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

doi:10.1038/s41436-018-0355-3

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 journal › Article › Academic › peer-review

4 Citations (Web of Science)

Original language	English
Pages (from-to)	1559-1567
Number of pages	9
Journal	Genetics in Medicine
Volume	21
Issue number	7
DOIs	https://doi.org/10.1038/s41436-018-0355-3
Publication status	Published - 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

Access to Document

10.1038/s41436-018-0355-3

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

van den Bogaard, Ellen H. J. ; van Geel, Michel ; van Vlijmen-Willems, Ivonne M. J. J. ; Jansen, Patrick A. M. ; Peppelman, Malou ; van Erp, Piet E. J. ; Atalay, Selma ; Venselaar, Hanka ; Simon, Marleen E. H. ; Joosten, Marieke ; Schalkwijk, Joost ; Zeeuwen, Patrick L. J. M. / Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin. In: Genetics in Medicine. 2019 ; Vol. 21, No. 7. pp. 1559-1567.

@article{267d9e02465f41638375ab355bbf32f9,

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

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",

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

year = "2019",

month = jul,

doi = "10.1038/s41436-018-0355-3",

language = "English",

volume = "21",

pages = "1559--1567",

journal = "Genetics in Medicine",

issn = "1098-3600",

publisher = "Nature Publishing Group",

number = "7",

}

van den Bogaard, EHJ, van Geel, M, van Vlijmen-Willems, IMJJ, Jansen, PAM, Peppelman, M, van Erp, PEJ, Atalay, S, Venselaar, H, Simon, MEH, Joosten, M, Schalkwijk, J & Zeeuwen, PLJM 2019, 'Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin', Genetics in Medicine, vol. 21, no. 7, pp. 1559-1567. https://doi.org/10.1038/s41436-018-0355-3

Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin. / van den Bogaard, Ellen H. J.; van Geel, Michel; van Vlijmen-Willems, Ivonne M. J. J.; Jansen, Patrick A. M.; Peppelman, Malou; van Erp, Piet E. J.; Atalay, Selma; Venselaar, Hanka; Simon, Marleen E. H.; Joosten, Marieke; Schalkwijk, Joost; Zeeuwen, Patrick L. J. M.

In: Genetics in Medicine, Vol. 21, No. 7, 07.2019, p. 1559-1567.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin

AU - van den Bogaard, Ellen H. J.

AU - van Geel, Michel

AU - van Vlijmen-Willems, Ivonne M. J. J.

AU - Jansen, Patrick A. M.

AU - Peppelman, Malou

AU - van Erp, Piet E. J.

AU - Atalay, Selma

AU - Venselaar, Hanka

AU - Simon, Marleen E. H.

AU - Joosten, Marieke

AU - Schalkwijk, Joost

AU - Zeeuwen, Patrick L. J. M.

PY - 2019/7

Y1 - 2019/7

KW - proteases

KW - hair follicle

KW - 3D-reconstructed epidermis

KW - skin barrier

KW - OF-FUNCTION MUTATIONS

KW - CATHEPSIN-L

KW - PROTEINASE-INHIBITOR

KW - HAIR FOLLICLE

KW - EPIDERMAL-KERATINOCYTES

KW - EXFOLIATIVE ICHTHYOSIS

KW - TARGET

KW - DIFFERENTIATION

KW - FILAGGRIN

KW - MORPHOGENESIS

U2 - 10.1038/s41436-018-0355-3

DO - 10.1038/s41436-018-0355-3

M3 - Article

C2 - 30425301

VL - 21

SP - 1559

EP - 1567

JO - Genetics in Medicine

JF - Genetics in Medicine

SN - 1098-3600

IS - 7

ER -