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
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Novel ATP2A2 Gene Mutation c.118G>A Causing Keratinocyte and Cardiomyocyte Disconnection in Darier Disease [PDF]
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
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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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LARP1 acts as a key mediator in preventing angiotensin II-induced cardiac dysfunction and fibrosis [PDF]
Cell & BioscienceBackground Cardiac remodeling underlies many cardiovascular diseases and is characterized by cardiomyocyte hypertrophy, apoptosis, and interstitial fibrosis, leading to structural and functional deterioration of the heart.
Haikuo Zheng, Chuang Yang
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Personalized Response to Empagliflozin in Heart Failure: Association of BDNF and ATP2A2 Variants in a South Asian Cohort [PDF]
BiomedicinesBackground: Empagliflozin, a sodium–glucose cotransporter 2 (SGLT2) inhibitor, improves outcomes in heart failure (HF) patients, yet inter-individual variability in response remains unclear.
Qura Tul Ain +10 more
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Association of Somatic ATP2A2 Damaging Variants With Grover Disease
JAMA Dermatology, 2023 ImportanceGrover disease (GD), a truncal eruption that typically occurs in older individuals, is exacerbated by sweating, irradiation, cancers, medications, kidney failure, and organ transplantation. The pathobiology of GD remains unknown.ObjectiveTo determine if damaging somatic single-nucleotide variants (SNVs) are associated with GD.Design, Setting,
Devin Seli +7 more
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“Clinical Overlap of Darier's Disease and Acrokeratosis Verruciformis of Hopf”: A Case Report [PDF]
Clinical Case ReportsDarier's disease and Acrokeratosis Verruciformis of Hopf can exhibit overlapping clinical features due to mutations in the same ATP2A2 gene. Recognizing this genetic and phenotypic overlap is crucial for accurate diagnosis, genetic counseling, and ...
Mahesh Mathur +5 more
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Mosaicism for ATP2A2 Mutations Causes Segmental Darier's Disease [PDF]
Journal of Investigative Dermatology, 2000 Epidermal naevi are localized malformations of the epidermis consisting of verrucoid scaly papules and plaques following Blaschko's lines. Genetic mosaicism has been proposed to underlie the development of linear epidermal naevi. Rarely, epidermal naevi show acantholytic histology similar to Darier's disease, a dominantly inherited skin condition ...
Anavaj Sakuntabhai +3 more
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Novel and recurrent ATP2A2 mutations in Japanese patients with Darier's disease.
Nagoya journal of medical science, 2016 Darier's disease (DD, keratosis follicularis: OMIM#124200) is an autosomal dominant skin disorder characterized by multiple dark brown keratotic plaques and warty papules covered by thick crusts. Most cases of DD are caused by mutations in ATP2A2, which is expressed in both the skin and the brain.
Kana Noda +13 more
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