Darier disease–a multi-organ condition?

E Bachar-Wikström… - Acta dermato …, 2021 - pmc.ncbi.nlm.nih.gov
Darier disease is a severe, rare autosomal dominant inherited skin condition caused by
mutations in the ATP2A2 gene encoding sarcoendoplasmic reticulum Ca2+-ATPase isoform …

Th17-associated cytokines IL-17 and IL-23 in inflamed skin of Darier disease patients as potential therapeutic targets

M Ettinger, T Burner, A Sharma, YT Chang… - Nature …, 2023 - nature.com
Darier disease (DD) is a rare, inherited multi-organ disorder associated with mutations in the
ATP2A2 gene. DD patients often have skin involvement characterized by malodorous …

Pumping the Breaks on Acantholytic Skin Disorders: Targeting Calcium Pumps, Desmosomes, and Downstream Signaling in Darier, Hailey–Hailey, and Grover …

RM Harmon, JL Ayers, EF McCarthy… - Journal of Investigative …, 2024 - Elsevier
Acantholytic skin disorders, by definition, compromise intercellular adhesion between
epidermal keratinocytes. The root cause of blistering in these diseases traces back to direct …

Patients with darier disease exhibit cognitive impairment while patients with hailey-hailey disease do not: An experimental, matched case-control study

P Curman, B Johanna, S Linnea… - Acta Dermato …, 2021 - pmc.ncbi.nlm.nih.gov
Darier disease and Hailey-Hailey disease are severe, monogenetic dermatological
disorders with mutations affecting all cells, making them liable to exhibit extra-dermal …

Darier disease is associated with neurodegenerative disorders and epilepsy

P Curman, W Jebril, H Larsson, E Bachar-Wikstrom… - Scientific Reports, 2024 - nature.com
Darier disease (DD) is a rare monogenetic skin disorder with limited data on its potential
association with neurological disorders. This study aimed to investigate the association …

Increased risk of cardiac arrhythmia in Hailey-Hailey disease patients

W Jebril, P Curman, DC Andersson, H Larsson… - PloS one, 2024 - journals.plos.org
Background Hailey-Hailey disease (HHD) is a rare autosomal dominant skin disease
caused by mutations in the ATP2C1 gene, which encodes the secretory Ca2+/Mn2+-ATPase …

Patients with Darier disease have an increased risk of keratinocyte carcinoma: a Swedish registry-based nationwide cohort study

R Inci, M Gillstedt, RA Kallionpää, S Peltonen… - Orphanet journal of rare …, 2024 - Springer
Darier disease is a genodermatosis which manifests as hyperkeratotic papules and
superficial erosions mainly in seborrheic skin areas. This retrospective registry-based cohort …

Emerging evidence for poxvirus‐mediated unfolded protein response: Lumpy skin disease virus maintains self‐replication by activating PERK and IRE1 signaling

J Tan, Y Liu, F Yang, G Chen, Y Fang, X He… - The FASEB …, 2023 - Wiley Online Library
The monkeypox epidemic has attracted global attention to poxviruses. The cytoplasmic
replication of poxviruses requires extensive protein synthesis, challenging the capacity of …

Targeting of Th17-related cytokines in patients with Darier Disease

M Ettinger, T Burner, A Sharma, YT Chang, A Lackner… - medRxiv, 2023 - medrxiv.org
Darier disease (DD) is a rare, inherited multi-organ disorder associated with mutations in the
ATP2A2 gene. In DD patients, the skin is frequently affected, characterized by malodorous …

A transgenic mouse line for assaying tissue-specific changes in endoplasmic reticulum proteostasis

R Svarcbahs, SM Blossom, HS Baffoe-Bonnie… - Transgenic …, 2023 - Springer
Maintenance of calcium homeostasis is important for proper endoplasmic reticulum (ER)
function. When cellular stress conditions deplete the high concentration of calcium in the ER …