Results 1 to 10 of about 2,278 (176)
Epigenetic switch at atp2a2 and myh7 gene promoters in pressure overload-induced heart failure. [PDF]
PLoS ONE, 2014 Re-induction of fetal genes and/or re-expression of postnatal genes represent hallmarks of pathological cardiac remodeling, and are considered important in the progression of the normal heart towards heart failure (HF).
Tiziana Angrisano +13 more
doaj +7 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 +23 more sources
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
Genes and Diseases, 2022 In the past studies, it is shown that cardiac troponin I (cTnI, encoded by TNNI3), as a cytoplasmic protein, is an inhibitory subunit in troponin complex, and involves in cardiomyocyte diastolic regulation.
Qian Lu +10 more
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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
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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
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
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
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
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
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