Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin

Ellen H. J. van den Bogaard, Michel van Geel, Ivonne M. J. J. van Vlijmen-Willems, Patrick A. M. Jansen, Malou Peppelman, Piet E. J. van Erp, Selma Atalay, Hanka Venselaar, Marleen E. H. Simon, Marieke Joosten, Joost Schalkwijk, Patrick L. J. M. Zeeuwen*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)1559-1567
Number of pages9
JournalGenetics in Medicine
Volume21
Issue number7
DOIs
Publication statusPublished - Jul 2019

Keywords

  • proteases
  • hair follicle
  • 3D-reconstructed epidermis
  • skin barrier
  • OF-FUNCTION MUTATIONS
  • CATHEPSIN-L
  • PROTEINASE-INHIBITOR
  • HAIR FOLLICLE
  • EPIDERMAL-KERATINOCYTES
  • EXFOLIATIVE ICHTHYOSIS
  • TARGET
  • DIFFERENTIATION
  • FILAGGRIN
  • MORPHOGENESIS

Cite this

van den Bogaard, E. H. J., van Geel, M., van Vlijmen-Willems, I. M. J. J., Jansen, P. A. M., Peppelman, M., van Erp, P. E. J., Atalay, S., Venselaar, H., Simon, M. E. H., Joosten, M., Schalkwijk, J., & Zeeuwen, P. L. J. M. (2019). Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin. Genetics in Medicine, 21(7), 1559-1567. https://doi.org/10.1038/s41436-018-0355-3