| Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort. | Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort.
Smirnov VM, Nassisi M, Mohand-Saïd S, Bonnet C, Aubois A, Devisme C, Dib T, Zeitz C, Loundon N, Marlin S, Petit C, Bodaghi B, Sahel JA, Audo I., Free PMC Article | 05/7/2022 |
| Extending the spectrum of CLRN1- and ABCA4-associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing. | Extending the spectrum of CLRN1- and ABCA4-associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing.
Abu-Ameerh M, Mohammad H, Dardas Z, Barham R, Ali D, Bijawi M, Tawalbeh M, Amr S, Hatmal MM, Al-Bdour M, Awidi A, Azab B., Free PMC Article | 04/3/2021 |
| Studied role of clarin1 (CLRN1) in activation of hair cell mechanotransduction function through an unconventional secretory pathway, and the possibility this activation may be therapeutic to prevent hair cell dysfunction. | Unconventional secretory pathway activation restores hair cell mechanotransduction in an USH3A model.
Gopal SR, Lee YT, Stepanyan R, McDermott BM Jr, Alagramam KN., Free PMC Article | 04/11/2020 |
| Study founds 1 deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon that underlies severe Usher syndrome in a family on the Arabian Peninsula. | A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula.
Khan AO, Becirovic E, Betz C, Neuhaus C, Altmüller J, Maria Riedmayr L, Motameny S, Nürnberg G, Nürnberg P, Bolz HJ., Free PMC Article | 12/22/2018 |
| We report here novel homozygous mutations in various genes causing USH, extending the spectrum of causative mutations. We also prove combined sequencing techniques as useful tools to identify novel disease-causing mutations. To the best of our knowledge, this is the largest report of a genetic analysis of Israeli and Palestinian families (n = 74) with different USH subtypes. | The Genetics of Usher Syndrome in the Israeli and Palestinian Populations.
Khalaileh A, Abu-Diab A, Ben-Yosef T, Raas-Rothschild A, Lerer I, Alswaiti Y, Chowers I, Banin E, Sharon D, Khateb S. | 08/11/2018 |
| This is the first report of Usher syndrome type 3 with a CLRN1 gene mutation in Asian populations. | Identification of a novel CLRN1 gene mutation in Usher syndrome type 3: two case reports.
Yoshimura H, Oshikawa C, Nakayama J, Moteki H, Usami S. | 08/22/2015 |
| Possible digenism could not be excluded in two families segregating genomic variations in both MYO7A and USH2A, and two families with CLRN1 and USH2A. | Extended mutation spectrum of Usher syndrome in Finland.
Västinsalo H, Jalkanen R, Bergmann C, Neuhaus C, Kleemola L, Jauhola L, Bolz HJ, Sankila EM. | 10/26/2013 |
| Two novel mutations in the CLRN1 gene, p.R207X and p.I168N, have been found in patients with Usher syndrome type 3. | Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.
García-García G, Aparisi MJ, Rodrigo R, Sequedo MD, Espinós C, Rosell J, Olea JL, Mendívil MP, Ramos-Arroyo MA, Ayuso C, Jaijo T, Aller E, Millán JM., Free PMC Article | 05/18/2013 |
| High-resolution measures of retinal structure demonstrate patterns of cone loss associated with CLRN1 mutations. | Cone structure in patients with usher syndrome type III and mutations in the Clarin 1 gene.
Ratnam K, Västinsalo H, Roorda A, Sankila EM, Duncan JL., Free PMC Article | 03/23/2013 |
| This study confirmed using a novel mouse model carrying a Clrn1N48K knock-in mutation to investigate the consequence of the missense mutation N48K in mCLRN1 in vivo. | The mechanosensory structure of the hair cell requires clarin-1, a protein encoded by Usher syndrome III causative gene.
Geng R, Melki S, Chen DH, Tian G, Furness DN, Oshima-Takago T, Neef J, Moser T, Askew C, Horwitz G, Holt JR, Imanishi Y, Alagramam KN., Free PMC Article | 09/29/2012 |
| Here we describe a novel deletion in CLRN1. Our data support previously reported intra familial variability in the clinical features of Usher syndrome type I and III. | A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome.
