to ohuman chromosome 17p11

Human Genetics

Baghernajad Salehi, L. and Mangino, M. and De Serio, S. and De Cicco, D. and Capon, F. and Semprini, S. and Pizzuti, A. and Novelli, G. and Dallapiccola, B.

DOI: 10.1007/s00439-002-0785-4

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

American Journal of Human Genetics

Novelli, G. and Muchir, A. and Sangiuolo, F. and Helbling-Leclerc, A. and D?apice, M.R. and Massart, C. and Capon, F. and Sbraccia, P. and Federici, M. and Lauro, R. and Tudisco, C. and Pallotta, R. and Scarano, G. and Dallapiccola, B. and Merlini, L. and Bonne, G.

DOI: 10.1086/341908

A single strand conformation polymorphism-based carrier test for spinal muscular atrophy

Genetic Testing

Semprini, S. and Tacconelli, A. and Capon, F. and Brancati, F. and Dallapiccola, B. and Novelli, G.

DOI: 10.1089/109065701750168662

Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26

European Journal of Human Genetics

Mangino, M. and Flex, E. and Capon, F. and Sangiuolo, F. and Carraro, E. and Gualandi, F. and Mazzoli, M. and Martini, A. and Novelli, G. and Dallapiccola, B.

DOI: 10.1038/sj.ejhg.5200707

Mutational analysis of peroxiredoxin IV (Prx-IV): exclusion of a positional candidate for multinodular goiter.

AMERICAN JOURNAL OF HUMAN GENETICS

Fine mapping of the PSORS4 psoriasis susceptibility region on chromosome 1q21

Journal of Investigative Dermatology

Capon, F. and Semprini, S. and Chimenti, S. and Fabrizi, G. and Zambruno, G. and Murgia, S. and Carcassi, C. and Fazio, M. and Mingarelli, R. and Dallapiccola, B. and Novelli, G.

DOI: 10.1046/j.1523-1747.2001.01311.x

Dopamine D4 receptor (DRD4) in the determination of infant temperament.

AMERICAN JOURNAL OF MEDICAL GENETICS

Mapping a dominant form of multinodular goiter to chromosome Xp22

American Journal of Human Genetics

Capon, F. and Tacconelli, A. and Giardina, E. and Sciacchitano, S. and Bruno, R. and Tassi, V. and Trischitta, V. and Filetti, S. and Dallapiccola, B. and Novelli, G.

DOI: 10.1086/303095

Mapping a locus for familial idiopathic scoliosis on chromosome 17q.

AMERICAN JOURNAL OF HUMAN GENETICS

Advances in the search for Psoriasis susceptibility genes

Molecular Genetics and Metabolism

Capon, F. and Dallapiccola, B. and Novelli, G.

DOI: 10.1006/mgme.2000.3031

Mapping a dominant form of multinodular goiter to chromosome Xp22.

AMERICAN JOURNAL OF HUMAN GENETICS

Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3

European Journal of Human Genetics

Sangiuolo, F. and Bruscia, E. and Capon, F. and Servidei, S. and Dallapiccola, B. and Novelli, G.

DOI: 10.1038/sj.ejhg.5200547

Dopamine D4 receptor (DRD4) in the determination of infant temperament

American Journal of Medical Genetics - Neuropsychiatric Genetics

De Luca, A. and Torrente, I. and Mangino, M. and Capon, F. and Rizzardi, M. and Salvioli, G.P. and Alessandroni, R. and Novelli, G. and Dallapiccola, B.

A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13

Neurology

Servidei, S. and Capon, F. and Spinazzola, A. and Mirabella, M. and Semprini, S. and De Rosa, G. and Gennarelli, M. and Sangiuolo, F. and Ricci, E. and Mohrenweiser, H.W. and Dallapiccola, B. and Tonali, P. and Novelli, G.

DOI: 10.1212/wnl.53.4.830

Genomic structure, promoter characterisation and mutational analysis of the S100A7 gene: Exclusion of a candidate for familial psoriasis susceptibility

Human Genetics

Semprini, S. and Capon, F. and Bovolenta, S. and Bruscia, E. and Pizzuti, A. and Fabrizi, G. and Schietroma, C. and Zambruno, G. and Dallapiccola, B. and Novelli, G.

DOI: 10.1007/s004390050925

Autosomal dominant vacuolar neuro-myopathy linked to 19p13: A nosological entity?

