1 to 10 of 14 literature results

• Harmonin mutations cause mechanotransduction defects in cochlear hair cells.

  In hair cells, mechanotransduction channels are gated by tip links, the extracellular filaments that consist of cadherin 23 (CDH23) and protocadherin …

  Authors: Nicolas Grillet, Wei Xiong, Anna Reynolds, Piotr Kazmierczak, Takashi Sato, Concepcion Lillo, Rachel A Dumont, Edith Hintermann, Anna Sczaniecka, Martin Schwander,…

  Source: Neuron. 2009 May 14

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• Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.

  Hearing loss is the most common form of sensory impairment in humans and is frequently progressive in nature. Here we link a previously uncharacterize…

  Authors: Nicolas Grillet, Martin Schwander, Michael S Hildebrand, Anna Sczaniecka, Anand Kolatkar, Janice Velasco, Jennifer A Webster, Kimia Kahrizi, Hossein Najmabadi, William J Kimberling,…

  Source: American journal of human genetics. 2009 Sep

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• Beta1 integrins regulate myoblast fusion and sarcomere assembly.

  The mechanisms that regulate the formation of multinucleated muscle fibers from mononucleated myoblasts are not well understood. We show here that ext…

  Authors: Martin Schwander, Marco Leu, Michael Stumm, Olivier M Dorchies, Urs T Ruegg, Johannes Schittny, Ulrich Müller

  Source: Developmental cell. 2003 May

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• A novel allele of myosin VIIa reveals a critical function for the C-terminal FERM domain for melanosome transport in retinal pigment epithelial cells.

  Mutations in the head and tail domains of the motor protein myosin VIIA (MYO7A) cause deaf-blindness (Usher syndrome type 1B, USH1B) and nonsyndromic …

  Authors: Martin Schwander, Vanda Lopes, Anna Sczaniecka, Daniel Gibbs, Concepcion Lillo, David Delano, Lisa M Tarantino, Tim Wiltshire, David S Williams, Ulrich Müller

  Source: The Journal of neuroscience : the official journal of the Society for Neuroscience. 2009 Dec 16

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• The mechanotransduction machinery of hair cells.

  Mechanotransduction, the conversion of mechanical force into an electrochemical signal, allows living organisms to detect touch, hear, register moveme…

  Authors: Nicolas Grillet, Piotr Kazmierczak, Wei Xiong, Martin Schwander, Anna Reynolds, Hirofumi Sakaguchi, Joshua Tokita, Bechara Kachar, Ulrich Müller

  Source: Science signaling. 2009

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• Progressive myopathy and defects in the maintenance of myotendinous junctions in mice that lack talin 1 in skeletal muscle.

  The development and function of skeletal muscle depend on molecules that connect the muscle fiber cytoskeleton to the extracellular matrix (ECM). beta…

  Authors: Francesco J Conti, Amanda Felder, Sue Monkley, Martin Schwander, Malcolm R Wood, Richard Lieber, David Critchley, Ulrich Müller

  Source: Development (Cambridge, England). 2008 Jun

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• Sphingosine 1-phosphate (S1P) signaling is required for maintenance of hair cells mainly via activation of S1P2.

  Hearing requires the transduction of vibrational forces by specialized epithelial cells in the cochlea known as hair cells. The human ear contains a f…

  Authors: Deron R Herr, Nicolas Grillet, Martin Schwander, Richard Rivera, Ulrich Müller, Jerold Chun

  Source: The Journal of neuroscience : the official journal of the Society for Neuroscience. 2007 Feb 7

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• Integrin-linked kinase stabilizes myotendinous junctions and protects muscle from stress-induced damage.

  Skeletal muscle expresses high levels of integrin-linked kinase (ILK), predominantly at myotendinous junctions (MTJs) and costameres. ILK binds the cy…

  Authors: Hao-Ven Wang, Ling-Wei Chang, Klara Brixius, Sara A Wickström, Eloi Montanez, Ingo Thievessen, Martin Schwander, Ulrich Müller, Wilhelm Bloch, Ulrike Mayer,…

  Source: The Journal of cell biology. 2008 Mar 10

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• A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells.

  Deafness is the most common form of sensory impairment in humans and is frequently caused by single gene mutations. Interestingly, different mutations…

  Authors: Martin Schwander, Wei Xiong, Joshua Tokita, Andrea Lelli, Heather M Elledge, Piotr Kazmierczak, Anna Sczaniecka, Anand Kolatkar, Tim Wiltshire, Peter Kuhn,…

  Source: Proceedings of the National Academy of Sciences of the United States of America. 2009 Mar 31

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• Beta1 integrins in muscle, but not in motor neurons, are required for skeletal muscle innervation.

  In vitro studies have provided evidence that beta1 integrins in motor neurons promote neurite outgrowth, whereas beta1 integrins in myotubes regulate …

  Authors: Martin Schwander, Ryuichi Shirasaki, Samuel L Pfaff, Ulrich Müller

  Source: The Journal of neuroscience : the official journal of the Society for Neuroscience. 2004 Sep 15

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