4.8 Article

Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis

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。
Article Genetics & Heredity

Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D

Margaret J. McMillin et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2013)

Article Multidisciplinary Sciences

Piezo proteins are pore-forming subunits of mechanically activated channels

Bertrand Coste et al.

NATURE (2012)

Article Multidisciplinary Sciences

The role of Drosophila Piezo in mechanical nociception

Sung Eun Kim et al.

NATURE (2012)

Article Cell Biology

Inflammatory Signals Enhance Piezo2-Mediated Mechanosensitive Currents

Adrienne E. Dubin et al.

CELL REPORTS (2012)

Article Genetics & Heredity

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A. DePristo et al.

NATURE GENETICS (2011)

Article Biochemical Research Methods

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

William McLaren et al.

BIOINFORMATICS (2010)

Article Biochemistry & Molecular Biology

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Aaron McKenna et al.

GENOME RESEARCH (2010)

Article Biochemistry & Molecular Biology

Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1

Christina A. Gurnett et al.

HUMAN MOLECULAR GENETICS (2010)

Article Genetics & Heredity

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

Alexander Hoischen et al.

NATURE GENETICS (2010)

Article Genetics & Heredity

A de novo paradigm for mental retardation

Lisenka E. L. M. Vissers et al.

NATURE GENETICS (2010)

Review Physiology

Stretch-Activated Ion Channels: What Are They?

Frederick Sachs

PHYSIOLOGY (2010)

Article Genetics & Heredity

Juvenile Macular Dystrophy and Forearm Pronation-Supination Restriction Presenting With Features of Distal Arthrogryposis Type 5

Marco Castori et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)

Article Biochemical Research Methods

Fast and accurate short read alignment with Burrows-Wheeler transform

Heng Li et al.

BIOINFORMATICS (2009)

Review Cell Biology

Mechanotransduction gone awry

Diana E. Jaalouk et al.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2009)

Article Multidisciplinary Sciences

Accurate whole human genome sequencing using reversible terminator chemistry

David R. Bentley et al.

NATURE (2008)

Article Genetics & Heredity

Pulmonary disease is a component of distal arthrogryposis type 5

Marc S. Williams et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)

Article Genetics & Heredity

Distal arthrogryposis 5: A dominant syndrome of peripheral contractures and ophthalmoplegia

RK Beals et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)

Article Genetics & Heredity

Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes

SS Sung et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2003)

Article Biochemistry & Molecular Biology

dbSNP: the NCBI database of genetic variation

ST Sherry et al.

NUCLEIC ACIDS RESEARCH (2001)