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Select item 63757071.

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

Abstract Article PDF–4.0M

Select item 28907812.

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

Abstract Article PDF–974K

Select item 12349233.

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

Abstract Article PDF–818K

Select item 65220174.

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

Abstract Article PDF–513K

Select item 61941325.

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

Abstract Article PDF–1.5M

Select item 60900396.

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

Abstract Article PDF–1.2M

Select item 60793737.

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

Abstract Article PDF–884K

Select item 60538318.

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

Abstract Article PDF–752K

Select item 57798729.

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

Abstract Article PDF–1023K

Select item 559590410.

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

Abstract Article PDF–1.0M

Select item 532166911.

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

Abstract Article PDF–337K

Select item 508509412.

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

Abstract Article PDF–2.4M

Select item 502309213.

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

Abstract Article PDF–226K

Select item 489350314.

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

Abstract Article PDF–330K

Select item 458141215.

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

Abstract Article PDF–759K

Select item 453410516.

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

Abstract Article PDF–3.3M

Select item 452129117.

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

Abstract Article PDF–1.6M

Select item 439416218.

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

Abstract Article PDF–518K

Select item 434788219.

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

Abstract Article PDF–1.1M

Select item 428814120.

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

Abstract Article PDF–695K

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