PMC Links for GEO Profiles (Select 71994718) - PMC

Select item 90555531.

Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort

Vasily M. Smirnov, Marco Nassisi, Saddek Mohand-Saïd, Crystel Bonnet, Anne Aubois, Céline Devisme, Thilissa Dib, Christina Zeitz, Natalie Loundon, Sandrine Marlin, Christine Petit, Bahram Bodaghi, José-Alain Sahel, Isabelle Audo

Invest Ophthalmol Vis Sci. 2022 Apr; 63(4): 25. Published online 2022 Apr 28. doi: 10.1167/iovs.63.4.25

PMCID:: PMC9055553

Abstract Article PDF–9.1M

Select item 71699832.

A reference map of the human binary protein interactome

Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood

Nature. Author manuscript; available in PMC 2020 Oct 8.

Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x

PMCID:: PMC7169983

Abstract Article PDF–5.4M

Select item 70571023.

Extending the spectrum of CLRN1‐ and ABCA4‐associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing

Mohammed Abu‐Ameerh, Hashim Mohammad, Zain Dardas, Raghda Barham, Dema Ali, Maysa Bijawi, Mohamed Tawalbeh, Sami Amr, Ma'mon M. Hatmal, Muawyah Al‐Bdour, Abdalla Awidi, Belal Azab

Mol Genet Genomic Med. 2020 Mar; 8(3): e1123. Published online 2020 Jan 22. doi: 10.1002/mgg3.1123

PMCID:: PMC7057102

Abstract Article PDF–1.6M

Select item 65611524.

Unconventional secretory pathway activation restores hair cell mechanotransduction in an USH3A model

Suhasini R. Gopal, Yvonne T. Lee, Ruben Stepanyan, Brian M. McDermott, Jr., Kumar N. Alagramam

Proc Natl Acad Sci U S A. 2019 May 28; 116(22): 11000–11009. Published online 2019 May 16. doi: 10.1073/pnas.1817500116

PMCID:: PMC6561152

Abstract Article PDF–1.9M

Select item 54311795.

A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula

Arif O. Khan, Elvir Becirovic, Christian Betz, Christine Neuhaus, Janine Altmüller, Lisa Maria Riedmayr, Susanne Motameny, Gudrun Nürnberg, Peter Nürnberg, Hanno J. Bolz

Sci Rep. 2017; 7: 1411. Published online 2017 May 3. doi: 10.1038/s41598-017-01577-8

PMCID:: PMC5431179

Abstract Article PDF–2.7M

Select item 44826146.

Cone Structure in Patients With Usher Syndrome Type III and Mutations in the Clarin 1 Gene

Kavitha Ratnam, Hanna Västinsalo, Austin Roorda, Eeva-Marja K. Sankila, Jacque L. Duncan

JAMA Ophthalmol. Author manuscript; available in PMC 2015 Jun 26.

Published in final edited form as: JAMA Ophthalmol. 2013 Jan; 131(1): 67–74. doi: 10.1001/2013.jamaophthalmol.2

PMCID:: PMC4482614

Abstract Article PDF–661K

Select item 39496877.

Massively Parallel DNA Sequencing Facilitates Diagnosis of Patients with Usher Syndrome Type 1

Hidekane Yoshimura, Satoshi Iwasaki, Shin-ya Nishio, Kozo Kumakawa, Tetsuya Tono, Yumiko Kobayashi, Hiroaki Sato, Kyoko Nagai, Kotaro Ishikawa, Tetsuo Ikezono, Yasushi Naito, Kunihiro Fukushima, Chie Oshikawa, Takashi Kimitsuki, Hiroshi Nakanishi, Shin-ichi Usami

PLoS One. 2014; 9(3): e90688. Published online 2014 Mar 11. doi: 10.1371/journal.pone.0090688

PMCID:: PMC3949687

Abstract Article PDF–204K

Select item 35380418.

Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3

Gema García-García, María J. Aparisi, Regina Rodrigo, María D. Sequedo, Carmen Espinós, Jordi Rosell, José L. Olea, M. Paz Mendívil, María A Ramos-Arroyo, Carmen Ayuso, Teresa Jaijo, Elena Aller, José M. Millán

Mol Vis. 2012; 18: 3070–3078. Published online 2012 Dec 29.

PMCID:: PMC3538041

Abstract Article PDF–820K

Select item 34226469.

The Mechanosensory Structure of the Hair Cell Requires Clarin-1, a Protein Encoded by Usher Syndrome III Causative Gene

Ruishuang Geng, Sami Melki, Daniel H.-C. Chen, Guilian Tian, David N. Furness, Tomoko Oshima-Takago, Jakob Neef, Tobias Moser, Charles Askew, Geoff Horwitz, Jeffrey R. Holt, Yoshikazu Imanishi, Kumar N. Alagramam

J Neurosci. 2012 Jul 11; 32(28): 9485–9498. doi: 10.1523/JNEUROSCI.0311-12.2012

PMCID:: PMC3422646

Abstract Article PDF–3.3M

Select item 317805910.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 303950711.

Alternative splice variants of the USH3A gene Clarin 1 (CLRN1)

Hanna Västinsalo, Reetta Jalkanen, Astra Dinculescu, Juha Isosomppi, Scott Geller, John G Flannery, William W Hauswirth, Eeva-Marja Sankila

Eur J Hum Genet. 2011 Jan; 19(1): 30–35. Published online 2010 Aug 18. doi: 10.1038/ejhg.2010.140

PMCID:: PMC3039507

Abstract Article PDF–391K

Select item 274264212.

Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane

Juha Isosomppi, Hanna Västinsalo, Scott F. Geller, Elise Heon, John G. Flannery, Eeva-Marja Sankila

Mol Vis. 2009; 15: 1806–1818. Published online 2009 Sep 8.

PMCID:: PMC2742642

Abstract Article PDF–8.1M

Select item 270724313.

Clarin-1, Encoded by the Usher Syndrome III Causative Gene, Forms a Membranous Microdomain: POSSIBLE ROLE OF CLARIN-1 IN ORGANIZING THE ACTIN CYTOSKELETON

Guilian Tian, Yun Zhou, Dagmar Hajkova, Masaru Miyagi, Astra Dinculescu, William W. Hauswirth, Krzysztof Palczewski, Ruishuang Geng, Kumar N. Alagramam, Juha Isosomppi, Eeva-Marja Sankila, John G. Flannery, Yoshikazu Imanishi

J Biol Chem. 2009 Jul 10; 284(28): 18980–18993. Published online 2009 May 7. doi: 10.1074/jbc.M109.003160

PMCID:: PMC2707243

Abstract Article PDF–3.7M

Select item 173528714.

Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III

S Ness, T Ben-Yosef, A Bar-Lev, A Madeo, C Brewer, K Avraham, R Kornreich, R Desnick, J Willner, T Friedman, A Griffith

J Med Genet. 2003 Oct; 40(10): 767–772. doi: 10.1136/jmg.40.10.767

PMCID:: PMC1735287

Summary PDF–321K

Select item 137810115.

Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance.

A Adato, H Kalinski, D Weil, H Chaib, M Korostishevsky, B Bonne-Tamir

Am J Hum Genet. 1999 Jul; 65(1): 261–265. doi: 10.1086/302438

PMCID:: PMC1378101

Summary PDF–763K

Select item 122605416.

Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3

Tarja Joensuu, Riikka Hämäläinen, Bo Yuan, Cheryl Johnson, Saara Tegelberg, Paolo Gasparini, Leopoldo Zelante, Ulla Pirvola, Leenamaija Pakarinen, Anna-Elina Lehesjoki, Albert de la Chapelle, Eeva-Marja Sankila

Am J Hum Genet. 2001 Oct; 69(4): 673–684. Published online 2001 Aug 27. doi: 10.1086/323610