PMC Links for Nucleotide (Select 557878709) - PMC

Select item 60635081.

Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome

Didier Dulon, Samantha Papal, Pranav Patni, Matteo Cortese, Philippe F.Y. Vincent, Margot Tertrais, Alice Emptoz, Abdelaziz Tlili, Yohan Bouleau, Vincent Michel, Sedigheh Delmaghani, Alain Aghaie, Elise Pepermans, Olinda Alegria-Prevot, Omar Akil, Lawrence Lustig, Paul Avan, Saaid Safieddine, Christine Petit, Aziz El-Amraoui

J Clin Invest. 2018 Aug 1; 128(8): 3382–3401. Published online 2018 Jul 9. doi: 10.1172/JCI94351

PMCID:: PMC6063508

Abstract Article PDF–29M

Select item 56473852.

Modeling and Preventing Progressive Hearing Loss in Usher Syndrome III

Ruishuang Geng, Akil Omar, Suhasini R. Gopal, Daniel H.-C. Chen, Ruben Stepanyan, Martin L. Basch, Astra Dinculescu, David N. Furness, David Saperstein, William Hauswirth, Lawrence R. Lustig, Kumar N. Alagramam

Sci Rep. 2017; 7: 13480. Published online 2017 Oct 18. doi: 10.1038/s41598-017-13620-9

PMCID:: PMC5647385

Abstract Article PDF–4.2M

Select item 52958213.

High-throughput discovery of novel developmental phenotypes

Mary E. Dickinson, Ann M. Flenniken, Xiao Ji, Lydia Teboul, Michael D. Wong, Jacqueline K. White, Terrence F. Meehan, Wolfgang J. Weninger, Henrik Westerberg, Hibret Adissu, Candice N. Baker, Lynette Bower, James M. Brown, L. Brianna Caddle, Francesco Chiani, Dave Clary, James Cleak, Mark J. Daly, James M. Denegre, Brendan Doe, Mary E. Dolan, Sarah M. Edie, Helmut Fuchs, Valerie Gailus-Durner, Antonella Galli, Alessia Gambadoro, Juan Gallegos, Shiying Guo, Neil R. Horner, Chih-wei Hsu, Sara J. Johnson, Sowmya Kalaga, Lance C. Keith, Louise Lanoue, Thomas N. Lawson, Monkol Lek, Manuel Mark, Susan Marschall, Jeremy Mason, Melissa L. McElwee, Susan Newbigging, Lauryl M.J. Nutter, Kevin A. Peterson, Ramiro Ramirez-Solis, Douglas J. Rowland, Edward Ryder, Kaitlin E. Samocha, John R. Seavitt, Mohammed Selloum, Zsombor Szoke-Kovacs, Masaru Tamura, Amanda G Trainor, Ilinca Tudose, Shigeharu Wakana, Jonathan Warren, Olivia Wendling, David B. West, Leeyean Wong, Atsushi Yoshiki, The International Mouse Phenotyping Consortium, Daniel G. MacArthur, Glauco P. Tocchini-Valentini, Xiang Gao, Paul Flicek, Allan Bradley, William C. Skarnes, Monica J. Justice, Helen E. Parkinson, Mark Moore, Sara Wells, Robert E. Braun, Karen L. Svenson, Martin Hrabe de Angelis, Yann Herault, Tim Mohun, Ann-Marie Mallon, R. Mark Henkelman, Steve D.M. Brown, David J. Adams, K.C. Kent Lloyd, Colin McKerlie, Arthur L. Beaudet, Maja Bucan, Stephen A. Murray

Nature. Author manuscript; available in PMC 2017 Mar 14.

Published in final edited form as: Nature. 2016 Sep 22; 537(7621): 508–514. Published online 2016 Sep 14. doi: 10.1038/nature19356

Correction in:: Nature. 2017 Nov 16; 551(7680): 398.

PMCID:: PMC5295821

Abstract Article PDF–3.0M

Select item 48717314.

