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Darier disease (DD) is an autosomal dominant disorder due to mutation of ATP2A2 gene causing an isolated skin manifestation based on keratinocyte disconnection and apoptosis. Systemic manifestations of DD have not been demonstrated so far although a high incidence of neuropsychiatric syndromes suggest an involvement of central nervous system.
Andrea Frustaci +7 more
openaire +1 more source
Dantrolene corrects cellular disease features of Darier disease and may be a novel treatment
EMBO Molecular MedicineDarier disease (DD) is a rare severe acantholytic skin disease caused by mutations in the ATP2A2 gene that encodes for the sarco/endoplasmic reticulum calcium ATPase isoform 2 (SERCA2).
Matthew Hunt +16 more
doaj +1 more source
Clinical and Translational MedicineHematopoietic stem and progenitor cells (HSPCs) possess the potential to produce all types of blood cells throughout their lives. It is well recognized that HSPCs are heterogeneous, which is of great significance for their clinical applications and the ...
Junnan Hua +16 more
doaj +1 more source
Hot Off the Bench—Late Breaking Abstracts Society for Investigative Dermatology Annual Meeting May 5–9, 1999 [PDF]
, 1999 Ajuntament de Barcelona
core +2 more sources
Polycystin 2 is increased in disease to protect against stress-induced cell death [PDF]
, 2020 Brill, Allison L. +13 more
core +1 more source
Store-operated Ca2+ entry controls ameloblast cell function and enamel development [PDF]
, 2017 Eckstein, Miriam +10 more
core +2 more sources
Bilateral gene interaction hierarchy analysis of the cell death gene response emphasizes the significance of cell cycle genes following unilateral traumatic brain injury [PDF]
, 2016 core +1 more source
Downregulation of GSTK1 Is a Common Mechanism Underlying Hypertrophic Cardiomyopathy [PDF]
, 2016 Koki Kawaguchi +10 more
core +1 more source