| Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy. | Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy.
Nagel-Wolfrum K, Fadl BR, Becker MM, Wunderlich KA, Schäfer J, Sturm D, Fritze J, Gür B, Kaplan L, Andreani T, Goldmann T, Brooks M, Starostik MR, Lokhande A, Apel M, Fath KR, Stingl K, Kohl S, DeAngelis MM, Schlötzer-Schrehardt U, Kim IK, Owen LA, Vetter JM, Pfeiffer N, Andrade-Navarro MA, Grosche A, Swaroop A, Wolfrum U., Free PMC Article | 01/28/2023 |
| Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss. | Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss.
Noman M, Bukhari SA, Rehman S, Qasim M, Ali M, Riazuddin S, Ahmed ZM., Free PMC Article | 07/17/2021 |
| Myosin VII, USH1C, and ANKS4B or USH1G Together Form Condensed Molecular Assembly via Liquid-Liquid Phase Separation. | Myosin VII, USH1C, and ANKS4B or USH1G Together Form Condensed Molecular Assembly via Liquid-Liquid Phase Separation.
He Y, Li J, Zhang M. | 09/19/2020 |
| Crystall structure shows the interactions between harmonin protein domains and its partner Myo7a. | Myosin 7 and its adaptors link cadherins to actin.
Yu IM, Planelles-Herrero VJ, Sourigues Y, Moussaoui D, Sirkia H, Kikuti C, Stroebel D, Titus MA, Houdusse A., Free PMC Article | 01/19/2019 |
| The structure of the Myo7b CMF/USH1C PDZ complex provides mechanistic explanations for >20 deafness-causing mutations in Myo7a CMF. Taken together, these findings suggest that binding to PDZ domains, such as those from USH1C, PDZD7, and Whirlin, is a common property of CMFs of Myo7a, Myo7b, and Myo15a. | Structure of Myo7b/USH1C complex suggests a general PDZ domain binding mode by MyTH4-FERM myosins.
Li J, He Y, Weck ML, Lu Q, Tyska MJ, Zhang M., Free PMC Article | 04/28/2018 |
| We found a remarkable genetic heterogeneity in the studied families with USH1 with a variety of mutations, among which three were novel. These novel mutations will be included in the NADf mutation screening chip that will allow a higher diagnosis efficiency of this extremely genetically heterogeneous disease. | Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis.
Ben-Rebeh I, Grati M, Bonnet C, Bouassida W, Hadjamor I, Ayadi H, Ghorbel A, Petit C, Masmoudi S., Free PMC Article | 01/20/2018 |
| Harmonin can adopt two different structural states, 'open' and 'closed', as a result of the self-interaction between its domains. | Conformational switch of harmonin, a submembrane scaffold protein of the hair cell mechanoelectrical transduction machinery.
Bahloul A, Pepermans E, Raynal B, Wolff N, Cordier F, England P, Nouaille S, Baron B, El-Amraoui A, Hardelin JP, Durand D, Petit C., Free PMC Article | 10/14/2017 |
| In summary, our studies provide novel insight into the functional relationship between USH1 and USH2 proteins in the cochlea and the retina as well as the disease mechanisms underlying USH1 and USH2. | The roles of USH1 proteins and PDZ domain-containing USH proteins in USH2 complex integrity in cochlear hair cells.
Zou J, Chen Q, Almishaal A, Mathur PD, Zheng T, Tian C, Zheng QY, Yang J., Free PMC Article | 09/16/2017 |
| ANKS4B, and MYO7B form a stable ternary complex for anchoring microvilli tip-link cadherins | Mechanistic Basis of Organization of the Harmonin/USH1C-Mediated Brush Border Microvilli Tip-Link Complex.
Li J, He Y, Lu Q, Zhang M. | 06/4/2016 |
| harmonin and villin autoantibodies are sensitive and specific markers of IPEX, differentiate IPEX, including atypical cases, from other early childhood disorders associated with enteropathy | Autoantibodies to harmonin and villin are diagnostic markers in children with IPEX syndrome.
Lampasona V, Passerini L, Barzaghi F, Lombardoni C, Bazzigaluppi E, Brigatti C, Bacchetta R, Bosi E., Free PMC Article | 04/4/2015 |
| We localized proteins encoded by the top two regulated genes, TBL1X and USH1C, using immunohistochemistry to placental stem and anchoring villi associated with active contractile function. | Prenatal smoke exposure: effects on infant auditory system and placental gene expression.
