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Regulación por calcio de la expresión del GEN ATP2A2 en cardiomiocitos

, 2019
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Darier disease – novel mutations in ATP2A2 and genotype–phenotype correlation

Experimental Dermatology, 2001
Abstract: Darier disease (DD) is with a frequency of up to 1 in 36,000 a relatively common genodermatosis with autosomal dominant inheritance and late age of onset. The progressive skin manifestations are variable, but often debilitating and disfiguring, and may be associated with a wide range of neuropsychiatric problems, such as epilepsy and ...
F, Ringpfeil, A, Raus, J J, DiGiovanna, B, Korge, W, Harth, C, Mazzanti, J, Uitto, S J, Bale, G, Richard   +8 more
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Four novel ATP2A2 mutations in Slovenian patients with Darier disease

Journal of the American Academy of Dermatology, 2010
Darier disease (DD) is an autosomal dominant genodermatosis caused by mutations in the ATP2A2 gene. It has been reported that depletion of Ca(2+) stores within the endoplasmic reticulum of keratinocytes is associated with impaired cell cycle regulation and terminal differentiation.
Aleksandar, Godic, Branka, Korosec, Jovan, Miljković, Aleksej, Kansky, Damjan, Glavac   +4 more
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Novel mutations of ATP2A2 gene in Japanese patients of Darier's disease

Journal of Dermatological Science, 2001
Darier's disease (DD) is a rare, dominantly inherited skin disorder with abnormal keratinization and acantholysis. Recently, mutations of ATP2A2 encoding the sarco/endoplasmic reticulum Ca(2+)-ATPase type 2 isoform (SERCA2) have been reported in Caucasian DD families.
H, Takahashi, Y, Atsuta, K, Sato, A, Ishida-Yamamoto, H, Suzuki, H, Iizuka   +5 more
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Novel mutations of the ATP2A2 gene in two families with Darier’s disease

Archives of Dermatological Research, 2008
Darier's disease (DD) is an autosomal dominant genodermatology. Mutations in the ATP2A2 gene encoding sarco-endoplasmic reticulum calcium pumping ATPase type 2 (SERCA2) have been identified as the molecular basis of DD. The aim of this study was to report two Chinese pedigree of DD and to explore the genetic mutations.
Bing-Jun, Shi, Jie, Feng, Cui-Cui, Ma, Xiao-Ning, Yan, Wen-Bin, Li, Yu-Ping, Wei, Gang, Hu, Xiang-Lan, Wang   +7 more
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miR-210-5p Promotes Pulmonary Hypertension by Blocking ATP2A2

Cardiovascular Drugs and Therapy
Aberrant expression of ATPase sarcoplasmic/endoplasmic retic Ca2+ transporting 2 (ATP2A2) has attracted attention for its pathophysiologic role in pulmonary hypertension (PH). Several miRNAs, including miR-210-5p, have also been reported to be pathogenic factors in PH, but their exact mechanisms remain unknown.
Boxiang Wang, Yidin Xu, Yilun Huang, Siming Shao, Dongshan Xu, Yiying Zhang, Lingxia Pang, Zhuofan Nan, Qianxi Ye, Yang Wang, Wantie Wang, Keke Jin, Linbo Yuan   +12 more
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Mutation analysis of the ATP2A2 gene in Taiwanese patients with Darier's disease

British Journal of Dermatology, 2002
Darier's disease (DD) is an autosomal dominant skin disorder characterized by abnormal keratinization and acantholysis. Pathogenic mutations in the ATP2A2 gene encoding SERCA2, a calcium pump of the sarco/endoplasmic reticulum, have recently been identified.To identify mutations of the ATP2A2 gene in Taiwanese patients with DD.Mutation analysis of ...
S-C, Chao, M-H, Yang, J Y-Y, Lee
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Alterations in the ATP2A2 gene in correlation with colon and lung cancer

Cancer Genetics and Cytogenetics, 2006
Sarcoendoplasmic reticulum calcium transport ATPases (SERCA-type calcium pumps), proteins that accumulate calcium in the endoplasmic reticulum, play an important role in numerous signaling pathways controlling tumor growth, differentiation, and cell death.
Branka, Korosec, Damjan, Glavac, Tomaz, Rott, Metka, Ravnik-Glavac   +3 more
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Seven novel mutations in the ATP2A2 gene of Austrian patients with Darier’s disease

Archives of Dermatological Research, 2011
Darier's disease (DD, OMIM 124200) is an autosomal dominant inherited genodermatosis characterized by warty papules and plaques in seborrheic areas, and loss of adhesion between suprabasal epidermal keratinocytes (acantholysis) and abnormal keratinisation (dyskeratosis).
A, Klausegger, E, Nischler, R N, Wagner, F, Pletschacher, H, Hintner, Johann W, Bauer   +5 more
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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
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