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731 results on '"Schalkwijk, J."'

4. Dithranol

Author

Kucharekova, M., van de Kerkhof, PC.M., Schalkwijk, J., van der Valk, P.G.M., Chew, Ai-Lean, editor, and Maibach, Howard I., editor

Published
2006
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13. Author Correction: A guiding map for inflammation (Nature Immunology, (2017), 18, 8, (826-831), 10.1038/ni.3790)

Author

Netea, M.G. Balkwill, F. Chonchol, M. Cominelli, F. Donath, M.Y. Giamarellos-Bourboulis, E.J. Golenbock, D. Gresnigt, M.S. Heneka, M.T. Hoffman, H.M. Hotchkiss, R. Joosten, L.A.B. Kastner, D.L. Korte, M. Latz, E. Libby, P. Mandrup-Poulsen, T. Mantovani, A. Mills, K.H.G. Nowak, K.L. O’Neill, L.A. Pickkers, P. van der Poll, T. Ridker, P.M. Schalkwijk, J. Schwartz, D.A. Siegmund, B. Steer, C.J. Tilg, H. van der Meer, J.W.M. van de Veerdonk, F.L. Dinarello, C.A.

Subjects
GeneralLiterature_MISCELLANEOUS, ComputingMilieux_MISCELLANEOUS
Abstract

In the version of this article initially published, in the Acknowledgements, the grant number for the Start Grant TWILIGHT awarded to M.A.L. by the European Research Council was omitted. The correct wording is “Supported by...the European Research Council (...Start Grant TWILIGHT (637801) to M.A.L.).” The error has not been corrected in the original article. © 2020, The Author(s), under exclusive licence to Springer Nature America, Inc.

Published
2021

19. Biallelic mutations in Tenascin-X cause classical-like Ehlers-Danlos syndrome with slowly progressive muscular weakness

Author

Brisset M, Metay C, Carlier RY, Badosa C, Marques C, Schalkwijk J, vanVlijmen-Willems I, Jimenez-Mallebrera C, Keren B, Jobic V, Laforêt P, and Malfatti E

Subjects
Whole body MRI, TNXB gene, Myopathy, Tenascin X
Abstract

Tenascin-X, is an extracellular matrix glycoprotein expressed in skin, muscle, tendons, and blood vessels with an anti-adhesive function. Biallelic Tenascin-X mutations cause classical-like Ehlers-Danlos syndrome. We report a 46-year-old woman with slowly progressive weakness of the lower limbs and myalgia from age 28 years. In the past she had Raynaud's phenomenon, multiple sprains and joint dislocations, conjunctival haemorrhages and a colonic perforation during colonoscopy. Neurologic examination showed moderate asymmetric proximal and axial muscular weakness, distal amyotrophy of 4 limbs, moderate skin hyperextensibility, and hypermobility of distal joints of fingers. Whole body Magnetic Resonance Imaging showed symmetric fatty infiltration of thigh and leg muscles, with predominant atrophy of thighs. Next Generation Sequencing revealed two pathogenic TNXB variants, g.32024681C>G, c.7826-1G>C, and g.32016181dup, c.9998dupA, p.(Asn3333Lysfs* 35). Western Blot and immunofluorescence studies confirmed a marked Tenascin-X reduction in both patient's serum and muscle. Here we further detail the clinical and genetic spectrum of a patient with classical-like Ehlers-Danlos syndrome and prominent muscle involvement. (C) 2020 Elsevier B.V. All rights reserved.

Published
2020

38. Psoriasis-Associated Late Cornified Envelope (LCE) Proteins Have Antibacterial Activity

Author

Niehues, H., Tsoi, L.C., Krieken, D.A. van der, Jansen, P.A.M., Oortveld, M.A.W., Rodijk-Olthuis, D., Vlijmen, I.M.J.J. van, Hendriks, W.J.A.J., Helder, R.W.J., Bouwstra, J.A., Bogaard, E.H. van den, Stuart, P.E., Nair, R.P., Elder, J.T., Zeeuwen, P.L.J.M., Schalkwijk, J., Krieken, D. A. van der, Oortveld, M.A.W, Krieken, D. A. van der, and Oortveld, M.A.W

Subjects
Keratinocytes, Male, 0301 basic medicine, Genotype, Human skin, Dermatology, Quantitative trait locus, Biology, Real-Time Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Biochemistry, Linkage Disequilibrium, Article, Cornified envelope, 03 medical and health sciences, Cornified Envelope Proline-Rich Proteins, Psoriasis, medicine, Stratum corneum, Humans, Life Science, Genetic Predisposition to Disease, Molecular Biology, Gene, Cells, Cultured, integumentary system, Biopsy, Needle, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Role, Wild type, Cell Biology, medicine.disease, Immunohistochemistry, Immunity, Innate, Anti-Bacterial Agents, Cell biology, 030104 developmental biology, medicine.anatomical_structure, Gene Expression Regulation, Immunology, Female, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19], Function (biology), Inflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5]
Abstract

Contains fulltext : 182646.pdf (Publisher’s version ) (Open Access) Terminally differentiating epidermal keratinocytes express a large number of structural and antimicrobial proteins that are involved in the physical barrier function of the stratum corneum and provide innate cutaneous host defense. Late cornified envelope (LCE) genes, located in the epidermal differentiation complex on chromosome 1, encode a family of 18 proteins of unknown function, whose expression is largely restricted to epidermis. Deletion of two members, LCE3B and LCE3C (LCE3B/C-del), is a widely-replicated psoriasis risk factor that interacts with the major psoriasis-psoriasis risk gene HLA-C*06. Here we performed quantitative trait locus analysis, utilizing RNA-seq data from human skin and found that LCE3B/C-del was associated with a markedly increased expression of LCE3A, a gene directly adjacent to LCE3B/C-del. We confirmed these findings in a 3-dimensional skin model using primary keratinocytes from LCE3B/C-del genotyped donors. Functional analysis revealed that LCE3 proteins, and LCE3A in particular, have defensin-like antimicrobial activity against a variety of bacterial taxa at low micromolar concentrations. No genotype-dependent effect was observed for the inside-out or outside-in physical skin barrier function. Our findings identify an unknown biological function for LCE3 proteins and suggest a role in epidermal host defense and LCE3B/C-del-mediated psoriasis risk.

Published
2017

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