Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.

PubWeight™: 0.78‹?›

🔗 View Article (PMID 27843126)

Published in Am J Hum Genet on October 27, 2016

Authors

Andrea Delle Vedove1, Markus Storbeck1, Raoul Heller2, Irmgard Hölker1, Malavika Hebbar3, Anju Shukla3, Olafur Magnusson4, Sebahattin Cirak5, Katta M Girisha3, Mary O'Driscoll6, Bart Loeys7, Brunhilde Wirth8

Author Affiliations

1: Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany; Institute for Genetics, University of Cologne, 50674 Cologne, Germany.
2: Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany.
3: Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka 576104, India.
4: deCODE genetics, 101 Reykjavik, Iceland.
5: Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany; Children's Hospital, University Hospital of Cologne, 50931 Cologne, Germany.
6: Birmingham Women's NHS Foundation Trust, Birmingham T15 2TH, UK.
7: Antwerp University Hospital, 2650 Edegem, Belgium.
8: Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany; Institute for Genetics, University of Cologne, 50674 Cologne, Germany. Electronic address: brunhilde.wirth@uk-koeln.de.

Articles cited by this

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance. Trends Biochem Sci (1998) 9.06

Unproductive splicing of SR genes associated with highly conserved and ultraconserved DNA elements. Nature (2007) 7.12

Protein-protein interactions and 5'-splice-site recognition in mammalian mRNA precursors. Nature (1994) 6.97

Piezo1 and Piezo2 are essential components of distinct mechanically activated cation channels. Science (2010) 6.29

Piezo proteins are pore-forming subunits of mechanically activated channels. Nature (2012) 3.54

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. Nat Genet (2004) 2.82

The proprioceptive senses: their roles in signaling body shape, body position and movement, and muscle force. Physiol Rev (2012) 2.62

Calcium entry through stretch-inactivated ion channels in mdx myotubes. Nature (1990) 2.59

Piezo2 is required for Merkel-cell mechanotransduction. Nature (2014) 2.45

A revised and extended classification of the distal arthrogryposes. Am J Med Genet (1996) 2.30

Molecular mechanisms of mechanotransduction in mammalian sensory neurons. Nat Rev Neurosci (2011) 2.12

Mechanical transduction by rat dorsal root ganglion neurons in vitro. Neurosci Lett (1999) 2.11

Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet (2001) 2.00

U1 snRNP-ASF/SF2 interaction and 5' splice site recognition: characterization of required elements. Nucleic Acids Res (1995) 1.77

Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron (1996) 1.58

Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment. Am J Med Genet A (2011) 1.39

Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. Proc Natl Acad Sci U S A (2013) 1.34

Inflammatory signals enhance piezo2-mediated mechanosensitive currents. Cell Rep (2012) 1.32

Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Ann Neurol (2003) 1.26

Human splicing factor ASF/SF2 encodes for a repressor domain required for its inhibitory activity on pre-mRNA splicing. J Biol Chem (2002) 1.22

The gentle touch receptors of mammalian skin. Science (2014) 1.15

Piezo2 is the principal mechanotransduction channel for proprioception. Nat Neurosci (2015) 1.10

Pressure-clamp: a method for rapid step perturbation of mechanosensitive channels. Pflugers Arch (1992) 1.08

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. Am J Hum Genet (2014) 1.03

Piezo proteins: regulators of mechanosensation and other cellular processes. J Biol Chem (2014) 1.01

Piezo channels: from structure to function. Pflugers Arch (2014) 0.99

TRPA1 channels: molecular sentinels of cellular stress and tissue damage. J Physiol (2016) 0.98

Mechanism, factors, and physiological role of nonsense-mediated mRNA decay. Cell Mol Life Sci (2015) 0.96

Pulmonary disease is a component of distal arthrogryposis type 5. Am J Med Genet A (2007) 0.95

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations. Eur J Hum Genet (2013) 0.85

Cochlear hair cells: The sound-sensing machines. FEBS Lett (2015) 0.84

Marden-Walker syndrome versus isolated distal arthrogryposis: evidence that both conditions may be variable manifestations of the same mutated gene. Clin Genet (1998) 0.81

A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation. Am J Med Genet A (2015) 0.81

Afferent Innervation, Muscle Spindles, and Contractures Following Neonatal Brachial Plexus Injury in a Mouse Model. J Hand Surg Am (2015) 0.79

The force within: endocardial development, mechanotransduction and signalling during cardiac morphogenesis. Development (2016) 0.77