PMC Articles for MedGen (Select 339621) - PMC

Isabelle Audo, Kinga Bujakowska, Saddek Mohand-Saïd, Sophie Tronche, Marie-Elise Lancelot, Aline Antonio, Aurore Germain, Christine Lonjou, Wassila Carpentier, José-Alain Sahel, Shomi Bhattacharya, Christina Zeitz

Mol Vis. 2011; 17: 1598–1606. Published online 2011 Jun 15.

PMCID:: PMC3123164

Article PDF–708K

Select item 28456674.

Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin

Elena Aller, Teresa Jaijo, Erwin van Wijk, Inga Ebermann, Ferry Kersten, Gema García-García, Krysta Voesenek, María José Aparisi, Lies Hoefsloot, Cor Cremers, Manuel Díaz-Llopis, Ronald Pennings, Hanno J. Bolz, Hannie Kremer, José M. Millán

Mol Vis. 2010; 16: 495–500. Published online 2010 Mar 23.

PMCID:: PMC2845667

Article PDF–914K

Select item 57359365.

Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes

K. Sigvard Olsson, Olof Wålinder, Ulf Jansson, Maria Wilbe, Marie-Louise Bondeson, Eva-Lena Stattin, Ruma Raha-Chowdhury, Roger Williams

Hereditas. 2017; 154: 16. Published online 2017 Dec 19. doi: 10.1186/s41065-017-0052-2

PMCID:: PMC5735936

Article PDF–1.1M

Select item 56881496.

Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations

Chiara M. Eandi, Laura Dallorto, Roberta Spinetta, Maria Pia Micieli, Mario Vanzetti, Alessandro Mariottini, Ilaria Passerini, Francesca Torricelli, Camilla Alovisi, Cristiana Marchese

Sci Rep. 2017; 7: 15681. Published online 2017 Nov 15. doi: 10.1038/s41598-017-16014-z

PMCID:: PMC5688149

Article PDF–1.7M

Select item 48598377.

Alternative Splice Forms Influence Functions of Whirlin in Mechanosensory Hair Cell Stereocilia

Seham Ebrahim, Neil J. Ingham, Morag A. Lewis, Michael J.C. Rogers, Runjia Cui, Bechara Kachar, Johanna C. Pass, Karen P. Steel

Cell Rep. 2016 May 3; 15(5): 935–943. Published online 2016 Apr 21. doi: 10.1016/j.celrep.2016.03.081

PMCID:: PMC4859837

Article PDF–3.5M

Select item 48303968.

Molecular studies of phenotype variation in canine RPGR-XLPRA1

Tatyana Appelbaum, Doreen Becker, Evelyn Santana, Gustavo D. Aguirre

Mol Vis. 2016; 22: 319–331. Published online 2016 Apr 9.

PMCID:: PMC4830396

Article PDF–1.9M

Select item 46416199.

Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss

Tahir Atik, Huseyin Onay, Ayca Aykut, Guney Bademci, Tayfun Kirazli, Mustafa Tekin, Ferda Ozkinay

PLoS One. 2015; 10(11): e0142154. Published online 2015 Nov 11. doi: 10.1371/journal.pone.0142154

PMCID:: PMC4641619

Article PDF–446K

Select item 455996610.

Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients

Lichun Jiang, Xiaofang Liang, Yumei Li, Jing Wang, Jacques Eric Zaneveld, Hui Wang, Shan Xu, Keqing Wang, Binbin Wang, Rui Chen, Ruifang Sui

Orphanet J Rare Dis. 2015; 10: 110. Published online 2015 Sep 4. doi: 10.1186/s13023-015-0329-3

PMCID:: PMC4559966

Article PDF–2.6M

Select item 440876311.

Photoreceptors in whirler mice show defective transducin translocation and are susceptible to short-term light/dark changes-induced degeneration

Mei Tian, Weimin Wang, Duane Delimont, Linda Cheung, Marisa Zallocchi, Dominic Cosgrove, You-Wei Peng

Exp Eye Res. Author manuscript; available in PMC 2015 Apr 24.

Published in final edited form as: Exp Eye Res. 2014 Jan; 118: 145–153. Published online 2013 Nov 7. doi: 10.1016/j.exer.2013.10.021

PMCID:: PMC4408763

Article PDF–1.3M

Select item 433162812.

