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Items: 18

1.
Spontaneous allelic variant in deafness–blindness gene Ush1g resulting in an expanded phenotype
Vladimir Vartanian, Jocelyn F. Krey, Paroma Chatterjee, Allison Curtis, Makayla Six, Sean P. M. Rice, Sherri M. Jones, Harini Sampath, Charles N. Allen, Renee C. Ryals, R. Stephen Lloyd, Peter G. Barr‐Gillespie
Genes Brain Behav. 2023 Aug; 22(4): e12849. Published online 2023 Jun 16. doi: 10.1111/gbb.12849
PMCID:
PMC10393423
AbstractArticlePDF–5.0M
2.
Otogelin, otogelin-like, and stereocilin form links connecting outer hair cell stereocilia to each other and the tectorial membrane
Paul Avan, Sébastien Le Gal, Vincent Michel, Typhaine Dupont, Jean-Pierre Hardelin, Christine Petit, Elisabeth Verpy
Proc Natl Acad Sci U S A. 2019 Dec 17; 116(51): 25948–25957. Published online 2019 Nov 27. doi: 10.1073/pnas.1902781116
PMCID:
PMC6926040
AbstractArticlePDF–3.3M
3.
SANS (USH1G) Molecularly Links the Human Usher Syndrome Protein Network to the Intraflagellar Transport Module by Direct Binding to IFT-B Proteins
Nasrin Sorusch, Adem Yildirim, Barbara Knapp, Julia Janson, Wiebke Fleck, Caroline Scharf, Uwe Wolfrum
Front Cell Dev Biol. 2019; 7: 216. Published online 2019 Oct 4. doi: 10.3389/fcell.2019.00216
PMCID:
PMC6787559
AbstractArticlePDF–3.9M
4.
The roles of USH1 proteins and PDZ domain-containing USH proteins in USH2 complex integrity in cochlear hair cells
Junhuang Zou, Qian Chen, Ali Almishaal, Pranav Dinesh Mathur, Tihua Zheng, Cong Tian, Qing Y. Zheng, Jun Yang
Hum Mol Genet. 2017 Feb 1; 26(3): 624–636. Published online 2016 Dec 28. doi: 10.1093/hmg/ddw421
PMCID:
PMC6075602
AbstractArticlePDF–1.7M
5.
Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments
Alix Trouillet, Elisabeth Dubus, Julie Dégardin, Amrit Estivalet, Ivana Ivkovic, David Godefroy, Diego García-Ayuso, Manuel Simonutti, Iman Sahly, José A. Sahel, Aziz El-Amraoui, Christine Petit, Serge Picaud
Sci Rep. 2018; 8: 1968. Published online 2018 Jan 31. doi: 10.1038/s41598-018-20171-0
PMCID:
PMC5792440
AbstractArticlePDF–3.9M
6.
Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G
Alice Emptoz, Vincent Michel, Andrea Lelli, Omar Akil, Jacques Boutet de Monvel, Ghizlene Lahlou, Anaïs Meyer, Typhaine Dupont, Sylvie Nouaille, Elody Ey, Filipa Franca de Barros, Mathieu Beraneck, Didier Dulon, Jean-Pierre Hardelin, Lawrence Lustig, Paul Avan, Christine Petit, Saaid Safieddine
Proc Natl Acad Sci U S A. 2017 Sep 5; 114(36): 9695–9700. Published online 2017 Aug 23. doi: 10.1073/pnas.1708894114
PMCID:
PMC5594693
AbstractArticlePDF–1.7M
7.
Resistance to Noise-Induced Hearing Loss in 129S6 and MOLF Mice: Identification of Independent, Overlapping, and Interacting Chromosomal Regions
Valerie A. Street, Sharon G. Kujawa, Ani Manichaikul, Karl W. Broman, Jeremy C. Kallman, Dustin J. Shilling, Ayaka J. Iwata, Linda C. Robinson, Carol A. Robbins, Jin Li, M. Charles Liberman, Bruce L Tempel
J Assoc Res Otolaryngol. 2014 Oct; 15(5): 721–738. Published online 2014 Jun 21. doi: 10.1007/s10162-014-0472-x
PMCID:
PMC4164691
AbstractArticlePDF–2.8M
8.
Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice
Junhuang Zou, Tihua Zheng, Chongyu Ren, Charles Askew, Xiao-Ping Liu, Bifeng Pan, Jeffrey R. Holt, Yong Wang, Jun Yang
Hum Mol Genet. 2014 May 1; 23(9): 2374–2390. Published online 2013 Dec 11. doi: 10.1093/hmg/ddt629
PMCID:
PMC3976334
AbstractArticlePDF–3.1M
9.
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
10.