NEUROLOGY

The in vivo metastatic capacity of human melanoma cell lines is directly related to 72 kDa gelatinase A (matrix metalloproteinase-2) expression but inversely related to its potential activation.

JOURNAL OF INVESTIGATIVE DERMATOLOGY

Expression and activation of pro-gelatinase A by human melanoma cell liner with different tumorigenic potential

JOURNAL OF INVESTIGATIVE DERMATOLOGY

Searching for psoriasis susceptibility genes in Italy: Genome scan and evidence for a new locus on chromosome 1

Journal of Investigative Dermatology

Capon, F. and Novelli, G. and Semprini, S. and Clementi, M. and Nudo, M. and Vultaggio, P. and Mazzanti, C. and Gobello, T. and Botta, A. and Fabrizi, G. and Dallapiccola, B.

DOI: 10.1046/j.1523-1747.1999.00471.x

Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22

American Journal of Human Genetics

Mangino, M. and Sanchez, O. and Torrente, I. and De Luca, A. and Capon, F. and Novelli, G. and Dallapiccola, B.

DOI: 10.1086/302505

Expression and activation of pro-gelatinase A by human melanoma cell lines with different tumorigenic potential

CLINICAL & EXPERIMENTAL METASTASIS

DOI: 10.1023/A:1006674709232

Evidence for interaction between psoriasis-susceptibility loci on chromosomes 6p21 and 1q21 [8]

American Journal of Human Genetics

Capon, F. and Semprini, S. and Dallapiccola, B. and Novelli, G.

DOI: 10.1086/302653

Mapping of a new autosomal dominant non-syndromic hearing loss to chromosome 15q26.

AMERICAN JOURNAL OF HUMAN GENETICS

Potential role of interleukin-4 in normal and pathologic wound healing.

JOURNAL OF INVESTIGATIVE DERMATOLOGY

Molecular prenatal diagnosis of neuromuscular disorders

NEUROMUSCULAR DISEASES DURING DEVELOPMENT

Expression study of survival motor neuron gene in human fetal tissues

Biochemical and Molecular Medicine

Novelli, G. and Calz, L. and Amicucci, P. and Giardino, L. and Pozza, M. and Silani, V. and Pizzuti, A. and Gennarelli, M. and Piombo, G. and Capon, F. and Dallapiccola, B.

DOI: 10.1006/bmme.1997.2590

A possible role of NAIP gene deletions in sex-related spinal muscular atrophy phenotype variation

Neurogenetics

Novelli, G. and Semprini, S. and Capon, F. and Dallapiccola, B.

DOI: 10.1007/s100480050004

Scanning of psoriasis susceptibility genes in the Italian population and assignment of a new locus to chromosome 1cen-q21.

AMERICAN JOURNAL OF HUMAN GENETICS

Deletion analysis of SMN and NAIP genes in spinal muscular atrophy Italian families

Muscle and Nerve

Capon, F. and Levato, C. and Semprini, S. and Pizzuti, A. and Merlini, L. and Novelli, G. and Dallapiccola, B.

DOI: 10.1002/(SICI)1097-4598(199603)19:3u003C378::AID-MUS17u003E3.0.CO;2-O

Wound healing after cryosurgery: An experimental study

JOURNAL OF INVESTIGATIVE DERMATOLOGY

Occupational contact dermatitis caused by computer mice

CONTACT DERMATITIS

DOI: 10.1111/J.1600-0536.1996.TB02279.X

DNA enzyme immunoassay for improved molecular detection of deletions in spinal muscular atrophies

Clinical Chemistry

Novelli, G. and Capon, F. and Levato, C. and Cavicchini, A. and Dallapiccola, B.

DOI: 10.1093/clinchem/42.4.643

Wound healing after cryosurgery: Development of an in vitro model

JOURNAL OF INVESTIGATIVE DERMATOLOGY

Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern

Neuromuscular Disorders

Capon, F. and Levato, C. and Merlini, L. and Angelini, C. and Mostacciuolo, M.L. and Politano, L. and Novelli, G. and Dallapiccola, B.

DOI: 10.1016/0960-8966(96)00350-1

Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus

Human Mutation

Capon, F. and Levato, C. and Bussaglia, E. and Cicero, S.L. and Tizzano, E.F. and Baiget, M. and Silani, V. and Pizzuti, A. and Novelli, G. and Dallapiccola, B.

