Results 41 to 50 of about 12,282 (232)
SAGE Open Medical Case Reports, 2023 Darier’s disease is an autosomal dominant inherited skin disorder resulting from mutations in the ATP2A2 gene, which encodes SERCA2, an endoplasmic reticulum calcium ATPase.
Ahmed Mourad +2 more
doaj +1 more source
Darier-White disease and Psychiatric disorders: A Case Report
European Psychiatry, 2022 Introduction Darier-White disease (DD) is a rare genodermatosis of dominant autosomic inheritance characterized by the keratinization of epidermis, nails and mucous membrane.
R.L. Esteve +3 more
doaj +1 more source
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease
Nature Genetics, 1999 Darier disease (DD) is an autosomal-dominant skin disorder characterized by loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. Recently we constructed a 2.4-Mb, P1-derived artificial chromosome contig spanning the DD candidate region on chromosome 12q23-24.1. After screening several genes that mapped to this region, we
Sakuntabhai, A +16 more
openaire +4 more sources
Guttate leukoderma and acrokeratosis verruciformis of Hopf: a rare combination in Darier disease [PDF]
, 2020 A distinct Darier phenotype presenting with confetti-like hypopigmented macules was first described in 1965. Designated as "guttate leukoderma," this skin finding is a rarely-reported presentation of Darier disease.
Grossman, Shoshana K +4 more
core
Oncogenic K-Ras suppresses IP3-dependent Ca2+ release through remodeling of IP3Rs isoform composition and ER luminal Ca2+ levels in colorectal cancer cell lines [PDF]
, 2014 The GTPase Ras is a molecular switch engaged downstream of G-protein coupled receptors and receptor tyrosine inases that controls multiple cell fate-determining signalling athways.
Bootman, Martin D. +4 more
core +2 more sources
JCI Insight, 2021 Clinical phenotyping of term and preterm labor is imprecise, and disagreement persists on categorization relative to underlying pathobiology, which remains poorly understood.
William E. Ackerman IV +5 more
doaj +1 more source
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 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
JCI Insight, 2023 Mutation of the ATP2A2 gene encoding sarco-endoplasmic reticulum calcium ATPase 2 (SERCA2) was linked to Darier disease more than 2 decades ago; however, there remain no targeted therapies for this disorder causing recurrent skin blistering and ...
Shivam A. Zaver +7 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