PMC Links for Gene (Select 114102) - PMC

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Items: 17

Select item 28640261.

Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss

Konrad Noben-Trauth, Qing Yin Zheng, Kenneth R Johnson

Nat Genet. Author manuscript; available in PMC 2010 May 4.

Published in final edited form as: Nat Genet. 2003 Sep; 35(1): 21–23. Published online 2003 Aug 10. doi: 10.1038/ng1226

PMCID:: PMC2864026

Abstract Article PDF–306K

Select item 28582202.

Elizabeth M. Keithley, Cecilia Canto, Qing Yin Zheng, Nathan Fischel-Ghodsian, Kenneth R. Johnson

Hear Res. Author manuscript; available in PMC 2010 Apr 21.

Published in final edited form as: Hear Res. 2004 Feb; 188(1-2): 21–28. doi: 10.1016/S0378-5955(03)00365-4

PMCID:: PMC2858220

Abstract Article PDF–1.4M

Select item 28552943.

The Mass1^frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC

K.R. Johnson, Q.Y. Zheng, M.D. Weston, L.J. Ptacek, K. Noben-Trauth

Genomics. Author manuscript; available in PMC 2010 Apr 15.

Published in final edited form as: Genomics. 2005 May; 85(5): 582–590. doi: 10.1016/j.ygeno.2005.02.006

PMCID:: PMC2855294

Abstract Article PDF–640K

Select item 35916304.

Cyclic Nucleotide-gated Channel α-3 (CNGA3) Interacts with Stereocilia Tip-Link Cadherin 23 + Exon 68 or Alternatively with Myosin VIIa, Two Proteins Required for Hair Cell Mechanotransduction

Dakshnamurthy Selvakumar, Marian J. Drescher, Dennis G. Drescher

J Biol Chem. 2013 Mar 8; 288(10): 7215–7229. Published online 2013 Jan 17. doi: 10.1074/jbc.M112.443226

PMCID:: PMC3591630

Abstract Article PDF–2.2M

Select item 33109595.

SENSING SOUND: MOLECULES THAT ORCHESTRATE MECHANOTRANSDUCTION BY HAIR CELLS

Piotr Kazmierczak, Ulrich Müller

Trends Neurosci. Author manuscript; available in PMC 2013 Apr 1.

Published in final edited form as: Trends Neurosci. 2012 Apr; 35(4): 220–229. Published online 2011 Dec 15. doi: 10.1016/j.tins.2011.10.007

PMCID:: PMC3310959

Abstract Article PDF–2.2M

Select item 27438056.

Expression of cadherin 23 isoforms is not conserved: implications for a mouse model of Usher syndrome type 1D

Ayala Lagziel, Nora Overlack, Steven L. Bernstein, Robert J. Morell, Uwe Wolfrum, Thomas B. Friedman

Mol Vis. 2009; 15: 1843–1857. Published online 2009 Sep 12.

PMCID:: PMC2743805

Abstract Article PDF–8.3M

Select item 25645787.

Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%

A‐F Roux, V Faugère, S Le Guédard, N Pallares‐Ruiz, A Vielle, S Chambert, S Marlin, C Hamel, B Gilbert, S Malcolm, M Claustres

J Med Genet. 2006 Sep; 43(9): 763–768. Published online 2006 Apr 5. doi: 10.1136/jmg.2006.041954

PMCID:: PMC2564578

Abstract Article PDF–198K

Select item 17852728.

A functional study of plasma-membrane calcium-pump isoform 2 mutants causing digenic deafness

R. Ficarella, F. Di Leva, M. Bortolozzi, S. Ortolano, F. Donaudy, M. Petrillo, S. Melchionda, A. Lelli, T. Domi, L. Fedrizzi, D. Lim, G. E. Shull, P. Gasparini, M. Brini, F. Mammano, E. Carafoli

Proc Natl Acad Sci U S A. 2007 Jan 30; 104(5): 1516–1521. Published online 2007 Jan 18. doi: 10.1073/pnas.0609775104

PMCID:: PMC1785272

Abstract Article PDF–463K

Select item 66747549.

Stereociliary Myosin-1c Receptors Are Sensitive to Calcium Chelation and Absent from Cadherin 23 Mutant Mice

Kelli R. Phillips, Song Tong, Richard Goodyear, Guy P. Richardson, Janet L. Cyr

J Neurosci. 2006 Oct 18; 26(42): 10777–10788. doi: 10.1523/JNEUROSCI.1847-06.2006

PMCID:: PMC6674754

Abstract Article PDF–789K

Select item 285822210.

Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans

Qing Yin Zheng, Denise Yan, Xiao Mei Ouyang, Li Lin Du, Heping Yu, Bo Chang, Kenneth R. Johnson, Xue Zhong Liu

Hum Mol Genet. Author manuscript; available in PMC 2010 Apr 21.

Published in final edited form as: Hum Mol Genet. 2005 Jan 1; 14(1): 103–111. Published online 2004 Nov 10. doi: 10.1093/hmg/ddi010

PMCID:: PMC2858222

Abstract Article PDF–2.2M

Select item 271283511.

Physical and Functional Interaction between Protocadherin 15 and Myosin VIIa in Mechanosensory Hair Cells

Mathias Senften, Martin Schwander, Piotr Kazmierczak, Concepcion Lillo, Jung-Bum Shin, Tama Hasson, Gwenaëlle S. G. Géléoc, Peter G. Gillespie, David Williams, Jeffrey R. Holt, Ulrich Müller

J Neurosci. 2006 Feb 15; 26(7): 2060–2071. doi: 10.1523/JNEUROSCI.4251-05.2006

PMCID:: PMC2712835

Abstract Article PDF–943K

Select item 407879512.

An unusually powerful mode of low-frequency sound interference due to defective hair bundles of the auditory outer hair cells

Kazusaku Kamiya, Vincent Michel, Fabrice Giraudet, Brigitte Riederer, Isabelle Foucher, Samantha Papal, Isabelle Perfettini, Sébastien Le Gal, Elisabeth Verpy, Weiliang Xia, Ursula Seidler, Maria-Magdalena Georgescu, Paul Avan, Aziz El-Amraoui, Christine Petit

Proc Natl Acad Sci U S A. 2014 Jun 24; 111(25): 9307–9312. Published online 2014 Jun 11. doi: 10.1073/pnas.1405322111

PMCID:: PMC4078795

Abstract Article PDF–1.4M

Select item 288851613.

Mechanotransduction by Hair Cells: Models, Molecules, and Mechanisms

Peter G. Gillespie, Ulrich Müller

Cell. Author manuscript; available in PMC 2010 Jun 21.

Published in final edited form as: Cell. 2009 Oct 2; 139(1): 33–44. doi: 10.1016/j.cell.2009.09.010

PMCID:: PMC2888516

Abstract Article PDF–3.7M

Select item 352217814.

TMHS is an Integral Component of the Mechanotransduction Machinery of Cochlear Hair Cells

Wei Xiong, Nicolas Grillet, Heather M. Elledge, Thomas F.J. Wagner, Bo Zhao, Kenneth R. Johnson, Piotr Kazmierczak, Ulrich Müller

Cell. Author manuscript; available in PMC 2013 Dec 7.

Published in final edited form as: Cell. 2012 Dec 7; 151(6): 1283–1295. doi: 10.1016/j.cell.2012.10.041

PMCID:: PMC3522178

Abstract Article PDF–2.7M

Select item 13910915.

Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle

Batiste Boëda, Aziz El-Amraoui, Amel Bahloul, Richard Goodyear, Laurent Daviet, Stéphane Blanchard, Isabelle Perfettini, Karl R. Fath, Spencer Shorte, Jan Reiners, Anne Houdusse, Pierre Legrain, Uwe Wolfrum, Guy Richardson, Christine Petit

EMBO J. 2002 Dec 16; 21(24): 6689–6699. doi: 10.1093/emboj/cdf689

PMCID:: PMC139109

Abstract Article PDF–611K

Select item 667348016.

A Forward Genetics Screen in Mice Identifies Recessive Deafness Traits and Reveals That Pejvakin Is Essential for Outer Hair Cell Function

Martin Schwander, Anna Sczaniecka, Nicolas Grillet, Janice S. Bailey, Matthew Avenarius, Hossein Najmabadi, Brian M. Steffy, Glenn C. Federe, Erica A. Lagler, Raheleh Banan, Rudy Hice, Laura Grabowski-Boase, Elisabeth M. Keithley, Allen F. Ryan, Gary D. Housley, Tim Wiltshire, Richard J. H. Smith, Lisa M. Tarantino, Ulrich Müller

J Neurosci. 2007 Feb 28; 27(9): 2163–2175. doi: 10.1523/JNEUROSCI.4975-06.2007