Results 121 to 130 of about 2,278 (176)

Physical mapping of the ATP2A2 gene to equine chromosome 8p14-->p12 by FISH and confirmation by linkage and RH mapping

Cytogenetic and genome research, 2006
Müller, D, Kuiper, H, Mömke, S, Böneker, C, Drögemüller, Cord, Swinburne, J E, Binns, M, Chowdhary, B P, Distl, O   +8 more
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Extensive Darier disease accompanied by pterygium and scoliosis in a patient with a start codon mutation of the ATP2A2 gene

Indian Journal of Dermatology, Venereology and Leprology
Deyu, Song, Jia, Geng, Qin, Yi, Hongjie, Liu, Sheng, Wang, Xian, Jiang   +5 more
openaire   +2 more sources

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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
openaire   +2 more sources

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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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
openaire   +2 more sources

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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The ATP2A2 gene in patients with Darier’s disease: one novel splicing mutation

International Journal of Dermatology, 2012
AbstractBackground  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, Mei, Xue, Gui-Shu, Zhong, Yang, Jiang, De-Yu, Chen, Jie, Feng, Jing, Hao, Qing-Chun, Diao   +7 more
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Identification of mutations in the ATP2A2 gene in patients with Darier's disease from Hungary

Experimental Dermatology, 2004
Abstract:  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, Csikós, M, Kornsée, Z, Horváth, A, Kárpáti, S   +4 more
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Mutational analysis of the ATP2A2 gene in two Darier disease families with intrafamilial variability

British Journal of Dermatology, 2004
Darier disease (DD), an autosomal dominant genodermatosis characterized by warty papules and plaques over seborrhoeic areas, is caused by mutations in the ATP2A2 gene, which encodes the sarco/endoplasmic reticulum Ca(2+) ATPase type 2 isoform (SERCA2).
T, Onozuka, D, Sawamura, K, Yokota, H, Shimizu   +3 more
openaire   +2 more sources