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Items: 1 to 20 of 25

1.
Zooming in on cadherin-23: Structural diversity and potential mechanisms of inherited deafness
Avinash Jaiganesh, Pedro De-la-Torre, Aniket A. Patel, Domenic J. Termine, Florencia Velez-Cortes, Conghui Chen, Marcos Sotomayor
Structure. Author manuscript; available in PMC 2019 Sep 4.
Published in final edited form as: Structure. 2018 Sep 4; 26(9): 1210–1225.e4. Published online 2018 Jul 19. doi: 10.1016/j.str.2018.06.003
PMCID:
PMC6375707
AbstractArticlePDF–4.0M
2.
Structure of the N terminus of cadherin 23 reveals a new adhesion mechanism for a subset of cadherin superfamily members
Heather M. Elledge, Piotr Kazmierczak, Peter Clark, Jeremiah S. Joseph, Anand Kolatkar, Peter Kuhn, Ulrich Müller
Proc Natl Acad Sci U S A. 2010 Jun 8; 107(23): 10708–10712. Published online 2010 Jun 8. doi: 10.1073/pnas.1006284107
PMCID:
PMC2890781
AbstractArticlePDF–974K
3.
Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23
Julie M. Bork, Linda M. Peters, Saima Riazuddin, Steve L. Bernstein, Zubair M. Ahmed, Seth L. Ness, Robert Polomeno, Arabandi Ramesh, Melvin Schloss, C. R. Srikumari Srisailpathy, Sigrid Wayne, Susan Bellman, Dilip Desmukh, Zahoor Ahmed, Shaheen N. Khan, Vazken M. Der Kaloustian, X. Cindy Li, Anil Lalwani, Sheikh Riazuddin, Maria Bitner-Glindzicz, Walter E. Nance, Xue-Zhong Liu, Graeme Wistow, Richard J. H. Smith, Andrew J. Griffith, Edward R. Wilcox, Thomas B. Friedman, Robert J. Morell
Am J Hum Genet. 2001 Jan; 68(1): 26–37. Published online 2000 Nov 21. doi: 10.1086/316954
PMCID:
PMC1234923
AbstractArticlePDF–818K
4.
OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients
Yoh-ichiro Iwasa, Shin-ya Nishio, Akiko Sugaya, Yuko Kataoka, Yukihiko Kanda, Mirei Taniguchi, Kyoko Nagai, Yasushi Naito, Tetsuo Ikezono, Rie Horie, Yuika Sakurai, Rina Matsuoka, Hidehiko Takeda, Satoko Abe, Chiharu Kihara, Takashi Ishino, Shin-ya Morita, Satoshi Iwasaki, Masahiro Takahashi, Tsukasa Ito, Yasuhiro Arai, Shin-ichi Usami
PLoS One. 2019; 14(5): e0215932. Published online 2019 May 16. doi: 10.1371/journal.pone.0215932
PMCID:
PMC6522017
AbstractArticlePDF–513K
5.
A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies
Maitane Ezquerra-Inchausti, Ander Anasagasti, Olatz Barandika, Gonzaga Garay-Aramburu, Marta Galdós, Adolfo López de Munain, Cristina Irigoyen, Javier Ruiz-Ederra
Sci Rep. 2018; 8: 15457. Published online 2018 Oct 18. doi: 10.1038/s41598-018-33810-3
Correction in:
Sci Rep. 2019; 9: 8113.
PMCID:
PMC6194132
AbstractArticlePDF–1.5M
6.
CDH23 Methylation Status and Presbycusis Risk in Elderly Women
Amal Bouzid, Ibtihel Smeti, Amine Chakroun, Salma Loukil, Abdullah Ahmed Gibriel, Mhamed Grati, Abdelmonem Ghorbel, Saber Masmoudi
Front Aging Neurosci. 2018; 10: 241. Published online 2018 Aug 7. doi: 10.3389/fnagi.2018.00241
PMCID:
PMC6090039
AbstractArticlePDF–1.2M
7.
Genetic Etiology Study of Ten Chinese Families with Nonsyndromic Hearing Loss
Songqun Hu, Feifei Sun, Jie Zhang, Yan Tang, Jinhong Qiu, Zhixia Wang, Luping Zhang
Neural Plast. 2018; 2018: 4920980. Published online 2018 Jul 5. doi: 10.1155/2018/4920980
PMCID:
PMC6079373
AbstractArticlePDF–884K
8.
Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment
Isabelle Schrauwen, Imen Chakchouk, Anushree Acharya, Khurram Liaqat, Irfanullah, University of Washington Center for Mendelian Genomics, Deborah A. Nickerson, Michael J. Bamshad, Khadim Shah, Wasim Ahmad, Suzanne M. Leal
BMC Med Genet. 2018; 19: 122. Published online 2018 Jul 20. doi: 10.1186/s12881-018-0618-5
PMCID:
PMC6053831
AbstractArticlePDF–752K
9.
Gene screening facilitates diagnosis of complicated symptoms: A case report
Hong Duan, Di Zhang, Jing Cheng, Yu Lu, Huijun Yuan
Mol Med Rep. 2017 Dec; 16(6): 7915–7922. Published online 2017 Sep 22. doi: 10.3892/mmr.2017.7590
PMCID:
PMC5779872
AbstractArticlePDF–1023K
10.
Carrier re-sequencing reveals rare but benign variants in recessive deafness genes
Longxia He, Xiuhong Pang, Penghui Chen, Xiaowen Wang, Tao Yang, Hao Wu
Sci Rep. 2017; 7: 11355. Published online 2017 Sep 12. doi: 10.1038/s41598-017-10099-2
PMCID:
PMC5595904
AbstractArticlePDF–1.0M
11.
