Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V

Keratosis follicularis spinulosa decalvans (KFSD) is a rare cornification disorder with an X-linked recessive inheritance in most cases. Pathogenic variants causing X-linked KFSD have been described in MBTPS2, the gene for a membrane-bound zinc metalloprotease that is involved in the cleavage of ste...

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Bibliografiska uppgifter
I publikationen:Front Genet
Huvudupphovsmän: Eckl, Katja M., Gruber, Robert, Brennan, Louise, Marriott, Andrew, Plank, Roswitha, Moosbrugger-Martinz, Verena, Blunder, Stefan, Schossig, Anna, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Zschocke, Johannes, Hennies, Hans Christian, Schmuth, Matthias
Materialtyp: Artigo
Språk:Inglês
Publicerad: Frontiers Media S.A. 2021
Ämnen:
Genetics
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC8312243/
https://ncbi.nlm.nih.gov/pubmed/34322157
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2021.689940
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