DOI: 10.1002/(SICI)1098-1004(1996)7:3u003C198::AID-HUMU3u003E3.0.CO;2-7

Identification of multiple transcribed sequences from the spinal muscular atrophy region on human chromosome 5

Biochemical and Biophysical Research Communications

Pizzuti, A. and Colosimo, A. and Ratti, A. and Capon, F. and Gennarelli, M. and Ghezzi, C. and Lo Cicero, S. and Calabrese, G. and Palka, G. and Scarlato, G. and Novelli, G. and Dallapiccola, B.

DOI: 10.1006/bbrc.1995.1041

Survival motor-neuron gene transcript analysis in muscles from spinal muscular-atrophy patients

Biochemical and Biophysical Research Communications

Gennarelli, M. and Lucarelli, M. and Capon, F. and Pizzuti, A. and Merlini, L. and Angelini, C. and Novelli, G. and Dallapiccola, B.

DOI: 10.1006/bbrc.1995.2135

De novo deletions of the 5q13 region and prenatal diagnosis of spinal muscular atrophy

Prenatal Diagnosis

Capon, F. and Cicero, S.L. and Levato, C. and Novelli, G. and Dallapiccola, B.

DOI: 10.1002/pd.1970150121

TROPHOBLAST AND SKELETAL-MUSCLE SMN GENE-EXPRESSION IN SPINAL MUSCULAR-ATROPHY

AMERICAN JOURNAL OF HUMAN GENETICS

Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13

Journal of Medical Genetics

Novelli, G. and Capon, F. and Tamisari, L. and Grandi, E. and Angelini, C. and Guerrini, P. and Dallapiccola, B.

DOI: 10.1136/jmg.32.3.216

First-trimester prenatal diagnosis of spinal muscular atrophy using microsatellite markers

Prenatal Diagnosis

Cicero, S.L. and Capon, F. and Melchionda, S. and Gennarelli, M. and Novelli, G. and Dallapiccola, B.

DOI: 10.1002/pd.1970140608

PCR PROTOCOL FOR DNA RECOVERY FROM SPURRS-EMBEDDED MUSCLE BIOPSIES

PCR-METHODS AND APPLICATIONS

A tool for the molecular analysis of an early lethal disease: Slide-pcr in spinal muscular atrophy patients

Molecular and Cellular Probes

Capon, F. and Melchionda, S. and Gennarelli, M. and Lo Cicero, S. and Giacanelli, M. and Novelli, G. and Dallapiccola, B.

DOI: 10.1006/mcpr.1993.1032

PCR protocol for DNA recovery from Spurr's-embedded muscle biopsies

Genome Research

Capon, F. and Lo Cicero, S. and Novelli, G. and Dallapiccola, B.

DOI: 10.1101/gr.3.3.211

Gene identification in severe skin inflammation

Common inflammatory skin disorders such as eczema have a profound impact on quality of life. Meanwhile, rare forms of psoriasis (e.g. generalised pustular psoriasis) are potentially life-threatening.
We have been investigating the causes of these conditions by combining genetic approaches (genome-wide association studies, whole-exome sequencing) with the in-vitro and ex-vivo characterization of disease alleles. This integrated strategy has been very productive. For example, it has enabled us to identify IL-36 as a key disease driver and therapeutic target in generalised pustular psoriasis.

Mechanisms underlying response to biologics

Biologics that target specific disease drivers have revolutionised the treatment of skin diseases such as psoriasis. However, significant variability in drug response is observed across individuals.
To better understand the mechanisms underlying drug-induced remission and relapse, we are using single-cell omics to investigate early response to biologics. We have recently identified a fibroblasts population that rapidly reduces in frequency after treatment of psoriasis with IL-23/IL-17 blockers. To build on this work, we are currently investigating the cell states mediating the effects of IL-4/IL-13 inhibitors in atopic dermatitis (eczema).

Genetic basis of idiopathic recurrent pericarditis

Pericarditis is a caused by inflammation of the pericardial sac surrounding the heart. It presents with severe chest pain and is associated with significant morbidity. While an involvement of innate immune responses has been hypothesised, the causes of recurrent pericarditis remain poorly understood.
We are using genetic approaches to address this research gap and better understand disease mechanisms. By combining whole exome sequencing and gene editing, we are characterising a novel genetic determinant of recurrent pericarditis. Moving forward, we plan to expand this programme by investigating larger patient cohorts.

