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Items: 1 to 20 of 25

1.
Expression of the human usherin c.2299delG mutation leads to early-onset auditory loss and stereocilia disorganization
Ryan Crane, Lars Tebbe, Maggie L. Mwoyosvi, Muayyad R. Al-Ubaidi, Muna I. Naash
Commun Biol. 2023; 6: 933. Published online 2023 Sep 12. doi: 10.1038/s42003-023-05296-x
PMCID:
PMC10497539
AbstractArticlePDF–4.0M
2.
Deafness‐Associated ADGRV1 Mutation Impairs USH2A Stability through Improper Phosphorylation of WHRN and WDSUB1 Recruitment
Ying Guan, Hai‐Bo Du, Zhao Yang, Yu‐Zhu Wang, Rui Ren, Wen‐Wen Liu, Chao Zhang, Jia‐Hai Zhang, Wen‐Tao An, Na‐Na Li, Xiao‐Xue Zeng, Jie Li, Yi‐Xiao Sun, Yan‐Fei Wang, Fan Yang, Jun Yang, Wei Xiong, Xiao Yu, Ren‐Jie Chai, Xiao‐Ming Tu, Jin‐Peng Sun, Zhi‐Gang Xu
Adv Sci (Weinh) 2023 Jun; 10(16): 2205993. Published online 2023 Apr 17. doi: 10.1002/advs.202205993
PMCID:
PMC10238197
AbstractArticlePDF–7.8M
3.
Adenylyl cyclase 6 plays a minor role in the mouse inner ear and retina
Pranav Dinesh Mathur, Junhuang Zou, Grace Neiswanger, Daniel Zhu, Yong Wang, Ali A. Almishaal, Deepti Vashist, H. Kirk Hammond, Albert H. Park, Jun Yang
Sci Rep. 2023; 13: 7075. Published online 2023 May 1. doi: 10.1038/s41598-023-34361-y
PMCID:
PMC10151359
AbstractArticlePDF–6.2M
4.
The usherin mutation c.2299delG leads to its mislocalization and disrupts interactions with whirlin and VLGR1
Lars Tebbe, Maggie L. Mwoyosvi, Ryan Crane, Mustafa S. Makia, Mashal Kakakhel, Dominic Cosgrove, Muayyad R. Al-Ubaidi, Muna I. Naash
Nat Commun. 2023; 14: 972. Published online 2023 Feb 21. doi: 10.1038/s41467-023-36431-1
PMCID:
PMC9944904
AbstractArticlePDF–20M
5.
BraInMap elucidates the macromolecular connectivity landscape of mammalian brain
Reza Pourhaghighi, Peter E. A. Ash, Sadhna Phanse, Florian Goebels, Lucas Z. M. Hu, Siwei Chen, Yingying Zhang, Shayne D. Wierbowski, Samantha Boudeau, Mohamed T. Moutaoufik, Ramy H. Malty, Edyta Malolepsza, Kalliopi Tsafou, Aparna Nathan, Graham Cromar, Hongbo Guo, Ali Al Abdullatif, Daniel J. Apicco, Lindsay A. Becker, Aaron D. Gitler, Stefan M. Pulst, Ahmed Youssef, Ryan Hekman, Pierre C. Havugimana, Carl A. White, Benjamin C. Blum, Antonia Ratti, Camron D. Bryant, John Parkinson, Kasper Lage, Mohan Babu, Haiyuan Yu, Gary D. Bader, Benjamin Wolozin, Andrew Emili
Cell Syst. Author manuscript; available in PMC 2021 Apr 22.
Published in final edited form as: Cell Syst. 2020 Apr 22; 10(4): 333–350.e14. doi: 10.1016/j.cels.2020.03.003
Correction in:
Cell Syst. 2020 Aug 26; 11(2): 208.
PMCID:
PMC7938770
AbstractArticlePDF–2.0M
6.
Peripheral Anomalies in USH2A Cause Central Auditory Anomalies in a Mouse Model of Usher Syndrome and CAPD
Peter A. Perrino, Dianne F. Newbury, R. Holly Fitch
Genes (Basel) 2021 Feb; 12(2): 151. Published online 2021 Jan 24. doi: 10.3390/genes12020151
PMCID:
PMC7910880
AbstractArticlePDF–1.3M
7.
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss
Gayle B. Collin, Navdeep Gogna, Bo Chang, Nattaya Damkham, Jai Pinkney, Lillian F. Hyde, Lisa Stone, Jürgen K. Naggert, Patsy M. Nishina, Mark P. Krebs
Cells. 2020 Apr; 9(4): 931. Published online 2020 Apr 10. doi: 10.3390/cells9040931
PMCID:
PMC7227028
AbstractArticlePDF–5.4M
8.
