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Items: 1 to 20 of 109

1.
Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases
Janine Reurink, Adrian Dockery, Dominika Oziębło, G. Jane Farrar, Monika Ołdak, Jacoline B. ten Brink, Arthur A. Bergen, Tuula Rinne, Helger G. Yntema, Ronald J. E. Pennings, L. Ingeborgh van den Born, Marco Aben, Jaap Oostrik, Hanka Venselaar, Astrid S. Plomp, M. Imran Khan, Erwin van Wijk, Frans P. M. Cremers, Susanne Roosing, Hannie Kremer
Int J Mol Sci. 2021 Jun; 22(12): 6419. Published online 2021 Jun 15. doi: 10.3390/ijms22126419
PMCID:
PMC8232728
AbstractArticlePDF–1.7M
2.
The lived experiences of work and health of people living with deaf-blindness due to Usher syndrome type 2
Mattias Ehn, Moa Wahlqvist, Claes Möller, Agneta Anderzén-Carlsson
Int J Qual Stud Health Well-being. 2020; 15(1): 1846671. Published online 2020 Dec 7. doi: 10.1080/17482631.2020.1846671
PMCID:
PMC7734013
AbstractArticlePDF–333K
3.
Identification of whirlin domains interacting with espin: A study of the mechanism of Usher syndrome type II
Le Wang, Bo Wei, Xueqi Fu, Yuchen Wang, Yuan Sui, Junfeng Ma, Xianhui Gong, Jilong Hao, Shu Xing
Mol Med Rep. 2019 Dec; 20(6): 5111–5117. Published online 2019 Oct 7. doi: 10.3892/mmr.2019.10728
PMCID:
PMC6854525
AbstractArticlePDF–490K
4.
Long-term visual outcomes and rehabilitation in Usher syndrome type II after retinal implant Argus II
Jeroni Nadal, María Iglesias
BMC Ophthalmol. 2018; 18: 205. Published online 2018 Aug 22. doi: 10.1186/s12886-018-0880-5
PMCID:
PMC6103969
AbstractArticlePDF–2.0M
5.
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
6.
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
7.
Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family
Wei Zhai, Xin Jin, Yan Gong, Ling-Hui Qu, Chen Zhao, Zhao-Hui Li
Int J Ophthalmol. 2015; 8(4): 670–674. Published online 2015 Aug 18. doi: 10.3980/j.issn.2222-3959.2015.04.05
PMCID:
PMC4539639
AbstractArticlePDF–1.0M
8.
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II
Denise Yan, Xiaomei Ouyang, D Michael Patterson, Li Lin Du, Samuel G Jacobson, Xue-Zhong Liu
J Hum Genet. Author manuscript; available in PMC 2015 Jul 22.
Published in final edited form as: J Hum Genet. 2009 Dec; 54(12): 732–738. Published online 2009 Oct 30. doi: 10.1038/jhg.2009.107
PMCID:
PMC4511341
AbstractArticlePDF–490K
9.
Choroidal Thickness Analysis in Patients with Usher Syndrome Type 2 Using EDI OCT
L. Colombo, B. Sala, G. Montesano, C. Pierrottet, S. De Cillà, P. Maltese, M. Bertelli, L. Rossetti
J Ophthalmol. 2015; 2015: 189140. Published online 2015 May 17. doi: 10.1155/2015/189140
PMCID:
PMC4449934
AbstractArticlePDF–1.2M
10.
USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms
Hideaki Moteki, Hidekane Yoshimura, Hela Azaiez, Kevin T. Booth, A Eliot Shearer, Christina M. Sloan, Diana L. Kolbe, Toshinori Murata, Richard J. H. Smith, Shin-ichi Usami
Ann Otol Rhinol Laryngol. Author manuscript; available in PMC 2015 May 23.
Published in final edited form as: Ann Otol Rhinol Laryngol. 2015 May; 124(1 0): 123S–128S. Published online 2015 Mar 5. doi: 10.1177/0003489415574070
PMCID:
PMC4441826
AbstractArticlePDF–638K
11.
Cognitive skills and reading in adults with Usher syndrome type 2
Cecilia Henricson, Björn Lidestam, Björn Lyxell, Claes Möller
Front Psychol. 2015; 6: 326. Published online 2015 Mar 25. doi: 10.3389/fpsyg.2015.00326
PMCID:
PMC4373271
AbstractArticlePDF–577K
12.
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
13.
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
14.
A Novel Frameshift Mutation of the USH2A Gene in a Korean Patient with Usher Syndrome Type II
Sung Hyun Boo, Min-Jung Song, Hee-Jin Kim, Yang-Sun Cho, Hosuk Chu, Moon-Hee Ko, Won-Ho Chung, Jong-Won Kim, Sung Hwa Hong
Clin Exp Otorhinolaryngol. 2013 Mar; 6(1): 41–44. Published online 2011 Oct 1. doi: 10.3342/ceo.2013.6.1.41
PMCID:
PMC3604269
AbstractArticlePDF–1.9M
15.
The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort
Gema García-García, Thomas Besnard, David Baux, Christel Vaché, Elena Aller, Sue Malcolm, Mireille Claustres, Jose M. Millan, Anne-Françoise Roux
Mol Vis. 2013; 19: 367–373. Published online 2013 Feb 13.
PMCID:
PMC3580968
AbstractArticlePDF–444K
16.
Whirlin interacts with espin and modulates its actin-regulatory function: an insight into the mechanism of Usher syndrome type II
Le Wang, Junhuang Zou, Zuolian Shen, E. Song, Jun Yang
Hum Mol Genet. 2012 Feb 1; 21(3): 692–710. Published online 2011 Nov 2. doi: 10.1093/hmg/ddr503
PMCID:
PMC3259019
AbstractArticlePDF–1.4M
17.
Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II
Wenjun Xu, Hanjun Dai, Tingting Lu, Xiaohui Zhang, Bing Dong, Yang Li
Mol Vis. 2011; 17: 1537–1552. Published online 2011 Jun 9.
PMCID:
PMC3115748
AbstractArticlePDF–4.1M
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.
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa
Terri L. McGee, Babak Jian Seyedahmadi, Meredith O. Sweeney, Thaddeus P. Dryja, Eliot L. Berson
J Med Genet. Author manuscript; available in PMC 2011 Jul 1.
Published in final edited form as: J Med Genet. 2010 Jul; 47(7): 499–506. Published online 2010 May 27. doi: 10.1136/jmg.2009.075143
PMCID:
PMC3070405
AbstractArticlePDF–431K
20.
An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians
Inga Ebermann, Robert K Koenekoop, Irma Lopez, Lara Bou-Khzam, Renée Pigeon, Hanno J Bolz
Eur J Hum Genet. 2009 Jan; 17(1): 80–84. Published online 2008 Jul 30. doi: 10.1038/ejhg.2008.143
PMCID:
PMC2985947
AbstractArticlePDF–126K

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