Akoury E, El Zir E, Mansour A, Mégarbané A, Majewski J, Slim R. | 01/14/2012 |
| Retinitis pigmentosa-associated mutations p.Pro31Leu and p.Leu154Trp may represent hypomorphic mutations, because substituted amino acids in transmembrane domains remain polar. | CLRN1 mutations cause nonsyndromic retinitis pigmentosa.
Khan MI, Kersten FF, Azam M, Collin RW, Hussain A, Shah ST, Keunen JE, Kremer H, Cremers FP, Qamar R, den Hollander AI. | 09/10/2011 |
| The complexity of the CLRN1 gene and the identification of multiple splice variants may partially explain why mutations in CLRN1 result in substantial variation in clinical phenotype. | Alternative splice variants of the USH3A gene Clarin 1 (CLRN1).
Västinsalo H, Jalkanen R, Dinculescu A, Isosomppi J, Geller S, Flannery JG, Hauswirth WW, Sankila EM., Free PMC Article | 04/2/2011 |
| Part of the pathogenesis of USH3 may be associated with defective intracellular trafficking as well as decreased stability of mutant CLRN1 proteins. | Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.
Isosomppi J, Västinsalo H, Geller SF, Heon E, Flannery JG, Sankila EM., Free PMC Article | 01/21/2010 |
| Observational study of gene-disease association and genetic testing. (HuGE Navigator) | Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.
Jaijo T, Aller E, García-García G, Aparisi MJ, Bernal S, Avila-Fernández A, Barragán I, Baiget M, Ayuso C, Antiñolo G, Díaz-Llopis M, Külm M, Beneyto M, Nájera C, Millán JM. | 09/20/2009 |
| clarin-1 has a role in the regulation and homeostasis of actin filaments | Clarin-1, encoded by the Usher Syndrome III causative gene, forms a membranous microdomain: possible role of clarin-1 in organizing the actin cytoskeleton.
Tian G, Zhou Y, Hajkova D, Miyagi M, Dinculescu A, Hauswirth WW, Palczewski K, Geng R, Alagramam KN, Isosomppi J, Sankila EM, Flannery JG, Imanishi Y., Free PMC Article | 01/21/2010 |
| USH3A and USH2A share patterns of rod and cone dysfunction and retinal structural abnormalities. | Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.
Herrera W, Aleman TS, Cideciyan AV, Roman AJ, Banin E, Ben-Yosef T, Gardner LM, Sumaroka A, Windsor EA, Schwartz SB, Stone EM, Liu XZ, Kimberling WJ, Jacobson SG. | 01/21/2010 |
| revised structure of USH3 gene: new translation start site, 5' untranslated region, and transcript encoding 232-amino acid protein; four new disease-causing mutations; identified mouse and rat orthologues, and two human paralogues on chromosomes 4 and 10 | Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.
Fields RR, Zhou G, Huang D, Davis JR, Möller C, Jacobson SG, Kimberling WJ, Sumegi J., Free PMC Article | 01/21/2010 |
| a role for clarin-1 in hair cell and photoreceptor cell synapses, as well as a common pathophysiological pathway for different Usher syndromes | USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.
Adato A, Vreugde S, Joensuu T, Avidan N, Hamalainen R, Belenkiy O, Olender T, Bonne-Tamir B, Ben-Asher E, Espinos C, Millán JM, Lehesjoki AE, Flannery JG, Avraham KB, Pietrokovski S, Sankila EM, Beckmann JS, Lancet D. | 01/21/2010 |
| Mutations in the USH3 gene underlie Usher syndrome type 3. | Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.
Joensuu T, Hämäläinen R, Yuan B, Johnson C, Tegelberg S, Gasparini P, Zelante L, Pirvola U, Pakarinen L, Lehesjoki AE, de la Chapelle A, Sankila EM., Free PMC Article | 10/11/2001 |