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes
Peter A. Perrino, Lidiya Talbot, Rose Kirkland, Amanda Hill, Amanda R. Rendall, Hayley S. Mountford, Jenny Taylor, WGS500 Consortium, Alexzandrea N. Buscarello, Nayana Lahiri, Anand Saggar, R. Holly Fitch, Dianne F. Newbury
Commun Biol. 2020; 3: 180. Published online 2020 Apr 20. doi: 10.1038/s42003-020-0885-5
PMCID:
PMC7170883
AbstractArticlePDF–1.1M
9.
Molecular Characterization of the Ankle-Link Complex in Cochlear Hair Cells and Its Role in the Hair Bundle Functioning
Nicolas Michalski, Vincent Michel, Amel Bahloul, Gaëlle Lefèvre, Jérémie Barral, Hideshi Yagi, Sébastien Chardenoux, Dominique Weil, Pascal Martin, Jean-Pierre Hardelin, Makoto Sato, Christine Petit
J Neurosci. 2007 Jun 13; 27(24): 6478–6488. doi: 10.1523/JNEUROSCI.0342-07.2007
PMCID:
PMC6672440
AbstractArticlePDF–1.0M
10.
Individual USH2 proteins make distinct contributions to the ankle link complex during development of the mouse cochlear stereociliary bundle
Junhuang Zou, Pranav D. Mathur, Tihua Zheng, Yong Wang, Ali Almishaal, Albert H. Park, Jun Yang
Hum Mol Genet. 2015 Dec 15; 24(24): 6944–6957. Published online 2015 Sep 23. doi: 10.1093/hmg/ddv398
PMCID:
PMC4654051
AbstractArticlePDF–1.6M
11.
Whirlin and PDZ Domain-containing 7 (PDZD7) Proteins Are Both Required to Form the Quaternary Protein Complex Associated with Usher Syndrome Type 2
Qian Chen, Junhuang Zou, Zuolian Shen, Weiping Zhang, Jun Yang
J Biol Chem. 2014 Dec 26; 289(52): 36070–36088. Published online 2014 Nov 18. doi: 10.1074/jbc.M114.610535
PMCID:
PMC4276872
AbstractArticlePDF–6.5M
12.
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
13.
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
14.
A conditional knockout resource for the genome–wide study of mouse gene function
William C. Skarnes, Barry Rosen, Anthony P. West, Manousos Koutsourakis, Wendy Bushell, Vivek Iyer, Alejandro O. Mujica, Mark Thomas, Jennifer Harrow, Tony Cox, David Jackson, Jessica Severin, Patrick Biggs, Jun Fu, Michael Nefedov, Pieter J. de Jong, A. Francis Stewart, Allan Bradley
Nature. Author manuscript; available in PMC 2013 Feb 14.
Published in final edited form as: Nature. 2011 Jun 15; 474(7351): 337–342. Published online 2011 Jun 15. doi: 10.1038/nature10163
PMCID:
PMC3572410
AbstractArticlePDF–1.1M
15.
Localization of PDZD7 to the Stereocilia Ankle-Link Associates this Scaffolding Protein with the Usher Syndrome Protein Network
M'hamed Grati, Jung-Bum Shin, Michael D. Weston, James Green, Manzoor A. Bhat, Peter G. Gillespie, Bechara Kachar
J Neurosci. 2012 Oct 10; 32(41): 14288–14293. doi: 10.1523/JNEUROSCI.3071-12.2012
PMCID:
PMC3518401
AbstractArticlePDF–1011K
16.
Elongation Factor 1 alpha1 and Genes Associated with Usher Syndromes Are Downstream Targets of GBX2
David A. Roeseler, Shrikesh Sachdev, Desire M. Buckley, Trupti Joshi, Doris K. Wu, Dong Xu, Mark Hannink, Samuel T. Waters
PLoS One. 2012; 7(11): e47366. Published online 2012 Nov 8. doi: 10.1371/journal.pone.0047366
PMCID:
PMC3493575
AbstractArticlePDF–2.5M
17.
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
18.
Whirlin Replacement Restores the Formation of the USH2 Protein Complex in Whirlin Knockout Photoreceptors
Junhuang Zou, Ling Luo, Zuolian Shen, Vince A. Chiodo, Balamurali K. Ambati, William W. Hauswirth, Jun Yang
Invest Ophthalmol Vis Sci. 2011 Apr; 52(5): 2343–2351. Published online 2011 Apr 12. doi: 10.1167/iovs.10-6141
PMCID:
PMC3081228
AbstractArticlePDF–5.2M
19.
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
20.
Ablation of Whirlin Long Isoform Disrupts the USH2 Protein Complex and Causes Vision and Hearing Loss
Jun Yang, Xiaoqing Liu, Yun Zhao, Michael Adamian, Basil Pawlyk, Xun Sun, D. Randy McMillan, M. Charles Liberman, Tiansen Li
PLoS Genet. 2010 May; 6(5): e1000955. Published online 2010 May 20. doi: 10.1371/journal.pgen.1000955
PMCID:
PMC2873905
AbstractArticlePDF–2.5M

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