Darier disease in Slovenia: spectrum of ATP2A2 mutations and relation to patients’ phenotypes
European Journal of Dermatology, 2010ATP2A2 encodes the sarco/endoplasmic reticulum Ca2+- ATPase (SERCA2) and has been identified as a defective gene in Darier disease (DD). It is an autosomal dominant genodermatosis, which is characterized by loss of adhesion between suprabasal epidermal keratinocytes (acantholysis) and abnormal keratinization (dyskeratosis).
Aleksandar, Godic +5 more
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A novel ATP2A2 mutation in Darier and genotype phenotype: correlation analysis
Genes & GenomicsDarier's disease (DD) is a skin disorder caused by mutations in the ATP2A2 gene. Researchers have been investigating the correlation between genotype and phenotype in DD. Understanding the genotype-phenotype relationship in DD can enhance our comprehension of the genetic background and phenotypic characteristics of the condition, as well as the ...
Xiaofen Guo +13 more
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The ATP2A2 gene in patients with Darier’s disease: one novel splicing mutation
International Journal of Dermatology, 2012AbstractBackground Darier’s disease (DD) is a rare, inherited skin disorder characterized by warty papules and plaques over the seborrheic area, such as central trunk, flexures, scalp, and forehead. Mutations in ATP2A2 gene encoding the enzyme sarco/endoplasmic reticulum Ca2+ATPase type 2 are responsible for the disease.
Bing-Jun, Shi +7 more
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A Japanese case of segmental Darier's disease caused by mosaicism for the ATP2A2 mutation
British Journal of Dermatology, 2003Darier's disease is an autosomal dominant skin disorder that is characterized by multiple keratotic papules, focal loss of adhesion and abnormal keratinization. Mutations in the ATP2A2 gene encoding sarco/endoplasmic reticulum calcium pumping ATPase type 2 have been identified as the molecular basis of Darier's disease.
T, Wada +6 more
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Identification of mutations in the ATP2A2 gene in patients with Darier's disease from Hungary
Experimental Dermatology, 2004Abstract: Mutation analysis in the ATP2A2 gene had been performed in eight Hungarian patients with Darier's disease (DD), to get more information about phenotype–genotype relations. All patients had moderate to severe skin symptoms. Polymerase chain reaction (PCR) amplification of the entire coding region of ATP2A2 was performed.
Rácz, E +4 more
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Late-onset comedonal Darier disease with a novel frameshift mutation in ATP2A2
European Journal of Dermatology, 2023Masakazu, Kakurai +4 more
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Novel ATP2A2 nonsense mutation in a Japanese case with Darier's disease
The Journal of Dermatology, 2021Eri Yonezawa +6 more
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Familial comedonal Darier's disease: a new ATP2A2 mutation with intra‐family clinical heterogeneity
International Journal of Dermatology, 2023Maria B. Civico‐Ruiz +5 more
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Ca 2+-dependent ATP2A2 pathway in tumorigenesis: an update
Academic Journal of Second Military Medical University, 2013Hong-zhu YAN +5 more
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Mutation analysis of the ATP2A2 gene in Chinese patients with Darier’s disease
Journal of the European Academy of Dermatology and Venereology, 2011X, Fu, H, Liu, X, Yan, Y, Yu, F, Zhang
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