Comprehensive genetic exploration of selective tooth agenesis of mandibular incisors by exome sequencing
Tetsutaro Yamaguchi, Kazuyoshi Hosomichi, Keisuke Yano, Yong-Il Kim, Hirofumi Nakaoka, Ryosuke Kimura, Hirotada Otsuka, Naoko Nonaka, Shugo Haga, Masahiro Takahashi, Tatsuo Shirota, Yoshiaki Kikkawa, Atsushi Yamada, Ryutaro Kamijo, Soo-Byung Park, Masanori Nakamura, Koutaro Maki, Ituro Inoue
Hum Genome Var. 2017; 4: 17005. Published online 2017 Feb 23. doi: 10.1038/hgv.2017.5
PMCID:
PMC5321669
AbstractArticlePDF–337K
12.
Discovery of CDH23 as a Significant Contributor to Progressive Postlingual Sensorineural Hearing Loss in Koreans
Bong Jik Kim, Ah Reum Kim, Chung Lee, So Young Kim, Nayoung K. D. Kim, Mun Young Chang, Jihye Rhee, Mi-Hyun Park, Soo Kyung Koo, Min Young Kim, Jin Hee Han, Seung-ha Oh, Woong-Yang Park, Byung Yoon Choi
PLoS One. 2016; 11(10): e0165680. Published online 2016 Oct 28. doi: 10.1371/journal.pone.0165680
PMCID:
PMC5085094
AbstractArticlePDF–2.4M
13.
Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients
Kentaro Mori, Hideaki Moteki, Maiko Miyagawa, Shin-ya Nishio, Shin-ichi Usami
PLoS One. 2016; 11(9): e0162230. Published online 2016 Sep 14. doi: 10.1371/journal.pone.0162230
PMCID:
PMC5023092
AbstractArticlePDF–226K
14.
Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing
Hidekane Yoshimura, Maiko Miyagawa, Kozo Kumakawa, Shin-ya Nishio, Shin-ichi Usami
J Hum Genet. 2016 May; 61(5): 419–422. Published online 2016 Jan 21. doi: 10.1038/jhg.2015.168
PMCID:
PMC4893503
AbstractArticlePDF–330K
15.
Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology
Maria Carolina CCosta CMelo Svidnicki, Sueli Matilde Silva-Costa, Priscila Zonzini Ramos, Nathalia Zocal Pereira dos Santos, Fábio Tadeu Arrojo Martins, Arthur Menino Castilho, Edi Lúcia Sartorato
BMC Med Genet. 2015; 16: 85. Published online 2015 Sep 23. doi: 10.1186/s12881-015-0232-8
PMCID:
PMC4581412
AbstractArticlePDF–759K
16.
Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population
So Young Kim, Ah Reum Kim, Nayoung K D Kim, Min Young Kim, Eun-Hee Jeon, Bong Jik Kim, Young Eun Han, Mun Young Chang, Woong-Yang Park, Byung Yoon Choi
J Transl Med. 2015; 13: 263. Published online 2015 Aug 13. doi: 10.1186/s12967-015-0624-8
PMCID:
PMC4534105
AbstractArticlePDF–3.3M
17.
Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches
Yu Lu, Xueya Zhou, Zhanguo Jin, Jing Cheng, Weidong Shen, Fei Ji, Liyang Liu, Xuegong Zhang, Michael Zhang, Ye Cao, Dongyi Han, KwongWai Choy, Huijun Yuan
J Hum Genet. 2014 Nov; 59(11): 599–607. Published online 2014 Sep 18. doi: 10.1038/jhg.2014.78
PMCID:
PMC4521291
AbstractArticlePDF–1.6M
18.
Clinical Application of a Custom AmpliSeq Library and Ion Torrent PGM Sequencing to Comprehensive Mutation Screening for Deafness Genes
Shin-Ya Nishio, Yoshiharu Hayashi, Manabu Watanabe, Shin-Ichi Usami
Genet Test Mol Biomarkers. 2015 Apr 1; 19(4): 209–217. doi: 10.1089/gtmb.2014.0252
PMCID:
PMC4394162
AbstractArticlePDF–518K
19.
Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland
Li Zhao, Feng Wang, Hui Wang, Yumei Li, Sharon Alexander, Keqing Wang, Colin E. Willoughby, Jacques E. Zaneveld, Lichun Jiang, Zachry T. Soens, Philip Earle, David Simpson, Giuliana Silvestri, Rui Chen
Hum Genet. Author manuscript; available in PMC 2015 Aug 1.
Published in final edited form as: Hum Genet. 2015 Feb; 134(2): 217–230. Published online 2014 Dec 4. doi: 10.1007/s00439-014-1512-7
PMCID:
PMC4347882
AbstractArticlePDF–1.1M
20.
Cone Responses in Usher Syndrome Types 1 and 2 by Microvolt Electroretinography
Wadih M. Zein, Benedetto Falsini, Ekaterina T. Tsilou, Amy E. Turriff, Julie M. Schultz, Thomas B. Friedman, Carmen C. Brewer, Christopher K. Zalewski, Kelly A. King, Julie A. Muskett, Atteeq U. Rehman, Robert J. Morell, Andrew J. Griffith, Paul A. Sieving
Invest Ophthalmol Vis Sci. 2015 Jan; 56(1): 107–114. Published online 2015 Jan 6. doi: 10.1167/iovs.14-15355
PMCID:
PMC4288141
AbstractArticlePDF–695K

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