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Items: 1 to 20 of 22

1.
Genetic determinants of micronucleus formation in vivo
D. J. Adams, B. Barlas, R. E. McIntyre, I. Salguero, L. van der Weyden, A. Barros, J. R. Vicente, N. Karimpour, A. Haider, M. Ranzani, G. Turner, N. A. Thompson, V. Harle, R. Olvera-León, C. D. Robles-Espinoza, A. O. Speak, N. Geisler, W. J. Weninger, S. H. Geyer, J. Hewinson, N. A. Karp, The Sanger Mouse Genetics Project, B. Fu, F. Yang, Z. Kozik, J. Choudhary, L. Yu, M. S. van Ruiten, B. D. Rowland, C. J. Lelliott, M. del Castillo Velasco-Herrera, R. Verstraten, L. Bruckner, A. G. Henssen, M. A. Rooimans, J. de Lange, T. J. Mohun, M. J. Arends, K. A. Kentistou, P. A. Coelho, Y. Zhao, H. Zecchini, J. R. B. Perry, S. P. Jackson, G. Balmus
Nature. 2024; 627(8002): 130–136. Published online 2024 Feb 14. doi: 10.1038/s41586-023-07009-0
PMCID:
PMC10917660
AbstractArticlePDF–4.8M
2.
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans
Barbara Vona, Neda Mazaheri, Sheng-Jia Lin, Lucy A. Dunbar, Reza Maroofian, Hela Azaiez, Kevin T. Booth, Sandrine Vitry, Aboulfazl Rad, Franz Rüschendorf, Pratishtha Varshney, Ben Fowler, Christian Beetz, Kumar N. Alagramam, David Murphy, Gholamreza Shariati, Alireza Sedaghat, Henry Houlden, Cassidy Petree, Shruthi VijayKumar, Richard J. H. Smith, Thomas Haaf, Aziz El-Amraoui, Michael R. Bowl, Gaurav K. Varshney, Hamid Galehdari
Hum Genet. 2021; 140(6): 915–931. Published online 2021 Jan 26. doi: 10.1007/s00439-020-02254-z
PMCID:
PMC8099798
AbstractArticlePDF–7.3M
3.
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
AbstractArticlePDF–29M
4.
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
AbstractArticlePDF–4.2M
5.
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
AbstractArticlePDF–3.0M
6.
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
AbstractArticlePDF–1.3M
7.
AAV-Mediated Clarin-1 Expression in the Mouse Retina: Implications for USH3A Gene Therapy
Astra Dinculescu, Rachel M. Stupay, Wen-Tao Deng, Frank M. Dyka, Seok-Hong Min, Sanford L. Boye, Vince A. Chiodo, Carolina E. Abrahan, Ping Zhu, Qiuhong Li, Enrica Strettoi, Elena Novelli, Kerstin Nagel-Wolfrum, Uwe Wolfrum, W. Clay Smith, William W. Hauswirth
PLoS One. 2016; 11(2): e0148874. Published online 2016 Feb 16. doi: 10.1371/journal.pone.0148874
PMCID:
PMC4755610
AbstractArticlePDF–4.1M
8.
Usher protein functions in hair cells and photoreceptors
Dominic Cosgrove, Marisa Zallocchi
Int J Biochem Cell Biol. Author manuscript; available in PMC 2015 Jan 1.
Published in final edited form as: Int J Biochem Cell Biol. 2014 Jan; 46: 80–89. Published online 2013 Nov 12. doi: 10.1016/j.biocel.2013.11.001
PMCID:
PMC3971483
AbstractArticlePDF–1.3M
9.
The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data
Gautier Koscielny, Gagarine Yaikhom, Vivek Iyer, Terrence F. Meehan, Hugh Morgan, Julian Atienza-Herrero, Andrew Blake, Chao-Kung Chen, Richard Easty, Armida Di Fenza, Tanja Fiegel, Mark Grifiths, Alan Horne, Natasha A. Karp, Natalja Kurbatova, Jeremy C. Mason, Peter Matthews, Darren J. Oakley, Asfand Qazi, Jack Regnart, Ahmad Retha, Luis A. Santos, Duncan J. Sneddon, Jonathan Warren, Henrik Westerberg, Robert J. Wilson, David G. Melvin, Damian Smedley, Steve D. M. Brown, Paul Flicek, William C. Skarnes, Ann-Marie Mallon, Helen Parkinson
Nucleic Acids Res. 2014 Jan 1; 42(Database issue): D802–D809. Published online 2013 Nov 3. doi: 10.1093/nar/gkt977
PMCID:
PMC3964955
AbstractArticlePDF–5.7M
10.
