PMC Links for Protein (Select 125987806) - PMC

Select item 35380411.

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 30395072.

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 12260543.

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

Correction in:: Am J Hum Genet. 2001 Nov; 69(5): 1160.

PMCID:: PMC1226054

Abstract Article PDF–645K

Select item 5289284.

The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)

Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504

Correction in:: Genome Res. 2006 Jun; 16(6): 804.

PMCID:: PMC528928

Abstract Article PDF–140K

Select item 4496975.

Usher Syndrome Type III: Revised Genomic Structure of the USH3 Gene and Identification of Novel Mutations

Randall R. Fields, Guimei Zhou, Dali Huang, Jack R. Davis, Claes Möller, Samuel G. Jacobson, William J. Kimberling, Janos Sumegi

Am J Hum Genet. 2002 Sep; 71(3): 607–617. Published online 2002 Jul 16. doi: 10.1086/342098

PMCID:: PMC449697

Abstract Article PDF–860K

Select item 41667676.

Domain analyses of Usher syndrome causing Clarin-1 and GPR98 protein models

Sehrish Haider Khan, Muhammad Rizwan Javed, Muhammad Qasim, Samar Shahzadi, Asma Jalil, Shahid ur Rehman

Bioinformation. 2014; 10(8): 491–495. Published online 2014 Aug 30. doi: 10.6026/97320630010491

PMCID:: PMC4166767

Abstract Article PDF–347K

Select item 31253257.

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

Crystel Bonnet, M'hamed Grati, Sandrine Marlin, Jacqueline Levilliers, Jean-Pierre Hardelin, Marine Parodi, Magali Niasme-Grare, Diana Zelenika, Marc Délépine, Delphine Feldmann, Laurence Jonard, Aziz El-Amraoui, Dominique Weil, Bruno Delobel, Christophe Vincent, Hélène Dollfus, Marie-Madeleine Eliot, Albert David, Catherine Calais, Jacqueline Vigneron, Bettina Montaut-Verient, Dominique Bonneau, Jacques Dubin, Christel Thauvin, Alain Duvillard, Christine Francannet, Thierry Mom, Didier Lacombe, Françoise Duriez, Valérie Drouin-Garraud, Marie-Françoise Thuillier-Obstoy, Sabine Sigaudy, Anne-Marie Frances, Patrick Collignon, Georges Challe, Rémy Couderc, Mark Lathrop, José-Alain Sahel, Jean Weissenbach, Christine Petit, Françoise Denoyelle

Orphanet J Rare Dis. 2011; 6: 21. Published online 2011 May 11. doi: 10.1186/1750-1172-6-21

PMCID:: PMC3125325

Abstract Article PDF–2.0M

Select item 27072438.

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 3957529.

An unappreciated role for RNA surveillance

R Tyler Hillman, Richard E Green, Steven E Brenner

Genome Biol. 2004; 5(2): R8. Published online 2004 Feb 2. doi: 10.1186/gb-2004-5-2-r8

PMCID:: PMC395752

Abstract Article PDF–378K

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