Results 21 to 30 of about 2,278 (176)
Darier disease: the use of dermoscopy in monitoring acitretin treatment
Anais Brasileiros de Dermatologia, 2022 Darier disease is an uncommon autosomal dominant inherited disease, caused by a mutation in the ATP2A2 gene. The clinical findings are hyperkeratotic papules on the trunk, scalp, face, and neck, maceration of intertriginous areas, palmar pits, whitish ...
Catalina Silva-Hirschberg +3 more
doaj +1 more source
The 4q25 variant rs13143308T links risk of atrial fibrillation to defective calcium homoeostasis [PDF]
, 2019 Aims: Single nucleotide polymorphisms on chromosome 4q25 have been associated with risk of atrial fibrillation (AF) but the exiguous knowledge of the mechanistic links between these risk variants and underlying electrophysiological alterations hampers ...
Benítez Iglesias, Raúl +9 more
core +2 more sources
Darier disease: first molecular study of a Portuguese family
Heliyon, 2019 Background: Darier disease (DD) is a rare autosomal dominant condition characterized by skin lesions. Additionally, a wide range of neuropsychiatric symptoms is frequently reported in DD patients.
Andreia Almeida +3 more
doaj +1 more source
Frontiers in Cell and Developmental Biology, 2022 Sarcoplasmic/endoplasmic reticulum calcium ATPase 2 (SERCA2) is a key player in cardiomyocyte calcium handling and also a classic target in the gene therapy for heart failure.
Junsen Lin +16 more
doaj +1 more source
Indian Journal of Paediatric Dermatology, 2023 Darier disease (DD) and acrokeratosis verruciformis of Hopf are rare autosomal dominant skin disorders. Both are caused by a single gene mutation, i.e., ATP2A2 located on chromosome 12, which is expressed in the skin and brain. However, both the diseases
Avinash Sharma +3 more
doaj +1 more source
Darier Disease – A Multi-organ Condition?
Acta Dermato-Venereologica, 2021 Darier disease is a severe, rare autosomal dominant inherited skin condition caused by mutations in the ATP2A2 gene encoding sarcoendoplasmic reticulum Ca2+-ATPase isoform 2 in the endoplasmic reticulum.
Etty Bachar-Wikström +1 more
doaj +1 more source
The Granulocyte colony-stimulating factor produces long-term changes on gene and miRNA expression profiles in CD34+ cells from healthy donors [PDF]
, 2014 Granulocyte colony-stimulating factor is the most commonly used cytokine for the mobilization of hematopoietic progenitor cells from healthy donors for allogeneic stem cell transplantation. Although the administration of this cytokine is considered safe,
Barbado González, Mª Victoria +8 more
core +2 more sources
The MafA transcription factor becomes essential to islet β-cells soon after birth [PDF]
, 2014 The large Maf transcription factors, MafA and MafB, are expressed with distinct spatial-temporal patterns in rodent islet cells. Analysis of Mafa(-/-) and pancreas-specific Mafa(∆panc) deletion mutant mice demonstrated a primary role for MafA in adult β ...
Benninger, Richard K. P. +10 more
core +1 more source
Darier-White disease in siblings responding to isotretinoin
Indian Dermatology Online Journal, 2010 Darier-White disease (keratosis follicularis) is a rare disorder of keratinization involving the epidermis, mucous membranes, and nails. It is said to occur as a result of mutation in the ATP2A2 gene located on chromosome 12q23-24.1.
Ramesh M Bhat +3 more
doaj +1 more source
Molecular Genetic Analysis of the ATP2A2 Gene as Candidate for Chronic Pastern Dermatitis in German Draft Horses [PDF]
Journal of Heredity, 2007 Chronic pastern dermatitis predominantly affects draft horses, and this condition is characterized by hyperkeratotic-hyperplastic dermal alterations. Chronic pastern dermatitis resembles the acral-hemorrhagic phenotype of Darier-White disease in humans. The ATP2A2 gene has been shown to be responsible for human Darier-White.
Stefanie, Mömke, Ottmar, Distl
openaire +2 more sources