A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy
出版年份 2019 全文链接
标题
A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy
作者
关键词
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出版物
Disease Models & Mechanisms
Volume 13, Issue 2, Pages dmm041111
出版商
The Company of Biologists
发表日期
2019-10-30
DOI
10.1242/dmm.041111
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- A dual mechanism promotes switching of the Stormorken STIM1 R304W mutant into the activated state
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- STIM1 R304W causes muscle degeneration and impaired platelet activation in mice
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- STIM1 over-activation generates a multi-systemic phenotype affecting skeletal muscle, spleen, eye, skin, bones, and the immune system in mice
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- Role of Mechanotransduction and Tension in T Cell Function
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- Diseases caused by mutations inORAI1andSTIM1
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- Molecular determinants of TRPC1 regulation within ER–PM junctions
- (2015) Hwei Ling Ong et al. CELL CALCIUM
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- (2015) Thomas Markello et al. MOLECULAR GENETICS AND METABOLISM
- A novel STIM1 mutation at p.340 causes tubular aggregate myopathy with miosis without additional features of Stormorken syndrome
- (2015) E. Harris et al. NEUROMUSCULAR DISORDERS
- 50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation
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- Enhanced Ca2+ influx from STIM1–Orai1 induces muscle pathology in mouse models of muscular dystrophy
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- A Dominant STIM1 Mutation Causes Stormorken Syndrome
- (2014) Doriana Misceo et al. HUMAN MUTATION
- Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1
- (2014) Johann Böhm et al. JOURNAL OF MEDICAL GENETICS
- Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis
- (2014) V. Nesin et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Tubular aggregates in skeletal muscle: Just a special type of protein aggregates?
- (2011) Stefano Schiaffino NEUROMUSCULAR DISORDERS
- Immunodeficiency due to mutations in ORAI1 and STIM1
- (2010) Stefan Feske et al. CLINICAL IMMUNOLOGY
- A rotarod test for evaluation of motor skill learning
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- CRAC channelopathies
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