Results 11 to 20 of about 2,278 (176)
BiomedicinesDarier disease (DD) is an autosomal dominant disorder due to pathogenic variants of the ATP2A2 gene that causes an isolated skin manifestation based on keratinocyte disconnection and apoptosis.
Andrea Frustaci +8 more
doaj +3 more sources
Role of Sp1 in Transcription of Human ATP2A2 Gene in Keratinocytes [PDF]
Journal of Investigative Dermatology, 2008 The ATP2A2 gene encodes Ca2+-dependent ATPase, the dysfunction of which causes Darier disease. In this study, we analyzed the promoter structure of the human ATP2A2 gene using primary normal human keratinocytes (NHK). Reporter assays showed that deletion of -550/-529, -488/-472, -390/-362, or -42/-21 resulted in a significant decrease in human ATP2A2 ...
Takagi, Atsushi +12 more
openaire +2 more sources
Exclusion of the Darier's disease gene, ATP2A2, as a common susceptibility gene for bipolar disorder [PDF]
Molecular Psychiatry, 2000 Bipolar affective disorder is a genetically complex psychiatric disorder with a population prevalence of approximately 1%. We have previously reported cosegregation of bipolar affective disorder and Darier's disease, a dominant skin disorder with a neuropsychiatric component.
N J, Jacobsen +7 more
openaire +2 more sources
Transcriptome analyses reveal reduced hepatic lipid synthesis and accumulation in more feed efficient beef cattle [PDF]
, 2018 peer-reviewedThe genetic mechanisms controlling residual feed intake (RFI) in beef cattle are still largely unknown. Here we performed whole transcriptome analyses to identify differentially expressed (DE) genes and their functional roles in liver ...
Fitzsimmons, Carolyn +6 more
core +3 more sources
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
Cerebellar Cortex, Purkinje Cell Layer [PDF]
, 2008 This report contains a summary of expression patterns for genes that are enriched in the Purkinje cell layer (CBXpu) of the cerebellum. All data is derived from the Allen Brain Atlas (ABA) in situ hybridization mouse project.
Allen Institute for Brain Science +3 more
core +2 more sources
Epigallocatechin-3 gallate prevents pressure overload-induced heart failure by up-regulating SERCA2a via histone acetylation modification in mice. [PDF]
PLoS ONE, 2018 Heart failure is a common, costly, and potentially fatal condition. The cardiac sarcoplasmic reticulum Ca-ATPase (SERCA2a) plays a critical role in the regulation of cardiac function.
Lifei Liu +5 more
doaj +1 more source
Identification, Selection, and Enrichment of Cardiomyocyte Precursors [PDF]
, 2013 The large-scale production of cardiomyocytes is a key step in the development of cell therapy and tissue engineering to treat cardiovascular diseases, particularly those caused by ischemia.
Gomes, Walter José +2 more
core +3 more sources
Identification of two novel Darier disease-associated mutations in the ATP2A2 gene
Molecular Medicine Reports, 2015 Darier disease (DD) is an autosomal dominant inherited skin disorder, characterized by abnormal keratinization, loss of adhesion between epidermal cells, termed acantholysis, and the development of warty papules and plaques on the central trunk, forehead, scalp and flexures.
ZHENG, LIBAO +3 more
openaire +3 more sources