Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis
出版年份 2013 全文链接
标题
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis
作者
关键词
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出版物
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Volume 110, Issue 12, Pages 4667-4672
出版商
Proceedings of the National Academy of Sciences
发表日期
2013-03-05
DOI
10.1073/pnas.1221400110
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。- Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D
- (2012) Margaret J. McMillin et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis
- (2012) R. Zarychanski et al. BLOOD
- Piezo proteins are pore-forming subunits of mechanically activated channels
- (2012) Bertrand Coste et al. NATURE
- The role of Drosophila Piezo in mechanical nociception
- (2012) Sung Eun Kim et al. NATURE
- Inflammatory Signals Enhance Piezo2-Mediated Mechanosensitive Currents
- (2012) Adrienne E. Dubin et al. Cell Reports
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- (2011) Mark A DePristo et al. NATURE GENETICS
- Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
- (2010) William McLaren et al. BIOINFORMATICS
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1
- (2010) Christina A. Gurnett et al. HUMAN MOLECULAR GENETICS
- Damage-Induced Neuronal Endopeptidase Is Critical for Presynaptic Formation of Neuromuscular Junctions
- (2010) K. Nagata et al. JOURNAL OF NEUROSCIENCE
- De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
- (2010) Alexander Hoischen et al. NATURE GENETICS
- A de novo paradigm for mental retardation
- (2010) Lisenka E L M Vissers et al. NATURE GENETICS
- Stretch-Activated Ion Channels: What Are They?
- (2010) Frederick Sachs PHYSIOLOGY
- Piezo1 and Piezo2 Are Essential Components of Distinct Mechanically Activated Cation Channels
- (2010) B. Coste et al. SCIENCE
- Juvenile macular dystrophy and forearm pronation-supination restriction presenting with features of distal arthrogryposis type 5
- (2009) Marco Castori et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- Arthrogryposis and congenital absence of the anterior cruciate ligament: A case report
- (2008) Kenny Kwan et al. KNEE
- Accurate whole human genome sequencing using reversible terminator chemistry
- (2008) David R. Bentley et al. NATURE
- Mechanotransduction gone awry
- (2008) Diana E. Jaalouk et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- A Yeast Genetic Screen Reveals a Critical Role for the Pore Helix Domain in TRP Channel Gating
- (2008) Benjamin R. Myers et al. NEURON
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