Grants

Principal Investigator. Developing ELVIS, a tool for ELucidating Variant Impact on Skin. Funding Source: British Skin Foundation PhD studentship

Co-Investigator. Dissecting shared mechanisms of drug action and response within the BEACON eczema multi-arm clinical trial: a single-cell approach. Funding Source: National Institute of Health and care Research (NIHR)

Principal Investigator. The role of IL-36 and Th2 cytokines in the pathogenesis of palmar-plantar pustulosis. Funding Source: Boehringer-Ingelheim

Principal Investigator. A single-cell dissection of the mechanisms underlying the ocular adverse effects of dupilumab in atopic dermatitis. Funding Source: Leo Foundation

Principal Investigator. The pathogenic role of interleukin-36 in Systemic Lupus Erythematosus. Funding Source: Versus Arthritis

Principal Investigator. Demonstrating the benefits of smoking cessation in psoriasis, a molecular approach. Funding Source: Psoriasis Association

Principal Investigator. The autoinflammatory basis of idiopathic recurrent pericarditis. Funding Source: British Heart Foundation

Our Research

At BC Children’s, we are making discoveries that save lives and transform health care for children in our province and around the world. Our research portfolio includes basic, clinical, population, and public health research.

EXPLORE OUR RESEARCH

Francesca Capon

PhD

Investigator, BC Children's Hospital Chair in Genetic Medicine

Academic Affiliations

Contact Information

Location

Publications

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Interleukin-36 upregulates type-I interferon responses in systemic lupus erythematosus by promoting the accumulation of self-nucleic acids

IL-36 signalling promotes a proinflammatory macrophage state that is associated with reduced lipid uptake

Mendelian randomization identifies OX40 as a potential mediator of the effects of cigarette smoking on palmoplantar pustulosis

GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets

Inflammatory memory in psoriasis: From remission to recurrence

A genome-wide meta-analysis of palmoplantar pustulosis implicates Th2 responses and cigarette smoking in disease pathogenesis

Single-cell analysis of psoriasis resolution demonstrates an inflammatory fibroblast state targeted by IL-23 blockade

International Consensus Definition and Diagnostic Criteria for Generalized Pustular Psoriasis From the International Psoriasis Council

Cover Image

In Silico and In Vitro Analysis of IL36RN Alterations Reveals Critical Residues for the Function of the Interleukin-36 Receptor Complex

Nonadherence to systemic immune-modifying therapy in people with psoriasis during the COVID-19 pandemic: findings from a global cross-sectional survey

Damaging Alleles Affecting Multiple CARD14 Domains Are Associated with Palmoplantar Pustulosis

A viewpoint on the genetic determinants of generalised pustular psoriasis

Single-cell analysis of psoriasis resolution reveals an inflammatory fibroblast state targeted by IL-23 blockade

Clinical profile of patients with acute generalized pustular psoriasis with and without IL36RN mutations in multi-ethnic Johor Bahru, Malaysia

Development of a novel platform trial evaluating systemic therapies in adult atopic eczema with parallel mechanistic studies (BEACON and BEACONomics): a UK-wide interdisciplinary collaboration

Are Janus kinase inhibitors an effective treatment for palmoplantar pustulosis? A critically appraised topic

The interleukin 1 receptor antagonist anakinra to reduce disease severity of palmoplantar pustulosis in adults: APRICOT RCT and PLUM mechanistic study

An exome wide association study identifies new genetic determinants for palmar plantar pustulosis

Sex and smoking status drive severity differences in palmoplantar pustulosis

New genetic and clinical features of neonatal inflammatory skin and bowel disease 1

Anakinra for palmoplantar pustulosis: results from a randomized, double-blind, multicentre, two-staged, adaptive placebo-controlled trial (APRICOT)

The impact of the COVID-19 pandemic on people with psoriasis: an update from the PsoProtect and PsoProtectMe global registries

Single-cell analysis implicates TH17-to-TH2 cell plasticity in the pathogenesis of palmoplantar pustulosis

A Role for Targeted Colchicine Uptitration in Recurrent Pericarditis: A Ten- Year Experience of Treatment Refractory Disease at a Specialist Referral Center

Vaccine hesitancy and access to psoriasis care in the COVID-19 pandemic: findings from a global patient-reported cross-sectional survey

Single-cell RNA sequencing reveals systemic T-cell abnormalities in palmar plantar pustulosis

Differences in Clinical Features and Comorbid Burden between HLA-C*06:02 Carrier Groups in >9,000 People with Psoriasis