The PDZ-Domain Protein Whirlin Facilitates Mechanosensory Signaling in Mammalian Proprioceptors

Joriene C. de Nooij, Christian M. Simon, Anna Simon, Staceyann Doobar, Karen P. Steel, Robert W. Banks, George Z. Mentis, Guy S. Bewick, Thomas M. Jessell

J Neurosci. 2015 Feb 18; 35(7): 3073–3084. doi: 10.1523/JNEUROSCI.3699-14.2015

PMCID:: PMC4331628

Article PDF–3.3M

Select item 430293413.

Regulation of synaptic development and function by the Drosophila PDZ protein Dyschronic

James E. C. Jepson, Mohammed Shahidullah, Die Liu, Sylvain J. le Marchand, Sha Liu, Mark N. Wu, Irwin B. Levitan, Matthew B. Dalva, Kyunghee Koh

Development. 2014 Dec; 141(23): 4548–4557. doi: 10.1242/dev.109538

PMCID:: PMC4302934

Article

Select item 424576914.

Targeted next generation sequencing for molecular diagnosis of Usher syndrome

María J Aparisi, Elena Aller, Carla Fuster-García, Gema García-García, Regina Rodrigo, Rafael P Vázquez-Manrique, Fiona Blanco-Kelly, Carmen Ayuso, Anne-Françoise Roux, Teresa Jaijo, José M Millán

Orphanet J Rare Dis. 2014; 9: 168. Published online 2014 Nov 18. doi: 10.1186/s13023-014-0168-7

PMCID:: PMC4245769

Article PDF–605K

Select item 379171915.

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

Koji M. Nishiguchi, Richard G. Tearle, Yangfan P. Liu, Edwin C. Oh, Noriko Miyake, Paola Benaglio, Shyana Harper, Hanna Koskiniemi-Kuendig, Giulia Venturini, Dror Sharon, Robert K. Koenekoop, Makoto Nakamura, Mineo Kondo, Shinji Ueno, Tetsuhiro R. Yasuma, Jacques S. Beckmann, Shiro Ikegawa, Naomichi Matsumoto, Hiroko Terasaki, Eliot L. Berson, Nicholas Katsanis, Carlo Rivolta

Proc Natl Acad Sci U S A. 2013 Oct 1; 110(40): 16139–16144. Published online 2013 Sep 16. doi: 10.1073/pnas.1308243110

PMCID:: PMC3791719

Article PDF–1.0M

Select item 333991416.

Rpgr^ORF15 Connects to the Usher Protein Network through Direct Interactions with Multiple Whirlin Isoforms

Rachel N. Wright, Dong-Hyun Hong, Brian Perkins

Invest Ophthalmol Vis Sci. 2012 Mar; 53(3): 1519–1529. Published online 2012 Mar 21. doi: 10.1167/iovs.11-8845

PMCID:: PMC3339914

Article PDF–2.2M

Select item 325901917.

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

Article PDF–1.4M

Select item 298620918.

Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family

Mounira Hmani-Aifa, Zeineb Benzina, Fareeha Zulfiqar, Houria Dhouib, Amber Shahzadi, Abdelmonem Ghorbel, Ahmed Rebaï, Peter Söderkvist, Sheikh Riazuddin, William J Kimberling, Hammadi Ayadi

Eur J Hum Genet. 2009 Apr; 17(4): 474–482. Published online 2008 Oct 15. doi: 10.1038/ejhg.2008.167

PMCID:: PMC2986209

Article PDF–276K

Select item 500503619.

PDZD7-MYO7A complex identified in enriched stereocilia membranes

Clive P Morgan, Jocelyn F Krey, M'hamed Grati, Bo Zhao, Shannon Fallen, Abhiraami Kannan-Sundhari, Xue Zhong Liu, Dongseok Choi, Ulrich Müller, Peter G Barr-Gillespie

eLife. 2016; 5: e18312. Published online 2016 Aug 15. doi: 10.7554/eLife.18312

PMCID:: PMC5005036

Article PDF–11M

Select item 465405620.

A study of whirlin isoforms in the mouse vestibular system suggests potential vestibular dysfunction in DFNB31-deficient patients

Pranav Dinesh Mathur, Sarath Vijayakumar, Deepti Vashist, Sherri M. Jones, Timothy A. Jones, Jun Yang

Hum Mol Genet. 2015 Dec 15; 24(24): 7017–7030. Published online 2015 Sep 29. doi: 10.1093/hmg/ddv403

PMCID:: PMC4654056

Article PDF–1.6M

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