Results 31 to 40 of about 12,282 (232)
Российский кардиологический журнал, 2019 Aim. To study the association between polymorphic rs1860561 variants of Ca(2+)-ATPase SERCA2a (ATP2A2) gene and rs3766871 of ryanodine receptor (RYR2) gene and the severity of chronic heart failure (CHF).Material and methods.
E. F. Muslimova +6 more
doaj +1 more source
Naltrexone, a therapeutic alternative in Darier disease
Revista Médica del Hospital General de México, 2021 Darier disease is a clinically variable rare disease with autosomal dominant inheritance caused by mutations in ATP2A2 gene. It affects skin, mucous membranes, and nails.
Dennise L. Smith-Pellegrin +5 more
doaj +1 more source
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
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
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
Beyond the skin involvement in Darier disease: A complicated neuropsychiatric phenotype
Clinical Case Reports, 2021 Psichiatric illness such as depression, schizophrenia and cognitive deficiency are frequently associated with the Darier Disease. Physicians should be aware of such association to allow prompt diagnosis and early interventions of potentially life ...
Federica Li Pomi +7 more
doaj +1 more source
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
Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort
Advanced Genetics, 2023 Interstitial cystitis/bladder pain syndrome (IC/BPS) is a chronic pain disorder causing symptoms of urinary frequency, urgency, and bladder discomfort or pain.
Elicia Estrella +13 more
doaj +1 more source
Darier's disease and Schizophrenia- A case report
Kerala Journal of Psychiatry, 2021 Darier's disease is a rare autosomal dominant genodermatosis. There is a specific mutation in the ATP2A2 gene on chromosome 12q. Several neuropsychiatric manifestations have been described in association with Darier's disease.
Rahul Thovarayi +2 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