A comparative study of the thermochromic performances of VO2 films obtained by air oxidation of V and VN precursors

Vaccine hesitancy and access to psoriasis care during the COVID-19 pandemic: findings from a global patient-reported cross-sectional survey

Using single-cell transcriptomics to characterise early mechanisms of disease remission in psoriasis

Pericarditis and Autoinflammation: A Clinical and Genetic Analysis of Patients With Idiopathic Recurrent Pericarditis and Monogenic Autoinflammatory Diseases at a National Referral Center

Risk-mitigating behaviours in people with inflammatory skin and joint disease during the COVID-19 pandemic differ by treatment type: a cross-sectional patient survey*

The impact of the COVID-19 pandemic on people with psoriasis: findings from a global patient-reported registry

Anakinra for palmoplantar pustulosis: results from a randomized, double-blind, multicentre, two staged, adaptive placebo controlled trial (APRICOT)

Loss-of-function myeloperoxidase mutations are associated with increased neutrophil counts and pustular skin disease (vol 107, pg 539, 2020)

Genetic analysis of NLRP3 in recurrent pericarditis

Factors associated with adverse COVID-19 outcomes in patients with psoriasis"insights from a global registry"based study

Describing the burden of the COVID-19 pandemic in people with psoriasis: findings from a global cross-sectional study

International Rare and Severe Psoriasis Expert Network (IRASPEN) - A prospective multi-centre pustular psoriasis registry with genotype-phenotype correlation

Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease

Psoriasis and genetics

A randomised placebo controlled trial of anakinra for treating pustular psoriasis: Statistical analysis plan for stage two of the APRICOT trial

Factors associated with hospitalization due to COVID-19 in patients with psoriasis: insights from a global registry

Association of clinical and demographic factors with the severity of palmoplantar pustulosis

IL-36 Promotes Systemic IFN-I Responses in Severe Forms of Psoriasis

Global reporting of cases of COVID-19 in psoriasis and atopic dermatitis: an opportunity to inform care during a pandemic

Coding variants of the CARD14 NF-kB adaptor are associated with palmar plantar pustulosis

Risk mitigating behaviours in people with inflammatory joint and skin disease during the COVID-19 pandemic differ by treatment type: A cross-sectional patient survey

CARD14 variants are associated with palmar plantar pustulosis

Sex and Smoke-Related Differences in the Severity of Palmoplantar Pustulosis

Pustular Forms of Psoriasis Related to Autoinflammation

Early-onset generalized pustular psoriasis is representative of autoinflammatory keratinization diseases Reply

Clinical and genetic differences between pustular psoriasis subtypes

A small population, randomised, placebo-controlled trial to determine the efficacy of anakinra in the treatment of pustular psoriasis: Study protocol for the APRICOT trial

The heterogeneous mutational landscape of pustular psoriasis

Features of pustular psoriasis observed in 863 patients: Clinical and genetic analysis of a multi-ethnic cohort

Interleukin-36 promotes systemic Type-I IFN responses in severe psoriasis

An investigation of the molecular pathogenesis of generalized pustular psoriasis through neutrophil RNAseq

An investigation of the molecular pathogenesis of Generalized Pustular Psoriasis and its overlap with Psoriasis Vulgaris

European consensus statement on phenotypes of pustular psoriasis

Juvenile generalized pustular psoriasis is a chronic recalcitrant disease: an analysis of 27 patients seen in a tertiary hospital in Johor, Malaysia

An analysis of IL-36 signature genes and individuals with IL1RL2 knockout mutations validates IL-36 as a psoriasis therapeutic target

The genetic basis of psoriasis

Preliminary therapeutic target validation of the IL-36 receptor in psoriasis

A transcriptomic study investigating the pathogenesis of generalized pustular psoriasis

Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling

The genetic analysis of a large pustular psoriasis resource highlights differential effects for IL36RN and AP1S3 mutations

Preliminary validation of the IL-36 receptor as a target in psoriasis treatment

First report of digenic inheritance in pustular psoriasis

AP1S3 mutations cause cutaneous autoinflammation by disrupting autophagy and up-regulating IL-36 production in keratinocytes

Investigator, BC Children's Hospital
Chair in Genetic Medicine

Single-cell analysis implicates T_H17-to-T_H2 cell plasticity in the pathogenesis of palmoplantar pustulosis

A comparative study of the thermochromic performances of VO₂ films obtained by air oxidation of V and VN precursors