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Mutations in ATP2A2 in patients with Darier's disease.

作者信息

Ikeda Shigaku, Mayuzumi Nobuyasu, Shigihara Takako, Epstein Ervin H, Goldsmith Lowell A, Ogawa Hideoki

出版信息

J Invest Dermatol. 2003 Sep;121(3):475-7. doi: 10.1046/j.1523-1747.2003.12400.x.

DOI:10.1046/j.1523-1747.2003.12400.x
PMID:12925202
Abstract
摘要

相似文献

1
Mutations in ATP2A2 in patients with Darier's disease.毛囊角化病患者中ATP2A2基因的突变。
J Invest Dermatol. 2003 Sep;121(3):475-7. doi: 10.1046/j.1523-1747.2003.12400.x.
2
A Japanese case of segmental Darier's disease caused by mosaicism for the ATP2A2 mutation.一例因ATP2A2基因突变嵌合导致的节段性 Darier 病日本病例。
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3
Clinical case of acral hemorrhagic Darier's disease is not caused by mutations in exon 15 of the ATP2A2 gene.肢端出血性毛囊角化病的临床病例并非由ATP2A2基因第15外显子的突变引起。
Coll Antropol. 2003 Jun;27(1):125-33.
4
[Hopf's verruciform acrokeratosis and Darier's disease are related to mutations in the same gene, ATP2A2].
Ann Dermatol Venereol. 2004 Jan;131(1 Pt 1):104. doi: 10.1016/s0151-9638(04)93557-0.
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Mutations in the sarcoplasmic/endoplasmic reticulum Ca2+ ATPase isoform cause Darier's disease.肌浆网/内质网Ca2+ATP酶同工型的突变会导致毛囊角化病。
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6
Identification of mutations in the ATP2A2 gene in patients with Darier's disease from Hungary.
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7
Novel mutations of ATP2A2 gene in Japanese patients of Darier's disease.日本毛囊角化病患者中ATP2A2基因的新突变
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8
Three novel mutations in the ATP2A2 gene in Hungarian families with Darier's disease, including a novel splice site generating intronic nucleotide change.
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Mosaicism for ATP2A2 mutations causes segmental Darier's disease.ATP2A2基因突变的嵌合现象导致节段性 Darier 病。
J Invest Dermatol. 2000 Dec;115(6):1144-7. doi: 10.1046/j.1523-1747.2000.00182.x.
10
Darier's disease associated with cutis verticis gyrata, hyperprolactinaemia and depressive disorder.
Acta Derm Venereol. 2006;86(1):59-60. doi: 10.1080/00015550510043984.

引用本文的文献

1
A novel ATP2A2 mutation in Darier and genotype phenotype: correlation analysis.达里埃病中一种新的ATP2A2突变与基因型-表型的相关性分析
Genes Genomics. 2025 Jan;47(1):125-133. doi: 10.1007/s13258-024-01592-w. Epub 2024 Nov 11.
2
Temperature instability of a mutation at a multidomain junction in Na,K-ATPase isoform ATP1A3 (p.Arg756His) produces a fever-induced neurological syndrome.多结构域连接点突变导致的 Na,K-ATPase 同工酶 ATP1A3（p.Arg756His）温度不稳定，引发发热性神经综合征。
J Biol Chem. 2023 Jan;299(1):102758. doi: 10.1016/j.jbc.2022.102758. Epub 2022 Dec 1.
3
Darier Disease - A Multi-organ Condition?
Darier病——一种多器官疾病？
Acta Derm Venereol. 2021 Apr 15;101(4):adv00430. doi: 10.2340/00015555-3770.
4
A Darier disease mutation relieves kinetic constraints imposed by the tail of sarco(endo)plasmic reticulum Ca-ATPase 2b.一个 Darier 病突变缓解了肌浆内质网 Ca-ATPase 2b 尾部施加的动力学限制。
J Biol Chem. 2018 Mar 16;293(11):3880-3889. doi: 10.1074/jbc.RA117.000941. Epub 2018 Jan 23.
5
The Ca-ATPase pump facilitates bidirectional proton transport across the sarco/endoplasmic reticulum.钙-ATP酶泵促进质子在肌浆网/内质网中的双向运输。
Mol Biosyst. 2017 Mar 28;13(4):633-637. doi: 10.1039/c7mb00065k.
6
Novel and recurrent mutations in Japanese patients with Darier's disease.日本毛囊角化病患者的新型和复发性突变。
Nagoya J Med Sci. 2016 Dec;78(4):485-492. doi: 10.18999/nagjms.78.4.485.
7
Ionic leakage underlies a gain-of-function effect of dominant disease mutations affecting diverse P-type ATPases.离子渗漏是多种 P 型 ATP 酶的显性疾病突变导致功能获得效应的基础。
Nat Genet. 2014 Feb;46(2):144-51. doi: 10.1038/ng.2850. Epub 2013 Dec 15.
8
Ion pathways in the sarcoplasmic reticulum Ca2+-ATPase.肌浆网 Ca2+-ATP 酶中的离子通道。
J Biol Chem. 2013 Apr 12;288(15):10759-65. doi: 10.1074/jbc.R112.436550. Epub 2013 Feb 11.