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Items: 19

Select item 101333961.

Mini-PCDH15 gene therapy rescues hearing in a mouse model of Usher syndrome type 1F

Maryna V. Ivanchenko, Daniel M. Hathaway, Alex J. Klein, Bifeng Pan, Olga Strelkova, Pedro De-la-Torre, Xudong Wu, Cole W. Peters, Eric M. Mulhall, Kevin T. Booth, Corey Goldstein, Joseph Brower, Marcos Sotomayor, Artur A. Indzhykulian, David P. Corey

Nat Commun. 2023; 14: 2400. Published online 2023 Apr 26. doi: 10.1038/s41467-023-38038-y

PMCID:: PMC10133396

Article PDF–7.2M

Select item 96704412.

Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa

Nelson Chen, Hane Lee, Angela H. Kim, Pei-Kang Liu, Eugene Yu-Chuan Kang, Yun-Ju Tseng, Go Hun Seo, Rin Khang, Laura Liu, Kuan-Jen Chen, We-Chi Wu, Meng-Chang Hsiao, Nan-Kai Wang

BMC Ophthalmol. 2022; 22: 441. Published online 2022 Nov 16. doi: 10.1186/s12886-022-02659-6

PMCID:: PMC9670441

Article PDF–1.1M

Select item 29862563.

Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15

Lance Doucette, Nancy D Merner, Sandra Cooke, Elizabeth Ives, Dante Galutira, Vanessa Walsh, Tom Walsh, Linda MacLaren, Tracey Cater, Bridget Fernandez, Jane S Green, Edward R Wilcox, Larry Shotland, X C Li, Ming Lee, Mary-Claire King, Terry-Lynn Young

Eur J Hum Genet. 2009 May; 17(5): 554–564. Published online 2008 Dec 24. doi: 10.1038/ejhg.2008.231

Correction in:: Eur J Hum Genet. 2009 Oct; 17(10): 1363.

PMCID:: PMC2986256

Article PDF–582K

Select item 25330384.

Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome

Sandie Le Guédard, Valérie Faugère, Sue Malcolm, Mireille Claustres, Anne-Françoise Roux

Mol Vis. 2007; 13: 102–107. Published online 2007 Jan 26.

PMCID:: PMC2533038

Article PDF–192K

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

Article PDF–273K

Select item 103372736.

Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep‐intronic variant in a Chinese child with profound hearing loss

Ziying Yang, Minhong Huang, Xiuxiu Wei, Jun Sun, Fuping Zhang

Mol Genet Genomic Med. 2023 Jul; 11(7): e2193. Published online 2023 May 25. doi: 10.1002/mgg3.2193

PMCID:: PMC10337273

Article PDF–1.7M

Select item 85778407.

Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome

Saumil Sethna, Wadih M Zein, Sehar Riaz, Arnaud PJ Giese, Julie M Schultz, Todd Duncan, Robert B Hufnagel, Carmen C Brewer, Andrew J Griffith, T Michael Redmond, Saima Riazuddin, Thomas B Friedman, Zubair M Ahmed

eLife. 2021; 10: e67361. Published online 2021 Nov 9. doi: 10.7554/eLife.67361

PMCID:: PMC8577840

Article PDF–9.7M

Select item 66739078.

The Tip-Link Antigen, a Protein Associated with the Transduction Complex of Sensory Hair Cells, Is Protocadherin-15

Zubair M. Ahmed, Richard Goodyear, Saima Riazuddin, Ayala Lagziel, P. Kevin Legan, Martine Behra, Shawn M. Burgess, Kathryn S. Lilley, Edward R. Wilcox, Sheikh Riazuddin, Andrew J. Griffith, Gregory I. Frolenkov, Inna A. Belyantseva, Guy P. Richardson, Thomas B. Friedman

J Neurosci. 2006 Jun 28; 26(26): 7022–7034. doi: 10.1523/JNEUROSCI.1163-06.2006

PMCID:: PMC6673907

Article PDF–1.0M

Select item 54610279.

Usher syndrome type 1–associated cadherins shape the photoreceptor outer segment

Cataldo Schietroma, Karine Parain, Amrit Estivalet, Asadollah Aghaie, Jacques Boutet de Monvel, Serge Picaud, José-Alain Sahel, Muriel Perron, Aziz El-Amraoui, Christine Petit

J Cell Biol. 2017 Jun 5; 216(6): 1849–1864. doi: 10.1083/jcb.201612030

PMCID:: PMC5461027

Article PDF–3.9M

Select item 339849310.

Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I

Teresa Jaijo, Aki Oshima, Elena Aller, Carol Carney, Shin-ichi Usami, José M. Millán, William J. Kimberling

Mol Vis. 2012; 18: 1719–1726. Published online 2012 Jun 23.

PMCID:: PMC3398493

Article PDF–480K

Select item 336989711.

Evidence of genetic heterogeneity in Alberta Hutterites with Usher syndrome type I

Qi Zhou, Chaeli Lenger, Richard Smith, William J Kimberling, Ming Ye, Ordan Lehmann, Ian MacDonald

Mol Vis. 2012; 18: 1379–1383. Published online 2012 May 31.

PMCID:: PMC3369897

Article PDF–1.2M

Select item 307839812.

Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia

Elisa Caberlotto, Vincent Michel, Isabelle Foucher, Amel Bahloul, Richard J. Goodyear, Elise Pepermans, Nicolas Michalski, Isabelle Perfettini, Olinda Alegria-Prévot, Sébastien Chardenoux, Marcio Do Cruzeiro, Jean-Pierre Hardelin, Guy P. Richardson, Paul Avan, Dominique Weil, Christine Petit

Proc Natl Acad Sci U S A. 2011 Apr 5; 108(14): 5825–5830. Published online 2011 Mar 21. doi: 10.1073/pnas.1017114108

PMCID:: PMC3078398

Article PDF–910K

Select item 273381513.

Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism

Samuel G. Jacobson, Artur V. Cideciyan, Tomas S. Aleman, Alexander Sumaroka, Alejandro J. Roman, Leigh M. Gardner, Haydn M. Prosser, Monalisa Mishra, N. Torben Bech-Hansen, Waldo Herrera, Sharon B. Schwartz, Xue-Zhong Liu, William J. Kimberling, Karen P. Steel, David S. Williams

Hum Mol Genet. 2008 Aug 1; 17(15): 2405–2415. Published online 2008 May 7. doi: 10.1093/hmg/ddn140

PMCID:: PMC2733815

Article PDF–1.1M

Select item 271655814.

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

Article PDF–1.0M

Select item 128793215.

Genetic Heterogeneity of Usher Syndrome: Analysis of 151 Families with Usher Type I

Lisa M. Astuto, Michael D. Weston, Carol A. Carney, Denise M. Hoover, Cor W. R. J. Cremers, Mariette Wagenaar, Claes Moller, Richard J. H. Smith, Sandra Pieke-Dahl, Jacquie Greenberg, Raj Ramesar, Samuel G. Jacobson, Carmen Ayuso, John R. Heckenlively, Marta Tamayo, Michael B. Gorin, Willie Reardon, William J. Kimberling

Am J Hum Genet. 2000 Dec; 67(6): 1569–1574. Published online 2000 Nov 1. doi: 10.1086/316889