PMC Links for Nucleotide (Select 1677489506) - PMC

Select item 61682011.

Mechanotransduction by Pcdh15 relies on a novel cis-dimeric architecture

Gilman Dionne, Xufeng Qiu, Micah Rapp, Xiaoping Liang, Bo Zhao, Guihong Peng, Phinikoula S. Katsamba, Goran Ahlsen, Rotem Rubinstein, Clinton S. Potter, Bridget Carragher, Barry Honig, Ulrich Müller, Lawrence Shapiro

Neuron. Author manuscript; available in PMC 2018 Oct 2.

Published in final edited form as: Neuron. 2018 Aug 8; 99(3): 480–492.e5. Published online 2018 Jul 26. doi: 10.1016/j.neuron.2018.07.006

PMCID:: PMC6168201

Abstract Article PDF–1.5M

Select item 60538312.

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 27165583.

Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome

Zubair M. Ahmed, Saima Riazuddin, Sandar Aye, Rana A. Ali, Hanka Venselaar, Saima Anwar, Polina P. Belyantseva, Muhammad Qasim, Sheikh Riazuddin, Thomas B. Friedman

Hum Genet. Author manuscript; available in PMC 2009 Jul 28.

Published in final edited form as: Hum Genet. 2008 Oct; 124(3): 215–223. Published online 2008 Aug 22. doi: 10.1007/s00439-008-0543-3

PMCID:: PMC2716558

Abstract Article PDF–1.0M

Select item 20434784.

Promoter, Alternative Splice Forms and Genomic Structure of Protocadherin 15

Kumar N. Alagramam, Nathaniel D. Miller, Nithin D. Adappa, Darrell R. Pitts, John C. Heaphy, Huijun Yuan, Richard Smith

Genomics. Author manuscript; available in PMC 2008 Oct 1.

Published in final edited form as: Genomics. 2007 Oct; 90(4): 482–492. Published online 2007 Aug 15. doi: 10.1016/j.ygeno.2007.06.007

PMCID:: PMC2043478

Abstract Article PDF–1.5M

Select item 12260455.

Mutations of the Protocadherin Gene PCDH15 Cause Usher Syndrome Type 1F

Zubair M. Ahmed, Saima Riazuddin, Steve L. Bernstein, Zahoor Ahmed, Shaheen Khan, Andrew J. Griffith, Robert J. Morell, Thomas B. Friedman, Sheikh Riazuddin, Edward R. Wilcox

Am J Hum Genet. 2001 Jul; 69(1): 25–34. Published online 2001 Jun 7. doi: 10.1086/321277

PMCID:: PMC1226045

Abstract Article PDF–273K

Select item 45341056.

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 42800897.

Targeted Exon Sequencing in Usher Syndrome Type I

Kinga M. Bujakowska, Mark Consugar, Emily Place, Shyana Harper, Jaclyn Lena, Daniel G. Taub, Joseph White, Daniel Navarro-Gomez, Carol Weigel DiFranco, Michael H. Farkas, Xiaowu Gai, Eliot L. Berson, Eric A. Pierce

Invest Ophthalmol Vis Sci. 2014 Dec; 55(12): 8488–8496. Published online 2014 Dec 29. doi: 10.1167/iovs.14-15169

PMCID:: PMC4280089

Abstract Article PDF–847K

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