PMC Links for Gene (Select 308596) - PMC

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Items: 18

Select item 36577441.

Rescue of hearing and vestibular function in a mouse model of human deafness

Jennifer J. Lentz, Francine M. Jodelka, Anthony J. Hinrich, Kate E. McCaffrey, Hamilton E. Farris, Mathew J. Spalitta, Nicolas G. Bazan, Dominik M. Duelli, Frank Rigo, Michelle L. Hastings

Nat Med. Author manuscript; available in PMC 2013 Sep 1.

Published in final edited form as: Nat Med. 2013 Mar; 19(3): 345–350. Published online 2013 Feb 4. doi: 10.1038/nm.3106

PMCID:: PMC3657744

Abstract Article PDF–1.1M

Select item 35209542.

Exome Sequencing Identifies a Founder Frameshift Mutation in an Alternative Exon of USH1C as the Cause of Autosomal Recessive Retinitis Pigmentosa with Late-Onset Hearing Loss

Samer Khateb, Lina Zelinger, Tamar Ben-Yosef, Saul Merin, Ornit Crystal-Shalit, Menachem Gross, Eyal Banin, Dror Sharon

PLoS One. 2012; 7(12): e51566. Published online 2012 Dec 12. doi: 10.1371/journal.pone.0051566

PMCID:: PMC3520954

Abstract Article PDF–2.6M

Select item 29076633.

Ush1c gene expression levels in the ear and eye suggest different roles for Ush1c in neurosensory organs in a new Ush1c knockout mouse

Cong Tian, Xue Z. Liu, Fengchan Han, Heping Yu, Chantal Longo-Guess, Bin Yang, Changjun Lu, Denise Yan, Qing Y. Zheng

Brain Res. Author manuscript; available in PMC 2011 Apr 30.

Published in final edited form as: Brain Res. 2010 Apr 30; 1328: 57–70. Published online 2010 Mar 6. doi: 10.1016/j.brainres.2010.02.079

PMCID:: PMC2907663

Abstract Article PDF–5.6M

Select item 18959894.

Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population

Inga Ebermann, Irma Lopez, Maria Bitner-Glindzicz, Carolyn Brown, Robert Karel Koenekoop, Hanno Jörn Bolz

Genome Biol. 2007; 8(4): R47. Published online 2007 Apr 3. doi: 10.1186/gb-2007-8-4-r47

PMCID:: PMC1895989

Abstract Article PDF–747K

Select item 29252505.

Deafness and Retinal Degeneration in A Novel USH1C Knock-In Mouse Model

Jennifer J. Lentz, William C. Gordon, Hamilton E. Farris, Glen H. MacDonald, Dale E. Cunningham, Carol A. Robbins, Bruce L. Tempel, Nicolas G. Bazan, Edwin W. Rubel, Elizabeth C. Oesterle, Bronya J. Keats

Dev Neurobiol. Author manuscript; available in PMC 2011 Mar 1.

Published in final edited form as: Dev Neurobiol. 2010 Mar; 70(4): 253–267. doi: 10.1002/dneu.20771

PMCID:: PMC2925250

Abstract Article PDF–1.2M

Select item 33109596.

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 28622987.

Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene

Kenneth R. Johnson, Leona H. Gagnon, Lisa S. Webb, Luanne L. Peters, Norman L. Hawes, Bo Chang, Qing Yin Zheng

Hum Mol Genet. Author manuscript; available in PMC 2010 May 3.

Published in final edited form as: Hum Mol Genet. 2003 Dec 1; 12(23): 3075–3086. Published online 2003 Sep 30. doi: 10.1093/hmg/ddg332

PMCID:: PMC2862298

Abstract Article PDF–2.2M

Select item 47303828.

ANKS4B is essential for intermicrovillar adhesion complex formation

Scott W. Crawley, Meredith L. Weck, Nathan E. Grega-Larson, David A. Shifrin, Jr., Matthew J. Tyska

Dev Cell. Author manuscript; available in PMC 2017 Jan 25.

Published in final edited form as: Dev Cell. 2016 Jan 25; 36(2): 190–200. doi: 10.1016/j.devcel.2015.12.022

PMCID:: PMC4730382

Abstract Article PDF–2.8M

Select item 30941409.

Proteomic analysis of the enterocyte brush border

Russell E. McConnell, Andrew E. Benesh, Suli Mao, David L. Tabb, Matthew J. Tyska

Am J Physiol Gastrointest Liver Physiol. 2011 May; 300(5): G914–G926. Published online 2011 Feb 17. doi: 10.1152/ajpgi.00005.2011

PMCID:: PMC3094140

Abstract Article

Select item 288851610.

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 122604511.

Mutations of the Protocadherin Gene PCDH15 Cause Usher Syndrome Type 1F

Zubair M. Ahmed, Saima Riazuddin, Steve L. Bernstein, Zahoor Ahmed, Shaheen Khan, Andrew J. Griffith, Robert J. Morell, Thomas B. Friedman, Sheikh Riazuddin, Edward R. Wilcox

Am J Hum Genet. 2001 Jul; 69(1): 25–34. Published online 2001 Jun 7. doi: 10.1086/321277

PMCID:: PMC1226045

Abstract Article PDF–273K

Select item 399285612.

Intestinal brush border assembly driven by protocadherin-based intermicrovillar adhesion

Scott W. Crawley, David A. Shifrin, Jr., Nathan E. Grega-Larson, Russell E. McConnell, Andrew E. Benesh, Suli Mao, Yuxi Zheng, Qing Yin Zheng, Ki Taek Nam, Bryan A. Millis, Bechara Kachar, Matthew J. Tyska

Cell. Author manuscript; available in PMC 2015 Apr 10.

Published in final edited form as: Cell. 2014 Apr 10; 157(2): 433–446. doi: 10.1016/j.cell.2014.01.067

PMCID:: PMC3992856

Abstract Article PDF–5.6M

Select item 13910913.

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 473838614.

Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth

Andrea Lelli, Vincent Michel, Jacques Boutet de Monvel, Matteo Cortese, Montserrat Bosch-Grau, Asadollah Aghaie, Isabelle Perfettini, Typhaine Dupont, Paul Avan, Aziz El-Amraoui, Christine Petit

J Cell Biol. 2016 Jan 18; 212(2): 231–244. doi: 10.1083/jcb.201509017

PMCID:: PMC4738386

Abstract Article PDF–3.2M

Select item 284728715.

The Small GTPase Rac1 Regulates Auditory Hair Cell Morphogenesis

Cynthia M. Grimsley-Myers, Conor W. Sipe, Gwenaëlle S. G. Géléoc, Xiaowei Lu

J Neurosci. 2009 Dec 16; 29(50): 15859–15869. doi: 10.1523/JNEUROSCI.3998-09.2009

PMCID:: PMC2847287

Abstract Article PDF–4.9M

Select item 325817616.

A new role for the architecture of microvillar actin bundles in apical retention of membrane proteins

Céline Revenu, Florent Ubelmann, Ilse Hurbain, Fatima El-Marjou, Florent Dingli, Damarys Loew, Delphine Delacour, Jules Gilet, Edith Brot-Laroche, Francisco Rivero, Daniel Louvard, Sylvie Robine

Mol Biol Cell. 2012 Jan 15; 23(2): 324–336. doi: 10.1091/mbc.E11-09-0765