Keratin 14 Degradation and Aging in Epidermolysis Bullosa Simplex due to KLHL24 Gain-of-Function Variants

Mathilde C.S.C. Vermeer; Herman H.W. Silljé; Hendri H. Pas; Daniela Andrei; Peter van der Meer; Maria C. Bolling

doi:10.1016/j.jid.2021.12.027

Keratin 14 Degradation and Aging in Epidermolysis Bullosa Simplex due to KLHL24 Gain-of-Function Variants

Mathilde C.S.C. Vermeer, Herman H.W. Silljé, Hendri H. Pas, Daniela Andrei, Peter van der Meer, Maria C. Bolling^*

^*Corresponding author for this work

Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review

6 Citations (Scopus)

214 Downloads (Pure)

Original language	English
Pages (from-to)	2271-2274.e6
Number of pages	10
Journal	Journal of Investigative Dermatology
Volume	142
Issue number	8
Early online date	11-Jan-2022
DOIs	https://doi.org/10.1016/j.jid.2021.12.027
Publication status	Published - Aug-2022

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10.1016/j.jid.2021.12.027

Keratin 14 Degradation and Aging in Epidermolysis Bullosa Simplex due to KLHL24 Gain-of-Function VariantsFinal publisher's version, 5.34 MBLicence: Taverne

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@article{a9e1015e0f60418eb1e271ea71b876c8,

title = "Keratin 14 Degradation and Aging in Epidermolysis Bullosa Simplex due to KLHL24 Gain-of-Function Variants",

author = "Vermeer, {Mathilde C.S.C.} and Sillj{\'e}, {Herman H.W.} and Pas, {Hendri H.} and Daniela Andrei and {van der Meer}, Peter and Bolling, {Maria C.}",

note = "Funding Information: This work was supported by the Dutch Butterfly Child Foundation (grant number none, due to patient organization funding to MCB.), Human Frontier Science Program (grant number RGY 0071/2014 to PvdM), and the European Research Council (STOP-HF [StG]; grant number LS7 and ERC-2016-STG to PvdM). The authors would like to thank Albertine M. Nijenhuis for sharing her expertise in culturing keratinocytes. ",

year = "2022",

month = aug,

doi = "10.1016/j.jid.2021.12.027",

language = "English",

volume = "142",

pages = "2271--2274.e6",

journal = "Journal of Investigative Dermatology",

issn = "0022-202X",

publisher = "ELSEVIER SCIENCE INC",

number = "8",

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TY - JOUR

T1 - Keratin 14 Degradation and Aging in Epidermolysis Bullosa Simplex due to KLHL24 Gain-of-Function Variants

AU - Vermeer, Mathilde C.S.C.

AU - Silljé, Herman H.W.

AU - Pas, Hendri H.

AU - Andrei, Daniela

AU - van der Meer, Peter

AU - Bolling, Maria C.

N1 - Funding Information: This work was supported by the Dutch Butterfly Child Foundation (grant number none, due to patient organization funding to MCB.), Human Frontier Science Program (grant number RGY 0071/2014 to PvdM), and the European Research Council (STOP-HF [StG]; grant number LS7 and ERC-2016-STG to PvdM). The authors would like to thank Albertine M. Nijenhuis for sharing her expertise in culturing keratinocytes.

PY - 2022/8

Y1 - 2022/8

U2 - 10.1016/j.jid.2021.12.027

DO - 10.1016/j.jid.2021.12.027

M3 - Comment/Letter to the editor

C2 - 35031308

AN - SCOPUS:85123800107

SN - 0022-202X

VL - 142

SP - 2271-2274.e6

JO - Journal of Investigative Dermatology

JF - Journal of Investigative Dermatology

IS - 8

ER -