Katbamna B, Klutz N, Pudrith C, Lavery JP, Ide CF. | 11/22/2014 |
| Description of the spectrum of mutations in USHIC in 374 families with autosomal recessive, non-syndromic hearing loss from India. | Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.
Ganapathy A, Pandey N, Srisailapathy CR, Jalvi R, Malhotra V, Venkatappa M, Chatterjee A, Sharma M, Santhanam R, Chadha S, Ramesh A, Agarwal AK, Rangasayee RR, Anand A., Free PMC Article | 11/8/2014 |
| This is the first report of a mutation in a known USH1 gene that causes late onset rather than congenital sensorineural hearing loss. | Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss.
Khateb S, Zelinger L, Ben-Yosef T, Merin S, Crystal-Shalit O, Gross M, Banin E, Sharon D., Free PMC Article | 06/8/2013 |
| The data highlight the ability of ZFNs to induce targeted homologous recombination and mediate gene repair in USH. | Gene repair of an Usher syndrome causing mutation by zinc-finger nuclease mediated homologous recombination.
Overlack N, Goldmann T, Wolfrum U, Nagel-Wolfrum K. | 12/22/2012 |
| Large protein assemblies formed by multivalent interactions between cadherin23 and harmonin suggest a stable anchorage structure at the tip link of stereocilia | Large protein assemblies formed by multivalent interactions between cadherin23 and harmonin suggest a stable anchorage structure at the tip link of stereocilia.
Wu L, Pan L, Zhang C, Zhang M., Free PMC Article | 12/22/2012 |
| Pathogenic mutations in MYO7A, USH1C, and USH1G have been found in four consanguineous Israeli Arab families with Usher syndrome type 1. | Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1.
Rizel L, Safieh C, Shalev SA, Mezer E, Jabaly-Habib H, Ben-Neriah Z, Chervinsky E, Briscoe D, Ben-Yosef T., Free PMC Article | 04/28/2012 |
| We report a novel molecular cause of sector retinitis pigmentosa associated with hearing loss representing a new phenotype associated with mutations in the USH1C gene. | Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss.
Saihan Z, Stabej Ple Q, Robson AG, Rangesh N, Holder GE, Moore AT, Steel KP, Luxon LM, Bitner-Glindzicz M, Webster AR. | 01/14/2012 |
| Mutations in USH1C are responsible for 1.5% of Usher syndrome type I disease in patients of Spanish origin. | Novel mutations in the USH1C gene in Usher syndrome patients.
Aparisi MJ, García-García G, Jaijo T, Rodrigo R, Graziano C, Seri M, Simsek T, Simsek E, Bernal S, Baiget M, Pérez-Garrigues H, Aller E, Millán JM., Free PMC Article | 02/26/2011 |
| Observational study of genetic testing. (HuGE Navigator) | Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
Booij JC, Bakker A, Kulumbetova J, Moutaoukil Y, Smeets B, Verheij J, Kroes HY, Klaver CC, van Schooneveld M, Bergen AA, Florijn RJ. | 12/5/2010 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Mutations in harmonin and Sans found in USH1 patients are shown to destabilize the complex formation of the two proteins | The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins.
Yan J, Pan L, Chen X, Wu L, Zhang M., Free PMC Article | 04/19/2010 |
| 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 |
| The structures of the harmonin N-domain alone and in complex with the cadherin 23 internal peptide fragment uncovered the detailed binding mechanism of this interaction between harmonin and cadherin 23. | Assembling stable hair cell tip link complex via multidentate interactions between harmonin and cadherin 23.
Pan L, Yan J, Wu L, Zhang M., Free PMC Article | 01/21/2010 |
| Observational study of genotype prevalence. (HuGE Navigator) | Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.
Ouyang XM, Yan D, Du LL, Hejtmancik JF, Jacobson SG, Nance WE, Li AR, Angeli S, Kaiser M, Newton V, Brown SD, Balkany T, Liu XZ. | 03/13/2008 |
| The c.216G>A mutation within the USH1C gene has been linked to a founder effect within the French Canadian population of Quebec associated with deafblindness. | Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population.
Ebermann I, Lopez I, Bitner-Glindzicz M, Brown C, Koenekoop RK, Bolz HJ., Free PMC Article | 01/21/2010 |