Clarin-1 protein expression in photoreceptors
Dominic Cosgrove, Marisa Zallocchi
Hear Res. Author manuscript; available in PMC 2013 May 17.
Published in final edited form as: Hear Res. 2010 Jan; 259(0): 117. Published online 2009 Sep 20. doi: 10.1016/j.heares.2009.09.006
PMCID:
PMC3656589
ArticlePDF–22K
11.
The Mechanosensory Structure of the Hair Cell Requires Clarin-1, a Protein Encoded by Usher Syndrome III Causative Gene
Ruishuang Geng, Sami Melki, Daniel H.-C. Chen, Guilian Tian, David N. Furness, Tomoko Oshima-Takago, Jakob Neef, Tobias Moser, Charles Askew, Geoff Horwitz, Jeffrey R. Holt, Yoshikazu Imanishi, Kumar N. Alagramam
J Neurosci. 2012 Jul 11; 32(28): 9485–9498. doi: 10.1523/JNEUROSCI.0311-12.2012
PMCID:
PMC3422646
AbstractArticlePDF–3.3M
12.
Role for a Novel Usher Protein Complex in Hair Cell Synaptic Maturation
Marisa Zallocchi, Daniel T. Meehan, Duane Delimont, Joseph Rutledge, Michael Anne Gratton, John Flannery, Dominic Cosgrove
PLoS One. 2012; 7(2): e30573. Published online 2012 Feb 17. doi: 10.1371/journal.pone.0030573
PMCID:
PMC3281840
AbstractArticlePDF–3.4M
13.
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
AbstractArticlePDF–1.0M
14.
BIOCHEMICAL CHARACTERIZATION OF NATIVE USHER PROTEIN COMPLEXES FROM A VESICULAR SUBFRACTION OF TRACHEAL EPITHELIAL CELLS
Marisa Zallocchi, Joseph H. Sisson, Dominic Cosgrove
Biochemistry. Author manuscript; available in PMC 2011 Feb 16.
Published in final edited form as: Biochemistry. 2010 Feb 16; 49(6): 1236–1247. doi: 10.1021/bi9020617
PMCID:
PMC2843509
AbstractArticlePDF–4.0M
15.
Localization and expression of clarin-1, the Clrn1 gene product, in auditory hair cells and photoreceptors
Marisa Zallocchi, Daniel T. Meehan, Duane Delimont, Charles Askew, Suneetha Garrige, Michael Anne Gratton, Christie A. Rothermund-Franklin, Dominic Cosgrove
Hear Res. Author manuscript; available in PMC 2010 Sep 1.
Published in final edited form as: Hear Res. 2009 Sep; 255(1-2): 109–120. Published online 2009 Jun 16. doi: 10.1016/j.heares.2009.06.006
PMCID:
PMC2730942
AbstractArticlePDF–5.2M
16.
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
AbstractArticlePDF–3.5M
17.
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
AbstractArticlePDF–3.7M
18.
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
AbstractArticlePDF–852K
19.
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
AbstractArticlePDF–860K
20.
RIKEN Integrated Sequence Analysis (RISA) System—384-Format Sequencing Pipeline with 384 Multicapillary Sequencer
Kazuhiro Shibata, Masayoshi Itoh, Katsunori Aizawa, Sumiharu Nagaoka, Nobuya Sasaki, Piero Carninci, Hideaki Konno, Junichi Akiyama, Katsuo Nishi, Tokuji Kitsunai, Hideo Tashiro, Mari Itoh, Noriko Sumi, Yoshiyuki Ishii, Shin Nakamura, Makoto Hazama, Tsutomu Nishine, Akira Harada, Rintaro Yamamoto, Hiroyuki Matsumoto, Sumito Sakaguchi, Takashi Ikegami, Katsuya Kashiwagi, Syuji Fujiwake, Kouji Inoue, Yoshiyuki Togawa, Masaki Izawa, Eiji Ohara, Masanori Watahiki, Yuko Yoneda, Tomokazu Ishikawa, Kaori Ozawa, Takumi Tanaka, Shuji Matsuura, Jun Kawai, Yasushi Okazaki, Masami Muramatsu, Yorinao Inoue, Akira Kira, Yoshihide Hayashizaki
Genome Res. 2000 Nov; 10(11): 1757–1771. doi: 10.1101/gr.152600
PMCID:
PMC310992
AbstractArticlePDF–3.4M

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