Stereocilin connects outer-hair-cell stereocilia to one another and to the tectorial membrane
Elisabeth Verpy, Michel Leibovici, Nicolas Michalski, Richard J. Goodyear, Carine Houdon, Dominique Weil, Guy P. Richardson, Christine Petit
J Comp Neurol. Author manuscript; available in PMC 2012 Jun 15.
Published in final edited form as: J Comp Neurol. 2011 Feb 1; 519(2): 194–210. doi: 10.1002/cne.22509
PMCID:
PMC3375590
AbstractArticlePDF–4.6M
11.
Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes
Qing Yin Zheng, John D. Scarborough, Ye Zheng, Heping Yu, Dongseok Choi, Peter G. Gillespie
Hum Mol Genet. 2012 Jun 1; 21(11): 2588–2598. Published online 2012 Feb 29. doi: 10.1093/hmg/dds084
PMCID:
PMC3349429
AbstractArticlePDF–528K
12.
Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction
M’hamed Grati, Bechara Kachar
Proc Natl Acad Sci U S A. 2011 Jul 12; 108(28): 11476–11481. Published online 2011 Jun 27. doi: 10.1073/pnas.1104161108
PMCID:
PMC3136276
AbstractArticlePDF–1.0M
13.
Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia
Elisa Caberlotto, Vincent Michel, Isabelle Foucher, Amel Bahloul, Richard J. Goodyear, Elise Pepermans, Nicolas Michalski, Isabelle Perfettini, Olinda Alegria-Prévot, Sébastien Chardenoux, Marcio Do Cruzeiro, Jean-Pierre Hardelin, Guy P. Richardson, Paul Avan, Dominique Weil, Christine Petit
Proc Natl Acad Sci U S A. 2011 Apr 5; 108(14): 5825–5830. Published online 2011 Mar 21. doi: 10.1073/pnas.1017114108
PMCID:
PMC3078398
AbstractArticlePDF–910K
14.
Analysis of subcellular localization of Myo7a, Pcdh15 and Sans in Ush1c knockout mice
Denise Yan, Kazusaku Kamiya, Xiao Mei Ouyang, Xue Zhong Liu
Int J Exp Pathol. 2011 Feb; 92(1): 66–71. doi: 10.1111/j.1365-2613.2010.00751.x
PMCID:
PMC3052758
AbstractArticlePDF–367K
15.
A High-Resolution Anatomical Atlas of the Transcriptome in the Mouse Embryo
Graciana Diez-Roux, Sandro Banfi, Marc Sultan, Lars Geffers, Santosh Anand, David Rozado, Alon Magen, Elena Canidio, Massimiliano Pagani, Ivana Peluso, Nathalie Lin-Marq, Muriel Koch, Marchesa Bilio, Immacolata Cantiello, Roberta Verde, Cristian De Masi, Salvatore A. Bianchi, Juliette Cicchini, Elodie Perroud, Shprese Mehmeti, Emilie Dagand, Sabine Schrinner, Asja Nürnberger, Katja Schmidt, Katja Metz, Christina Zwingmann, Norbert Brieske, Cindy Springer, Ana Martinez Hernandez, Sarah Herzog, Frauke Grabbe, Cornelia Sieverding, Barbara Fischer, Kathrin Schrader, Maren Brockmeyer, Sarah Dettmer, Christin Helbig, Violaine Alunni, Marie-Annick Battaini, Carole Mura, Charlotte N. Henrichsen, Raquel Garcia-Lopez, Diego Echevarria, Eduardo Puelles, Elena Garcia-Calero, Stefan Kruse, Markus Uhr, Christine Kauck, Guangjie Feng, Nestor Milyaev, Chuang Kee Ong, Lalit Kumar, MeiSze Lam, Colin A. Semple, Attila Gyenesei, Stefan Mundlos, Uwe Radelof, Hans Lehrach, Paolo Sarmientos, Alexandre Reymond, Duncan R. Davidson, Pascal Dollé, Stylianos E. Antonarakis, Marie-Laure Yaspo, Salvador Martinez, Richard A. Baldock, Gregor Eichele, Andrea Ballabio
PLoS Biol. 2011 Jan; 9(1): e1000582. Published online 2011 Jan 18. doi: 10.1371/journal.pbio.1000582
PMCID:
PMC3022534
AbstractArticlePDF–3.8M
16.
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
17.
A Quantitative Survey of Gravity Receptor Function in Mutant Mouse Strains
Sherri M. Jones, Kenneth R. Johnson, Heping Yu, Lawrence C. Erway, Kumar N. Alagramam, Natasha Pollak, Timothy A. Jones
J Assoc Res Otolaryngol. 2005 Dec; 6(4): 297–310. Published online 2005 Oct 19. doi: 10.1007/s10162-005-0009-4
PMCID:
PMC2504620
AbstractArticlePDF–563K
18.
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences
Mammalian Gene Collection (MGC) Program Team
Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899
PMCID:
PMC139241
AbstractArticlePDF–118K

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