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

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第一作者： Katja M,Eckl

第一单位： Department of Biology, Edge Hill University, Ormskirk, United Kingdom.

作者： Katja M,Eckl ^[1] ; Robert,Gruber ^[2] ; Louise,Brennan ^[1] ; Andrew,Marriott ^[1] ; Roswitha,Plank ^[3] ; Verena,Moosbrugger-Martinz ^[2] ; Stefan,Blunder ^[2] ; Anna,Schossig ^[4] ; Janine,Altmüller ^[5] ; Holger,Thiele ^[5] ; Peter,Nürnberg ^[5] ; Johannes,Zschocke ^[4] ; Hans Christian,Hennies ^[6] ; Matthias,Schmuth ^[2]

作者单位： Department of Biology, Edge Hill University, Ormskirk, United Kingdom. ^[1] Department of Dermatology, Medical University of Innsbruck, Innsbruck, Austria. ^[2] Department of Biological and Geographical Sciences, University of Huddersfield, Huddersfield, United Kingdom.;Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria. ^[3] Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria. ^[4] Cologne Center for Genomics, Faculty of Medicine and Cologne University Hospital, University of Cologne, Cologne, Germany. ^[5] Department of Biological and Geographical Sciences, University of Huddersfield, Huddersfield, United Kingdom.;Cologne Center for Genomics, Faculty of Medicine and Cologne University Hospital, University of Cologne, Cologne, Germany. ^[6]

关键词 cathepsin cicatricial alopecia congenital disorder of cornification cystatin epidermal differentiation keratosis follicularis spinulosa decalvans transglutaminase

DOI 10.3389/fgene.2021.689940

PMID 34322157

发布时间 2025-05-30

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