Results 21 to 30 of about 12,282 (232)
Darier’s Disease Complicated by Schizophrenia Caused by a Novel ATP2A2 Mutation
Acta Dermato Venereologica, 2016 Takuya Takeichi +5 more
openalex +4 more sources
Identification of therapeutic targets for Alzheimer’s Disease Treatment using bioinformatics and machine learning [PDF]
Scientific ReportsAlzheimer’s disease (AD) is a complex neurodegenerative disorder that currently lacks effective treatment options. This study aimed to identify potential therapeutic targets for the treatment of AD using comprehensive bioinformatics methods and machine ...
ZhanQiang Xie +8 more
doaj +2 more sources
Induced pluripotent stem cell-derived cardiac progenitors differentiate to cardiomyocytes and form biosynthetic tissues. [PDF]
, 2013 The mammalian heart has little capacity to regenerate, and following injury the myocardium is replaced by non-contractile scar tissue. Consequently, increased wall stress and workload on the remaining myocardium leads to chamber dilation, dysfunction ...
Bursac, N +5 more
core +19 more sources
Novel mutations in Darier disease and association to self-reported disease severity. [PDF]
PLoS ONE, 2017 Darier disease is a rare and severe autosomal dominant skin disease characterised by malodorous keratotic papules in seborrheic areas of the skin. Darier disease affects up to 1 in 30 000 people and is caused by mutations in the ATP2A2 gene, which ...
Ivone U S Leong +4 more
doaj +1 more source
International Journal of Dermatology and Venerology, 2020 . Introduction:. Darier's disease is a rare autosomal dominant skin disorder caused by mutations in ATP2A2. Recently, the high prevalence of neuropsychiatric symptoms is frequently reported in Darier's disease patients.
Chong Wang +4 more
doaj +1 more source
Бюллетень сибирской медицины, 2022 Aim. To investigate the relationship between the expression of Ca2+ handling proteins of the sarcoplasmic reticulum, polymorphic variants of their genes, and structural and functional parameters of the heart in patients with atrial fibrillation (AF ...
D. S. Kondratieva +4 more
doaj +1 more source
Spectrum of novel ATP2A2 mutations in patients with Darier's disease [PDF]
Human Molecular Genetics, 1999 Darier's disease (DD) is an autosomal dominantly inherited skin disorder characterized by loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. Recently, we identified ATP2A2 encoding the sarco/endoplasmic reticulum Ca(2+)ATPase isoform 2 as the defective gene in DD.
A, Sakuntabhai +3 more
openaire +2 more sources
Frontiers in Medicine, 2022 The patient was a 25-year-old man presented with cutaneous dirt-adherent disease with a past medical history of schizophrenia. Both the patient and his mother had Darier’s disease, genetic screening revealed that the patient carried a heterozygous ...
Qing Zhu +4 more
doaj +1 more source
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
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