A small molecule mitigates hearing loss in a mouse model of Usher syndrome III

Kumar N. Alagramam, Suhasini R. Gopal, Ruishuang Geng, Daniel H.-C. Chen, Ina Nemet, Richard Lee, Guilian Tian, Masaru Miyagi, Karine F. Malagu, Christopher J. Lock, William R. K. Esmieu, Andrew P. Owens, Nicola A. Lindsay, Krista Ouwehand, Faywell Albertus, David F. Fischer, Roland W. Bürli, Angus M. MacLeod, William E. Harte, Krzysztof Palczewski, Yoshikazu Imanishi

Nat Chem Biol. Author manuscript; available in PMC 2016 Oct 25.

Published in final edited form as: Nat Chem Biol. 2016 Jun; 12(6): 444–451. Published online 2016 Apr 25. doi: 10.1038/nchembio.2069

PMCID:: PMC4871731

Abstract Article PDF–1.3M

Select item 27072435.

Clarin-1, Encoded by the Usher Syndrome III Causative Gene, Forms a Membranous Microdomain: POSSIBLE ROLE OF CLARIN-1 IN ORGANIZING THE ACTIN CYTOSKELETON

Guilian Tian, Yun Zhou, Dagmar Hajkova, Masaru Miyagi, Astra Dinculescu, William W. Hauswirth, Krzysztof Palczewski, Ruishuang Geng, Kumar N. Alagramam, Juha Isosomppi, Eeva-Marja Sankila, John G. Flannery, Yoshikazu Imanishi

J Biol Chem. 2009 Jul 10; 284(28): 18980–18993. Published online 2009 May 7. doi: 10.1074/jbc.M109.003160

PMCID:: PMC2707243

Abstract Article PDF–3.7M

Select item 27066826.

Usher syndrome IIIA gene clarin-1 is essential for hair cell function and associated neural activation

Ruishuang Geng, Scott F. Geller, Toshinori Hayashi, Catherine A. Ray, Thomas A. Reh, Olivia Bermingham-McDonogh, Sherri M. Jones, Charles G. Wright, Sami Melki, Yoshikazu Imanishi, Krzysztof Palczewski, Kumar N. Alagramam, John G. Flannery

Hum Mol Genet. 2009 Aug 1; 18(15): 2748–2760. Published online 2009 May 3. doi: 10.1093/hmg/ddp210

PMCID:: PMC2706682

Abstract Article PDF–852K

Select item 4496977.

Usher Syndrome Type III: Revised Genomic Structure of the USH3 Gene and Identification of Novel Mutations

Randall R. Fields, Guimei Zhou, Dali Huang, Jack R. Davis, Claes Möller, Samuel G. Jacobson, William J. Kimberling, Janos Sumegi

Am J Hum Genet. 2002 Sep; 71(3): 607–617. Published online 2002 Jul 16. doi: 10.1086/342098

PMCID:: PMC449697

Abstract Article PDF–860K

Select item 36086418.

Induction of Olfaction and Cancer-Related Genes in Mice Fed a High-Fat Diet as Assessed through the Mode-of-Action by Network Identification Analysis

Youngshim Choi, Cheol-Goo Hur, Taesun Park

PLoS One. 2013; 8(3): e56610. Published online 2013 Mar 26. doi: 10.1371/journal.pone.0056610

PMCID:: PMC3608641

Abstract Article PDF–6.2M

Select item 27199149.

CLRN1 Is Nonessential in the Mouse Retina but Is Required for Cochlear Hair Cell Development

Scott F. Geller, Karen I. Guerin, Meike Visel, Aaron Pham, Edwin S. Lee, Amiel A. Dror, Karen B. Avraham, Toshinori Hayashi, Catherine A. Ray, Thomas A. Reh, Olivia Bermingham-McDonogh, William J. Triffo, Shaowen Bao, Juha Isosomppi, Hanna Västinsalo, Eeva-Marja Sankila, John G. Flannery

PLoS Genet. 2009 Aug; 5(8): e1000607. Published online 2009 Aug 14. doi: 10.1371/journal.pgen.1000607

PMCID:: PMC2719914

Abstract Article PDF–3.5M

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