PMC Links for Gene (Select 84573) - PMC

Select item 66724551.

Thyroid Hormone Deficiency Affects Postnatal Spiking Activity and Expression of Ca²⁺ and K⁺ Channels in Rodent Inner Hair Cells

Niels Brandt, Stephanie Kuhn, Stefan Münkner, Claudia Braig, Harald Winter, Nikolaus Blin, Reinhard Vonthein, Marlies Knipper, Jutta Engel

J Neurosci. 2007 Mar 21; 27(12): 3174–3186. doi: 10.1523/JNEUROSCI.3965-06.2007

PMCID:: PMC6672455

Abstract Article PDF–939K

Select item 66714462.

Calcium- and Otoferlin-Dependent Exocytosis by Immature Outer Hair Cells

Maryline Beurg, Saaid Safieddine, Isabelle Roux, Yohan Bouleau, Christine Petit, Didier Dulon

J Neurosci. 2008 Feb 20; 28(8): 1798–1803. doi: 10.1523/JNEUROSCI.4653-07.2008

PMCID:: PMC6671446

Abstract Article PDF–315K

Select item 39794173.

Calcium Regulates Molecular Interactions of Otoferlin with Soluble NSF Attachment Protein Receptor (SNARE) Proteins Required for Hair Cell Exocytosis

Neeliyath A. Ramakrishnan, Marian J. Drescher, Barbara J. Morley, Philip M. Kelley, Dennis G. Drescher

J Biol Chem. 2014 Mar 28; 289(13): 8750–8766. Published online 2014 Jan 29. doi: 10.1074/jbc.M113.480533

PMCID:: PMC3979417

Abstract Article PDF–2.9M

Select item 17351864.

Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss

V Migliosi, S Modamio-Hoybjor, M Moreno-Pelayo, M Rodriguez-Ballest..., M Villamar, D Telleria, I Menendez, F Moreno, I del Castillo

J Med Genet. 2002 Jul; 39(7): 502–506. doi: 10.1136/jmg.39.7.502

PMCID:: PMC1735186

Summary PDF–619K

Select item 21409495.

A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9

Chantal Longo-Guess, Leona H. Gagnon, David E. Bergstrom, Kenneth R. Johnson

Hear Res. Author manuscript; available in PMC 2008 Dec 1.

Published in final edited form as: Hear Res. 2007 Dec; 234(1-2): 21–28. Published online 2007 Sep 29. doi: 10.1016/j.heares.2007.09.005

PMCID:: PMC2140949

Abstract Article PDF–1.1M

Select item 12875196.

OTOF Encodes Multiple Long and Short Isoforms: Genetic Evidence That the Long Ones Underlie Recessive Deafness DFNB9

Shin'ichiro Yasunaga, M'hamed Grati, Sébastien Chardenoux, Tenesha N. Smith, Thomas B. Friedman, Anil K. Lalwani, Edward R. Wilcox, Christine Petit

Am J Hum Genet. 2000 Sep; 67(3): 591–600. Published online 2000 Jul 19. doi: 10.1086/303049

PMCID:: PMC1287519

Abstract Article PDF–394K

Select item 36765397.

Otoferlin Couples to Clathrin-Mediated Endocytosis in Mature Cochlear Inner Hair Cells

Susanne V. Duncker, Christoph Franz, Stephanie Kuhn, Uwe Schulte, Dario Campanelli, Niels Brandt, Bernhard Hirt, Bernd Fakler, Nikolaus Blin, Peter Ruth, Jutta Engel, Walter Marcotti, Ulrike Zimmermann, Marlies Knipper

J Neurosci. 2013 May 29; 33(22): 9508–9519. doi: 10.1523/JNEUROSCI.5689-12.2013

PMCID:: PMC3676539

Abstract Article PDF–3.5M

Select item 52835848.

Tryptophan‐rich basic protein (WRB) mediates insertion of the tail‐anchored protein otoferlin and is required for hair cell exocytosis and hearing

Christian Vogl, Iliana Panou, Gulnara Yamanbaeva, Carolin Wichmann, Sara J Mangosing, Fabio Vilardi, Artur A Indzhykulian, Tina Pangršič, Rosamaria Santarelli, Montserrat Rodriguez‐Ballesteros, Thomas Weber, Sangyong Jung, Elena Cardenas, Xudong Wu, Sonja M Wojcik, Kelvin Y Kwan, Ignacio del Castillo, Blanche Schwappach, Nicola Strenzke, David P Corey, Shuh‐Yow Lin, Tobias Moser

EMBO J. 2016 Dec 1; 35(23): 2536–2552. Published online 2016 Jul 25. doi: 10.15252/embj.201593565

PMCID:: PMC5283584

Abstract Article PDF–2.6M

Select item 5402779.

Gene and alternative splicing annotation with AIR

Liliana Florea, Valentina Di Francesco, Jason Miller, Russell Turner, Alison Yao, Michael Harris, Brian Walenz, Clark Mobarry, Gennady V. Merkulov, Rosane Charlab, Ian Dew, Zuoming Deng, Sorin Istrail, Peter Li, Granger Sutton

Genome Res. 2005 Jan; 15(1): 54–66. doi: 10.1101/gr.2889405

PMCID:: PMC540277

Abstract Article PDF–256K

Select item 317805910.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

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