Results 131 to 140 of about 2,278 (176)

A novel splice-site mutation of ATP2A2 gene in a Chinese family with Darier disease

Archives of Dermatological Research, 2010
Darier disease (DD; OMIM 124200) is a rare, autosomal dominant hereditary skin disorder characterized by abnormal keratinization and acantholysis. The causes of DD are defects in the ATP2A2 gene, which encodes the sarco/endoplasmic reticulum Ca(2+) ATPase isoform 2 (SERCA2).
Jia, Huo, Yan, Liu, Junhong, Ma, Shengxiang, Xiao   +3 more
openaire   +2 more sources

microRNA‐151–3p Regulates Slow Muscle Gene Expression by Targeting ATP2a2 in Skeletal Muscle Cells

Journal of Cellular Physiology, 2015
MicroRNAs (miRNAs) are a group of small noncoding RNAs that regulate the stability or translation of cognate mRNAs at the post‐transcriptional level. Accumulating evidence indicates that miRNAs play important roles in many aspects of muscle function, including muscle growth and development, regeneration, contractility, and muscle fiber type plasticity.
Huan, Wei, Zhongwen, Li, Xiaobin, Wang, Jie, Wang, Weijun, Pang, Gongshe, Yang, Qingwu W, Shen   +6 more
openaire   +2 more sources

Molecular characterization of the equine <i>ATP2A2</i> gene

Cytogenetic and Genome Research, 2007
The mammalian <i>ATP2A2</i> gene encodes a P-type cation pump located in the sarcoplasmic or endoplasmic reticula of muscle cells. We isolated one bacterial artificial chromosome (BAC) clone containing the equine <i>ATP2A2</i> gene and determined the complete coding sequence of this gene.
S. Mömke, O. Distl
openaire   +1 more source

Two novel mutations in the ATP2A2 gene in Chinese patients with Darier disease

European Journal of Dermatology, 2009
Auteur(s) : Jia Huo, XiaoPeng Wang, YingYing Dong, JiaWen Wu, XiaoLi Li, Yan Liu, SengXiang Xiao Department of Dermatology, the Second Hospital, Xi’an Jiaotong University, Xi’an, Shaanxi, 710004, R.P. China Darier disease (DD; OMIM 124200) is a rare autosomal dominant hereditary skin disorder characterized by warty papules and plaques on the seborrheic
Jia Huo, XiaoPeng Wang, YingYing Dong, JiaWen Wu, XiaoLi Li, Yan Liu, SengXiang Xiao   +6 more
openaire   +1 more source

A novel missense mutation of the ATP2A2 gene in a Chinese family with Darier?s disease

Archives of Dermatological Research, 2004
Darier's disease (DD) 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 DD.
Sen, Yang, Liang-Dan, Sun, Hong-Sheng, Liu, Ji-Yun, Wang, Ping-Ping, He, Ming, Li, Min, Gao, Jiang-Bo, Liu, Jie, Yang, Zai-Xing, Wang, Yi-Yuan, Zhu, Da, Lin, Xue-Jun, Zhang   +12 more
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Expression of the Ca2+-ATPase SERCA2a (ATP2A2) Gene and the Ryanodine Receptor (RYR2) Gene in Patients with Chronic Heart Failure

Russian Journal of Genetics, 2020
The analysis of the relative expression of the Ca2+-ATPase SERCA2a gene (ATP2A2) and the ryanodine receptor (RYR2) gene in the myocardium of 85 patients with coronary artery disease complicated by heart failure, depending on the clinical picture of the disease, was performed.
E. F. Muslimova, T. Yu. Rebrova, D. S. Kondratieva, Sh. D. Akhmedov, S. A. Afanasiev   +4 more
openaire   +1 more source

Molecular characterization of the equine ATP2A2 gene.

Cytogenetic and genome research, 2007
The mammalian ATP2A2 gene encodes a P-type cation pump located in the sarcoplasmic or endoplasmic reticula of muscle cells. We isolated one bacterial artificial chromosome (BAC) clone containing the equine ATP2A2 gene and determined the complete coding sequence of this gene.
S, Mömke, O, Distl
openaire   +1 more source

Novel mutation of the ATP2A2 gene in a case of Darier's disease featuring erosive lesions

European Journal of Dermatology, 2015
Darier's disease (DD) is caused by defects in the ATP2A2 gene on chromosome 12q23-24.1, which encodes the sarco/endoplasmic reticulum Ca2+ ATPase isoform 2 (SERCA2) [1]. Here we report a novel mutation of ATP2A2 in a sporadic case of DD featuring erosive skin lesions.A 46-year-old woman presented with brown keratotic plaques surrounded by crusted, red ...
Arisa Akagi, Akihiko Kitoh, Yutaka Shimomura, Yoshiki Miyachi, Kenji Kabashima   +4 more
openaire   +1 more source

Persistent Cutaneous Lesions of Darier Disease and Second-Hit Somatic Variants in ATP2A2 Gene

JAMA Dermatology
ImportanceDarier disease (DD) is a rare genetic skin disorder caused by heterozygous variants in the ATP2A2 gene. Clinical manifestations include recurrent hyperkeratotic papules and plaques that occur mainly in seborrheic areas. Although some of the lesions wax and wane in response to environmental factors, others are severe and respond poorly to ...
Lihi, Atzmony, Fadia, Zagairy, Banan, Mawassi, Majd, Shehade, Yasmin, Tatour, Nada, Danial-Farran, Morad, Khayat, Nassim, Warrour, Roni, Dodiuk-Gad, Eran, Cohen-Barak   +9 more
openaire   +2 more sources

No indications for HPV involvement in the hypertrophic skin lesions of a Darier disease case without ATP2A2 gene mutations

Journal of Cutaneous Pathology, 2009
Darier disease (DD) is a relatively common genodermatosis characterized by impaired differentiation and abnormal cell‐to‐cell adhesion. Haploinsufficiency of the ATP2A2 gene product, sarco/endoplasmic reticulum Ca2+ ATPase isoform 2 (SERCA2), is the underlying cause of most cases.
Borgogna C, Zavattaro E, DELL'OSTE, Valentina, Mondini M, Valente G, Colombo E, Weissenborn S, Leigheb G, LANDOLFO, Santo Giuseppe, Gariglio M.   +9 more
openaire   +3 more sources