IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases
Marie Tauber,Elodie Bal,Xue-Yuan Pei,Marine Madrange,Amel Khelil,Houria Sahel,Akila Zenati,Mohamed Makrelouf,Khaled Boubridaa,Amel Chiali,Naima Smahi,Farida Otsmane,Bakar Bouajar,Slaheddine Marrakchi,Hamida Turki,Emmanuelle Bourrat,Manuelle Viguier,Yamina Hamel,Hervé Bachelez,Asma Smahi +19 more
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TLDR
Null mutations were associated with severe clinical phenotypes, whereas hypomorphic mutations were identified in both localized (palmoplantar pustular psoriasis, acrodermatitis continua of Hallopeau) and generalized variants.About:
This article is published in Journal of Investigative Dermatology.The article was published on 2016-09-01 and is currently open access. It has received 72 citations till now. The article focuses on the topics: Generalized pustular psoriasis & Pustular Eruption.read more
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Regulation and function of interleukin-36 cytokines.
TL;DR: The role of IL‐36 has been extensively demonstrated in the skin where it can act on keratinocytes and immune cells to induce a robust inflammatory response that has been implicated in psoriatic disorders and emerging data suggest a role for this cytokine family in pulmonary and intestinal physiology and pathology.
Journal ArticleDOI
The genetic basis for most patients with pustular skin disease remains elusive
Rotraut Mössner,Dagmar Wilsmann-Theis,Vinzenz Oji,P. Gkogkolou,Sabine Löhr,Peter Schulz,Andreas Körber,Jörg C. Prinz,Regina Renner,Knut Schäkel,L. Vogelsang,Klaus-Peter Peters,Sandra Philipp,Kristian Reich,H. Ständer,Anne Jacobi,Ansgar Weyergraf,Külli Kingo,Sulev Kõks,Sascha Gerdes,Kirsten Steinz,T. Schill,Klaus G. Griewank,Michael Müller,Silke Frey,L. Ebertsch,Steffen Uebe,Michael Sticherling,Heinrich Sticht,Ulrike Hüffmeier +29 more
TL;DR: Rare variants in the genes IL36RN, CARD14 and AP1S3 have been identified to cause or contribute to pustular skin diseases, primarily generalized pustULAR psoriasis (GPP).
Journal ArticleDOI
Monogenic autoinflammatory disorders: Conceptual overview, phenotype, and clinical approach
TL;DR: The basic concepts underlying the "autoinflammatory revolution" in the understanding of immune-mediated disease are reviewed and major categories of monogenic autoinflammatory disorders recognized to date are introduced, including inflammasomopathies and other IL-1-related conditions, interferonopathies, and disorders of nuclear factor kappa B and/or aberrant TNF activity.
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Secukinumab for moderate to severe palmoplantar pustular psoriasis: Results of the 2PRECISE study
Ulrich Mrowietz,Hervé Bachelez,Hervé Bachelez,A. David Burden,Michael Rissler,Christian Sieder,Roberto Orsenigo,Kamel Chaouche-Teyara +7 more
TL;DR: Patients with PPP who were treated with secukinumab, 300 mg, showed benefit in terms of PPPASI75 responses over 52 weeks and improved quality of life.
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Biology of IL-36 Signaling and Its Role in Systemic Inflammatory Diseases
TL;DR: The current knowledge about the biological role of IL-36 and its correlation with systemic inflammatory diseases is summarized to increase the understanding of the potential and give clues for developing novel therapeutic strategies.
References
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Comparative Protein Structure Modeling Using MODELLER
Narayanan Eswar,Ben Webb,Marc A. Marti-Renom,Mallur S. Madhusudhan,David Eramian,Min-Yi Shen,Ursula Pieper,Andrej Sali +7 more
TL;DR: This unit describes how to calculate comparative models using the program MODELLER and discusses all four steps of comparative modeling, frequently observed errors, and some applications.
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Predicting the functional impact of protein mutations: application to cancer genomics
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Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.
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TL;DR: The best models out-perform previous probabilistic models in the discrimination of human 5' and 3' splice sites from decoys and mechanistically motivated ways of comparing models are discussed.
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Pathogenesis and clinical features of psoriasis.
TL;DR: Comorbidities of psoriasis are attracting interest, and include impairment of quality of life and associated depressive illness, cardiovascular disease, and a seronegative arthritis known as psoriatic arthritis.
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