【引用本文】牛旭平,李新华,韩齐心,等. ATP2A2基因突变致局限于头面颈部的毛囊角化病1例[J].中华皮肤科杂志,2024, e20230408. doi:10.35541/cjd.20230408 A case of Darier′s disease limited to the head and face induced by an ATP2...
Darier' s disease (DD) is an autosomal dominantly inherited skin disorder characterized by loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. To date, at least 140 mutations in the ATP2A2 gene have been identified as the genetic basis of DD. Here we reported ...
基因检测报告英文版基因简介 This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol into the sarcopla...
( ATP2A2 ) gene causes Darier disease, a skin disorder; and loss of one copy of the SPCA1 ( ATP2C1 ) gene causes Hailey-Hailey disease, another ... GE Shull,G Okunade,LH Liu,... - 《Annals of the New York Academy of Sciences》 被引量: 67发表: 2010年 加载更多来源...
This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol into the sarcoplasmic reticulum lumen, and ...
This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol into the sarcoplasmic reticulum lumen, and ...
aTo the Editor: Comedonal Darier disease (CDD) is a 对编辑: Comedonal Darier疾病 (CDD) 是a [translate] ahave been published so far, all but 1 involving 到目前为止被出版了,所有除了1介入 [translate] anot show mutations of the ATP2A2 gene. 正在翻译,请等待... [translate] ...
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This product contains 3 separate slightly different shRNA sequences which knock down rat ATP2A2 gene specifically. Each vial contains 50 μg of lyophilized shRNA. Target Rat ATP2A2 Reactivity Rat Host E. coli Tested Applications RNAi Form Lyophilized Specificity ATP2A2 shRNA Plasmid (Rat) ...
HPV analysis for a broad spectrum of cutaneous and mucocutaneous genotypes was performed on surgical specimens obtained from the cutaneous lesions and snap-frozen plucked eyebrows. Genetic analysis of the ATP2A2 gene did not detect any mutations. Epidermal expression of SERCA2b was 展开 ...